149 results on '"Sun, Young Joo"'
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2. Vestibular hair cells are more prone to damage by excessive acceleration insult in the mouse with KCNQ4 dysfunction
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Hansol Hong, Eun Ji Koo, Yesai Park, Gabae Song, Sun Young Joo, Jung Ah Kim, Heon Yung Gee, Jinsei Jung, Kangyoon Park, Gyu Cheol Han, Jae Young Choie, and Sung Huhn Kim
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Medicine ,Science - Abstract
Abstract KCNQ4 is a voltage-gated K+ channel was reported to distribute over the basolateral surface of type 1 vestibular hair cell and/or inner surface of calyx and heminode of the vestibular nerve connected to the type 1 vestibular hair cells of the inner ear. However, the precise localization of KCNQ4 is still controversial and little is known about the vestibular phenotypes caused by KCNQ4 dysfunction or the specific role of KCNQ4 in the vestibular organs. To investigate the role of KCNQ4 in the vestibular organ, 6-g hypergravity stimulation for 24 h, which represents excessive mechanical stimulation of the sensory epithelium, was applied to p.W277S Kcnq4 transgenic mice. KCNQ4 was detected on the inner surface of calyx of the vestibular afferent in transmission electron microscope images with immunogold labelling. Vestibular function decrease was more severe in the Kcnq4 p.W277S/p.W277S mice than in the Kcnq4 +/+ and Kcnq4 +/p.W277S mice after the stimulation. The vestibular function loss was resulted from the loss of type 1 vestibular hair cells, which was possibly caused by increased depolarization duration. Retigabine, a KCNQ activator, prevented hypergravity-induced vestibular dysfunction and hair cell loss. Patients with KCNQ4 mutations also showed abnormal clinical vestibular function tests. These findings suggest that KCNQ4 plays an essential role in calyx and afferent of type 1 vestibular hair cell preserving vestibular function against excessive mechanical stimulation.
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- 2024
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3. Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
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Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, and Tsang, Stephen H
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Brain Disorders ,Eye Disease and Disorders of Vision ,Stem Cell Research ,Neurosciences ,Genetics ,Rare Diseases ,Intellectual and Developmental Disabilities (IDD) ,Neurodegenerative ,Clinical Research ,Muscular Dystrophy ,2.1 Biological and endogenous factors ,Aetiology ,Eye ,Carrier Proteins ,Electroretinography ,Genetic Association Studies ,Humans ,Mutation ,Phenotype ,Retinal Dystrophies ,TTLL5 ,Inherited retinal dystrophy ,Retinitis pigmentosa ,Cone-rod dystrophy ,Cone dystrophy ,Autosomal recessive ,Cone–rod dystrophy ,Other Medical and Health Sciences ,Genetics & Heredity - Abstract
BackgroundInherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyrosine Ligase Like 5 (TTLL5) represent a recently described cause of inherited cone-rod and cone dystrophy. This study describes the unusual phenotypes of three patients with autosomal recessive mutations in TTLL5. Examination of these patients included funduscopic evaluation, spectral-domain optical coherence tomography, short-wavelength autofluorescence, and full-field electroretinography (ffERG). Genetic diagnoses were confirmed using whole exome capture. Protein modeling of the identified variants was performed to explore potential genotype-phenotype correlations.ResultsGenetic testing revealed five novel variants in TTLL5 in three unrelated patients with retinal dystrophy. Clinical imaging demonstrated features of sectoral cone-rod dystrophy and cone dystrophy, with phenotypic variability seen across all three patients. One patient also developed high-frequency hearing loss during a similar time period as the onset of retinal disease, potentially suggestive of a syndromic disorder. Retinal structure findings were corroborated with functional measures including ffERG findings that supported these diagnoses. Modeling of the five variants suggest that they cause different effects on protein function, providing a potential reason for genotype-phenotype correlation in these patients.ConclusionsThe authors report retinal phenotypic findings in three unrelated patients with novel mutations causing autosomal recessive TTLL5-mediated retinal dystrophy. These findings broaden the understanding of the phenotypes associated with TTLL5-mediated retinal disease and suggest that mutations in TTLL5 should be considered as a potential cause of sectoral retinal dystrophy in addition to cone-rod and cone dystrophies.
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- 2022
4. Evaluation of clinical factors predicting dysphagia in patients with traumatic and non-traumatic cervical spinal cord injury: a retrospective study
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Jin-Woo Choi, Dae Yeong Kim, Sun Young Joo, Donghwi Park, and Min Cheol Chang
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deglutition ,deglutition disorders ,spinal cord injuries ,vital capacity ,cervical spine ,dysphagia ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
IntroductionDysphagia is a common complication in patients with cervical spinal cord injury (C-SCI) and can cause various pulmonary complications, such as aspiration pneumonia and mechanical airway obstruction increasing mortality and morbidity. This study evaluated the clinical factors that predict dysphagia in patients with traumatic and non-traumatic C-SCI.MethodsNinety-eight patients with C-SCI were retrospectively enrolled in this study and were divided into those with and without dysphagia. Clinical factors such as age, sex, tracheostomy, spinal cord independence measure, pulmonary function test (PFT) including forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1) and FVC/FEV1, American Spinal Cord Injury Association score, Berg Balance Scale, and surgical approach were investigated retrospectively.ResultsMultivariate logistic regression analysis revealed that FVC and the presence of tracheostomy were significantly correlated with dysphagia in patients with C-SCI (p
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- 2024
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5. Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss
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Ji Hyuk Han, Seong Hoon Bae, Sun Young Joo, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Dongju Won, Heon Yung Gee, Jae Young Choi, Jinsei Jung, and Sung Huhn Kim
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genetic variation ,inheritance pattern ,vestibular function test ,vertigo ,Medicine - Abstract
Background: The vestibular phenotypes of patients with genetic hearing loss are poorly understood. Methods: we performed genetic testing including exome sequencing and vestibular function tests to investigate vestibular phenotypes and functions in patients with genetic hearing loss. Results: Among 627 patients, 143 (22.8%) had vestibular symptoms. Genetic variations were confirmed in 45 (31.5%) of the 143 patients. Nineteen deafness genes were linked with vestibular symptoms; the most frequent genes in autosomal dominant and recessive individuals were COCH and SLC26A4, respectively. Vestibular symptoms were mostly of the vertigo type, recurrent, and persisted for hours in the genetically confirmed and unconfirmed groups. Decreased vestibular function in the caloric test, video head impulse test, cervical vestibular-evoked myogenic potential, and ocular vestibular-evoked myogenic potential was observed in 42.0%, 16.3%, 57.8%, and 85.0% of the patients, respectively. The caloric test revealed a significantly higher incidence of abnormal results in autosomal recessive individuals than in autosomal dominant individuals (p = 0.011). The genes, including SLC26A4, COCH, KCNQ4, MYH9, NLRP3, EYA4, MYO7A, MYO15A, and MYH9, were heterogeneously associated with abnormalities in the vestibular function test. Conclusions: In conclusion, diverse vestibular symptoms are commonly concomitant with genetic hearing loss and are easily overlooked.
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- 2024
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6. Unleashing the potential of CRISPR multiplexing: Harnessing Cas12 and Cas13 for precise gene modulation in eye diseases
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Bigini, Fabio, Lee, Soo Hyeon, Sun, Young Joo, Sun, Yang, and Mahajan, Vinit B.
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- 2023
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7. Overlooked KCNQ4 variants augment the risk of hearing loss
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Kyung Seok Oh, Jae Won Roh, Sun Young Joo, Kunhi Ryu, Jung Ah Kim, Se Jin Kim, Seung Hyun Jang, Young Ik Koh, Da Hye Kim, Hye-Youn Kim, Murim Choi, Jinsei Jung, Wan Namkung, Joo Hyun Nam, Jae Young Choi, and Heon Yung Gee
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Medicine ,Biochemistry ,QD415-436 - Abstract
Abstract Pathogenic variants of KCNQ4 cause symmetrical, late-onset, progressive, high-frequency-affected hearing loss, which eventually involves all frequencies with age. To understand the contribution of KCNQ4 variants to hearing loss, we analyzed whole-exome and genome sequencing data from patients with hearing loss and individuals whose hearing phenotypes were unknown. In KCNQ4, we identified seven missense variants and one deletion variant in 9 hearing loss patients and 14 missense variants in the Korean population with an unknown hearing loss phenotype. The p.R420W and p.R447W variants were found in both cohorts. To investigate the effects of these variants on KCNQ4 function, we performed whole-cell patch clamping and examined their expression levels. Except for p.G435Afs*61, all KCNQ4 variants exhibited normal expression patterns similar to those of wild-type KCNQ4. The p.R331Q, p.R331W, p.G435Afs*61, and p.S691G variants, which were identified in patients with hearing loss, showed a potassium (K+) current density lower than or similar to that of p.L47P, a previously reported pathogenic variant. The p.S185W and p.R216H variants shifted the activation voltage to hyperpolarized voltages. The channel activity of the p.S185W, p.R216H, p.V672M, and p.S691G KCNQ4 proteins was rescued by the KCNQ activators retigabine or zinc pyrithione, whereas p.G435Afs*61 KCNQ4 proteins were partially rescued by sodium butyrate, a chemical chaperone. Additionally, the structure of the variants predicted using AlphaFold2 showed impaired pore configurations, as did the patch-clamp data. Our findings suggest that KCNQ4 variants may be overlooked in hearing loss that starts in adulthood. Some of these variants are medically treatable; hence, genetic screening for KCNQ4 is important.
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- 2023
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8. Liquid-biopsy proteomics combined with AI identifies cellular drivers of eye aging and disease in vivo
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Wolf, Julian, Rasmussen, Ditte K., Sun, Young Joo, Vu, Jennifer T., Wang, Elena, Espinosa, Camilo, Bigini, Fabio, Chang, Robert T., Montague, Artis A., Tang, Peter H., Mruthyunjaya, Prithvi, Aghaeepour, Nima, Dufour, Antoine, Bassuk, Alexander G., and Mahajan, Vinit B.
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- 2023
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9. Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss
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Minjin Kang, Jung Ah Kim, Mee Hyun Song, Sun Young Joo, Se Jin Kim, Seung Hyun Jang, Ho Lee, Je Kyung Seong, Jae Young Choi, Heon Yung Gee, and Jinsei Jung
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genetic hearing loss ,CEP250 ,C-Nap1 ,centrosome ,ciliary protein ,Cytology ,QH573-671 - Abstract
Genetic hearing loss is the most common hereditary sensorial disorder. Though more than 120 genes associated with deafness have been identified, unveiled causative genes and variants of diverse types of hearing loss remain. Herein, we identified a novel nonsense homozygous variant in CEP250 (c.3511C>T; p.Gln1171Ter) among the family members with progressive moderate sensorineural hearing loss in nonsyndromic autosomal recessive type but without retinal degeneration. CEP250 encodes C-Nap1 protein belonging to the CEP protein family, comprising 30 proteins that play roles in centrosome aggregation and cell cycle progression. The nonsense variant in CEP250 led to the early truncating protein of C-Nap1, which hindered centrosome localization; heterologous expression of CEP250 (c.3511C>T) in NIH3T3 cells within cilia expression condition revealed that the truncating C-Nap1 (p.Gln1171Ter) was not localized at the centrosome but was dispersed in the cytosol. In the murine adult cochlea, Cep250 was expressed in the inner and outer hair cells. Knockout mice of Cep250 showed significant hair cell degeneration and progressive hearing loss in auditory brainstem response. In conclusion, a nonsense variant in CEP250 results in a deficit of centrosome localization and hair cell degeneration in the cochlea, which is associated with the progression of hearing loss in humans and mice.
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- 2023
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10. Calpains as mechanistic drivers and therapeutic targets for ocular disease
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Vu, Jennifer T., Wang, Elena, Wu, Jolan, Sun, Young Joo, Velez, Gabriel, Bassuk, Alexander G., Lee, Soo Hyeon, and Mahajan, Vinit B.
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- 2022
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11. Trampoline-related fractures of the proximal tibia in children
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Changhoon Jeong, Sang Uk Lee, Hyun Gyun Kim, and Sun Young Joo
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Proximal tibia ,Fracture ,Trampoline ,Children ,Orthopedic surgery ,RD701-811 ,Diseases of the musculoskeletal system ,RC925-935 - Abstract
Abstract Background Trampoline-related fractures of the proximal tibial metaphysis are common in children and have been linked to subsequent valgus deformity of the tibia. The purpose of this study was to investigate the characteristics of trampoline-related proximal tibial fractures in young children. Methods We evaluated 40 patients with proximal tibial fracture after trampolining between 2013 and 2019. The median duration of follow-up was 18 months. Standing long leg radiographs were obtained at the last follow-up to evaluate angular deformity and limb length inequality in the patients. The measurements recorded include the lower limb length, mechanical lateral distal femoral angle (mLDFA), medial proximal tibial angle (MPTA), mechanical axis deviation (MAD), and anatomical tibio-femoral angle (aTFA). The anterior tilt angle (ATA) was measured using a lateral radiograph of the tibia. Results The median age at injury was 40.0 months. Using trampoline with a heavier person was the most common mechanism of injury. aTFA and MAD were found to be increased towards the valgus at the last follow-up in our patient; however, the increase was not statistically significant (p = 0.692 and p = 0.973, respectively). The anterior tilt angle was increased in the injured leg at the last follow-up. But the change was not statistically significant (p = 0.09). Conclusions Using trampoline with a heavier person carries the risk of trampoline-related proximal tibial fracture in young children. We did not find a significant change in limb alignment at a minimum of one year of follow-up.
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- 2021
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12. Low vitamin D levels in post-menopausal women are associated with complex regional pain syndrome type I in surgically treated distal radius fractures
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Sang-Uk Lee, Ki-Tae Na, Yoon-Min Lee, Jong Hwa Park, and Sun Young Joo
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Vitamin D ,Complex regional pain syndrome ,Distal radius fracture ,Orthopedic surgery ,RD701-811 ,Diseases of the musculoskeletal system ,RC925-935 - Abstract
Abstract Background Complex regional pain syndrome type I (CRPS I) is a chronic devastating condition and a relatively common complication of distal radius fractures (DRF). The purpose of this study was to investigate the relationship of vitamin D levels in surgically treated post-menopausal women with CRPS I occurrence in DRF. Methods From February 2016 to March 2017, 158 surgically treated post-menopausal patients with DRF were enrolled. Exclusion criteria were (1) patients who had been taking vitamin D or osteoporosis medication at the time of injury; (2) patients with medical factors that may affect vitamin D levels; (3) patients who were reluctant to enroll in the study; and (4) patient with additional fractures, ligamentous injuries, or neuropathy. A total of 107 patients were available for final analysis. We compared the serum vitamin D levels in post-menopausal women with DRF with CRPS I (group 1) and without CRPS I (group 2). Bone mineral density (BMD) of the femur and spine, osteocalcin, alkaline phosphatase (ALP), body mass index (BMI) were also measured. Results The average age at the time of surgery was 66.5 years (range, 39-86 years). The mean follow-up period was 16.3 months after surgery. Among the 107 surgically treated DRF patients, 19 (18%) met the Budapest criteria for CRPS I during the follow-up period. The mean serum vitamin D level in group 1 (15.2 ng/ml) was significantly lower than that in group 2 (20.5 ng/ml, p = 0.027). The mean values of osteocalcin, ALP, BMI, and BMD were not significantly different between the groups. Conclusion Lower vitamin D levels in post-menopausal women can increase CRPS I occurrence in distal radius fractures.
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- 2020
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13. A Fluorescence-Based Assay to Determine PDZ–Ligand Binding Thermodynamics
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Sun, Young Joo, primary and Fuentes, Ernesto J., additional
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- 2021
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14. Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains
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Sun Young Joo, Gina Na, Jung Ah Kim, Jee Eun Yoo, Da Hye Kim, Se Jin Kim, Seung Hyun Jang, Seyoung Yu, Hye-Youn Kim, Jae Young Choi, Heon Yung Gee, and Jinsei Jung
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MYO7A ,DFNA11 ,autosomal dominant hearing loss ,post-lingual hearing loss ,Biology (General) ,QH301-705.5 - Abstract
Autosomal dominant hearing loss (ADHL) manifests as an adult-onset disease or a progressive disease. MYO7A variants are associated with DFNA11, a subtype of ADHL. Here, we examined the role and genotype–phenotype correlation of MYO7A in ADHL. Enrolled families suspected of having post-lingual sensorineural hearing loss were selected for exome sequencing. Mutational alleles in MYO7A were identified according to ACMG guidelines. Segregation analysis was performed to examine whether pathogenic variants segregated with affected status of families. All identified pathogenic variants were evaluated for a phenotype–genotype correlation. MYO7A variants were detected in 4.7% of post-lingual families, and 12 of 14 families were multiplex. Five potentially pathogenic missense variants were identified. Fourteen variants causing autosomal dominant deafness were clustered in motor and MyTH4 domains of MYO7A protein. Missense variants in the motor domain caused late onset of hearing loss with ascending tendency. A severe audiological phenotype was apparent in individuals carrying tail domain variants. We report two new pathogenic variants responsible for DFNA11 in the Korean ADHL population. Dominant pathogenic variants of MYO7A occur frequently in motor and MyTH4 domains. Audiological differences among individuals correspond to specific domains which contain the variants. Therefore, appropriate rehabilitation is needed, particularly for patients with late-onset familial hearing loss.
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- 2022
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15. Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
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Jinsei Jung, Hyun Been Choi, Young Ik Koh, John Hoon Rim, Hye Ji Choi, Sung Huhn Kim, Jae Hyun Lee, Jieun An, Ami Kim, Joon Suk Lee, Sun Young Joo, Seyoung Yu, Jae Young Choi, Tong Mook Kang, and Heon Yung Gee
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Non-syndromic Hearing Loss ,Autosomal Dominant Non-syndromic Deafness (DFNA2) ,KCNQ Channels ,Retigabine ,Strong Dominant-negative Effect ,Medicine ,Science - Abstract
Abstract Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to a type of nonsyndromic hearing loss, deafness nonsyndromic autosomal dominant 2 (DFNA2). We performed whole-exome sequencing for 98 families with hearing loss and found mutations in KCNQ4 in five families. In this study, we characterized two novel mutations in KCNQ4: a missense mutation (c.796G>T; p.Asp266Tyr) and an in-frame deletion mutation (c.259_267del; p.Val87_Asn89del). p.Asp266Tyr located in the channel pore region resulted in early onset and moderate hearing loss, whereas p.Val87_Asn89del located in the N-terminal cytoplasmic region resulted in late onset and high frequency-specific hearing loss. When heterologously expressed in HEK 293 T cells, both mutant proteins did not show defects in protein trafficking to the plasma membrane or in interactions with wild-type (WT) KCNQ4 channels. Patch-clamp analysis demonstrated that both p.Asp266Tyr and p.Val87_Asn89del mutant channels lost conductance and were completely unresponsive to KCNQ activators, such as retigabine, zinc pyrithione, and ML213. Channels assembled from WT-p.Asp266Tyr concatemers, like those from WT-WT concatemers, exhibited conductance and responsiveness to KCNQ activators. However, channels assembled from WT-p.Val87_Asn89del concatemers showed impaired conductance, suggesting that p.Val87_Asn89del caused complete loss-of-function with a strong dominant-negative effect on functional WT channels. Therefore, the main pathological mechanism may be related to loss of K+ channel activity, not defects in trafficking.
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- 2018
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16. A physics-based energy function allows the computational redesign of a PDZ domain
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Opuu, Vaitea, Sun, Young Joo, Hou, Titus, Panel, Nicolas, Fuentes, Ernesto J., and Simonson, Thomas
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- 2020
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17. Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa
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Oh, Jin Kyun, Lima de Carvalho, Jr, Jose Ronaldo, Sun, Young Joo, Ragi, Sara, Yang, Jing, Levi, Sarah R., Ryu, Joseph, Bassuk, Alexander G., Mahajan, Vinit B., and Tsang, Stephen H.
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- 2019
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18. Comprehensive Prediction Model, Including Genetic Testing, for the Outcomes of Cochlear Implantation
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Ji Hyuk, Han, Sung Huhn, Kim, In Seok, Moon, Sun Young, Joo, Jung Ah, Kim, Heon Yung, Gee, Jinsei, Jung, and Jae Young, Choi
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Speech and Hearing ,Otorhinolaryngology - Abstract
Despite growing interest in the genetic contribution to cochlear implant (CI) outcomes, only a few studies with limited samples have examined the association of CI outcomes with genetic etiologies. We analyzed CI outcomes using known predictors and genetic testing results to obtain a comprehensive understanding of the impact of genetic etiologies.We retrospectively reviewed the medical records and images of patients who underwent cochlear implantation and genetic testing at a single tertiary medical institution, between May 2008 and December 2020. After excluding those whose speech test results were unavailable, and those in whom the implant was removed due to complications, such as infection or device failure, 203 patients were included in this study. The participants were categorized into adult (≥19 years), child (2-18 years), and infant (24 months) groups. Outcomes were measured based on categories of auditory perception, monosyllable, disyllable, and sentence scores. For the infant group, the Infant-Toddler Meaningful Auditory Integration Scale score was used.Among the 203 participants, a causative genetic variant was identified in 117 (57.6%) individuals. The presence of a causative variant was significantly associated with better CI outcomes in the infant group (β = 0.23; 95% confidence interval, 0.01 to 0.47; p = 0.044), but not in the child and adult groups. In the genetically confirmed patients without cochlear malformation, genetic variants involving the spiral ganglion was a poor prognostic factor in the child group (β = -57.24; 95% confidence interval, -90.63 to -23.75; p = 0.004).The presence of known genetic etiology of hearing loss was associated with better CI outcomes in the infant group, but not in the child and adult groups. A neural-type genetic variant was a poor prognostic factor in the genetically diagnosed child subgroup without cochlear malformation. Careful genetic counseling should be performed before cochlear implantation.
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- 2022
19. Prevalence of Vitamin D Deficiency in Children with Fractures: Before and during the COVID-19 Outbreak
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Yong-Suk Lee, Sang-Uk Lee, Tae Min Hong, and Sun Young Joo
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Fractures, Bone ,Article Subject ,Adolescent ,Child, Preschool ,Prevalence ,COVID-19 ,Humans ,General Medicine ,Vitamin D ,Child ,Vitamin D Deficiency ,Pandemics ,Disease Outbreaks - Abstract
Background. Although it is generally agreed that vitamin D is important for bone health, the role of vitamin D in preventing fractures in children and adolescents remains unclear. Therefore, this study aimed to investigate the prevalence of vitamin D deficiency and insufficiency in healthy Korean children with fractures. Our secondary aim was to compare serum vitamin D levels before and during the coronavirus disease 2019 (COVID-19) outbreak. Methods. We evaluated 334 patients with fractures who were surgically treated at our institution between 2018 and 2019 before the onset of COVID-19 (group I). In addition, we collected data on the serum 25(OH)D levels of 210 patients who visited our pediatric department for evaluation of short stature (group II) and the serum 25(OH)D levels of the patients with fractures during the COVID-19 pandemic period (group III). A serum 25(OH)D level of p < 0.001 ). The mean serum 25(OH)D level of younger patients ( p = 0.037 ). Conclusions. We observed a high prevalence of vitamin D deficiency/insufficiency in children with fractures who required surgical treatment. During the COVID-19 pandemic, the serum vitamin D levels became even lower, especially in younger children.
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- 2022
20. Structure-based phylogeny identifies avoralstat as a TMPRSS2 inhibitor that prevents SARS-CoV-2 infection in mice
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Sun, Young Joo, Velez, Gabriel, Parsons, Dylan E., Li, Kun, Ortiz, Miguel E., Sharma, Shaunik, McCray, Paul B., Jr., Bassuk, Alexander G., and Mahajan, Vinit B.
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Protease inhibitors -- Identification and classification -- Usage -- Chemical properties ,Proteins -- Structure ,Health care industry - Abstract
Drugs targeting host proteins can act prophylactically to reduce viral burden early in disease and limit morbidity, even with antivirals and vaccination. Transmembrane serine protease 2 (TMPRSS2) is a human protease required for SARS coronavirus 2 (SARS-CoV-2) viral entry and may represent such a target. We hypothesized that drugs selected from proteins related by their tertiary structure, rather than their primary structure, were likely to interact with TMPRSS2. We created a structure-based phylogenetic computational tool named 3DPhyloFold to systematically identify structurally similar serine proteases with known therapeutic inhibitors and demonstrated effective inhibition of SARS- CoV-2 infection in vitro and in vivo. Several candidate compounds, avoralstat, PCI-27483, antipain, and soybean trypsin inhibitor, inhibited TMPRSS2 in biochemical and cell infection assays. Avoralstat, a clinically tested kallikrein-related B1 inhibitor, inhibited SARS-CoV-2 entry and replication in human airway epithelial cells. In an in vivo proof of principle, avoralstat significantly reduced lung tissue titers and mitigated weight loss when administered prophylactically to mice susceptible to SARS-CoV-2, indicating its potential to be repositioned for coronavirus disease 2019 (COVID-19) prophylaxis in humans., Introduction Coronavirus disease 2019 (COVID-19), caused by SARS coronavirus 2 (SARS-CoV-2), has spread globally, and prophylactic and early-stage therapies are needed for high-risk populations. Even with vaccines, adjunctive therapies that [...]
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- 2021
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21. Feasibility and Effectiveness of a Motion Tracking-Based Online Fitness Program for Office Workers
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Sun-Young Joo, Chang-Bae Lee, Na-Young Joo, and Chung-Reen Kim
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COVID-19 ,exercise ,fitness ,machine learning ,physical activity ,Medicine - Abstract
The development of technology-based home fitness has emerged from the booming digital healthcare market and recent demands for at-home fitness and health equipment due to the COVID-19 pandemic. Digital healthcare company Alyce Healthcare recently developed Weelo, which is a web-based online fitness program. Weelo recommends an exercise protocol through machine-learning-enabled recognition of the user’s motion and provides visual and auditory feedback. We evaluated whether Weelo improves physical and mental well-being to assess its capabilities and effectiveness. Thirty-two participants performed a total of 20 exercise sessions following the Weelo guide on a laptop. The participants were evaluated using a before and after exercise program, body composition, handgrip strength, six-minute walk test, modified star excursion balance test, short form 36, fatigue severity scale, Beck depression index, and a satisfaction survey. Overall, there was a significant improvement in muscle strength, endurance, and balance ability, as well as an improved quality of life and significant reduction in fatigue and depression. Participants showed high motivation to continue following the Weelo exercise program. In conclusion, utilizing Weelo improved physical and mental well-being and is considered to be an individual-use indoor exercise program that serves as an alternative to traditional face-to-face exercise.
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- 2021
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22. Protocol to quantify enzymatic effects on vitreous liquefaction in porcine eyes using a transwell-plate system
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Wolf, Julian, primary, Sabage, Luís E., additional, Sun, Young Joo, additional, and Mahajan, Vinit B., additional
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- 2022
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23. Medial Epicondyle Fracture in Children and Its Association with Increased Carrying Angle
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Changhoon Jeong, Sang-Uk Lee, Hyun Gyun Kim, and Sun Young Joo
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Radiography ,Humeral Fractures ,Treatment Outcome ,Article Subject ,Adolescent ,Elbow Joint ,Humans ,General Medicine ,Range of Motion, Articular ,Child ,Elbow Injuries ,Retrospective Studies - Abstract
Background. This study aimed to evaluate the injury mechanism of medial epicondylar fractures in children and adolescents and its association with increased carrying angle (CA) as a predisposing factor. Materials and Methods. We evaluated 37 patients with medial epicondylar fractures who were surgically treated at our institution. Medical records and plain radiographs were reviewed to determine the mechanism of injury and the humerus-elbow-wrist angle (HEWA) and CA of the uninjured arm. To evaluate the effect of coronal alignment on specific fracture type, we compared the CA and HEWA of the 23 patients with medial epicondylar fracture who were injured by falling onto an outstretched hand (group I) with age- and sex-matched controls of 23 patients who had sustained extension-type supracondylar fractures (group II). Results. The mean age at injury was 11.7 ± 2.8 years (range, 5 to 16 years). Of the 37 patients, 23 (62.2%) recalled the injury mechanism as falling onto an outstretched hand and 10 patients (27.0%) were injured while arm wrestling, and in one patient (2.7%), the injury was associated with elbow dislocation. In the case-matched analysis, the mean HEWA of group I was 13.1 ± 2.8° (range, 7.1° to 19.8°) and the mean CA was 17.7 ± 2.7° (range, 13.0° to 22.2°). These angles were significantly increased in group I ( p = 0.003 and p = 0.001 , respectively). Conclusion. Falling onto an outstretched hand is the most common injury mechanism in patients with medial epicondylar fractures, and these fractures are associated with an increased CA.
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- 2022
24. Conjunctival Swabs Reveal Higher Detection Rate Compared to Schirmer Strips for SARS-CoV-2 RNA Detection in Tears of Hospitalized COVID-19 Patients
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Sabage, Luís Expedito, primary, Sun, Young Joo, additional, Wolf, Julian, additional, Sabage, Josmar, additional, Mazzo, Alessandra, additional, Santos, Carlos Ferreira, additional, Mahajan, Vinit B., additional, and Manzoni Lourençone, Luiz Fernando, additional
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- 2022
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25. Trampoline-related fractures of the proximal tibia in children
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Hyun Gyun Kim, Sun Young Joo, Sang-Uk Lee, and Changhoon Jeong
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medicine.medical_specialty ,Radiography ,Poison control ,Diseases of the musculoskeletal system ,Proximal tibia ,Trampoline ,medicine ,Humans ,Orthopedics and Sports Medicine ,Tibia ,Femur ,Children ,Valgus deformity ,Retrospective Studies ,Orthodontics ,Orthopedic surgery ,biology ,business.industry ,medicine.disease ,biology.organism_classification ,Tibial Fractures ,Valgus ,Fracture ,RC925-935 ,Child, Preschool ,Surgery ,business ,RD701-811 ,Research Article - Abstract
Background Trampoline-related fractures of the proximal tibial metaphysis are common in children and have been linked to subsequent valgus deformity of the tibia. The purpose of this study was to investigate the characteristics of trampoline-related proximal tibial fractures in young children. Methods We evaluated 40 patients with proximal tibial fracture after trampolining between 2013 and 2019. The median duration of follow-up was 18 months. Standing long leg radiographs were obtained at the last follow-up to evaluate angular deformity and limb length inequality in the patients. The measurements recorded include the lower limb length, mechanical lateral distal femoral angle (mLDFA), medial proximal tibial angle (MPTA), mechanical axis deviation (MAD), and anatomical tibio-femoral angle (aTFA). The anterior tilt angle (ATA) was measured using a lateral radiograph of the tibia. Results The median age at injury was 40.0 months. Using trampoline with a heavier person was the most common mechanism of injury. aTFA and MAD were found to be increased towards the valgus at the last follow-up in our patient; however, the increase was not statistically significant (p = 0.692 and p = 0.973, respectively). The anterior tilt angle was increased in the injured leg at the last follow-up. But the change was not statistically significant (p = 0.09). Conclusions Using trampoline with a heavier person carries the risk of trampoline-related proximal tibial fracture in young children. We did not find a significant change in limb alignment at a minimum of one year of follow-up.
- Published
- 2021
26. New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family
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Vaclavik, Veronika, primary, Tiab, Leila, additional, Sun, Young Joo, additional, Mahajan, Vinit B., additional, Moulin, Alexandre, additional, Allaman-Pillet, Nathalie, additional, Munier, Francis L., additional, and Schorderet, Daniel F., additional
- Published
- 2022
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27. A protocol to inject ocular drug implants into mouse eyes
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Lin, Cheng-Hui, primary, Sun, Young Joo, additional, Lee, Soo Hyeon, additional, Mujica, Elena M., additional, Kunchur, Caitlin R., additional, Wu, Man-Ru, additional, Yang, Jing, additional, Jung, Youn Soo, additional, Chiang, Bryce, additional, Wang, Sui, additional, and Mahajan, Vinit B., additional
- Published
- 2022
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28. OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
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Young Ik Koh, Kyung Seok Oh, Jung Ah Kim, Byunghwa Noh, Hye Ji Choi, Sun Young Joo, John Hoon Rim, Hye-Youn Kim, Dong Yun Kim, Seyoung Yu, Da Hye Kim, Sang-Guk Lee, Jinsei Jung, Jae Young Choi, and Heon Yung Gee
- Subjects
otorhinolaryngologic diseases ,Cell Biology ,Molecular Biology - Abstract
Intracellular accumulation of mutant proteins causes proteinopathies, which lack targeted therapies. Autosomal dominant hearing loss (DFNA67) is caused by frameshift mutations in OSBPL2. Here, we show that DFNA67 is a toxic proteinopathy. Mutant OSBPL2 accumulated intracellularly and bound to macroautophagy/autophagy proteins. Consequently, its accumulation led to defective endolysosomal homeostasis and impaired autophagy. Transgenic mice expressing mutant OSBPL2 exhibited hearing loss, but osbpl2 knockout mice or transgenic mice expressing wild-type OSBPL2 did not. Rapamycin decreased the accumulation of mutant OSBPL2 and partially rescued hearing loss in mice. Rapamycin also partially improved hearing loss and tinnitus in individuals with DFNA67. Our findings indicate that dysfunctional autophagy is caused by mutant proteins in DFNA67; hence, we recommend rapamycin for DFNA67 treatment. Abbreviations: ABR: auditory brainstem response; ACTB: actin beta; CTSD: cathepsin D; dB: decibel; DFNA67: deafness non-syndromic autosomal dominant 67; DPOAE: distortion product otoacoustic emission; fs: frameshift; GFP: green fluorescent protein; HsQ53R-TG: human p.Q53Rfs*100-transgenic: HEK 293: human embryonic kidney 293; HFD: high-fat diet; KO: knockout; LAMP1: lysosomal associated membrane protein 1; MAP1LC3/LC3: microtubule-associated protein 1 light chain 3; MTOR: mechanistic target of rapamycin kinase; NSHL: non-syndromic hearing loss; OHC: outer hair cells; OSBPL2: oxysterol binding protein-like 2; SEM: scanning electron microscopy; SGN: spiral ganglion neuron; SQSTM1/p62: sequestosome 1; TEM: transmission electron microscopy; TG: transgenic; WES: whole-exome sequencing; YUHL: Yonsei University Hearing Loss; WT: wild-type.
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- 2022
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29. An intravitreal implant injection method for sustained drug delivery into mouse eyes
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Sun, Young Joo, primary, Lin, Cheng-Hui, additional, Wu, Man-Ru, additional, Lee, Soo Hyeon, additional, Yang, Jing, additional, Kunchur, Caitlin R., additional, Mujica, Elena M., additional, Chiang, Bryce, additional, Jung, Youn Soo, additional, Wang, Sui, additional, and Mahajan, Vinit B., additional
- Published
- 2021
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30. COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype–genotype study
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Hye Ji Choi, Kyung Seok Oh, Heon Yung Gee, Sun Young Joo, Jae Young Choi, Seyoung Yu, Young Ik Koh, Richard J.H. Smith, John Hoon Rim, Daniel Walls, Jinsei Jung, Jung Ah Kim, Hye-Youn Kim, Jee Eun Yoo, and Da Hye Kim
- Subjects
Genotype ,Hearing loss ,Hearing Loss, Sensorineural ,Biology ,Deafness ,Article ,otorhinolaryngologic diseases ,Genetics ,medicine ,Humans ,Functional studies ,Hearing Loss ,Genetics (clinical) ,Exome sequencing ,Arthrogryposis ,Extracellular Matrix Proteins ,LCCL domain ,Phenotype ,Human genetics ,Pedigree ,Cohort ,Mutation ,Phenotype genotype ,medicine.symptom - Abstract
This phenotype-genotype study aimed to investigate the extent of audioprofile variability related to cochlin major domains and to identify potential ethnic-specific differences associated with COCH-related hearing loss. Eight Korean families (26 cases) were diagnosed with COCH-related hearing loss by exome sequencing. Audiometric test results were combined with those from nine published East Asian families (20 cases) and compared with those from 38 European-descent families (277 cases). Audioprofiles were created by grouping audiometric test results into age ranges by age at testing and then averaging hearing loss thresholds by frequency within age ranges. The functional impact of the identified variants was assessed in vitro by examining the intracellular trafficking, secretion, and cleavage of cochlin. In both East Asian and European-descent families segregating COCH-related hearing loss, deafness-associated variants in non-LCCL domains of cochlin were associated with hearing loss that was more severe earlier in life than hearing loss caused by variants in the LCCL domain. Consistent with this phenotypic difference, functional studies demonstrated distinct pathogenic mechanisms for COCH variants in a domain-dependent manner; specifically, a cytotoxic effect was observed for the p.Phe230Leu variant, which is located in the vWFA1 domain. No ethnic-specific differences in hearing loss progression were observed, except for those attributable to an overrepresentation of presymptomatic cases in the European-descent cohort.
- Published
- 2021
31. Feasibility and Effectiveness of a Motion Tracking-Based Online Fitness Program for Office Workers
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Na-Young Joo, Sun-Young Joo, Chung-Reen Kim, and Changbae Lee
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medicine.medical_specialty ,business.product_category ,Leadership and Management ,physical activity ,Health Informatics ,Article ,Motion (physics) ,03 medical and health sciences ,0302 clinical medicine ,Quality of life (healthcare) ,Health Information Management ,Match moving ,Health care ,medicine ,030212 general & internal medicine ,Balance (ability) ,Protocol (science) ,Auditory feedback ,exercise ,business.industry ,Health Policy ,COVID-19 ,030229 sport sciences ,fitness ,machine learning ,Laptop ,Physical therapy ,Medicine ,business ,Psychology - Abstract
The development of technology-based home fitness has emerged from the booming digital healthcare market and recent demands for at-home fitness and health equipment due to the COVID-19 pandemic. Digital healthcare company Alyce Healthcare recently developed Weelo, which is a web-based online fitness program. Weelo recommends an exercise protocol through machine-learning-enabled recognition of the user’s motion and provides visual and auditory feedback. We evaluated whether Weelo improves physical and mental well-being to assess its capabilities and effectiveness. Thirty-two participants performed a total of 20 exercise sessions following the Weelo guide on a laptop. The participants were evaluated using a before and after exercise program, body composition, handgrip strength, six-minute walk test, modified star excursion balance test, short form 36, fatigue severity scale, Beck depression index, and a satisfaction survey. Overall, there was a significant improvement in muscle strength, endurance, and balance ability, as well as an improved quality of life and significant reduction in fatigue and depression. Participants showed high motivation to continue following the Weelo exercise program. In conclusion, utilizing Weelo improved physical and mental well-being and is considered to be an individual-use indoor exercise program that serves as an alternative to traditional face-to-face exercise.
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- 2021
32. Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation
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Hye-Youn Kim, Seung-Tae Lee, Jinsei Jung, Sun Young Joo, Jung Ah Kim, John Hoon Rim, Da Hye Kim, Jae Young Choi, Jee Eun Yoo, Young Ik Koh, Byunghwa Noh, Kyumin Kim, Kyung Seok Oh, Jinwoong Bok, Heon Yung Gee, and Min Goo Lee
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Oncology ,Adult ,medicine.medical_specialty ,Candidate gene ,Hearing loss ,Hearing Loss, Sensorineural ,Hearing Tests ,Confounding ,Audiogram ,Biology ,Ligands ,Molecular medicine ,Human genetics ,Pedigree ,Internal medicine ,Exome Sequencing ,Genetics ,medicine ,Humans ,Medical diagnosis ,medicine.symptom ,Pathology, Molecular ,Hearing Loss ,Genetics (clinical) ,Exome sequencing - Abstract
Ski-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. We analyzed 192 families with post-lingual HL via gene panel and/or exome sequencing. With an overall molecular diagnostic rate of 35.4% (68/192) in post-lingual HL, ski-slope HL showed a lower diagnostic rate (30.7%) compared with other conditions (40.7%). In patients who showed HL onset before the age of 40, genetic diagnostic probability was significantly lower for ski-slope HL than for other conditions. Further analysis of 51 genetically undiagnosed patients in the ski-slope HL group identified three variants in delta-like ligand 1 (DLL1), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor. DLL1 was identified as a candidate gene causing ski-slope HL.
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- 2021
33. Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
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Heon Yung Gee, Tong Mook Kang, Seyoung Yu, Sun Young Joo, Joon Suk Lee, John Hoon Rim, Young Ik Koh, Jinsei Jung, Sung Huhn Kim, Jae Young Choi, Jae Hyun Lee, Ami Kim, Hyun Been Choi, Jieun An, and Hye Ji Choi
- Subjects
0301 basic medicine ,Adult ,Male ,Hearing loss ,Science ,Mutant ,DNA Mutational Analysis ,Deafness ,Autosomal Dominant Non-syndromic Deafness (DFNA2) ,medicine.disease_cause ,Article ,03 medical and health sciences ,chemistry.chemical_compound ,Exome Sequencing ,medicine ,Missense mutation ,Humans ,Amino Acid Sequence ,Child ,Exome sequencing ,Non-syndromic Hearing Loss ,Strong Dominant-negative Effect ,Mutation ,Multidisciplinary ,KCNQ Potassium Channels ,Retigabine ,HEK 293 cells ,Molecular biology ,Pedigree ,030104 developmental biology ,HEK293 Cells ,chemistry ,Medicine ,Female ,medicine.symptom ,KCNQ Channels ,KCNQ4 ,HeLa Cells - Abstract
Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to a type of nonsyndromic hearing loss, deafness nonsyndromic autosomal dominant 2 (DFNA2). We performed whole-exome sequencing for 98 families with hearing loss and found mutations in KCNQ4 in five families. In this study, we characterized two novel mutations in KCNQ4: a missense mutation (c.796G>T; p.Asp266Tyr) and an in-frame deletion mutation (c.259_267del; p.Val87_Asn89del). p.Asp266Tyr located in the channel pore region resulted in early onset and moderate hearing loss, whereas p.Val87_Asn89del located in the N-terminal cytoplasmic region resulted in late onset and high frequency-specific hearing loss. When heterologously expressed in HEK 293 T cells, both mutant proteins did not show defects in protein trafficking to the plasma membrane or in interactions with wild-type (WT) KCNQ4 channels. Patch-clamp analysis demonstrated that both p.Asp266Tyr and p.Val87_Asn89del mutant channels lost conductance and were completely unresponsive to KCNQ activators, such as retigabine, zinc pyrithione, and ML213. Channels assembled from WT-p.Asp266Tyr concatemers, like those from WT-WT concatemers, exhibited conductance and responsiveness to KCNQ activators. However, channels assembled from WT-p.Val87_Asn89del concatemers showed impaired conductance, suggesting that p.Val87_Asn89del caused complete loss-of-function with a strong dominant-negative effect on functional WT channels. Therefore, the main pathological mechanism may be related to loss of K+ channel activity, not defects in trafficking.
- Published
- 2018
34. Simple and versatile molecular method of copy-number measurement using cloned competitors.
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Hyun-Kyoung Kim, Hai-Li Hwang, Seong-Yeol Park, Kwang Man Lee, Won Cheol Park, Han-Seong Kim, Tae-Hyun Um, Young Jun Hong, Jin Kyung Lee, Sun-Young Joo, Ju-Young Seoh, Yeong-Wook Song, Soo-Youl Kim, Yong-Nyun Kim, and Kyeong-Man Hong
- Subjects
Medicine ,Science - Abstract
Variations and alterations of copy numbers (CNVs and CNAs) carry disease susceptibility and drug responsiveness implications. Although there are many molecular methods to measure copy numbers, sensitivity, reproducibility, cost, and time issues remain. In the present study, we were able to solve those problems utilizing our modified real competitive PCR method with cloned competitors (mrcPCR). First, the mrcPCR for ERBB2 copy number was established, and the results were comparable to current standard methods but with a shorter assay time and a lower cost. Second, the mrcPCR assays for 24 drug-target genes were established, and the results in a panel of NCI-60 cells were comparable to those from real-time PCR and microarray. Third, the mrcPCR results for FCGR3A and the FCGR3B CNVs were comparable to those by the paralog ratio test (PRT), but without PRT's limitations. These results suggest that mrcPCR is comparable to the currently available standard or the most sensitive methods. In addition, mrcPCR would be invaluable for measurement of CNVs in genes with variants of similar structures, because combination of the other methods is not necessary, along with its other advantages such as short assay time, small sample amount requirement, and applicability to all sequences and genes.
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- 2013
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35. Peptidomimetics Therapeutics for Retinal Disease
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Parsons, Dylan E., primary, Lee, Soo Hyeon, additional, Sun, Young Joo, additional, Velez, Gabriel, additional, Bassuk, Alexander G., additional, Smith, Mark, additional, and Mahajan, Vinit B., additional
- Published
- 2021
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36. TMPRSS2 structure-phylogeny repositions Avoralstat for SARS-CoV-2 prophylaxis in mice
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Sun, Young Joo, primary, Velez, Gabriel, additional, Parsons, Dylan, additional, Li, Kun, additional, Ortiz, Miguel, additional, Sharma, Shaunik, additional, McCray, Paul B, additional, Bassuk, Alexander G, additional, and Mahajan, Vinit B, additional
- Published
- 2021
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37. Low vitamin D levels in post-menopausal women are associated with complex regional pain syndrome type I in surgically treated distal radius fractures
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Jong Hwa Park, Sun Young Joo, Yoon-Min Lee, Sang-Uk Lee, and Ki-Tae Na
- Subjects
Adult ,medicine.medical_specialty ,lcsh:Diseases of the musculoskeletal system ,Osteoporosis ,Gastroenterology ,03 medical and health sciences ,Postoperative Complications ,0302 clinical medicine ,lcsh:Orthopedic surgery ,Internal medicine ,medicine ,Vitamin D and neurology ,Humans ,Orthopedics and Sports Medicine ,Femur ,Vitamin D ,Aged ,Retrospective Studies ,Aged, 80 and over ,030203 arthritis & rheumatology ,Bone mineral ,030222 orthopedics ,biology ,business.industry ,Middle Aged ,Vitamin D Deficiency ,medicine.disease ,Complex regional pain syndrome ,Postmenopause ,lcsh:RD701-811 ,Orthopedic surgery ,Osteocalcin ,biology.protein ,Female ,Surgery ,lcsh:RC925-935 ,Radius Fractures ,business ,Body mass index ,Complex Regional Pain Syndromes ,Research Article ,Distal radius fracture - Abstract
Background Complex regional pain syndrome type I (CRPS I) is a chronic devastating condition and a relatively common complication of distal radius fractures (DRF). The purpose of this study was to investigate the relationship of vitamin D levels in surgically treated post-menopausal women with CRPS I occurrence in DRF. Methods From February 2016 to March 2017, 158 surgically treated post-menopausal patients with DRF were enrolled. Exclusion criteria were (1) patients who had been taking vitamin D or osteoporosis medication at the time of injury; (2) patients with medical factors that may affect vitamin D levels; (3) patients who were reluctant to enroll in the study; and (4) patient with additional fractures, ligamentous injuries, or neuropathy. A total of 107 patients were available for final analysis. We compared the serum vitamin D levels in post-menopausal women with DRF with CRPS I (group 1) and without CRPS I (group 2). Bone mineral density (BMD) of the femur and spine, osteocalcin, alkaline phosphatase (ALP), body mass index (BMI) were also measured. Results The average age at the time of surgery was 66.5 years (range, 39-86 years). The mean follow-up period was 16.3 months after surgery. Among the 107 surgically treated DRF patients, 19 (18%) met the Budapest criteria for CRPS I during the follow-up period. The mean serum vitamin D level in group 1 (15.2 ng/ml) was significantly lower than that in group 2 (20.5 ng/ml, p = 0.027). The mean values of osteocalcin, ALP, BMI, and BMD were not significantly different between the groups. Conclusion Lower vitamin D levels in post-menopausal women can increase CRPS I occurrence in distal radius fractures.
- Published
- 2020
38. Heterogeneity of MYO15A variants significantly determine the feasibility of acoustic stimulation with hearing aid and cochlear implant
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Ho Young Lee, Hae Eun Noh, Gina Na, Jae Young Choi, Sun Young Joo, Hye Youn Kim, Geun Cheol Shin, Heon Yung Gee, Jung Ah Kim, John Hoon Rim, Jinsei Jung, Seyoung Yu, Da Hye Kim, Yeonsu Jeong, and Hye Ji Choi
- Subjects
0301 basic medicine ,Hearing aid ,Proband ,MYO15A ,medicine.medical_specialty ,Hearing loss ,medicine.medical_treatment ,Hearing Loss, Sensorineural ,Audiology ,Myosins ,Frameshift mutation ,03 medical and health sciences ,0302 clinical medicine ,Hearing Aids ,Cochlear implant ,otorhinolaryngologic diseases ,Medicine ,Missense mutation ,Humans ,business.industry ,Genetic Variation ,Aural rehabilitation ,Sensory Systems ,Pedigree ,030104 developmental biology ,Cochlear Implants ,Acoustic Stimulation ,Feasibility Studies ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Autosomal recessive nonsyndromic hearing loss 3 (DFNB3) mainly leads to congenital and severe-to-profound hearing impairment, which is caused by variants in MYO15A. However, audiological heterogeneity in patients with DFNB3 hinders precision medicine in hearing rehabilitation. Here, we aimed to elucidate the heterogeneity of the auditory phenotypes of MYO15A variants according to the affected domain and the feasibilities for acoustic stimulation. We conducted whole-exome sequencing for 10 unrelated individuals from seven multiplex families with DFNB3; 11 MYO15A variants, including the novel frameshift c.900delT (p.Pro301Argfs*143) and nonsense c.4879G > T (p.Glu1627*) variants, were identified. In seven probands, residual hearing at low frequencies was significantly higher in the groups with one or two N-terminal frameshift variants in trans conformation compared to that in the group without these variants. This is consistent with the 56 individuals from the previously published reports that carried a varying number of N-terminal truncating variants in MYO15A. In addition, patients with missense variants in the second FERM domain had better hearing at low frequencies than patients without these variants. Subsequently, acoustic stimulation provided by devices such as hearing aids or cochlear implants was feasible in patients with one or two N-terminal truncating variants or a second FERM missense variant. In conclusion, N-terminal or second FERM variants in MYO15A allow the practical use of acoustic stimulation through hearing aids or electroacoustic stimulation for aural rehabilitation.
- Published
- 2020
39. Architecture of the Triceps Surae Muscles Complex in Patients with Spastic Hemiplegia: Implication for the Limited Utility of the Silfverskiöld Test
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Hoon Park, Sun Young Joo, Sharkawy Wagih Abdel-Baki, Isaac Rhee, Kun-Bo Park, Hyun Woo Kim, and Jong-Kwan Shin
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architectural properties ,medicine.medical_specialty ,Group ii ,Article ,Cerebral palsy ,03 medical and health sciences ,0302 clinical medicine ,Physical medicine and rehabilitation ,the Silfverskiöld test ,medicine ,In patient ,Spasticity ,030222 orthopedics ,cerebral palsy ,business.industry ,Ultrasound ,General Medicine ,medicine.disease ,medicine.anatomical_structure ,triceps surae ,Ankle ,Spastic hemiplegia ,medicine.symptom ,business ,Muscle architecture ,limited utility ,030217 neurology & neurosurgery - Abstract
The Silfverskiö, ld test has long been used as an important tool for determining the affected muscles of the triceps surae in patients with equinus deformity. However, the test may not reflect the altered interactions between the muscles of the triceps which are affected by spasticity. The purpose of this study was to compare the architectural properties of the triceps surae muscles complex using ultrasonography, between hemiplegic patients and typically-developing children. Specifically, we wished to examine any differences in the architecture of the three muscles with various angle configurations of the knee and ankle joints. Ultrasound images of the medial gastrocnemius, lateral gastrocnemius, and soleus were acquired from paretic (group I) and non-paretic (group II) legs of ten patients and the legs (group III) of 10 age-matched normal children. A mixed model was used to evaluate the differences in the measurements of muscle architecture among the groups and the effects of various joint configurations on the measurements within the muscles. Compared to the results of measurements in groups II and III, the fascicle length was not different in the medial gastrocnemius of a paretic leg but it was longer in the lateral gastrocnemius and shorter in the soleus, the pennation angle was smaller in both medial and lateral gastrocnemii and was not different in the soleus, and the muscle thickness was found to be reduced in the three muscles of the paretic leg. Contrary to the observations in both the medial and lateral gastrocnemii, the fascicle length was increased and the pennation angle was decreased in the soleus with an increase of knee flexion. Through the current simulation study of the Silfverskiö, ld test using ultrasonography, we found that the changes detected in the architectural properties of the three muscles induced by systematic variations of the position at the ankle and the knee joints were variable. We believe that the limited utility of the Silfverskiö, ld test should be considered in determining an appropriate operative procedure to correct the equinus deformity in patients with altered architecture of the muscles in conditions such as cerebral palsy, as the differing muscle architectures of the triceps surae complex may affect the behavior of the muscles during the Silfverskiö, ld test.
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- 2019
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40. Concurrent index-to-little finger dorsal dislocations of the carpometacarpal joints with carpal bone fractures
- Author
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Sang-Uk Lee, Sun-Young Joo, Jin-Young Nho, and Ki-Tae Na
- Subjects
Dorsum ,musculoskeletal diseases ,medicine.medical_specialty ,Carpometacarpal joint ,Case Report ,trapezoid fracture ,03 medical and health sciences ,Fixation (surgical) ,0302 clinical medicine ,lcsh:Orthopedic surgery ,Joint capsule ,medicine ,hamate fracture ,Dorsal approach ,Orthopedics and Sports Medicine ,Orthodontics ,030222 orthopedics ,carpometacarpal joint fracture-dislocation ,business.industry ,030229 sport sciences ,Little finger ,musculoskeletal system ,body regions ,Carpal bones ,lcsh:RD701-811 ,medicine.anatomical_structure ,Orthopedic surgery ,business - Abstract
A 32-year-old man presented with simultaneous dorsal dislocations of the index-to-little finger carpometacarpal (CMC) joint with carpal bone fractures. Closed reduction was unsuccessful even after general anesthesia. During open dorsal approach, we found interposed joint capsule in the CMC joints and after removal of the joint capsule open reduction was easily achieved. We placed four Kirschner wires through the CMC joint. Furthermore, the fractured dorsal fragments of the trapezoid and hamate were fixed with mini screw in each. During 1-year followup, the patient showed good recovery and no evidence of posttraumatic arthritic changes in plain X-ray. We recommend to fix the dorsal fragment of the carpal bone with screws as well as the transarticular fixation of the CMC joint in case of concurrent CMC joint fracture-dislocation of all four fingers.
- Published
- 2019
41. Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants
- Author
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Velez, Gabriel, primary, Sun, Young Joo, additional, Khan, Saif, additional, Yang, Jing, additional, Herrmann, Jonathan, additional, Chemudupati, Teja, additional, MacLaren, Robert E., additional, Gakhar, Lokesh, additional, Wakatsuki, Soichi, additional, Bassuk, Alexander G., additional, and Mahajan, Vinit B., additional
- Published
- 2020
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42. A physics-based energy function allows the computational redesign of a PDZ domain
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Opuu, Vaitea, primary, Sun, Young Joo, additional, Hou, Titus, additional, Panel, Nicolas, additional, Fuentes, Ernesto J., additional, and Simonson, Thomas, additional
- Published
- 2019
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43. A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators
- Author
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Heon Yung Gee, Seungyeon Lee, Joon Suk Lee, Do Hyeon Cha, Sun Young Joo, Ji Hyun Lee, John Hoon Rim, Dong Hoon Shin, Jinsei Jung, Hye Ji Choi, Min Goo Lee, Young Ik Koh, Jae Young Choi, and Seyoung Yu
- Subjects
Adult ,Male ,0301 basic medicine ,Mutant ,CHO Cells ,Deafness ,Biology ,medicine.disease_cause ,Young Adult ,03 medical and health sciences ,Cricetulus ,Mutant protein ,Cricetinae ,Republic of Korea ,Exome Sequencing ,Genetics ,medicine ,Animals ,Humans ,Missense mutation ,Genetics (clinical) ,Exome sequencing ,Aged ,Mutation ,KCNQ Potassium Channels ,Haplotype ,Middle Aged ,Pedigree ,Potassium channel activity ,Kinetics ,Protein Subunits ,HEK293 Cells ,Phenotype ,030104 developmental biology ,Child, Preschool ,Female ,Ion Channel Gating ,KCNQ4 - Abstract
Mutations in potassium voltage-gated channel subfamily Q member 4 (KCNQ4) are etiologically linked to nonsyndromic hearing loss (NSHL), deafness nonsyndromic autosomal dominant 2 (DFNA2). To identify causative mutations of hearing loss in 98 Korean families, we performed whole exome sequencing. In four independent families with NSHL, we identified a cosegregating heterozygous missense mutation, c.140T>C (p.Leu47Pro), in KCNQ4. Individuals with the c.140T>C KCNQ4 mutation shared a haplotype flanking the mutated nucleotide, suggesting that this mutation may have arisen from a common ancestor in Korea. The mutant KCNQ4 protein could reach the plasma membrane and interact with wild-type (WT) KCNQ4, excluding a trafficking defect; however, it exhibited significantly decreased voltage-gated potassium channel activity and fast deactivation kinetics compared with WT KCNQ4. In addition, when co-expressed with WT KCNQ4, mutant KCNQ4 protein exerted a dominant-negative effect. Interestingly, the channel activity of the p.Leu47Pro KCNQ4 protein was rescued by the KCNQ activators MaxiPost and zinc pyrithione. The c.140T>C (p.Leu47Pro) mutation in KCNQ4 causes progressive NSHL; however, the defective channel activity of the mutant protein can be rescued using channel activators. Hence, in individuals with the c.140T>C mutation, NSHL is potentially treatable, or its progression may be delayed by KCNQ activators.
- Published
- 2018
44. Transplantation of a Scaffold-Free Cartilage Tissue Analogue for the Treatment of Physeal Cartilage Injury of the Proximal Tibia in Rabbits
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Jae Young Lee, Sang-Uk Lee, Sun Young Joo, Changhoon Jeong, and Yong Suk Lee
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0301 basic medicine ,Scaffold ,growth plate injury ,surgical treatment ,Cell Culture Techniques ,Mesenchymal Stem Cell Transplantation ,Transplantation, Autologous ,Chondrocyte ,angular deformity ,03 medical and health sciences ,Chondrocytes ,Tissue engineering ,Deformity ,medicine ,Animals ,Transplantation, Homologous ,Tibia ,Growth Plate ,Cells, Cultured ,Bone Transplantation ,Tissue Engineering ,business.industry ,Cartilage ,General Medicine ,Anatomy ,bone bridge ,Transplantation ,030104 developmental biology ,medicine.anatomical_structure ,Orthopedics ,chondrocyte ,Cartilage tissue analogue ,Original Article ,Rabbits ,medicine.symptom ,business ,Angular deformity - Abstract
PURPOSE The purpose of this study was to investigate the effects of transplantation of an in vitro-generated, scaffold-free, tissue-engineered cartilage tissue analogue (CTA) using a suspension chondrocyte culture in a rabbit growth-arrest model. MATERIALS AND METHODS We harvested cartilage cells from the articular cartilage of the joints of white rabbits and made a CTA using a suspension culture of 2×10⁷ cells/mL. An animal growth plate defect model was made on the medial side of the proximal tibial growth plate of both tibias of 6-week-old New Zealand white rabbits (n=10). The allogenic CTA was then transplanted onto the right proximal tibial defect. As a control, no implantation was performed on the left-side defect. Plain radiographs and the medial proximal tibial angle were obtained at 1-week intervals for evaluation of bone bridge formation and the degree of angular deformity until postoperative week 6. We performed a histological evaluation using hematoxylin-eosin and Alcian blue staining at postoperative weeks 4 and 6. RESULTS Radiologic study revealed a median medial proximal tibial angle of 59.0° in the control group and 80.0° in the CTA group at 6 weeks. In the control group, statistically significant angular deformities were seen 3 weeks after transplantation (p
- Published
- 2016
45. Novel Mutation (c.8725T>C) in Two Siblings With Late-Onset LAMA2-Related Muscular Dystrophy
- Author
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Seungok Lee, Young Chul Choi, Ja Hyun Jang, Min Wook Kim, Jung Hwan Lee, Jun Kang, Eun Hae Cho, Dae Hyun Jang, and Sun Young Joo
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0301 basic medicine ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,biology ,business.industry ,Biochemistry (medical) ,Clinical Biochemistry ,Magnetic resonance imaging ,Late onset ,General Medicine ,medicine.disease ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Text mining ,Laminin ,medicine ,biology.protein ,Muscular dystrophy ,business ,Letter to the Editor ,Diagnostic Genetics ,Novel mutation ,030217 neurology & neurosurgery - Published
- 2017
46. SGEF forms a complex with Scribble and Dlg1 and regulates epithelial junctions and contractility
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Awadia, Sahezeel, primary, Huq, Farah, additional, Arnold, Torey R., additional, Goicoechea, Silvia M., additional, Sun, Young Joo, additional, Hou, Titus, additional, Kreider-Letterman, Gabriel, additional, Massimi, Paola, additional, Banks, Lawrence, additional, Fuentes, Ernesto J., additional, Miller, Ann L., additional, and Garcia-Mata, Rafael, additional
- Published
- 2019
- Full Text
- View/download PDF
47. Structural Insights into the Unique Activation Mechanisms of a Non-Classical Calpain and its Disease-Causing Variants
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Velez, Gabriel, primary, Sun, Young Joo, additional, Khan, Saif, additional, Yang, Jing, additional, Herrmann, Jonathan, additional, Chemudupati, Teja, additional, MacLaren, Robert E., additional, Gakhar, Lokesh, additional, Wakatsuki, Soichi, additional, Bassuk, Alexander G., additional, and Mahajan, Vinit, additional
- Published
- 2019
- Full Text
- View/download PDF
48. Stress fracture of tarsal cuboid bone in early childhood
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Sun Young Joo and Changhoon Jeong
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Male ,Fractures, Stress ,Radiography ,medicine.disease_cause ,Weight-bearing ,Weight-Bearing ,Cuboid bone ,Humans ,Medicine ,Orthopedics and Sports Medicine ,Radionuclide imaging ,Early childhood ,Radionuclide Imaging ,Gait ,Orthodontics ,Cuboid ,medicine.diagnostic_test ,business.industry ,Infant ,Tarsal Bones ,Anatomy ,respiratory tract diseases ,Early Diagnosis ,Bone scintigraphy ,Child, Preschool ,Fracture (geology) ,Female ,Surgery ,business - Abstract
We present the clinical characteristics, radiographic, and bone scintigraphy finding of the cuboid fracture in early childhood.From 2008 to 2012, we identified 25 patients (13 boys and 12 girls) with cuboid fracture who were seen in our institution. Medical records and radiographs as well as bone scintigraphy of 25 patients were reviewed. Nutcracker test was performed as a provocation test.The mean age of the patients was 24.7 months (range 15-38 months). The average duration of symptom before visit was 7 days (range 2-14 days). Most of the parents/caregivers (76 %) did not recall a traumatic episode. Patterns of limping were variable. Nutcracker test was positive in 11 patients. In 10 of 25 patients, initial plain radiographs of the foot showed no abnormal finding. The average duration of symptom of these patients was 4.5 days (range 2-7 days). In 15 patients, the radiograph of the foot showed sclerosis along the base of the cuboid. Bone scintigraphy of the patients with normal radiograph showed hot spot in cuboid. Eleven patients visited our institution to seek for second opinion as their child has persistent limping gait.It is not always possible to make an early diagnosis of this fracture since the initial radiographic finding and physical examination are often negative. Considering the consequences of a missed fracture and avoiding unnecessary treatment, bone scan might be useful in the early diagnosis of the stress fracture of the cuboid in young children.Diagnostic study, Level IV.
- Published
- 2014
49. A Simple PB/LIE Free Energy Function Accurately Predicts the Peptide Binding Specificity of the Tiam1 PDZ Domain
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Panel, Nicolas, primary, Sun, Young Joo, additional, Fuentes, Ernesto J., additional, and Simonson, Thomas, additional
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- 2017
- Full Text
- View/download PDF
50. Recurrence after surgery for equinus foot deformity in children with cerebral palsy: Assessment of predisposing factors for recurrence in a long-term follow-up study
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Sun Young Joo, Laurens Holmes, Durga N. Knowtharapu, Kenneth J. Rogers, and Freeman Miller
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medicine.medical_specialty ,business.industry ,Long term follow up ,Medical record ,Diplegia ,medicine.disease ,Cerebral palsy ,Surgery ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Orthopedic surgery ,Original Clinical Article ,Medicine ,Orthopedics and Sports Medicine ,Ankle ,business ,Foot deformity ,Survival analysis - Abstract
Background Despite the large number of studies on the recurrence after surgery for equinus foot deformity in cerebral palsy (CP) patients, only a few investigations have reported long-term recurrence rates. Furthermore, little is known on the interval between the recurrent surgeries and the factors that lead to early recurrence. This study aimed to assess the overall recurrence after surgery for equinus foot deformity in patients with CP and to assess the factors associated with recurrence. We also aimed to determine the predisposing factors for early recurrence. Methods The medical records of 186 patients (308 feet) were reviewed in order to determine the recurrence after surgery for equinus foot deformity. The type of CP, type of surgery, age at surgery, functional mobility, passive dorsiflexion of the ankle at the last follow-up visit, and subsequent treatment were recorded. Kaplan–Meier survival analysis was employed, with the end point defined as reoperation. Results The mean age at surgery was 6.8 ± 2.5 years (range, 2.2–13.1). With the mean follow-up period of 11.3 years (range, 7.2–17.7), the overall recurrence rate was 43.8%. The recurrence rate was highest among patients with hemiplegia (62.5%). The Kaplan–Meier survival without repeat surgery estimate was shown to be 88.6% at 5 years and 59.6% at 10 years. Among children with hemiplegia and diplegia, the younger children (≤8 years of age) showed a higher rate of recurrence compared with the older children ( P = 0.04 and P = 0.01, respectively). In 41 feet (30.4%), reoperations were performed within 5 years after the primary surgery. Early recurrence was most prevalent among children with hemiplegia (50.0%). In children with diplegia and quadriplegia, the younger children underwent the secondary operation later than the older children ( P = 0.04 and P = 0.02, respectively). Conclusion Recurrence after surgery for equinus foot deformity is common and the age at surgery has a significant influence on recurrence. Recurrence can occur at any age while the child is still growing; therefore, it is advised to follow those patients until they reach skeletal maturity. Level of Evidence Level III, therapeutic study.
- Published
- 2011
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