Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Periasamy Sundaresan"'
Autor:
Xianjun Zhu, Shujin Li, Lulin Huang, Mu Yang, Zhenglin Yang, Periasamy Sundaresan, Rulian Zhao, Chen Chen
Publikováno v:
Genetic Testing and Molecular Biomarkers. 25:399-404
Background: Familial exudative vitreoretinopathy (FEVR), a group of rare inherited retinal vascular disorders, is the major cause of vision loss in juveniles. At present, the diagnosis of FEVR rema...
Publikováno v:
TNOA Journal of Ophthalmic Science and Research. 61:41
Autor:
Lulin Huang, Xiong Zhu, Kuanxiang Sun, Shi Ma, Zhenglin Yang, Periasamy Sundaresan, Fang Hao, Xianjun Zhu
Publikováno v:
Genetic Testing and Molecular Biomarkers. 24:92-98
Background: Familial exudative vitreoretinopathy (FEVR) is an inheritable retinal vascular disease, which often leads to severe vision loss and blindness in children. However, reported mutations can only account for 50-60% of patients with FEVR. The
Publikováno v:
Gene. 819
Leber's Hereditary Optic Neuropathy (LHON) is a rare mitochondriopathy causing retinal ganglion cell degeneration resulting in central vision loss. It is caused by mitochondrial DNA (mtDNA) mutations and thus follows maternal inheritance pattern.We a
Autor:
Yi Huang, Fang Hao, Ye Yuan, Shi Ma, Zhenglin Yang, Xiang Zhang, Peiquan Zhao, Ping Fei, Xianjun Zhu, Yeming Yang, Shanshan Zhang, Xiong Zhu, Mu Yang, Hui-Juan Xu, Lulin Huang, Lin Zhang, Periasamy Sundaresan, Weiquan Zhu, Shujin Li
Publikováno v:
J Clin Invest
Familial exudative vitreoretinopathy (FEVR) is a severe retinal vascular disease that causes blindness. FEVR has been linked to mutations in several genes associated with inactivation of the Norrin/β-catenin signaling pathway, but these account for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a79a177cc1db7459d85c8be87349ba5
https://europepmc.org/articles/PMC7954601/
https://europepmc.org/articles/PMC7954601/
Autor:
Xianjun Zhu, Shujin Li, Wenjing Liu, Lulin Huang, Kim Ramasamy, Zhenglin Yang, Lin Zhang, Mu Yang, Periasamy Sundaresan, Yeming Yang, Zhilin Jiang, Yu Zhou
Publikováno v:
Human Molecular Genetics. 27:2563-2572
Retinitis pigmentosa (RP) refers to a group of retinal degenerative diseases, which often lead to vision loss. Although 70 genes have been identified in RP patients, the genetic cause of approximately 30% of RP cases remains unknown. We aimed to iden
Publikováno v:
Genetic Testing and Molecular Biomarkers. 21:252-258
Background: Primary congenital glaucoma (PCG) is a severe ocular disorder that presents early in life. Cytochrome P4501B1 (CYP1B1) and latent transforming growth factor-beta-binding protein 2 (LTBP2) are the most commonly mutated genes in PCG. Aim: T
Autor:
Fotis Topouzis, Daniel Berner, Susan Williams, Yury S. Astakhov, Francesca Pasutto, Trevor R. Carmichael, Steffen Uebe, Farah Akhtar, Tin Aung, Raheel Qamar, James Julian Ross, Matthias Zenkel, Friedrich E. Kruse, Mineo Ozaki, Periasamy Sundaresan, Michael V. Dubina, Paolo Frezzotti, Robyn M. Rautenbach, André Reis, Ursula Schlötzer-Schrehardt, Anthi Chatzikyriakidou, Alexandros Lambropoulos, Marisa Cruz-Aguilar, Daniela Paoli, Chiea Chuen Khor, Juan Carlos Zenteno, Ursula Hoja, Michèle Ramsay, Ari Ziskind, Janey L. Wiggs, Humaira Ayub
Publikováno v:
Human Molecular Genetics
LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of the extracellular matrix and frequent cause of chronic open-angle glaucoma. However, all known PEX-associated commo
Autor:
Valerie C. Fleisch, Nathan Corbett, Drummond Gt, Tim Footz, Andrew J. Waskiewicz, Karyn M. Berry-Wynne, Ming Ye, Curtis R. French, W. Ted Allison, Mika Asai-Coakwell, Michael A. Walter, Ordan J. Lehmann, T. Michael Underhill, Marc Abitbol, Periasamy Sundaresan
Publikováno v:
Human Molecular Genetics. 19:287-298
Ocular mal-development results in heterogeneous and frequently visually disabling phenotypes that include coloboma and microphthalmia. Due to the contribution of bone morphogenetic proteins to such processes, the function of the paralogue Growth Diff
Autor:
Ordan J. Lehmann, Matthew B. Dobbs, Michael R. Doschak, Periasamy Sundaresan, T. Michael Underhill, Arcady Mushegian, B. Chanda, Perumalsamy Vijayalakshmi, Guang Li, Andrew J. Waskiewicz, Karen Staehling-Hampton, Curtis R. French, Anoja Perera, Steven Bamforth, Olivier Pourquié, Yves Sauve, Karin Bigot, Marc Abitbol, Silvina C. Mema, Brian P. Brooks, Ming Ye, Veronica van Heyningen, Philip F. Giampietro, Mika Asai-Coakwell, Kamal Garcha
Publikováno v:
Human Molecular Genetics. 18:1110-1121
Proteins of the bone morphogenetic protein (BMP) family are known to have a role in ocular and skeletal development; however, because of their widespread expression and functional redundancy, less progress has been made identifying the roles of indiv