Orofaciodigitales Syndrom 1-Protein

Field M et al. (2012) Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

Thauvin-Robinet C et al. (2014) The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation.

Tang Z et al. (2013) Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.

Ferrante MI et al. (2006) Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

Emes RD et al. (2001) A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.

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Budny B et al. (2006) A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.

Webb TR et al. (2012) Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).

Hardcastle AJ et al. (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23).

Zullo A et al. (2010) Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

Ferrante MI et al. (2009) Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.

Thauvin-Robinet C et al. (2006) Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study.

Morisawa T et al. (2004) Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.

Rakkolainen A et al. (2002) Four novel mutations in the OFD1 (Cxorf5) gene in Finnish patients with oral-facial-digital syndrome 1.

Ferrante MI et al. (2001) Identification of the gene for oral-facial-digital type I syndrome.

Coene KL et al. (2009) OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

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