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Psychomotor development was apparently normal. Molecular analysis in one of the affected individuals identified compound heterozygosity for a nonsense (c.1922T>G, p.(Leu641*)) and missense (c.2522A>T, p.(Asp841Val)) variants in WDR35. We
Splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of Ellis-van Creveld syndrome cases by disrupting targeting of both the EvC complex and Smoothened to cilia.
report on the detection of novel WDR35 mutations in two unrelated cranioectodermal dysplasia patients
A pathogenic WDR35 mutation was identified in a family with a complex clinical presentation that includes significant overlap of the phenotypes described in Sensenbrenner syndrome and the unclassified short-rib polydactyly syndromes.
Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that short-rib polydactyly mutations affect key structura (show SHH ELISA Kits)l elements in WDR35.
WDR35 is homologous to TULP4 (from the Tubby (show TUB ELISA Kits) superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.
These results indicated that naofen may function as a novel modulator activating caspase-3 (show CASP3 ELISA Kits), and promoting TNF-alpha (show TNF ELISA Kits)-stimulated apoptosis.
These results suggest that bupivacaine activates AMPK (show PRKAA1 ELISA Kits) and p38 MAPK (show MAPK14 ELISA Kits) via CaMKK (show CAMKK2 ELISA Kits) in Neuro2a cells, and that the CaMKK (show CAMKK2 ELISA Kits)/AMPK (show PRKAA1 ELISA Kits)/p38 MAPK (show MAPK14 ELISA Kits) pathway is involved in regulating WDR35 expression.
C-Jun (show JUN ELISA Kits) siRNA did not inhibit the bupivacaine-induced increase in WDR35 mRNA expression.
In a mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog (show SHH ELISA Kits) signaling 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. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.
WD repeat-containing protein 35
, intraflagellar transport protein 121 homolog