Results 51 to 60 of about 12,421 (264)
Targeted exome sequencing integrated with clinicopathological information reveals novel and rare mutations in atypical, suspected and unknown cases of Alport syndrome or proteinuria [PDF]
, 2013 We applied customized targeted next-generation exome sequencing (NGS) to determine if mutations in genes associated with renal malformations, Alport syndrome (AS) or nephrotic syndrome are a potential cause of renal abnormalities in patients with ...
Chatterjee, Rajshekhar +5 more
core +7 more sources
The FEBS Journal, EarlyView.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
Hereditäre Nephropathien: Dünne Basalmembranen, Alport-Glomerulopathie, Alport-Konduktorinnen [PDF]
, 2018 Zusammenfassung: Das Syndrom der dünnen Basalmembranen und das Alport-Syndrom sind hereditäre Nephropathien, die die glomerulären Basalmembranen betreffen.
Hopfer, H., Mihatsch, M.J.
core
Journal of Diabetes Investigation, EarlyView.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
Aki associated with macroscopic glomerular hematuria: Clinical and pathophysiologic consequences [PDF]
, 2012 Hematuria is a common finding in various glomerular diseases. This article reviews the clinical data on glomerular hematuria and kidney injury, as well as the pathophysiology of hematuria-associated renal damage.
Alberto Ortiz +29 more
core +2 more sources
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
doaj +1 more source
#5441 EVIDENCE THAT CHAPERONE 4-PBA TREATMENT ALLEVIATES THE RENAL PHENOTYPE IN ALPORT SYNDROME MOUSE MODELS [PDF]
, 2023 Pavlos Ioannou +10 more
openalex +1 more source
Veterinary Ophthalmology, Volume 28, Issue 2, Page 141-149, March 2025.Abstract Objective To investigate the prevalence and surgical outcome of lens capsule disruption (LCD) in dogs undergoing cataract removal. Animals studied Medical records of 924 eyes undergoing phacoemulsification were analyzed retrospectively. Procedures Routine cataract surgeries with or without LCD were included. Any LCD other than routine anterior
Amy L. M. M. Andrews +2 more
wiley +1 more source
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
doaj +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