Results 71 to 80 of about 4,891 (195)

Data_Sheet_1_Identification of 27 Novel Variants in Genes COL4A3, COL4A4, and COL4A5 in Lithuanian Families With Alport Syndrome.pdf

, 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), Peter Bauer (524851), Vija Vainutiene (12300311), Agne Cerkauskaite (12300296), Birute Burnyte (3415877), Judy Savige (4245745), Arndt Rolfs (140849), Rasa Strupaite-Sileikiene (12300308), Arvydas Laurinavicius (3439214), Rimante Cerkauskiene (6540812), Sabine Schröder (12099989), Karolina Janonyte (12300299), Edita Kazenaite (12300305), Ieva Jeremiciute (12300302), Marius Miglinas (6473267)   +14 more
core   +1 more source

Genetic reprogramming with stem cells regenerates glomerular epithelial podocytes in Alport syndrome

Life Science Alliance
Podocytes are the rate-limiting glomerular cells for type IV collagen production, and horizontal gene transfer or cell fusion with stem cells regenerates the renal parenchyma in Alport syndrome. Glomerular filtration relies on the type IV collagen (ColIV)
Valerie S LeBleu, Keizo Kanasaki, Sara Lovisa, Joseph L Alge, Jiha Kim, Yang Chen, Yingqi Teng, Behzad Gerami-Naini, Hikaru Sugimoto, Noritoshi Kato, Ignacio Revuelta, Nicole Grau, Jonathan P Sleeman, Gangadhar Taduri, Akane Kizu, Shahin Rafii, Konrad Hochedlinger, Susan E Quaggin, Raghu Kalluri   +18 more
doaj   +1 more source

Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria. [PDF]

PLoS ONE, 2013
We applied customized targeted next-generation exome sequencing (NGS) to determine if mutations in genes associated with renal malformations, Alport syndrome (AS) or nephrotic syndrome are a potential cause of renal abnormalities in patients with ...
Rajshekhar Chatterjee, Mary Hoffman, Paul Cliften, Surya Seshan, Helen Liapis, Sanjay Jain   +5 more
doaj   +1 more source

Assessing D‐Squame as a Minimally Invasive Technique to Evaluate the Cutaneous Immune Response mRNA in a Dog Model of Canine Atopic Dermatitis

Veterinary Dermatology, Volume 37, Issue 3, Page 353-364, June 2026.
ABSTRACT Background Canine atopic dermatitis (cAD) is a multifactorial, inherited skin disease, estimated to affect ≤ 15% of dogs. Studies of skin messenger mRNA in cAD currently use invasive methods, including blood sampling and biopsy collection, whilst advances in human atopic dermatitis study methodology have demonstrated reliable use of minimally ...
Xavier Langon, Marion Mosca, Nadège Milhau, Mélanie Legain, Adrien Idée, Didier Pin   +5 more
wiley   +1 more source

Changes in kidney function, proteom and phoshorylation status of proteins in Alport COL4A3-deficient mice caused by mycophenolat mofetil

, 2016
Objectives: We aimed to investigate the effects of mycophenolate mofetil (MMF) on kidney function, the proteom and protein phosphorylation in a mouse model for the human Alport syndrome.
Luchs, Klaus
core   +1 more source

COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome

, 2020
Background Alport syndrome (AS) is an inherited glomerular disease caused by mutations in COL4A3, COL4A4, or COL4A5. Associations between clinical manifestations and genotype are not yet well defined.
ALPAY, HARİKA
core   +3 more sources

Tolerability and Feasibility of Minimally Invasive Canine Skin Sampling: Excellent Tolerability Meets Transcriptomic Challenges

Veterinary Dermatology, Volume 37, Issue 3, Page 375-385, June 2026.
ABSTRACT Background Advances in transcriptomics have driven the demand for minimally invasive, reproducible and high‐yield skin sampling methods, particularly for studying inflammatory skin diseases in companion animals. Hypothesis/Objectives We tested tolerability, feasibility and RNA quantity and quality of three minimally invasive skin sampling ...
Ina Herrmann, Lisa B. Mamo, Allison N. Dickey   +2 more
wiley   +1 more source

MyGene2 automated match report: COL4A3

, 2017
MyGene2.org is free, public, searchable & browsable website. Families with rare genetic conditions, clinicians, and researchers families who are interested in sharing health and genetic information can create MyGene2 profiles and use these to connect with other families, clinicians, and researchers who may have or be studying the same condition. If
openaire   +1 more source

COL12A1 rs970547 Polymorphism Predisposes Anterior Cruciate Ligament Injury by Inducing ER Stress and Impairing Fibroblast Function

Advanced Biology, Volume 10, Issue 5, May 2026.
The COL12A1 rs970547(A/A) polymorphism is over‐represented in Chinese male anterior cruciate ligament (ACL) injury patients. This variant destabilizes COL12A1 protein without altering transcript levels, driving compensatory upregulation of other collagen genes and inducing endoplasmic reticulum stress in ACL‐derived fibroblasts.
Wenchuan Zhao, Hong Chen, Junwei Wang, Yixin Li, Rui Chen, Jingyi Zhou   +5 more
wiley   +1 more source

Collagen COL4A3 knockout: a mouse model for autosomal Alport syndrome. [PDF]

Genes & Development, 1996
A mouse model for the autosomal form of Alport syndrome was produced. These mice develop a progressive glomerulonephritis with microhematuria and proteinuria, consistent with the human disease. End-stage renal disease develops at approximately 14 weeks of age. TEM analysis of the glomerular basement membranes (GBM) during development of renal pathology
D, Cosgrove, D T, Meehan, J A, Grunkemeyer, J M, Kornak, R, Sayers, W J, Hunter, G C, Samuelson   +6 more
openaire   +2 more sources