Zobrazeno 1 - 10
of 2 434
pro vyhledávání: '"J Fielding"'
Autor:
Pooja Biswas, Adda L Villanueva, Angel Soto-Hermida, Jacque L Duncan, Hiroko Matsui, Shyamanga Borooah, Berzhan Kurmanov, Gabriele Richard, Shahid Y Khan, Kari Branham, Bonnie Huang, John Suk, Benjamin Bakall, Jeffrey L Goldberg, Luis Gabriel, Naheed W Khan, Pongali B Raghavendra, Jason Zhou, Sindhu Devalaraja, Andrew Huynh, Akhila Alapati, Qais Zawaydeh, Richard G Weleber, John R Heckenlively, J Fielding Hejtmancik, Sheikh Riazuddin, Paul A Sieving, S Amer Riazuddin, Kelly A Frazer, Radha Ayyagari
Publikováno v:
PLoS Genetics, Vol 17, Iss 10, p e1009848 (2021)
Patients with inherited retinal dystrophies (IRDs) were recruited from two understudied populations: Mexico and Pakistan as well as a third well-studied population of European Americans to define the genetic architecture of IRD by performing whole-ge
Externí odkaz:
https://doaj.org/article/100510e296874924a61b4222d50d1e2c
Autor:
Ciana Deveau, Xiaodong Jiao, Sachihiro C Suzuki, Asha Krishnakumar, Takeshi Yoshimatsu, J Fielding Hejtmancik, Ralph F Nelson
Publikováno v:
PLoS Genetics, Vol 16, Iss 6, p e1008869 (2020)
We investigate mutations in trβ2, a splice variant of thrb, identifying changes in function, structure, and behavior in larval and adult zebrafish retinas. Two N-terminus CRISPR mutants were identified. The first is a 6BP+1 insertion deletion frames
Externí odkaz:
https://doaj.org/article/ea0699d690a147cf877ed1b930a3c695
Autor:
Xiaodong Jiao, Shahid Y Khan, Haiba Kaul, Tariq Butt, Muhammad Asif Naeem, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 14, Iss 12, p e0225010 (2019)
PurposeTo investigate the genetic basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous Pakistani family.MethodsAll participating members of family, PKCC074 underwent an ophthalmic examination. Slit-lamp photographs were
Externí odkaz:
https://doaj.org/article/94816b39b6e244aabe4e691174a06824
Autor:
Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007504 (2018)
We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous f
Externí odkaz:
https://doaj.org/article/baf42b0095e24ebeabdac8b3ae0ecd02
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0189881 (2017)
Rare germ-line mutations in the coding regions of the human EPHA2 gene (EPHA2) have been associated with inherited forms of pediatric cataract, whereas, frequent, non-coding, single nucleotide variants (SNVs) have been associated with age-related cat
Externí odkaz:
https://doaj.org/article/864b0990507a48ca9ee003f9800b3287
Autor:
Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0171403 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0137973.].
Externí odkaz:
https://doaj.org/article/23fc09a8eda8473484d8d58428943b68
Autor:
Xiaodong Jiao, Firoz Kabir, Bushra Irum, Arif O Khan, Qiwei Wang, David Li, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 11, Iss 6, p e0157005 (2016)
This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cata
Externí odkaz:
https://doaj.org/article/3166a177de8b4970a43162421fedeb93
Autor:
Bin Wang, Jack R. Fitzpatrick, Adam Brookfield, Alistair J. Fielding, Emily Reynolds, Jake Entwistle, Jincheng Tong, Ben F. Spencer, Sara Baldock, Katherine Hunter, Christopher M. Kavanagh, Nuria Tapia-Ruiz
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Hard carbon is a promising negative electrode material for rechargeable sodium-ion batteries due to the ready availability of their precursors and high reversible charge storage. The reaction mechanisms that drive the sodiation properties in
Externí odkaz:
https://doaj.org/article/e0a81f8c0bb448548c83477c9b654b18
Autor:
Xiaodong Jiao, Shahid Y Khan, Bushra Irum, Arif O Khan, Qiwei Wang, Firoz Kabir, Asma A Khan, Tayyab Husnain, Javed Akram, Sheikh Riazuddin, J Fielding Hejtmancik, S Amer Riazuddin
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0137973 (2015)
This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photogr
Externí odkaz:
https://doaj.org/article/429721841630440682ff75a7929d6997
Autor:
Bruno Maranhao, Pooja Biswas, Alexander D H Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S Amer Riazuddin, J Fielding Hejtmancik, Radha Ayyagari
Publikováno v:
PLoS ONE, Vol 10, Iss 9, p e0136561 (2015)
PURPOSE:To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. METHODS:A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed
Externí odkaz:
https://doaj.org/article/32c830b59a2c4bc2a01910bbdebdfdd8