Results 31 to 40 of about 3,450 (166)

Deletions of the COL4A5 gene in patients with Alport syndrome

Kidney International, 1992
Mutations in the COL4A5 gene encoding the alpha 5 chain of type IV collagen have been found in linkage with X-chromosomal Alport syndrome (AS). To identify COL4A5 mutations in patients from Germany with clinically defined AS, DNA from 20 unrelated patients was analyzed by conventional Southern blotting.
Netzer, Kai-Olaf, Renders, Lutz, Zhou, Jing, Pullig, Oliver, Tryggvason, Karl, Weber, Manfred   +5 more
openaire   +2 more sources

Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease [PDF]

Pediatric Nephrology, 2015
Mutations in podocyte and basement membrane genes are associated with a growing spectrum of glomerular disease affecting adults and children. Investigation of familial cases has helped to build understanding of both normal physiology and disease.We investigated a consanguineous family with a wide clinical phenotype of glomerular disease using clinical,
Lennon, Rachel, Stuart, Helen M, Bierzynska, Agnieszka, Randles, Michael J, Kerr, Bronwyn, Hillman, Katherine A, Batra, Gauri, Campbell, Joanna, Storey, Helen, Flinter, Frances A, Koziell, Ania, Welsh, Gavin I, Saleem, Moin A, Webb, Nicholas J A, Woolf, Adrian S   +14 more
openaire   +4 more sources

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

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

Molecular Genetics & Genomic Medicine, 2021
Background Alport syndrome (ATS) is a hereditary progressive hematuric nephropathy associated with sensorineural deafness and ocular abnormalities, which is caused by mutations in the COL4A5 gene (X‐linked ATS) and in two autosomal genes, COL4A4 and ...
Vera Uliana, Paola Sebastio, Matteo Riva, Diana Carli, Claudio Ruberto, Laura Bianchi, Claudio Graziano, Irene Capelli, Flavio Faletra, Roberto Pillon, Teresa Mattina, Alberto Sensi, Francesco Bonatti, Antonio Percesepe   +13 more
doaj   +1 more source

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough

iScience, 2022
Summary: Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes encoding collagen α3α4α5(IV) of basement membranes.
Kohei Omachi, Hirofumi Kai, Michel Roberge, Jeffrey H. Miner   +3 more
doaj   +1 more source

Prevalence of diagnostic Mendelian kidney disease variants in type 2 diabetes with and without diabetic kidney disease. [PDF]

J Diabetes Investig
We examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. A total of 2177 patients with type 2 diabetes were examined. The prevalences of diagnostic variant of Mendelian kidney disease were 8.6% (DKD +) vs 7.8%, and there ...
Hirakawa Y, Sugawara Y, Nangaku M.
europepmc   +2 more sources

Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome [PDF]

Human Mutation, 1998
No abstract available.
T. M. Neri, P. Zanelli, G. De Palma, M. Savi, S. Rossetti, TURCO, Alberto, PIGNATTI, Pierfranco, L. Galli, M. Bruttini, A. Renieri, R. Mingarelli, A. Trivelli, A. R. Pinciaroli, M. Ragaiolo, G. F. Rizzoni, M. De Marchi   +15 more
openaire   +5 more sources

Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts [PDF]

Kidney International, 2005
Alport syndrome is a progressive hereditary glomerulonephritis that is characterized by hematuria, sensorineural deafness, ocular lesions, and progressive renal failure. The majority of cases (about 85%) are caused by mutations in the COL4A5 gene on the X chromosome which encodes the type IV collagen alpha5 chain (X-linked Alport syndrome).In this ...
Wang, Fang, Wang, Yunfeng, Ding, Jie, Yang, Jiyun   +3 more
openaire   +2 more sources

X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5 [PDF]

Clinical Journal of the American Society of Nephrology, 2014
X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investigations have rarely been conducted to clarify the underlying mechanism.In total ...
Nozu, K., Vorechovsky, I., Kaito, H., Fu, X. J., Nakanishi, K., Hashimura, Y., Hashimoto, F., Kamei, K., Ito, S., Kaku, Y., Imasawa, T., Ushijima, K., Shimizu, J., Makita, Y., Konomoto, T., Yoshikawa, N., Iijima, K.   +16 more
openaire   +3 more sources

mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing

Scientific Reports, 2021
Mutations in COL4A3, COL4A4 and COL4A5 genes lead to Alport syndrome (AS). However, pathogenic variants in some AS patients are not detected by exome sequencing.
Xiaoyuan Wang, Yanqin Zhang, Jie Ding, Fang Wang   +3 more
doaj   +1 more source