Results 81 to 90 of about 3,450 (166)

#2438 ADPKD and collagen genes (COL4A3, COL4A4, COL4A5)

Nephrology Dialysis Transplantation
Abstract Background and Aims Familial hematuria diseases are a heterogeneous group of monogenic conditions caused by mutations in one of the collagen IV genes: COL4A3 (2q36.3), COL4A4 (2q36.3), and COL4A5 (Xq22.3) that are expressed in the glomerular basement membranes (GBM) and are responsible for ...
Carlotta Caprara, Valentina Corradi, Matteo Rigato, Barbara Mancini, Nenzi Marzano, Omar Perbellini, Fiorella Gastaldon, Claudio Ronco, Monica Zanella   +8 more
openaire   +1 more source

COL4A5 Intronic Variants at Third to Fifth Nucleotides Cause Alport Syndrome

Kidney International Reports
Introduction: Alport syndrome (AS) is an inherited kidney disease caused by variants in the COL4A3, COL4A4, or COL4A5 genes, resulting in type IV collagen abnormalities.
Hideaki Kitakado, Tomoko Horinouchi, Shuhei Aoyama, Yuka Kimura, Yuta Inoki, Yu Tanaka, Chika Ueda, Yuya Aoto, Nana Sakakibara, China Nagano, Tomohiko Yamamura, Shingo Ishimori, Rini Rossanti, Masafumi Matsuo, Kandai Nozu   +14 more
doaj   +1 more source

Structure of the human type IV collagen COL4A5 gene.

Journal of Biological Chemistry, 1994
The complete exon size and distribution pattern of the human alpha 5(IV) collagen gene COL4A5 has been determined. Seventeen genomic lambda phage clones, eight of which have been described previously (Zhou, J., Hostikka, S.L., Chow, L.T., and Tryggvason, K. (1991) Genomics 9, 1-9), spanning about 160 kilobases of DNA contained 140 kilobases of the gene
J, Zhou, A, Leinonen, K, Tryggvason
openaire   +2 more sources

The Chemical Chaperone, PBA, Reduces ER Stress and Autophagy and Increases Collagen IV α5 Expression in Cultured Fibroblasts From Men With X-Linked Alport Syndrome and Missense Mutations

Kidney International Reports, 2017
X-linked Alport syndrome (OMIM 301050) is caused by COL4A5 missense variants in 40% of families. This study examined the effects of chemical chaperone treatment (sodium 4-phenylbutyrate) on fibroblast cell lines derived from men with missense mutations ...
Dongmao Wang, Mardhiah Mohammad, Yanyan Wang, Rachel Tan, Lydia S. Murray, Sharon Ricardo, Hayat Dagher, Tom van Agtmael, Judy Savige   +8 more
doaj   +1 more source

Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay

Molecular Genetics & Genomic Medicine
Background X‐linked Alport syndrome (XLAS) is an inherited renal disease caused by rare variants of COL4A5 on chromosome Xq22. Many studies have indicated that single nucleotide variants (SNVs) in exons can disrupt normal splicing process of the pre‐mRNA
Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao   +8 more
doaj   +1 more source

Trigenic COL4A3/COL4A4/COL4A5 Pathogenic Variants in Alport Syndrome: A Case Report

Nephron
Alport syndrome (AS) is a hereditary kidney disorder of type IV collagen caused by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Previously several cases of digenic AS, caused by two pathogenic variants in two of the three COL4A genes, have been reported.
Dipti Rao, Rutger Maas, Marlies Cornelissen, Jack Wetzels, Michel van Geel   +4 more
openaire   +2 more sources

Establishment of an induced pluripotent stem cell line from a patient with X-linked Alport syndrome carrying a hemizygous splicing variant (NM_033380; c.929[exon 16]delG) in the collagen type IV alpha 5 chain gene

Stem Cell Research
X-linked hereditary Alport syndrome (XLAS) type 1 (OMIM: 301050) results from a pathogenic variant in the collagen type IV alpha 5 chain (COL4A5) gene.A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells
Denglu Zhang, KaiLin Li, XianZhen Yang, Haitao Wang, Xin Yu   +4 more
doaj   +1 more source

Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome

Frontiers in Genetics
BackgroundAlport syndrome (AS) is a common cause of end-stage renal disease (ESRD) with various clinical symptoms and incomplete manifestation. Patients with AS and other renal disorders are often misdiagnosed. This study reported three X-linked dominant
Jian-Hui Zhang, Jian-Hui Zhang, Jie Liu, Jie Liu, Dan-Dan Ruan, Dan-Dan Ruan, Qian Chen, Qian Chen, Jie Yang, Jie Yang, Min Wu, Min Wu, Hong-Ping Yu, Hong-Ping Yu, Li-Sheng Liao, Li-Sheng Liao, Xiao-Ling Zheng, Xiao-Ling Zheng, Jie-Wei Luo, Li Zhang, Li Zhang   +20 more
doaj   +1 more source

A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report

SAGE Open Medical Case Reports
In this case report, we report our findings of a variant of uncertain significance in the COL4A5 gene in four family members. Patient 0 is a 16-year-old female with no prior medical history referred to Pediatric Nephrology for the evaluation of ...
Teresa Trinka, Mohammed Faizan
doaj   +1 more source

Familial co-occurrence of diffuse leiomyomatosis and Alport syndrome: a clinical case report

Сеченовский вестник
Alport syndrome (AS) is a hereditary nephropathy caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. Rare contiguous COL4A5–COL4A6 alterations cause AS with diffuse leiomyomatosis (AS-DL).Case report.
М. Boltaboeva, A. Haydarov, M. Ganieva, D. Kholmatov, O. Efimenko, L. Rakhmanova   +5 more
doaj   +1 more source