Search
Now showing items 1-10 of 13
Evidence for activation of the unfolded protein response in collagen iv nephropathies
(2014)
Thin-basement-membrane nephropathy (TBMN) and Alport syndrome (AS) are progressive collagen IV nephropathies caused by mutations in COL4A3/A4/A5 genes. These nephropathies invariably present with microscopic hematuria and ...
Cyst formation in the PKD2 (1-703) transgenic rat precedes deregulation of proliferation-related pathways
(2010)
Background: Polycystic Kidney Disease is characterized by the formation of large fluid-filled cysts that eventually destroy the renal parenchyma leading to end-stage renal failure. Although remarkable progress has been ...
Autosomal dominant polycystic kidney disease: Molecular genetics and molecular pathogenesis
(2000)
Mutations in three different genes, PKD1, PKD2 and PKD3, can cause a very similar clinical picture of the autosomal dominant form of polycystic kidney disease (ADPKD). Apparently, mutations in the PKD3 gene, which is still ...
RAAS inhibition and the course of Alport syndrome
(2016)
Alport syndrome (AS) is a hereditary progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD). Most patients will reach ESRD before the age of 30 years, while a subset of them with milder ...
An error in dystrophin mRNA processing in golden retriever muscular dystrophy, an animal homologue of Duchenne muscular dystrophy
(1992)
Golden retriever muscular dystrophy (GRMD) is a spontaneous, X-linked, progressively fatal disease of dogs and is also a homologue of Duchenne muscular dystrophy (DMD). Two-thirds of DMD patients carry detectable deletions ...
Alport syndrome from bench to bedside: The potential of current treatment beyond RAAS blockade and the horizon of future therapies
(2014)
The hereditary type IV collagen disease Alport syndrome (AS) always leads to end-stage renal failure. Yesterday, for the past 90 years, this course was described as 'inevitable'. Today, RAAS blockade has changed the ...
Increased number of MicroRNA target sites in genes encoded in CNV regions. Evidence for an evolutionary genomic interaction
(2011)
MicroRNAs (miRNAs) and copy number variations (CNVs) are two newly discovered genetic elements that have revolutionized the field of molecular biology and genetics. By performing in silico whole genome analysis, we demonstrate ...
CNVs-microRNAs interactions demonstrate unique characteristics in the human genome. An interspecies in silico analysis
(2013)
MicroRNAs (miRNAs) and copy number variations (CNVs) represent two classes of newly discovered genomic elements that were shown to contribute to genome plasticity and evolution. Recent studies demonstrated that miRNAs and ...
RNA intereference: A powerful laboratory tool and its therapeutic implications
(2006)
Ever since RNA intereference (RNAi) was discovered in the early 1990s, a number of scientists from the academic and biotechnology world have continued to view it as the revolutionary discovery of the century. Unequivocally, ...
Mutant polycystin-2 induces proliferation in primary rat tubular epithelial cells in a STAT-1/p21-independent fashion accompanied instead by alterations in expression of p57KIP2 and Cdk2
(2008)
Background. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is characterized by the formation of multiple fluid-filled cysts that destroy the kidney architecture resulting in end-stage renal failure. Mutations in genes ...