Results 41 to 50 of about 3,450 (166)
Kidney International, 1993 PCR conditions were optimized to amplify the COL4A5 cDNA from lymphoblasts and kidney tissue. Sequencing of the COL4A5 mRNA isolated from the kidney of an Alport syndrome patient revealed two differences with the published sequence. One divergence, the insertion of an 18 bp sequence between exon 11 and 10 of the COL4A5 mRNA added two Gly-X-Y triplets ...
Guo, Caiying +5 more
openaire +2 more sources
Journal of Anatomy, Volume 246, Issue 4, Page 585-601, April 2025.The extracellular matrix plays a critical role in modulating cell behaviour in the central nervous system influencing neural cell morphology and growth. However, a better understanding of the impact of individual matrix proteins on both neurons and astrocytes is critical for advancing the development of matrix‐based neural repair strategies.
Cian O'Connor +9 more
wiley +1 more source
A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
Human Genome Variation, 2022 Alport syndrome is a hereditary disorder characterized by renal impairment, hearing loss, and ocular symptoms and is caused by COL4A3, COL4A4, and COL4A5 mutations.
Naonori Kumagai +3 more
doaj +1 more source
Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome [PDF]
Nephrology Dialysis Transplantation, 2004 Mutations in the COL4A5 gene, encoding the alpha 5 chain of type IV collagen, are responsible for X-linked Alport's syndrome (XLAS), a progressive nephropathy characterized by glomerular basement membrane abnormalities and usually associated with progressive hearing loss and ocular lesions.In this study, we analysed all 51 exons of the COL4A5 gene in ...
Xiaoxia, Pan +9 more
openaire +3 more sources
Prediabetic cardiomyopathy is attenuated by hypothalamic PVN oxytocin neuron activation
The Journal of Physiology, EarlyView.Abstract figure legend A long‐term high‐fat, high‐fructose diet induces prediabetes with insulin resistance, hyperinsulinaemia, elevated triglycerides and metabolic‐associated steatotic liver disease (MASLD) in male rats. Animals developed prediabetic cardiomyopathy characterized by diastolic dysfunction, interstitial fibrosis and tachycardia ...
Anna Nilsson +7 more
wiley +1 more source
Andrology, Volume 14, Issue 6, Page 1535-1551, September 2026.ABSTRACT Background Oligoasthenozoospermia is a leading cause of male infertility and has been increasingly associated with the global surge in obesity and exposure to reproductive toxicants. Despite extensive research on each factor individually, their combined pathological effects remain poorly understood.
Yunlong Yao +12 more
wiley +1 more source
A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene
Frontiers in Medicine, 2023 Alport syndrome (AS) is an inherited glomerular basement membrane (GBM) disease leading to end-stage renal disease (ESRD). X-linked AS (XLAS) is caused by pathogenic variants in the COL4A5 gene. Many pathogenic variants causing AS have been detected, but
Wei-qing Wu +9 more
doaj +1 more source
Advanced Healthcare Materials, Volume 15, Issue 27, 17 July 2026.We measure the cell‐specific responses of administering infusible ECM (iECM) in acute myocardial infarction (MI) across multiple timepoints. Using single‐nucleus RNA sequencing and spatial transcriptomics, we measure macrophage activation, fibroblast remodeling, increased vascular development, lymphangiogenesis, cardioprotection, and neurogenesis ...
Joshua M. Mesfin +18 more
wiley +1 more source
ACOL4A5mutation with glomerular disease and signs of chronic thrombotic microangiopathy [PDF]
Clinical Kidney Journal, 2015 COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt haematuria or hearing loss.
Wuttke, Matthias +6 more
openaire +3 more sources
Advanced Science, Volume 13, Issue 37, 3 July 2026.This study reveals a citrate–ACLY–H3K27ac metabolic–epigenetic axis driving inflammatory gene activation and kidney fibrosis, highlighting ACLY inhibition as a potential therapeutic strategy for chronic kidney disease (CKD). ABSTRACT The mechanisms by which metabolic stress drives epigenetic dysregulation and fibrosis in chronic kidney disease (CKD ...
Chunxiu Du +15 more
wiley +1 more source