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Your search keyword '"Xu, Christine L."' showing total 36 results
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36 results on '"Xu, Christine L."'

1. Telemedicine retinopathy of prematurity severity score (TeleROP-SS) versus modified activity score (mROP-ActS) retrospective comparison in SUNDROP cohort

Author

Xu, Christine L., Adu-Brimpong, Joel, Moshfeghi, Henry P., Rosenblatt, Tatiana R., Yu, Michael D., Ji, Marco H., Wang, Sean K., Zaidi, Moosa, Ghoraba, Hashem, Michalak, Suzanne, Callaway, Natalia F., Kumm, Jochen, Nudleman, Eric, Wood, Edward H., Patel, Nimesh A., Stahl, Andreas, Lepore, Domenico, and Moshfeghi, Darius M.

Published
2023
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4. List of contributors

Author

Chang, Angela Y., primary, Jo, Dong Hyun, additional, Kim, Jeong Hun, additional, Kim, Jin Hyoung, additional, Moore, C.B. Tara, additional, Nesbit, M. Andrew, additional, Scollan, Margaret E., additional, Sher, Falak, additional, Sproul, Andrew A., additional, Tezel, Alangoya, additional, Tsang, Stephen H., additional, and Xu, Christine L., additional

Published
2022
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11. Diagnostic and Therapeutic Challenges

Author

Huang, Chu-Yen, Kang, Eugene Yu-Chuan, Kuo, Hung-Chou, Chen, Chiung-Mei, Lo, Fu-Sung, Yeh, Lung-Kun, Chen, Kuan-Jen, Wang, Nan-Kai, Takahashi, Vitor K.L., Xu, Christine L., and Tsang, Stephen H.

Published
2020
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14. REPRODUCTIVE OPHTHALMOLOGY

Author

Park, Jong G., primary, Xu, Christine L., additional, Boyd, Allison, additional, Aghajanova, Lusine, additional, Mahajan, Vinit B., additional, and Wood, Edward H., additional

Published
2022
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20. Progressive RPE atrophy and photoreceptor death in KIZ-associated autosomal recessive retinitis pigmentosa

Author

Yuchen Lin, Xu, Christine L., Breazzano, Mark P., Tanaka, Akemi J., Ryu, Joseph, Levi, Sarah R., Yao, Ke, Sparrow, Janet R., and Tsang, Stephen H.

Subjects
genetic structures, sense organs, eye diseases
Abstract

Background: To evaluate the long-term progression of autosomal recessive retinitis pigmentosa (RP) due to mutations in KIZ using multimodal imaging and a quantitative analytical approach. Methods: Whole exome sequencing (WES) and targeted capture sequencing were used to identify mutation. Fundus photography, short-wavelength autofluorescence (SW-AF), spectral-domain optical coherence tomography (SD-OCT) imaging, and electroretinography (ERG) were analyzed. Serial measurements of peripheral retinal pigment epithelium (RPE) atrophy area with SW-AF, as well as the ellipsoid zone (EZ) width using SD-OCT were performed. Results: Two homozygous variants in KIZ—a c.226C>T mutation as well as a previously unreported c.119_122delAACT mutation—were identified in four unrelated patients. Fundus examination and ERG revealed classic rod-cone dysfunction, and SD-OCT demonstrated outer retinal atrophy with centrally preserved EZ line. SW-AF imaging revealed hyperautofluorescent rings with surrounding parafoveal, mid-peripheral and widespread loss of autofluorescence. The RPE atrophy area increased annually by 4.9%. Mean annual exponential rates of decline for KIZ patients were 8.5% for visual acuity and 15.9% for 30 Hz Flicker amplitude. The average annual reduction distance of the EZ distance was 66.5 μm per year. Conclusions: RPE atrophy progresses along with a loss of photoreceptors, and parafoveal RPE hypoautofluorescence is commonly seen in KIZ-associated RP patients. KIZ-associated RP is an early-onset severe rod-cone dystrophy.

Published
2020
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27. Diagnostic and Therapeutic Challenges

Author

Huang, Chu-Yen, primary, Kang, Eugene Yu-Chuan, additional, Kuo, Hung-Chou, additional, Chen, Chiung-Mei, additional, Lo, Fu-Sung, additional, Yeh, Lung-Kun, additional, Chen, Kuan-Jen, additional, Wang, Nan-Kai, additional, Takahashi, Vitor K.L., additional, Xu, Christine L., additional, and Tsang, Stephen H., additional

Published
2018
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30. Clustered Regularly Interspaced Short Palindromic Repeats-Based Genome Surgery for the Treatment of Autosomal Dominant Retinitis Pigmentosa

Author

Tsai, Yi-Ting, primary, Wu, Wen-Hsuan, additional, Lee, Ting-Ting, additional, Wu, Wei-Pu, additional, Xu, Christine L., additional, Park, Karen S., additional, Cui, Xuan, additional, Justus, Sally, additional, Lin, Chyuan-Sheng, additional, Jauregui, Ruben, additional, Su, Pei-Yin, additional, and Tsang, Stephen H., additional

Published
2018
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35. CRISPR Off-Target Analysis Platforms.

Author

Xu CL, Ruan MZ, Ragi SD, and Tsang SH

Subjects
Genomics
Abstract

The clustered regularly interspaced short palindromic repeats (CRISPR)-Caspase9 (Cas9) system provides a programmable technology that may be used to edit the eukaryotic genome and epigenome. CRISPR/Cas9 includes a guide RNA targeted to a gene of interest which hybridizes to a nucleotide sequence next to a protospacer-adjacent motif (PAM) which guides the Cas9 endonucleases to the target site for cleavage via double-strand breaks. A caveat of the CRISPR/Cas9 system is the creation of off-target double-strand breaks (DSBs) which may result in anomalous insertions, deletions, and translocations. Thus, assays for the sensitive detection and analysis of off-target editing are critical. Here, we describe currently available CRISPR technologies, CRISPR applications, and current analysis platforms to detect off-target effects including genome-wide, unbiased identification of DSBs enabled by sequencing (GUIDE-Seq), high-throughput genomic translocation sequencing (HTGTS), breaks labeling, enrichments on streptavidin and next-generation sequencing (BLESS), and in vitro nuclease-digested genome sequencing (Digenome-seq)., (© 2023. The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature.)

Published
2023
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36. REPRODUCTIVE OPHTHALMOLOGY: The Intersection of Inherited Eye Diseases and Reproductive Technologies.

Author

Park JG, Xu CL, Boyd A, Aghajanova L, Mahajan VB, and Wood EH

Subjects
Pregnancy, Female, Child, Humans, Retrospective Studies, Fertilization in Vitro, Preimplantation Diagnosis methods, Ophthalmology, Eye Diseases, Hereditary genetics
Abstract

Purpose: To propose a working framework for patients with inherited eye diseases presenting to ophthalmologists who are interested in assisted reproductive technology and preimplantation genetic testing., Methods: Retrospective chart review and case series of three families with inherited eye diseases who successfully underwent preimplantation genetic testing, in vitro fertilization, and birth of unaffected children., Results: Preimplantation genetic testing was performed for three families with different inherited eye diseases, which included autosomal dominant retinitis pigmentosa, autosomal recessive achromatopsia, and X-linked Goltz syndrome. Preimplantation genetic testing led to the identification of unaffected embryos, which were then selected for in vitro fertilization and resulted in the birth of unaffected children., Conclusion: A close collaboration between patients, families, ophthalmologists, reproductive genetic counselors, and reproductive endocrinology and infertility specialists is the ideal model for taking care of patients interested in preimplantation genetic testing for preventing the transmission of inherited eye diseases.

Published
2022
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