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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