Insights into glomerular filtration and albuminuria
Glomerular Filtration and Albuminuria Chronic kidney diseases generally arise from a
disordered kidney filtration barrier within glomeruli. This review describes the roles of …
disordered kidney filtration barrier within glomeruli. This review describes the roles of …
The good and the bad collagens of fibrosis–their role in signaling and organ function
Usually the dense extracellular structure in fibrotic tissues is described as extracellular
matrix (ECM) or simply as collagen. However, fibrosis is not just fibrosis, which is already …
matrix (ECM) or simply as collagen. However, fibrosis is not just fibrosis, which is already …
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations
R Jayadev, MRPT Morais, JM Ellingford… - Science …, 2022 - science.org
Basement membranes (BMs) are ubiquitous extracellular matrices whose composition
remains elusive, limiting our understanding of BM regulation and function. By developing a …
remains elusive, limiting our understanding of BM regulation and function. By developing a …
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
Alport syndrome: achieving early diagnosis and treatment
CE Kashtan - American Journal of Kidney Diseases, 2021 - Elsevier
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular,
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …
Guidelines for genetic testing and management of Alport syndrome
J Savige, BS Lipska-Zietkiewicz, E Watson… - Clinical Journal of the …, 2022 - journals.lww.com
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020
CE Kashtan, O Gross - Pediatric Nephrology, 2021 - Springer
In 2013, we published a set of clinical practice recommendations for the treatment of Alport
syndrome in this journal. We recommended delaying the initiation of angiotensin-converting …
syndrome in this journal. We recommended delaying the initiation of angiotensin-converting …
Whole exome sequencing of patients with steroid-resistant nephrotic syndrome
JK Warejko, W Tan, A Daga, D Schapiro… - Clinical Journal of the …, 2018 - journals.lww.com
Results In 74 of 300 families (25%), we identified a causative mutation in one of 20 genes
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
known to cause steroid-resistant nephrotic syndrome. In 11 families (3.7%), we detected a …
[HTML][HTML] Basement membranes: structure, assembly and role in tumour angiogenesis
R Kalluri - Nature Reviews Cancer, 2003 - nature.com
In recent years, the basement membrane (BM)—a specialized form of extracellular matrix
(ECM)—has been recognized as an important regulator of cell behaviour, rather than just a …
(ECM)—has been recognized as an important regulator of cell behaviour, rather than just a …
Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome
M Kestilä, U Lenkkeri, M Männikkö, J Lamerdin… - Molecular cell, 1998 - cell.com
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive
disorder, characterized by massive proteinuria in utero and nephrosis at birth. In this study …
disorder, characterized by massive proteinuria in utero and nephrosis at birth. In this study …