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Case Reports: that WDR19 mutations can cause dysplastic kidney in addition to nephronophthisis in infants with Sensenbrenner syndrome.
Nephronophthisis 13 (Autosomal Recessive Polycystic Kidney Disease) is associated with mutations in the WDR19 gene.Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population.
WDR19 mutations can cause a broad spectrum of ciliopathies that extends to Jeune and Sensenbrenner syndromes, RP and renal NPHP-like phenotypes
Mutations in WDR19 gene is associated with Caroli disease.
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19
Overexpression of WDR19 is associated with prostate cancer
Mutations in Ift144, encoding a component of the trafficking machinery of primary cilia assembly, result in a range of embryo patterning defects, affecting the limbs, skeleton and neural system. Here, we show that embryos
study describes a mouse with an N-ethyl-N-nitrosourea -induced hypomorphic mutation in the gene encoding the IFT-A protein WDR19/IFT144; phenotypically, this mutant, twinkle-toes (Ift144twt), displays a number of features reminiscent of skeletal ciliopathies; Ift144 mutant embryos display a generalized ligand-independent expansion of hedgehog (zeige SHH Proteine) signalling
A weak allele of the IFT-A gene, Ift144, caused subtle defects in cilia structure and ectopic activation of the Shh (zeige SHH Proteine) pathway.
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains six WD repeats, a clathrin heavy-chain repeat, and three transmembrane domains. This gene is conserved from C. elegans to human. It may participate in androgen-regulated signaling mechanisms or in the vesicular trafficking of androgen-regulated secretory processes. Alternatively spliced transcript variants encoding distinct isoforms have been reported but the full-length nature of one of these variants has not been defined.
WD repeat-containing protein 19
, WD repeat domain 19
, WD repeat-containing protein 19-like
, WD repeat membrane protein PWDMP
, intraflagellar transport 144 homolog