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

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.

Human mutation - 1 Feb 2016

Shylo Natalia A, Christopher Kasey J, Iglesias Alejandro, Daluiski Aaron, Weatherbee Scott D

Abstract excerpt

The proximate causes of multiple human genetic syndromes (ciliopathies) are disruptions in the formation or function of the cilium, an organelle required for a multitude of developmental processes. We previously identified Tmem107 as a critical regulator of cilia formation and embryonic organ development in the mouse. Here, we describe a patient with a mutation in TMEM107 that developed atypical Orofaciodigital...

Read the complete abstract on PubMed

Topics

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

Share to Cilia
Share to Exome
Share to Fibroblasts

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression

Share to Membrane Proteins

Share to Orofaciodigital Syndromes

Share to Primary Cell Culture

Share to Sequence Alignment

Source

Identifiers

PMID: 26518474
DOI: 10.1002/humu.22925

Genes

TMEM107

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome.PMID 26518474Read ↗

Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling.Semantic proximity Read ↗

Identification of a novel MKS locus defined by TMEM107 mutation.Semantic proximity Read ↗

Tmem138, a photoreceptor connecting cilium (CC) protein, is required for rhodopsin transport across the cilium and outer segment (OS) biogenesisSemantic proximity Read ↗

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.Semantic proximity Read ↗

EMC3 regulates trafficking and pulmonary toxicity of the SFTPCI73T mutation associated with interstitial lung diseaseSemantic proximity Read ↗

Two functional forms of the Meckel-Gruber syndrome protein TMEM67 generated by proteolytic cleavage by ADAMTS9 mediate Wnt signaling and ciliogenesisSemantic proximity Read ↗

Biallelic loss-of-function variants in the centriolar protein CCP110 leads to a ciliopathy-like phenotype.Semantic proximity Read ↗

Cep97 and CP110 suppress a cilia assembly program.Semantic proximity Read ↗

Polaris, a protein disrupted in orpk mutant mice, is required for assembly of renal cilium.Semantic proximity Read ↗

Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos.Semantic proximity Read ↗

Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome.Semantic proximity Read ↗

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