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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 9 (of 9 Records)

Query Trace: Disease and CRYAA[original query]
A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.
Biochimica et biophysica acta 2009 Jul .
Bhagyalaxmi SG, Srinivas PN, Barton KA, Kumar KR, Vidyavathi M, Petrash JM, Reddy GB, Padma T
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
G3 (Bethesda, Md.) 2017 8 7 (10): 3257-3268.
Javadiyan Shari, Craig Jamie E, Souzeau Emmanuelle, Sharma Shiwani, Lower Karen M, Mackey David A, Staffieri Sandra E, Elder James E, Taranath Deepa, Straga Tania, Black Joanna, Pater John, Casey Theresa, Hewitt Alex W, Burdon Kathryn
Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.
Molecular syndromology 2017 Jun 8 (4): 179-186.
Patel Rashmi, Zenith Ravish K, Chandra Abhishek, Ali Akht
A silent mutation in human alpha-A crystallin gene in patients with age-related nuclear or cortical cataract.
Bosnian journal of basic medical sciences 2017 Feb .
Mynampati Bharani K, Muthukumarappa Thungapathra, Ghosh Sujata, Ram Jag
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.
Orphanet journal of rare diseases 2018 6 13 (1): 94.
Li Jingyan, Leng Yunji, Han Shirui, Yan Lulu, Lu Chaoxia, Luo Yang, Zhang Xue, Cao Lih
Mutation screening of crystallin genes in Chinese families with congenital cataracts.
Molecular vision 2019 9 25 427-437.
Zhuang Jianfu, Cao Zongfu, Zhu Yihua, Liu Lijuan, Tong Yi, Chen Xiaole, Wang Yaduan, Lu Cailing, Ma Xu, Yang Juh
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. GWAS Catalog
Communications biology 2020 Dec 3 (1): 755.
Yonova-Doing Ekaterina, Zhao Wanting, Igo Robert P, Wang Chaolong, Sundaresan Periasamy, Lee Kristine E, Jun Gyungah R, Alves Alexessander Couto, Chai Xiaoran, Chan Anita S Y, Lee Mei Chin, Fong Allan, Tan Ava G, Khor Chiea Chuen, Chew Emily Y, Hysi Pirro G, Fan Qiao, Chua Jacqueline, Chung Jaeyoon, Liao Jiemin, Colijn Johanna M, Burdon Kathryn P, Fritsche Lars G, Swift Maria K, Hilmy Maryam H, Chee Miao Ling, Tedja Milly, Bonnemaijer Pieter W M, Gupta Preeti, Tan Queenie S, Li Zheng, Vithana Eranga N, Ravindran Ravilla D, Chee Soon-Phaik, Shi Yuan, Liu Wenting, Su Xinyi, Sim Xueling, Shen Yang, Wang Ya Xing, Li Hengtong, Tham Yih-Chung, Teo Yik Ying, Aung Tin, Small Kerrin S, Mitchell Paul, Jonas Jost B, Wong Tien Yin, Fletcher Astrid E, Klaver Caroline C W, Klein Barbara E K, Wang Jie Jin, Iyengar Sudha K, Hammond Christopher J, Cheng Ching-
Deciphering the association of intronic single nucleotide polymorphisms of crystallin gene family with congenital cataract.
Indian journal of ophthalmology 2021 Aug 69 (8): 2064-2070.
Nair Vidya, Sankaranarayanan Rajkumar, Vasavada Abhay Raghuka
Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.
Molecular genetics and genomics : MGG 2023 1 298 (2): 495-506.
Li Li, Yue Jian-Fei, Kong De-Qian, Sun Miao-Miao, Li Ke, Zheng Guang-Yi
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