Results 51 to 60 of about 5,335 (170)
Multidisciplinary Management of Alport Syndrome: Current Perspectives
Journal of Multidisciplinary Healthcare, 2021 Clifford Kashtan Department of Pediatrics, Division of Pediatric Nephrology, University of Minnesota Medical School, Minneapolis, MN, 55454, USACorrespondence: Clifford Kashtan Email kasht001@umn.eduAbstract: Alport syndrome is a multisystem disorder ...
Kashtan C
doaj
En face optical coherence tomography findings in a case of Alport syndrome
Indian Journal of Ophthalmology, 2017 Alport syndrome is a rare hereditary disease that is associated with retinal abnormalities such as dot-and-fleck retinopathy and temporal macular thinning.
In Hwan Cho +3 more
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The FEBS Journal, Volume 293, Issue 13, Page 3758-3787, July 2026.The extracellular matrix (ECM) is a dynamic scaffold that orchestrates tissue architecture and cellular communication. A critical but underexplored interplay between proteases and cluster of differentiation molecules (CD) governs ECM turnover and directs cell fate.
David Jurnečka +3 more
wiley +1 more source
Case Reports in Ophthalmology, 2023 We present a case of unilateral full-thickness macular hole (MH) successfully repaired with an amniotic membrane (AM) graft in a patient with Alport syndrome.
Sayena Jabbehdari +3 more
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Journal of Diabetes Investigation, Volume 17, Issue 6, Page 1000-1003, June 2026.We examined the frequency of diagnostic variants associated with Mendelian kidney disease in patients with type 2 diabetes and compared their prevalence between those with and without DKD. A total of 2177 patients with type 2 diabetes were examined. The prevalences of diagnostic variant of Mendelian kidney disease were 8.6% (DKD +) vs 7.8%, and there ...
Yosuke Hirakawa +2 more
wiley +1 more source
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 +5 more
wiley +1 more source
A Case Series of Alport Syndrome with Posterior Lenticonus
Journal of Clinical and Diagnostic ResearchAlport syndrome is a genetic disorder primarily affecting the kidneys, eyes, and ears, characterised by a classical triad of haematuria, anterior lenticonus, and sensorineural deafness.
Sumit Navneet Toshniwal +4 more
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A rare cause of nephrotic syndrome
Saudi Journal of Kidney Diseases and Transplantation, 2020 Classical Alport syndrome is a rare X-linked disease of males (85%) presenting early with hematuria, ocular, and hearing defects. Proteinuria and renal failure are less common in the early stages. Here, we report the case of a young female with nephrotic
Remi George Thomas +4 more
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Journal of Extracellular Vesicles, Volume 15, Issue 5, May 2026.This systematic review compiles and analyses 364 studies on chronic kidney disease (CKD) that investigated extracellular vesicles (EVs) for diagnostic and therapeutic applications. By systematically categorizing data according to EV source and cargo, it provides an integrated overview of EV application for CKD, highlighting common approaches and shared
Tunahan Ergunay +2 more
wiley +1 more source
Creation of X-linked Alport syndrome rat model with Col4a5 deficiency
Scientific Reports, 2021 Alport syndrome is an inherited chronic human kidney disease, characterized by glomerular basement membrane abnormalities. This disease is caused by mutations in COL4A3, COL4A4, or COL4A5 gene.
Masumi Namba +6 more
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