Search

Your search keyword '"Wong, Lee‐Jun"' showing total 1,216 results
Start Over Author "Wong, Lee‐Jun"
1,216 results on '"Wong, Lee‐Jun"'

1. Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments.

Author

Luo, Shiyu, Valencia, C Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S, and Huang, Taosheng

Subjects
Cell Nucleus, Mitochondria, Humans, DNA, Mitochondrial, Genes, Mitochondrial, Mitochondrial Dynamics
Published
2019

2. Biparental Inheritance of Mitochondrial DNA in Humans.

Author

Luo, Shiyu, Valencia, C Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Fan, Pi-Chuan, Wong, Lee-Jun, Atwal, Paldeep S, and Huang, Taosheng

Subjects
Mitochondria, Humans, Mitochondrial Diseases, DNA, Mitochondrial, Pedigree, Inheritance Patterns, Databases, Genetic, Adult, Middle Aged, Child, Preschool, Female, Male, Genes, Mitochondrial, Genome, Mitochondrial, Maternal Inheritance, Paternal Inheritance, biparental inheritance, human genetics, mitochondria, mtDNA, paternal transmission, Genetics
Abstract

Although there has been considerable debate about whether paternal mitochondrial DNA (mtDNA) transmission may coexist with maternal transmission of mtDNA, it is generally believed that mitochondria and mtDNA are exclusively maternally inherited in humans. Here, we identified three unrelated multigeneration families with a high level of mtDNA heteroplasmy (ranging from 24 to 76%) in a total of 17 individuals. Heteroplasmy of mtDNA was independently examined by high-depth whole mtDNA sequencing analysis in our research laboratory and in two Clinical Laboratory Improvement Amendments and College of American Pathologists-accredited laboratories using multiple approaches. A comprehensive exploration of mtDNA segregation in these families shows biparental mtDNA transmission with an autosomal dominantlike inheritance mode. Our results suggest that, although the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offspring. Elucidating the molecular mechanism for this unusual mode of inheritance will provide new insights into how mtDNA is passed on from parent to offspring and may even lead to the development of new avenues for the therapeutic treatment for pathogenic mtDNA transmission.

Published
2018

7. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Author

Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, and Lupski, James R

Subjects
Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy
Abstract

BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Published
2017

8. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction

Author

Wang, Julia, Rousseau, Justine, Kim, Emily, Ehresmann, Sophie, Cheng, Yi-Ting, Duraine, Lita, Zuo, Zhongyuan, Park, Ye-Jin, Li-Kroeger, David, Bi, Weimin, Wong, Lee-Jun, Rosenfeld, Jill, Gleeson, Joseph, Faqeih, Eissa, Alkuraya, Fowzan S., Wierenga, Klaas J., Chen, Jiani, Afenjar, Alexandra, Nava, Caroline, Doummar, Diane, Keren, Boris, Juusola, Jane, Grompe, Markus, Bellen, Hugo J., and Campeau, Philippe M.

Published
2019
Full Text
View/download PDF

17. Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis.

Author

Hiniker, Annie, Wong, Lee-Jun, Berven, Sigurd, Truong, Cavatina K, Adesina, Adekunle M, and Margeta, Marta

Subjects
Humans, Scoliosis, Mitochondrial Myopathies, Disease Progression, DNA, Mitochondrial, Electron Transport, Aged, Female, Paraspinal Muscles, mtDNA, Mitochondrial myopathy, Camptocormia, Adult scoliosis, DNA, Mitochondrial, Pain Research, Clinical Research, 2.1 Biological and endogenous factors, Musculoskeletal, Biochemistry and Cell Biology, Clinical Sciences, Neurosciences
Abstract

Axial myopathy can be the underlying cause of rapidly progressive adult-onset scoliosis; however, the pathogenesis of this disorder remains poorly understood. Here we present a case of a 69-year old woman with a family history of scoliosis affecting both her mother and her son, who over 4 years developed rapidly progressive scoliosis. The patient had a history of stable scoliosis since adolescence that worsened significantly at age 65, leading to low back pain and radiculopathy. Paraspinal muscle biopsy showed morphologic evidence of a mitochondrial myopathy. Diagnostic deficiencies of electron transport chain enzymes were not detected using standard bioassays, but mitochondrial immunofluorescence demonstrated many muscle fibers totally or partially deficient for complexes I, III, IV-I, and IV-IV. Massively parallel sequencing of paraspinal muscle mtDNA detected multiple deletions as well as a 40.9% heteroplasmic novel m.12293G > A (MT-TL2) variant, which changes a G:C pairing to an A:C mispairing in the anticodon stem of tRNA Leu(CUN). Interestingly, these mitochondrial abnormalities were not detected in the blood of either the patient or her son, suggesting that the patient's rapidly progressive late onset scoliosis was due to the acquired paraspinal mitochondrial myopathy; the cause of non-progressive scoliosis in the other two family members currently remains unexplained. Notably, this case illustrates that isolated mitochondrial myopathy can underlie rapidly-progressive adult-onset scoliosis and should be considered in the differential diagnosis of the primary axial myopathy.

Published
2014

19. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance

Author

Almannai, Mohammed, Wang, Julia, Dai, Hongzheng, El-Hattab, Ayman W., Faqeih, Eissa A., Saleh, Mohammed A., Al Asmari, Ali, Alwadei, Ali H., Aljadhai, Yaser I., AlHashem, Amal, Tabarki, Brahim, Lines, Matthew A., Grange, Dorothy K., Benini, Ruba, Alsaman, Abdulaziz S., Mahmoud, Adel, Katsonis, Panagiotis, Lichtarge, Olivier, and Wong, Lee-Jun C.

Published
2018
Full Text
View/download PDF

22. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

Author

Bacalhau, Mafalda, Simões, Marta, Rocha, Mariana C., Hardy, Steven A., Vincent, Amy E., Durães, João, Macário, Maria C., Santos, Maria João, Rebelo, Olinda, Lopes, Carla, Pratas, João, Mendes, Cândida, Zuzarte, Mónica, Rego, A. Cristina, Girão, Henrique, Wong, Lee-Jun C., Taylor, Robert W., and Grazina, Manuela

Published
2018
Full Text
View/download PDF

23. Heterogeneous patterns of tissue injury in NARP syndrome

Author

Gelfand, Jeffrey M, Duncan, Jacque L, Racine, Caroline A, Gillum, Leslie A, Chin, Cynthia T, Zhang, Yuhua, Zhang, Qing, Wong, Lee-Jun C, Roorda, Austin, and Green, Ari J

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Pediatric, Eye Disease and Disorders of Vision, Genetics, Bioengineering, Brain Disorders, Biomedical Imaging, Neurodegenerative, Clinical Research, Rare Diseases, Neurosciences, 2.1 Biological and endogenous factors, Mental health, Neurological, Eye, Adolescent, Adult, Ataxia, DNA, Mitochondrial, Female, Genetic Heterogeneity, Humans, Middle Aged, Mitochondrial Myopathies, Mitochondrial Proton-Translocating ATPases, Oxidative Phosphorylation Coupling Factors, Phenotype, Point Mutation, Retinitis Pigmentosa, Young Adult, Mitochondrial disorders, Neuroophthalmology, Neuropsychology, Cerebellar disease, Neuropathy, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

Point mutations at m.8993T>C and m.8993T>G of the mtDNA ATPase 6 gene cause the neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome, a mitochondrial disorder characterized by retinal, central and peripheral neurodegeneration. We performed detailed neurological, neuropsychological and ophthalmological phenotyping of a mother and four daughters with NARP syndrome from the mtDNA m.8993T>C ATPase 6 mutation, including 3-T brain MRI, spectral domain optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), electromyography and nerve conduction studies (EMG-NCS) and formal neuropsychological testing. The degree of mutant heteroplasmy for the m.8993T>C mutation was evaluated by real-time allele refractory mutation system quantitative PCR of mtDNA from hair bulbs (ectoderm) and blood leukocytes (mesoderm). There were marked phenotypic differences between family members, even between individuals with the greatest degrees of ectodermal and mesodermal heteroplasmy. 3-T MRI revealed cerebellar atrophy and cystic and cavitary T2 hyperintensities in the basal ganglia. SD-OCT demonstrated similarly heterogeneous areas of neuronal and axonal loss in inner and outer retinal layers. AOSLO showed increased cone spacing due to photoreceptor loss. EMG-NCS revealed varying degrees of length-dependent sensorimotor axonal polyneuropathy. On formal neuropsychological testing, there were varying deficits in processing speed, visual-spatial functioning and verbal fluency and high rates of severe depression. Many of these cognitive deficits likely localize to cerebellar and/or basal ganglia dysfunction. High-resolution retinal and brain imaging in NARP syndrome revealed analogous patterns of tissue injury characterized by heterogeneous areas of neuronal loss.

Published
2011

24. Antimicrobial mitochondrial reactive oxygen species induction by lung epithelial immunometabolic modulation

Author

Wang, Yongxing, primary, Kulkarni, Vikram V., additional, Pantaleón García, Jezreel, additional, Leiva-Juárez, Miguel M., additional, Goldblatt, David L., additional, Gulraiz, Fahad, additional, Vila Ellis, Lisandra, additional, Chen, Jichao, additional, Longmire, Michael K., additional, Donepudi, Sri Ramya, additional, Lorenzi, Philip L., additional, Wang, Hao, additional, Wong, Lee-Jun, additional, Tuvim, Michael J., additional, and Evans, Scott E., additional

Published
2023
Full Text
View/download PDF

26. Adaptive Optics Scanning Laser Ophthalmoscopy Images in a Family with the Mitochondrial DNA T8993C Mutation

Author

Yoon, Michael K, Roorda, Austin, Zhang, Yuhua, Nakanishi, Chiaki, Wong, Lee-Jun C, Zhang, Qing, Gillum, Leslie, Green, Ari, and Duncan, Jacque L

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Neurodegenerative, Rare Diseases, Bioengineering, Clinical Research, Eye Disease and Disorders of Vision, Genetics, 2.1 Biological and endogenous factors, Eye, Adolescent, Adult, Age of Onset, Ataxia, DNA Mutational Analysis, DNA, Mitochondrial, Female, Humans, Lasers, Male, Middle Aged, Muscle Weakness, Ophthalmoscopy, Pedigree, Point Mutation, Polymerase Chain Reaction, Retinal Cone Photoreceptor Cells, Retinitis Pigmentosa, Syndrome, Tomography, Optical Coherence, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

PurposeThis study was designed to assess the effect of mitochondrial DNA (mtDNA) mutation T8993C on cone structure in a family expressing neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP) syndrome.MethodsFive family members were studied, using clinical examination, nerve conduction studies, perimetry, optical coherence tomography (OCT) measures of central retinal thickness, and electroretinography. High-resolution images of cone structure using adaptive optics scanning laser ophthalmoscopy (AOSLO) were obtained in four subjects with stable fixation. Cone spacing was compared to 18 age-similar normal subjects and converted to z-scores at each location where unambiguous cones were identified. Tissue levels of T8993C mutant heteroplasmy in blood and hair follicles were quantified using real-time allele-refractory mutations system (ARMS) quantitative polymerase chain reaction (qPCR).ResultsSubjects expressing the T8993C mutation showed varying levels of disease severity. The subject with the lowest mutant load (42%-54%) showed no neurologic or retinal abnormalities. The remaining four subjects with over 77% mutant load all expressed severe neurologic and/or retinal abnormalities. AOSLO images revealed three patterns of cone spacing: pattern 1, normal; pattern 2, increased cone spacing within a contiguous cone mosaic; and pattern 3, patchy cone loss with increased cone spacing. Visual function was most severely affected in pattern 3.ConclusionsHigh levels of T8993C mutant load were associated with severe neurologic or visual dysfunction, while lower levels caused no detectable abnormalities. Visual function was better in patients with a contiguous and regular cone mosaic. Patients expressing high levels of the mtDNA T8993C mutation show abnormal cone structure, suggesting normal mitochondrial DNA is necessary for normal waveguiding by cones.

Published
2009

27. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

Author

Feng, Yanming, Ge, Xiaoyan, Meng, Linyan, Scull, Jennifer, Li, Jianli, Tian, Xia, Zhang, Tao, Jin, Weihong, Cheng, Hanyin, Wang, Xia, Tokita, Mari, Liu, Pengfei, Mei, Hui, Wang, Yue, Li, Fangyuan, Schmitt, Eric S., Zhang, Wei V., Muzny, Donna, Wen, Shu, Chen, Zhao, Yang, Yaping, Beaudet, Arthur L., Liu, Xiaoming, Eng, Christine M., Xia, Fan, Wong, Lee-Jun, and Zhang, Jinglan

Published
2017
Full Text
View/download PDF

28. G Protein-Coupled Receptor Kinase 4 Gene Variants in Human Essential Hypertension

Author

Felder, Robin A., Sanada, Hironobu, Xu, Jing, Yu, Pei-Ying, Wang, Zheng, Watanabe, Hidetsuna, Asico, Laureano D., Wang, Wei, Zheng, Shaopeng, Yamaguchi, Ikuyo, Williams, Scott M., Gainer, James, Brown, Nancy J., Hazen-Martin, Debra, Wong, Lee-Jun C., Robillard, Jean E., Carey, Robert M., Eisner, Gilbert M., and Jose, Pedro A.

Published
2002

39. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing

Author

Yu, Hui, Zhang, Victor Wei, Stray-Pedersen, Asbjørg, Hanson, Imelda Celine, Forbes, Lisa R., de la Morena, M. Teresa, Chinn, Ivan K., Gorman, Elizabeth, Mendelsohn, Nancy J., Pozos, Tamara, Wiszniewski, Wojciech, Nicholas, Sarah K., Yates, Anne B., Moore, Lindsey E., Berge, Knut Erik, Sorte, Hanne, Bayer, Diana K., ALZahrani, Daifulah, Geha, Raif S., Feng, Yanming, Wang, Guoli, Orange, Jordan S., Lupski, James R., Wang, Jing, and Wong, Lee-Jun

Published
2016
Full Text
View/download PDF

43. Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer

Author

Park, Jun Hyoung, Vithayathil, Sajna, Kumar, Santosh, Sung, Pi-Lin, Dobrolecki, Lacey Elizabeth, Putluri, Vasanta, Bhat, Vadiraja B., Bhowmik, Salil Kumar, Gupta, Vineet, Arora, Kavisha, Wu, Danli, Tsouko, Efrosini, Zhang, Yiqun, Maity, Suman, Donti, Taraka R., Graham, Brett H., Frigo, Daniel E., Coarfa, Cristian, Yotnda, Patricia, Putluri, Nagireddy, Sreekumar, Arun, Lewis, Michael T., Creighton, Chad J., Wong, Lee-Jun C., and Kaipparettu, Benny Abraham

Published
2016
Full Text
View/download PDF

45. Response to Bai et al.

Author

Wong, Lee-Jun C., Chen, Ting, Schmitt, Eric S., Wang, Jing, Zhang, Shulin, Landsverk, Megan, Li, Fangyuan, Tang, Sha, Wang, Yue, Zhang, Victor Wei, and Craigen, William J.

Published
2020
Full Text
View/download PDF

47. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA

Author

Zhang, Jinglan, Li, Jianli, Saucier, Jennifer B., Feng, Yanming, Jiang, Yanjun, Sinson, Jefferson, McCombs, Anne K., Schmitt, Eric S., Peacock, Sandra, Chen, Stella, Dai, Hongzheng, Ge, Xiaoyan, Wang, Guoli, Shaw, Chad A., Mei, Hui, Breman, Amy, Xia, Fan, Yang, Yaping, Purgason, Anne, Pourpak, Alan, Chen, Zhao, Wang, Xia, Wang, Yue, Kulkarni, Shashikant, Choy, Kwong Wai, Wapner, Ronald J., Van den Veyver, Ignatia B., Beaudet, Arthur, Parmar, Sheetal, Wong, Lee-Jun, and Eng, Christine M.

Published
2019
Full Text
View/download PDF

50. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Author

Stockler-Ipsiroglu, Sylvia, Apatean, Delia, Battini, Roberta, DeBrosse, Suzanne, Dessoffy, Kimberley, Edvardson, Simon, Eichler, Florian, Johnston, Katherine, Koeller, David M., Nouioua, Sonia, Tazir, Meriem, Verma, Ashok, Dowling, Monica D., Wierenga, Klaas J., Wierenga, Andrea M., Zhang, Victor, and Wong, Lee-Jun C.

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results