Results 41 to 50 of about 3,403 (162)
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
, 2022 Introduction:Alport syndrome (AS) is an inherited disorder characterized by hematuria, proteinuria, and kidney function impairment, and frequently associated with extrarenal manifestations.
Augustina Jankauskiene (9307835) +14 more
core +1 more source
Stem Cell Research, 2021 Alport syndrome (AS) is a hereditary kidney disease caused by mutations in COL4A3, COL4A4, or COL4A5 genes. Here we report the generation of an induced pluripotent stem cell line (iPSC) from an AS patient carrying compound heterozygote mutations (c.4243G
Yanyan Ma +6 more
doaj +1 more source
The Journal of Physiology, EarlyView.Abstract figure legend LIGHT is a mutual mediator of intestinal and oesophageal fibroblast inflammation with common as well as tissue‐specific effects. Hydroxylase inhibitors can selectively suppress inflammatory factors in both cell types, albeit targeting different signalling pathways.
Cian M. Ohlendieck +13 more
wiley +1 more source
Common Founder mutations in the COL4A5, COL4A3 and COL4A4 genes.
, 2016 Common Founder mutations in the COL4A5, COL4A3 and COL4A4 genes.
Hee Gyung Kang (3120111) +16 more
core +1 more source
Journal of Cosmetic Dermatology, Volume 25, Issue 10, October 2026.ABSTRACT Background Skin aging, a key aspect of physiological decline, markedly affects appearance, making strategies to delay it vital for quality of life. Materials and Methods We applied network medicine analysis to screen herbal medicines from the TCMSP database, yielding an anti‐skin aging formula, ZiYuShuang (ZYS).
Yingpeng Tong +6 more
wiley +1 more source
Stem Cell Research, 2021 Alport syndrome is the second most common genetic renal disease which caused by mutations in COL4A3/COL4A4/COL4A5, according to different modes of inheritance.
Hangdi Wu +6 more
doaj +1 more source
Advanced Science, Volume 13, Issue 50, 7 September 2026.A three‐tier livestock multi‐omics framework resolves four typical analytical pitfalls. Moving from statistical association through machine learning preprocessing to triple‐modal causal inference, it converts omics results into genomic selection and gene editing strategies to achieve One Health, underpinned by multi‐omics data, multimodal sequencing ...
Jiying Wen +5 more
wiley +1 more source
Liver International, Volume 46, Issue 9, September 2026.ABSTRACT Background and Aims Metabolic dysfunction‐associated steatotic liver disease (MASLD) is a progressive liver disease that ranges from simple steatosis to inflammation, fibrosis and cirrhosis. To address the unmet need for new MASLD biomarkers, we aimed to identify candidate biomarkers using publicly available RNA sequencing (RNA‐seq) and ...
Wenfeng Ma +17 more
wiley +1 more source
Aging Cell, Volume 25, Issue 8, August 2026.Hydrogel culture mimicking young and aged ovarian stromal stiffness recapitulates key features of reproductive aging, including impaired follicle growth, transzonal projections (TZPs), and oocyte quality. Silencing Smad7 rescues TZPs and oocyte quality in stiff hydrogels, identifying ECM mechanics as a driver and therapeutic target in ovarian aging ...
Xingyu Shen +10 more
wiley +1 more source