Results 21 to 30 of about 3,403 (162)

DataSheet1_Identification of COL4A4 variants in Chinese patients with familial hematuria.pdf

, 2023
Background: Benign familial hematuria and Alport syndrome are common causes of familial hematuria among children and young adults, which are attributable to variants in the collagen type IV alpha chain genes, COL4A3, COL4A4, or COL4A5.
Yan Yang (33204), Lamei Yuan (748098), Yanan Gao (360685), Jinzhong Yuan (14348889), Yong Chen (109188), Jiangang Wang (348255), Yinze Ai (14348892), Hao Deng (409186), Hao Zhang (15339)   +8 more
core   +1 more source

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

Molecular Genetics & Genomic Medicine, 2020
Background Focal segmental glomerulosclerosis (FSGS), as the frequent primary glomerular diseases in adults, accounts for symptomless proteinuria or nephrotic syndrome with or without renal insufficiency.
Liang‐Liang Fan, Lv Liu, Fang‐Mei Luo, Ran Du, Chen‐Yu Wang, Yi Dong, Ji‐Shi Liu   +6 more
doaj   +1 more source

The same heterozygous Col4A4 mutation triggered different renal pathological changes in Chinese family members

Frontiers in Genetics, 2023
Background: Mutations in the collagen components of the glomerular basement membrane (GBM) often lead to hereditary glomerulonephritis. Previous studies have identified that autosomal dominant mutations of Col4A3, Col4A4 or Col4A5 are associated with ...
Fengming Zhu, Yueqiang Li, Yuxi Wang, Ying Yao, Ying Yao, Rui Zeng, Rui Zeng   +6 more
doaj   +1 more source

Mutations in the COL4A4 gene in thin basement membrane disease [PDF]

, 2003
Mutations in the COL4A4 gene in thin basement membrane disease.BackgroundPatients with thin basement membrane disease (TBMD) are often from families where hematuria segregates with the COL4A3 and COL4A4 genes.
Wilson, Diane, Cotton, Richard G., Buzza, Mark, Wang, YanYan, Savige, Judy, Dagher, Hayat, Babon, Jeffrey J.   +6 more
core   +1 more source

COL4A4 variant recently identified: lessons learned in variant interpretation—a case report

BMC Nephrology, 2022
Background Alport syndrome is a hereditary kidney disease characterized by hematuria and proteinuria. Although there have been reports of autosomal dominant COL4A4 variants, this is likely an underdiagnosed condition.
Jenelle Cocorpus, Megan M Hager, Corinne Benchimol, Vanesa Bijol, Fadi Salem, Sumit Punj, Laura Castellanos, Pamela Singer, Christine B Sethna, Abby Basalely   +9 more
doaj   +1 more source

A Nonsense Mutation in COL4A4 Gene Causing Isolated Hematuria in Either Heterozygous or Homozygous State

Frontiers in Genetics, 2019
Alport syndrome (AS) is a hereditary nephropathy characterized by glomerular basement membrane lesions. AS shows a relatively rare entity with autosomal dominant gene mutation (accounts for less than 5% of AS cases) and is widely believed to be a ...
Cheng Yang, Yuan Song, Zhaowei Chen, Xiaohan Yuan, Xinhua Chen, Guohua Ding, Yang Guan, Mary McGrath, Chunhua Song, Yongqing Tong, Huiming Wang   +10 more
doaj   +1 more source

Phenotyping of a novel COL4A4 and novel GLA variant in a patient presenting with microhematuria and mildly impaired kidney function: a case report

Frontiers in Genetics, 2023
We describe the case of a 44-year-old male patient with a longstanding history of microhematuria and mildly impaired kidney function (CKD G2A1). The family history disclosed three females who also had microhematuria.
Markus Ponleitner, Daniela Maria Allmer, Manfred Hecking, Constantin Gatterer, Senta Graf, Mateja Smogavec, Franco Laccone, Paulus Stefan Rommer, Gere Sunder-Plassmann   +8 more
doaj   +1 more source

Analysis of the association of ANO3/MUC15, COL4A4, RRBP1, and KLK1 polymorphisms with COPD susceptibility in the Kashi population

BMC Pulmonary Medicine, 2022
Objective Chronic obstructive pulmonary disease (COPD) is a complex, multifactorial, polygenic disease. The rate of occurrence of COPD in the Kashi population (Uyghur) is significantly higher than that observed nationwide.
Lifeng Tang, Xuemei Zhong, Hui Gong, Maimaitiaili Tuerxun, Tao Ma, Jie Ren, Chengxin Xie, Aifang Zheng, Zulipikaer Abudureheman, Ayiguzali Abudukadeer, Paierda Aini, Subinuer Yilamujiang, Li Li   +12 more
doaj   +1 more source

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome11See Editorial by Monnens, p. 799 [PDF]

, 2001
COL4A4mutation in thin basement membrane disease previously described in Alport syndrome.BackgroundCarriers of autosomal-recessive and X-linked Alport syndrome often have a thinned glomerular basement membrane (GBM) and have mutations in the COL4A3 ...
Cotton, Richard G., Buzza, Mark, Powell, Harley, Savige, Judy, Wang, Yan Yan, Dagher, Hayat, Babon, Jeffrey J., Dowling, John   +7 more
core   +1 more source

Novel variants in COL4A4 and COL4A5 are rare causes of FSGS in two unrelated families [PDF]

, 2018
We report two female patients with focal segmental glomerulosclerosis and chronic kidney disease. The first patient was found to have a heterozygous, de novo, pathogenic variant in COL4A5 (c.141+1G>A, IVS2+1G>A), which is associated with Alport ...
Ghandour, Mohamedanwar, Atwal, Paldeep S., Mohammad, Ahmed N., Aslam, Nabeel, Agarwal, Anjali, Hines, Stephanie L.   +5 more
core   +1 more source