Chinese family with diffuse oesophageal leiomyomatosis: A new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism [PDF]
, 2015 © 2015 Liu et al. Background: Diffuse oesophageal leiomyomatosis (DOL) is a rare disorder characterized by tumorous overgrowth of the muscular wall of the oesophagus. DOL is present in 5 % of Alport syndrome (AS) patients. AS is a rare hereditary disease
Cherny, Stacey S. +13 more
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"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]
Iranian Journal of Public Health, 1993 Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj +2 more sources
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara +5 more
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Stage-Specific Action of Matrix Metalloproteinases Influences Progressive Hereditary Kidney Disease [PDF]
, 2013 Background: Glomerular basement membrane (GBM), a key component of the blood-filtration apparatus in the in the kidney, is formed through assembly of type IV collagen with laminins, nidogen, and sulfated proteoglycans. Mutations or deletions involving \(\
Cosgrove, Dominic +8 more
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Tissue is the issue : when a second biopsy reveals the true diagnosis [PDF]
, 2021 We describe the case of a woman with minimal glomerular changes on initial kidney biopsy. On long-term follow-up, the patient developed nephrotic proteinuria and a second kidney biopsy was performed, which revealed focal segmental glomerulosclerosis ...
Bogaert, Anne-Marie +5 more
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A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen [PDF]
, 2016 BACKGROUND: Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure
Connor, TM +8 more
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Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5
Frontiers in Genetics, 2023 Alport syndrome (#308940) is an X-linked genetic disease with clinical manifestations, such as hematuria, proteinuria, renal insufficiency, and end-stage renal disease.
Shujun Pan, Rizhen Yu, Shikai Liang
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Nanoscale protein architecture of the kidney glomerular basement membrane [PDF]
, 2013 In multicellular organisms, proteins of the extracellular matrix (ECM) play structural and functional roles in essentially all organs, so understanding ECM protein organization in health and disease remains an important goal.
Dani, Adish +6 more
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Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2017 Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, central perimacular and peripheral coalescing fleck retinopathies, and ...
Ravi Kant Bamotra +3 more
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Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke [PDF]
, 2013 Haemorrhagic stroke accounts for approximately 20% of stroke cases and porencephaly is a clinical consequence of perinatal cerebral haemorrhaging. Here we report the identification of a novel dominant G702D mutation in the collagen domain of COL4A2 ...
Aislynn Taggart +35 more
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