Results 61 to 70 of about 23,214 (166)
X-Linked Alport Syndrome Caused by Splicing Mutations in COL4A5 [PDF]
Clinical Journal of the American Society of Nephrology, 2014 X-linked Alport syndrome is caused by mutations in the COL4A5 gene. Although many COL4A5 mutations have been detected, the mutation detection rate has been unsatisfactory. Some men with X-linked Alport syndrome show a relatively mild phenotype, but molecular basis investigations have rarely been conducted to clarify the underlying mechanism.In total ...
Nozu, K. +16 more
openaire +3 more sources
Temporal Bone Histopathology of X‐linked Inherited Alport Syndrome [PDF]
Laryngoscope Investigative Otolaryngology, 2018 ObjectiveTo describe the histopathologic findings within the human cochlea in X‐linked Alport syndrome.Study DesignHistopathologic analysis of cellular elements within the human cochlea by light microscopy.Materials and MethodsA right and a left cochleae of a man with genetically confirmed X‐linked Alport syndrome was studied post‐mortem.
Omer J. Ungar +2 more
openaire +2 more sources
Medicina, 2017 The most frequent cause of familial glomerular hematuria is thin basement membrane nephropathy (TBMN) caused by germline COL4A3 or COL4A4 gene mutations.
Pavlína Plevová, Josef Gut, Jan Janda
doaj +1 more source
Angewandte Chemie, EarlyView.The oxidation of Lys residues in proline‐rich single‐stranded collagen by LOXL2, a key enzyme for tissue maturation and linked to diseases, was revealed. Oxidation occurs at rates comparable to or higher than those of Lys in unstructured telopeptides, the well‐known native sites of Lysyl oxidase (LOX) activity.
Laura M. Poller +2 more
wiley +2 more sources
Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome [PDF]
Human Mutation, 1998 No abstract available.
T. M. Neri +15 more
openaire +6 more sources
Alport Syndrome Classification and Management
Kidney Medicine, 2020 Alport syndrome affects up to 60,000 people in the United States. The proposed reclassification of thin basement membrane nephropathy and some cases of focal segmental glomerulosclerosis as Alport syndrome could substantially increase the affected ...
Bradley A. Warady +7 more
doaj +1 more source
Novel mutations in patients with X-linked Alport syndrome: Two case reports. [PDF]
Medicine (Baltimore), 2019 Abstract Rationale: A genotype-phenotype correlation is known to be associated with Alport syndrome (AS). Identifying novel mutations can expand the knowledge about the natural course of AS. Patient concerns: The first patient was a-15-year-old boy detected with ...
Oh S +7 more
europepmc +3 more sources
Generation of two induced pluripotent stem cell lines from patients with X-linked Alport syndrome
Stem Cell Research, 2021 Mutations in COL4A5 on chromosome Xq22 cause X-linked Alport syndrome (XLAS). In this study, we generated two human induced pluripotent stem cell (iPSC) lines from two male patients carrying mutation c.796C > T (p.R266X) in COL4A5 gene.
Yanyan Ma +7 more
doaj +1 more source
Nephrotic Syndrome in a Child with Alport Syndrome: A Case Report and Literature Review
Journal of Gandhara Medical and Dental Sciences: Alport syndrome is a disorder affecting basement membranes in the glomeruli, cochlea, and eyes due to mutations in collagen IV genes (COL4A3, COL4A4, COL4A5).
syed shah
doaj +1 more source
Journal of Otology, 2017 Alport syndrome is an X-linked syndrome that results in nephritis, renal failure, sensorineural hearing loss, and eye deficits. As a result of sensorineural hearing loss, these individuals are likely to experience difficulties in the area of speech and ...
Ramesh Kaipa, Hannah Tether
doaj +1 more source