Results 121 to 130 of about 4,380 (145)

Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management. [PDF]

Genes (Basel)
Dotis J, Printza N.
europepmc   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics. [PDF]

Macromol Biosci
Lee JH, Han J, Park S, Mok H.
europepmc   +1 more source

Mouse Alport podocytes are susceptible to AAV9 transduction in vivo. [PDF]

Kidney Int
Lin MH, Omachi K, Begin JF, Richardson JL, Miner JH.   +4 more
europepmc   +1 more source

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome. [PDF]

JCI Insight
Saei H, Estebe B, Goudin N, Esmailpour M, Haure J, Gribouval O, Arrondel C, Moriniere V, Tian P, Lennon R, Antignac C, Mollet G, Dorval G.   +12 more
europepmc   +1 more source

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations. [PDF]

Int J Mol Sci
Butnariu LI, Russu R, Babici RG, Băgiag A, Trandafir LM, Țarcă E, Popovici P, Gimiga N, Starcea IM.   +8 more
europepmc   +1 more source

Tractional Retinoschisis: A Subtle and Rare Manifestation of X-Linked Alport Syndrome - A Case Report. [PDF]

Case Rep Ophthalmol
Valente Fortunato D, Vasco Garrido J, Mendes J.   +2 more
europepmc   +1 more source

Temporal Transcriptomics Leads From Discovery to in Vivo Validation: COL4A3/COL4A6/ COL4A5 and ITGA8 as Novel Arthrofibrosis Biomarkers in Post-traumatic Joint Contracture. [PDF]

Dose Response
Wang Y, Zeng H, Li Z, Cheng L, Zhu X, Liang M, Fang Z, Lai S, Cai B.   +8 more
europepmc   +1 more source

Thin Glomerular Basement Membrane Phenotypes With No Identified Pathogenic <i>COL4A3/A4/A5</i> Variant. [PDF]

Kidney Int Rep
Riella CV, Colombo DA, Rennke HG, Weins A, Rosen S, Lin MH, Suhas T, Stillman IE, Heher YK, Bianchi G, Zivna M, Bleyer AJ, Kmoch S, Lu W, Miner JH, Czarnecki PG.   +15 more
europepmc   +1 more source

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome

Clinical Genetics, 2008
Udgivelsesdato: 2008-Jun-26The X-linked form of Alport syndrome (AS) is caused by mutations in the COL4A5 gene encoding the alpha5 chain of type IV collagen.
Jens M Hertz, N Marcussen
exaly   +2 more sources

Detection of mutations in COL4A5 in patients with Alport Syndrome

Human Mutation, 1999
Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP ...
David Vetrie, P M Green
exaly   +2 more sources