Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Periasamy Sundaresan"'
Autor:
Susmita Chowdhury, Prakash Chermakani, Girish Baliga, Rupa Anjanamurthy, Periasamy Sundaresan
Publikováno v:
Indian Journal of Ophthalmology, Vol 72, Iss 6, Pp 902-911 (2024)
Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X-linked recessive inheritance due to RS1 gene mutations. This study aims to uncover the RS1 mutation spectrum in a cohort of 22 X
Externí odkaz:
https://doaj.org/article/1b52d8042d7a4c338ed97a749f04ab7f
Publikováno v:
EXCLI Journal : Experimental and Clinical Sciences, Vol 22, Pp 1077-1091 (2023)
Leber's hereditary optic neuropathy (LHON) is a mitochondrial complex I disorder and causes inexorable painless vision loss. Recent studies from India reported that a significant proportion of LHON patients lack primary mitochondrial DNA mutations, s
Externí odkaz:
https://doaj.org/article/3b05a3f4a4cc406babdb0edc044772b1
Publikováno v:
TNOA Journal of Ophthalmic Science and Research, Vol 61, Iss 1, Pp 41-45 (2023)
Traboulsi syndrome is a multi-organ disorder typically characterized by pleiotropic manifestations including facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB). It is caused by mutations in t
Externí odkaz:
https://doaj.org/article/a5c23953a4d1412a99187e9b6e0616a8
Autor:
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan
Publikováno v:
Eye and Vision, Vol 8, Iss 1, Pp 1-11 (2021)
Abstract 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 th
Externí odkaz:
https://doaj.org/article/25f9a15be55f4885afed5e711f44e48f
Autor:
Mohd Hussain Shah, Manojkumar Kumaran, Prakash Chermakani, Mohideen Abdul Kader, R Ramakrishnan, Subbiah R Krishnadas, Bharanidharan Devarajan, Periasamy Sundaresan
Publikováno v:
Indian Journal of Ophthalmology, Vol 69, Iss 9, Pp 2461-2468 (2021)
Purpose: To identify the pathogenic variants associated with primary open-angle glaucoma (POAG) using whole-exome sequencing (WES) data of a large South Indian family. Methods: We recruited a large five-generation South Indian family (n = 84) with a
Externí odkaz:
https://doaj.org/article/a4c7553f22ef49fea6b782e656a4797a
Autor:
Ekaterina Yonova-Doing, Wanting Zhao, Robert P. Igo, Chaolong Wang, Periasamy Sundaresan, Kristine E. Lee, Gyungah R. Jun, Alexessander Couto Alves, Xiaoran Chai, Anita S. Y. Chan, Mei Chin Lee, Allan Fong, Ava G. Tan, Chiea Chuen Khor, Emily Y. Chew, Pirro G. Hysi, Qiao Fan, Jacqueline Chua, Jaeyoon Chung, Jiemin Liao, Johanna M. Colijn, Kathryn P. Burdon, Lars G. Fritsche, Maria K. Swift, Maryam H. Hilmy, Miao Ling Chee, Milly Tedja, Pieter W. M. Bonnemaijer, Preeti Gupta, Queenie S. Tan, Zheng Li, Eranga N. Vithana, Ravilla D. Ravindran, Soon-Phaik Chee, Yuan Shi, Wenting Liu, Xinyi Su, Xueling Sim, Yang Shen, Ya Xing Wang, Hengtong Li, Yih-Chung Tham, Yik Ying Teo, Tin Aung, Kerrin S. Small, Paul Mitchell, Jost B. Jonas, Tien Yin Wong, Astrid E. Fletcher, Caroline C. W. Klaver, Barbara E. K. Klein, Jie Jin Wang, Sudha K. Iyengar, Christopher J. Hammond, Ching-Yu Cheng
Publikováno v:
Communications Biology, Vol 3, Iss 1, Pp 1-8 (2020)
Here, the authors report a multi-ethnic genome wide association meta-analysis of 12 studies from the International Cataract Genetics Consortium. They find six new loci associated with age-related nuclear cataract, in addition to replicating the assoc
Externí odkaz:
https://doaj.org/article/59d197cca67a4e4b95995e668e03898d
Autor:
Rajendran Kadarkarai Raj, Pankaja Dhoble, Rupa Anjanamurthy, Prakash Chermakani, Manojkumar Kumaran, Bharanidharan Devarajan, Periasamy Sundaresan
Publikováno v:
Eye and Vision, Vol 7, Iss 1, Pp 1-10 (2020)
Abstract Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal
Externí odkaz:
https://doaj.org/article/f39a3c24ebfa473a8f11f8f027d3f845
Autor:
Anshuman Verma, Vijayalakshmi Perumalsamy, Shashikant Shetty, Maigi Kulm, Periasamy Sundaresan
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e73172 (2013)
BACKGROUND: Leber congenital amaurosis (LCA) is the most severe form of inherited retinal visual impairment in children. So far, mutations in more than 20 genes have been known to cause LCA and among them, RPE65 is a suitable candidate for gene thera
Externí odkaz:
https://doaj.org/article/6442777083314d8c9bdfea86f44dcad0
Autor:
Periasamy Sundaresan, Ravilla D Ravindran, Praveen Vashist, Ashwini Shanker, Dorothea Nitsch, Badrinath Talwar, Giovanni Maraini, Monica Camparini, Bareng Aletta S Nonyane, Liam Smeeth, Usha Chakravarthy, James F Hejtmancik, Astrid E Fletcher
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e33001 (2012)
We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India.We carried out a population-based genetic association study. We enumerated randomly sampled villages
Externí odkaz:
https://doaj.org/article/0c80ef71b1f6460192ba88c4cf685d80
Autor:
Shujin Li, Mu Yang, Yunqi He, Xiaoyan Jiang, Rulian Zhao, Wenjing Liu, Lulin Huang, Yi Shi, Xiao Li, Kuanxiang Sun, Yeming Yang, Periasamy Sundaresan, Peiquan Zhao, Zhenglin Yang, Xianjun Zhu
Publikováno v:
Journal of Genetics and Genomics. 49:590-594