Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Periasamy Sundaresan"'
Autor:
Vijayalakshmi Perumalsamy, Rupa Anjanamurthy, Periasamy Sundaresan, Devarajan Bharanidharan, Ayyasamy Vanniarajan, Sriee Viswarubhiny
Publikováno v:
Eye and Vision, Vol 8, Iss 1, Pp 1-11 (2021)
Eye and Vision
Eye and Vision
Background Leber congenital amaurosis (LCA), primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy (IRD) responsible for congenital blindness. The presence of phenotypic heterogeneity makes the diagnos
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
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/
Publikováno v:
Mitochondrion. 36:21-28
Leber's hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) associated neurodegenerative disorder of retinal ganglion cells. In this study, whole mitochondrial genome sequencing of 75 LHON patients and 40 controls was performed to ident
Autor:
Bo Gong, Periasamy Sundaresan, Zhenglin Yang, Yin Yang, Xianjun Zhu, Yeming Yang, Zhilin Jiang, Yu Zhou, Lulin Huang, Jie Li, Hao Fang, Yaru Zhai, Ramasamy Kim
Publikováno v:
Scientific Reports
Retinitis pigmentosa (RP) is a leading cause of inherited blindness characterized by progressive degeneration of the retinal photoreceptor cells. This study aims to identify genetic mutations in a Chinese family RP-2236, an Indian family RP-IC-90 and
Autor:
Kannan Parthiban, Arndt Rolfs, Hui Huang, Renugadevi Kathirvel, Rosanne B Keep, Periasamy Sundaresan, Perumalsamy Vijayalakshmi, Karthikeyan Arcot Sadagopan
Publikováno v:
Ophthalmic genetics. 38(2)
Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lyso...
Autor:
Wei Du, Xiaoqui Liu, Dean Y. Li, Yuanli Zhen, Sushil Kumar Dubey, Jiamei Dong, Barry H. Paw, Lejin Wang, Fei He, John D. Phillips, Paul F. McBride, Yi Shi, Chen Liang, Jing Li, Wei Li, Jeffrey D. Cooney, Fang Lu, Ying Lin, Zhenglin Yang, Bo Gong, Yanlei Jia, Kathleen A. Soltis, Prasanthi Namburi, Periasamy Sundaresan, Juan Bu
Publikováno v:
The American Journal of Human Genetics. 90(1):40-48
Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity. Using a positional cloning approach, we identified a mutation in the AT
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:
Lara Moumné, Reiner A. Veitia, Jeyabalan Nallathambi, Corinne Lesaffre, Pj Eswari Pandaranayaka, Frank Batista, Bérénice A. Benayoun, Sankaran Krishnaswamy, Kim Usha, Paul Laissue, Periasamy Sundaresan
Publikováno v:
Human Mutation. 29:E123-E131
Mutations of the transcription factor FOXL2, involved in cranio-facial and ovarian development lead to the Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) in human. Here, we describe nine mutations in the open reading frame of FOXL2. Six
Attenuated, Replication-Competent Herpes Simplex Virus Type 1 Mutant G207: Safety Evaluation in Mice
Publikováno v:
Journal of Virology. 74:3832-3841
Herpes simplex virus type 1 (HSV-1) mutants that are attenuated for neurovirulence are being used for the treatment of cancer. We have examined the safety of G207, a multimutated replication-competent HSV-1 vector, in mice. BALB/c mice inoculated int