Recessive mutations in CAKUT and VACTERL association.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 24875543.
- Also identified by DOI 10.1038/ki.2013.495.
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Abstract
Understanding the complex genetic makeup underlying congenital anomalies of the kidney and urinary tract (CAKUT) is of primary importance to improve diagnosis, stratify risk for later-onset complications, and develop therapeutic strategies. Saisawat et al. used homozygosity mapping coupled with next-generation sequencing to identify recessive mutations in TRAP1 in families with isolated CAKUT and with VACTERL association. This study points to a novel player in kidney development, possibly affecting apoptosis and endoplasmic reticulum stress signaling.
Medical subject headings
- Anal Canal
- DNA Mutational Analysis
- Esophagus
- Exosomes
- Genetic Testing
- HSP90 Heat-Shock Proteins
- Heart Defects, Congenital
- Kidney
- Limb Deformities, Congenital
- Mutation
- Spine
- Trachea
- Vesico-Ureteral Reflux