Results 21 to 30 of about 2,525,206 (182)

Identification and pathogenicity analysis of a novel intronic COL4A5 variant in a Chinese family [PDF]

Frontiers in Medicine
BackgroundX-linked Alport syndrome (XLAS) is a disorder of type IV collagen structure caused by pathogenic variants of the COL4A5 gene and characterized by progressive kidney disease, hearing loss, and ocular abnormalities. Although mutation screening is
Pei Qian, Hui-mei Huang, Lei Suo, Zhijuan Li, Min Zhang, Ying Bao   +5 more
doaj   +2 more sources

Determining Genetic Cause of Posterior Staphylomas in Eyes with Pathologic Myopia by Whole Exome Sequencing [PDF]

Ophthalmology Science
Purpose: To identify genetic variants in posterior staphylomas in eyes with pathologic myopia using whole exome sequencing and to determine possible molecular mechanisms contributing to the pathogenesis.
Ziye Wang, MD, Changyu Chen, MD, PhD, Yijin Wu, MD, Yuki Nagata, PhD, Toshihiro Tanaka, MD, PhD, Shiqi Xie, MD, PhD, Hongshuang Lu, MD, PhD, Yining Wang, MD, Jianping Xiong, MD, PhD, Liwen Zhang, MD, Koju Kamoi, MD, PhD, Kyoko Ohno-Matsui, MD, PhD   +11 more
doaj   +2 more sources

Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family [PDF]

Current Issues in Molecular Biology
Background: Alport syndrome is a hereditary disorder caused by defects in the type IV collagen network. Although exon variants are primarily associated with Alport syndrome, the clinical significance of intronic variants remains incompletely ...
Diana Basharova, Ayazhan Bekbayeva, Gulnara Svyatova, Aizhan Darmeshova, Elena Zholdybayeva   +4 more
doaj   +2 more sources

Two CA-dinucleotide polymorphisms at the COL4A5 (Alport syndrome) gene in Xq22. [PDF]

Nucleic Acids Research, 1992
James R. Cleverly, Pamela R Fain
exaly   +3 more sources

Novel Variant in COL4A5 Gene Associated with X-linked Alport Syndrome [PDF]

Journal of Genetics and Genome Research, 2020
Wijewickrama Eranga Sanjeewa, Hettiarachchi Dineshani, Loh Hwai Liang, Choong Lye Wai, Dissanayake Vajira HW   +4 more
exaly   +2 more sources

Generation of a COL4A5 heterozygous mutation human embryonic stem cell line (WAe009-A-58) using an episomal vector-based CRISPR/Cas9 system

Stem Cell Research, 2021
X-linked Alport syndrome (XLAS) is the second most common inherited kidney disease which pathogenic variants related to a mutation in the COL4A5 gene encoding the type IV collagen α5 chain.
Lei Tian, Fujian Wu, Rui Bai, Shuhong Ma, Huijuan Zheng, Wei jing Liu, Yaoxian Wang   +6 more
doaj   +1 more source

Generation of an iPSC line (GWCMCi002-A) from an X-linked Alport syndrome patient with a hemizygous splicing mutation (NM_000495.4, c. 1517-1 G > T) in the COL4A5 gene

Stem Cell Research, 2021
Pathogenic mutations in the COL4A5 gene are the main causes of X-Linked Alport Syndrome (XLAS). Here, to better understand the pathogenic mechanism of XLAS, we generated an iPSC line (GWCMCi002-A) from the peripheral blood mononuclear cells (PBMCs) of an
Xia Gao, Guanyu Li, Hui Deng, Weidong Feng, Yue Li, Ming Liu, Yingjie Li   +6 more
doaj   +1 more source

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]

PLoS ONE, 2015
Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov   +5 more
doaj   +1 more source

Mutation of NPHS1, NPHS2, WT1, LAMB2, COL4A5 and other genes in children with idiopathic steroid resistant nephrotic syndrome

Bangabandhu Sheikh Mujib Medical University Journal, 2023
Background: Many children with idiopathic steroid resistant nephrotic syndrome have been reported worldwide due to mutation of NPHS1, NPHS2, WT1 and LAMB2 genes. This study aimed to determine the frequency of mutation of NPHS1, NPHS2, WT1, LAMB2, COL4A5
Mst. Shanjida Sharmim, Golam Muin Uddin, Afroza Begum, Habibur Rahman, Ranjit Ranjan Roy, Tahmina Shirin, Mohammad Rashidul Alam, AKM Muraduzzaman, Syed Saimul Huque, Tahmina Jesmin, Abdullah Al Mamun   +10 more
doaj   +5 more sources

Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome

Stem Cell Research, 2021
Mutations in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome (XLAS). In this study, we generated two human induced pluripotent stem cell (iPSC) lines from two male patients carrying mutation c.796C > T (p.R266X) in COL4A5 gene.
Yanyan Ma, Zhendong Wang, Min Gao, Xiaolin Liu, Wenjie Sun, Yaoqin Gong, Gongping Sun, Guangyi Liu   +7 more
doaj   +1 more source