Results 51 to 60 of about 2,525,206 (182)
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
Prediabetic cardiomyopathy is attenuated by hypothalamic PVN oxytocin neuron activation
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
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
Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families
IntroductionAlport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in COL4A3, COL4A4, and/or COL4A5 genes. Interpretation of non-canonical splicing variants can be challenging.
Chee Teck Koh +24 more
doaj +1 more source
Ocular findings in 34 patients with Alport syndrome, correlation of the findings to mutations in COL4A5 gene [PDF]
To describe the incidence and type of ocular findings of 34 patients with Alport syndrome and to analyze the association of gene defect in COL4A5 gene to ocular abnormalities found.A nationwide search of Alport syndrome patients was performed in Finland, and patients were invited to take part in a thorough ophthalmologic investigation.A total of 34 ...
H, Pajari +5 more
openaire +2 more sources
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
Genotype‐phenotype correlation and prognostic impact in Chinese patients with Alport Syndrome
Background Alport Syndrome (AS) is a progressive hereditary glomerular disease. It is often accompanied by sensorineural hearing loss and ocular abnormalities and can sometimes develop into end stage renal disease (ESRD), which is caused by mutations in ...
Shunlai Shang +6 more
doaj +1 more source
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis. [PDF]
Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. Despite simultaneous screening of these genes being widely available, mutation detection still remains incomplete in a non-marginal ...
Chiara Chiereghin +8 more
doaj +1 more source
A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome [PDF]
A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome. The X-linked form of Alport syndrome is associated with mutations in the COL4A5 gene encoding the α5-chain of type IV collagen. By using PCR-amplification
Niina Heiskari +9 more
core +1 more source
Knowledge Mapping of Alport Syndrome: A Bibliometric Analysis From 2000 to 2025
This bibliometric analysis outlines global research trends, collaborations, and hotspots of Alport syndrome, offering references for future basic research and clinical management. ABSTRACT Background Alport syndrome (AS) is a multisystem hereditary disorder characterized by persistent hematuria, progressive renal insufficiency, sensorineural hearing ...
Xiujuan Cao +4 more
wiley +1 more source

