Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of conserved residues essential for the ciliogenic functions of WDPCP.

Disease models & mechanisms - 1 Nov 2025

Choi Yeon Ja, Hwang Sungbo, Lee Chanjae, Zeng Huiqing, Chen Xi, Jo Ukhyun, Kim Hyungjin, Liu Aimin, Park Daeui, Wallingford John B, Chen Jiang

Abstract excerpt

Here, we report a genetically engineered mouse model expressing a mutant Wdpcp gene that harbors a deletion of two codons encoding D481 and W482 that correspond to N512 and W513 in human WDPCP. Homozygous mutant mice, designated as Wdpcp-Z11, exhibited severe developmental abnormalities, including neural tube defects, craniofacial malformation, anophthalmia and polydactyly. The mutant WDPCP protein was expressed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Conserved Sequence

Share to Hedgehog Proteins

Share to Models, Molecular

Share to Signal Transduction

Source

Open in PubMed Open full text

Identifiers

PMID: 41268724
DOI: 10.1242/dmm.052149
PMCID: PMC12673966

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of conserved residues essential for the ciliogenic functions of WDPCP.PMID 41268724Read ↗

Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton.Semantic proximity Read ↗

WDR31 is a novel ciliopathy protein displaying functional redundancy with GTPase-activating proteins ELMOD and RP2 in recruiting BBSome to ciliumSemantic proximity Read ↗

WD40-Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System.Semantic proximity Read ↗

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.Semantic proximity Read ↗

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.Semantic proximity Read ↗

The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical developmentSemantic proximity Read ↗

Disease-associated mutations in WDR34 lead to diverse impacts on the assembly and function of dynein-2Semantic proximity Read ↗

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.Semantic proximity Read ↗

PDZ Structure and Implication in Selective Drug Design against Cystic Fibrosis.Semantic proximity Read ↗

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney diseaseSemantic proximity Read ↗

Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.Semantic proximity Read ↗

Disruption of a ciliary B9 protein complex causes Meckel syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.