Search Results - "Sterken, Roel"
-
1
Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection
Published in The New England journal of medicine (16-05-2019)“…This study explored gene-disrupting variants as risk factors for allosensitization in kidney transplant recipients. Genomic collision at the LIMS1 locus, which…”
Get full text
Journal Article -
2
Combined linkage and association mapping reveals "CYCD5;1" as a quantitative trait gene for endoreduplication in Arabidopsis
Published in Proceedings of the National Academy of Sciences - PNAS (20-03-2012)“…Endoreduplication is the process where a cell replicates its genome without mitosis and cytokinesis, often followed by cell differentiation. This alternative…”
Get full text
Journal Article -
3
A retrotransposon insertion in the 5' regulatory domain of Ptf1a results in ectopic gene expression and multiple congenital defects in Danforth's short tail mouse
Published in PLoS genetics (01-02-2013)“…Danforth's short tail mutant (Sd) mouse, first described in 1930, is a classic spontaneous mutant exhibiting defects of the axial skeleton, hindgut, and…”
Get full text
Journal Article -
4
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
Published in American journal of human genetics (07-12-2012)“…We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases…”
Get full text
Journal Article -
5
The genetics of albuminuria: from haplotype association mapping in mice to genetic causation in humans
Published in Kidney international (01-02-2010)“…Genome-wide haplotype association mapping (HAM) in inbred mouse strains emerged as an efficient method for identifying novel quantitative trait loci for…”
Get full text
Journal Article -
6
APOL1 Variants Increase Risk for FSGS and HIVAN but Not IgA Nephropathy
Published in Journal of the American Society of Nephrology (01-11-2011)“…A chromosome 22q13 locus strongly associates with increased risk for idiopathic focal segmental glomerulosclerosis (FSGS), HIV-1-associated nephropathy…”
Get full text
Journal Article -
7
The molecular pathogenesis of HIV-1 associated nephropathy: recent advances
Published in Journal of molecular medicine (Berlin, Germany) (01-05-2011)“…HIV-1-associated nephropathy (HIVAN) is a major complication of HIV-1 infection, frequently resulting in kidney failure. HIVAN arises due to HIV-1-induced…”
Get full text
Journal Article -
8
Population Genomics Study of the Arabidopsis Core Cell Cycle Genes Shows the Signature of Natural Selection
Published in The Plant cell (01-10-2009)“…Large-scale comparison of sequence polymorphism and divergence at numerous genomic loci within and between closely related species can reveal signatures of…”
Get full text
Journal Article -
9
Identification of the Nephropathy-Susceptibility Locus HIVAN4
Published in Journal of the American Society of Nephrology (01-08-2011)“…HIVAN1, HIVAN2, and HIVAN3 are nephropathy-susceptibility loci previously identified in the HIV-1 transgenic mouse, a model of collapsing glomerulopathy. The…”
Get full text
Journal Article -
10
Genome-wide screening for cis-regulatory variation using a classical diallel crossing scheme
Published in Nucleic acids research (01-01-2006)“…Large-scale screening studies carried out to date for genetic variants that affect gene regulation are generally limited to descriptions of differences in…”
Get full text
Journal Article -
11
A Retrotransposon Insertion in the 5' Regulatory Domain of Ptf1a Results in Ectopic Gene Expression and Multiple Congenital Defects in Danforth's Short Tail Mouse. e1003206
Published in PLoS genetics (01-02-2013)“…Danforth's short tail mutant (Sd) mouse, first described in 1930, is a classic spontaneous mutant exhibiting defects of the axial skeleton, hindgut, and…”
Get full text
Journal Article -
12
Genome-wide screening for cis-regulatory variation using a classical diallel crossing scheme
Published in Nucleic acids research (01-02-2007)Get full text
Journal Article