Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

Journal of the American Society of Nephrology : JASN - 1 Oct 2006

Weber Stefanie, Moriniere Vincent, Knüppel Tanja, Charbit Marina, Dusek Jirí, Ghiggeri Gian Marco, Jankauskiené Augustina, Mir Sevgi, Montini Giovanni, Peco-Antic Amira, Wühl Elke, Zurowska Aleksandra M, Mehls Otto, Antignac Corinne, Schaefer Franz, Salomon Remi

Abstract excerpt

Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small kidney size, and disorganized renal tissue. A hereditary basis has been established for a subset of affected patients, suggesting a major role of developmental genes that are involved in early kidney organogenesis. Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Hepatocyte Nuclear Factor 1-beta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homeodomain Proteins

Share to Intracellular Signaling Peptides and Proteins

Share to Nuclear Proteins

Share to PAX2 Transcription Factor

Share to Protein Tyrosine Phosphatases

Share to Transcription Factors

Source

Identifiers

PMID: 16971658
DOI: 10.1681/ASN.2006030277

Genes

PAX2
RHD
EYA1
SALL1
SIX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.PMID 16971658Read ↗

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Semantic proximity Read ↗

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.Semantic proximity Read ↗

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.Semantic proximity Read ↗

Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?Semantic proximity Read ↗

PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability.Semantic proximity Read ↗

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.Semantic proximity Read ↗

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.Semantic proximity Read ↗

Expression profiles of congenital renal dysplasia reveal new insights into renal development and diseaseSemantic proximity Read ↗

Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.Semantic proximity Read ↗

Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice.Semantic proximity Read ↗

A novel missense mutation in GREB1L identified in a three-generation family with renal hypodysplasia/aplasia-3.Semantic proximity Read ↗

Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.