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anti-Mouse (Murine) WDR35 Antibodies:
anti-Rat (Rattus) WDR35 Antibodies:
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These results suggest that bupivacaine activates AMPK (show PRKAA1 Antibodies) and p38 MAPK (show MAPK14 Antibodies) via CaMKK (show CAMKK2 Antibodies) in Neuro2a cells, and that the CaMKK (show CAMKK2 Antibodies)/AMPK (show PRKAA1 Antibodies)/p38 MAPK (show MAPK14 Antibodies) pathway is involved in regulating WDR35 expression.
C-Jun (show JUN Antibodies) 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 signaling pathway.
Homozygous missense mutation in WDR35 gene is associated with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy.
The observations of the Sensenbrenner syndrome patient in this study provide additional clinical data and expand the molecular spectrum of Sensenbrenner syndrome. Moreover, the two variants identified in the proband provide further evidence for the WDR35 mutations as the most common cause of this rare syndrome.
A differential diagnosis of Sensenbrenner Syndrome was made after a novel homozygous missense mutation in WDR35 was identified in a patient with initial diagnosis of Jeune syndrome.
Wdr35 regulates cilium assembly by selectively regulating transport of distinct cargoes.
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 (show EVC Antibodies) cases by disrupting targeting of both the EvC (show EVC Antibodies) complex and Smoothened (show SMO Antibodies) 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 structural elements in WDR35.
WDR35 is homologous to TULP4 (show TULP4 Antibodies) (from the Tubby (show TUB Antibodies) superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder.
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