OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

doi:10.1093/hmg/ddv488

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Article

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Human molecular genetics - 1 Feb 2016

Chevrier Véronique, Bruel Ange-Line, Van Dam Teunis J P, Franco Brunella, Lo Scalzo Melissa, Lembo Frédérique, Audebert Stéphane, Baudelet Emilie, Isnardon Daniel, Bole Angélique, Borg Jean-Paul, Kuentz Paul, Thevenon Julien, Burglen Lydie, Faivre Laurence, Rivière Jean-Baptiste, Huynen Martijn A, Birnbaum Daniel, Rosnet Olivier, Thauvin-Robinet Christel

Abstract excerpt

Oral-facial-digital (OFD) syndromes are rare heterogeneous disorders characterized by the association of abnormalities of the face, the oral cavity and the extremities, some due to mutations in proteins of the transition zone of the primary cilia or the closely associated distal end of centrioles. These two structures are essential for the formation of functional cilia, and for signaling events during...

Topics

Amino Acid Sequence
Base Sequence
Centrioles
Centrosome
Cilia
Conserved Sequence
Female
Gene Expression
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant, Newborn

Microtubule-Associated Proteins

Molecular Sequence Data

Mutation

Orofaciodigital Syndromes

Protein Binding

Proteins

Sequence Alignment

Source

Open in PubMed

Identifiers

PMID: 26643951
DOI: 10.1093/hmg/ddv488

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-26643951-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.PMID 26643951Read ↗

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