Results 21 to 30 of about 8,746 (276)
Mild electrical stimulation and heat shock ameliorates progressive proteinuria and renal inflammation in mouse model of Alport syndrome. [PDF]
PLoS ONE, 2012 Alport syndrome is a hereditary glomerulopathy with proteinuria and nephritis caused by defects in genes encoding type IV collagen in the glomerular basement membrane. All male and most female patients develop end-stage renal disease. Effective treatment
Tomoaki Koga +8 more
doaj +1 more source
Murine models of renal disease: Possibilities and problems in studies using mutant mice [PDF]
, 2000 The elucidation of the pathogenesis of human renal disease at the molecular level has been facilitated by the growing field of gene targeting and the development of mouse strains with single-gene deletions - the `knock-out' mice. Experimental nephrology,
Anders, Hans-Joachim +1 more
core +1 more source
Zdorovʹe Rebenka, 2017 Background. Nephropathy associated with hematuria progress represent the greatest differential diagnostic difficulties because of the similarity of clinical manifestations, especially at the early stages of the disease, which tend to prolonged and ...
V.A. Minakova +2 more
doaj +1 more source
Autosomal Dominant Alport Syndrome Caused by a Novel COL4A4 Gene Mutation: a Case Report and Literature Review [PDF]
Zhongguo quanke yixue, 2023 Alport syndrome (AS) is one of the important causes of chronic kidney disease and end-stage renal disease. It is the second most common inherited kidney disease after autosomal dominant polycystic kidney disease.
GUO Ting, ZHANG Jian, DING Ying, YANG Xiaoqing, ZHAI Wensheng, SONG Chundong, ZHANG Xia, ZHANG Bo, GAO Xuguang, LIU Liya
doaj +1 more source
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
doaj +1 more source
Molecular genetics of hereditary nephritis
Kidney International, 1992 Reeders, Stephen T.
core +4 more sources
Hereditary nephritis (Alport syndrome): MR imaging findings in the brain
, 1998 Previous clinical studies only described epilepsy and EEG abnormalities in patients with hereditary nephritis (Alport syndrome). In this paper, brain MR imaging findings in a 10-month-old boy with hereditary nephritis are described. These included patchy
Sener, RN
core +1 more source
Allergy, Asthma & Clinical Immunology, 2022 Background Hereditary angioedema (HAE) is an inherited disease characterized by recurrent angioedema without urticaria or pruritus. The most common types of HAE are caused by deficiency or dysfunction in C1 esterase inhibitor (C1-INH-HAE).
Yusuke Ushio +13 more
doaj +1 more source
Bull terrier hereditary nephritis: A model for autosomal dominant Alport syndrome
, 1995 Bull terrier hereditary nephritis: A model for autosomal dominant Alport syndrome. Bull terrier hereditary nephritis is inherited as an autosomal dominant disease and causes renal failure at variable ages in affected dogs.
Hendtlass, Anne +11 more
core +1 more source
Arthritis Care &Research, EarlyView.Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg +20 more
wiley +1 more source