Results 71 to 80 of about 4,380 (145)
Stem Cell ResearchX-linked hereditary Alport syndrome (XLAS) type 1 (OMIM: 301050) results from a pathogenic variant in the collagen type IV alpha 5 chain (COL4A5) gene.A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells
Denglu Zhang +4 more
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A variant of unknown significance in the COL4A5 gene-related renal disease: A novel case report
SAGE Open Medical Case ReportsIn this case report, we report our findings of a variant of uncertain significance in the COL4A5 gene in four family members. Patient 0 is a 16-year-old female with no prior medical history referred to Pediatric Nephrology for the evaluation of ...
Teresa Trinka, Mohammed Faizan
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Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome
Frontiers in GeneticsBackgroundAlport syndrome (AS) is a common cause of end-stage renal disease (ESRD) with various clinical symptoms and incomplete manifestation. Patients with AS and other renal disorders are often misdiagnosed. This study reported three X-linked dominant
Jian-Hui Zhang +20 more
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Identification of a Novel COL4A5 Mutation in a Family with X-Linked Alport Syndrome.
, 2015 A. Exon 25 sequencing from a normal male individual. B. Sequencing from a heterozygous female. C. G641E is a mutation that results in 48 abnormal amino acid residues in the COL4A5 protein.
Kuvat T. Momynaliev (678042) +5 more
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Familial co-occurrence of diffuse leiomyomatosis and Alport syndrome: a clinical case report
Сеченовский вестникAlport syndrome (AS) is a hereditary nephropathy caused by mutations in the COL4A3, COL4A4, and COL4A5 genes. Rare contiguous COL4A5–COL4A6 alterations cause AS with diffuse leiomyomatosis (AS-DL).Case report.
М. Boltaboeva +5 more
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In Silico Functional Assessment of COL4A3, COL4A4, and COL4A5 SNPs in Alport Syndrome
Aim: Alport syndrome is a rare genetic disorder characterized by hematuria, proteinuria, progressive renal failure, and, in some cases, hearing and visual impairment.
Beyza Rümeysa Erginal Geç +2 more
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Frequency of variants in COL4A5, COL4A3 and COL4A4 genes in LOVD databases.
, 2016 Frequency of variants in COL4A5, COL4A3 and COL4A4 genes in LOVD databases.
Hee Gyung Kang (3120111) +16 more
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Introduction: Alport syndrome (AS) is an inherited, rare, progressive kidney disease that affects the eye and ear physiology. Pathogenic variants of COL4A5 account for 85% of all cases, while COL4A3 and COL4A4 account for the remaining 15%.
Gezdirici, Alper +9 more
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A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family
Background Alport syndrome (AS) is characterised by haematuria, proteinuria, a gradual decline in kidney function, hearing loss, and eye abnormalities. The disease is caused by mutations in COL4An (n = 3, 4, 5) that encodes 3–5 chains of type IV collagen
Juping Du +5 more
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Turkish Journal of Nephrology, 2019 Alport’s syndrome is a hereditary kidney disease, frequently associated with hearing loss and ocular abnormalities. Type IV collagen is the main constituent of the basement membranes.
Tayfun AKALIN +2 more
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