FAQ

Orofaciodigital Syndrome I

Known as: OFD1, Papillon Leage and Psaume Syndrome, Gorlin Psaume Syndrome 
 

Topic mentions per year

Topic mentions per year

1997-2017
051019972017

Related topics

Related topics

26 relations
Agenesis of corpus callosumAlopeciaArachnoid CystsBrachydactyly
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Broader (1)

Orofaciodigital Syndromes

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Orofaciodigital Syndrome I
Seizures
Dental caries
hearing impairment
Alopecia
Fibrosis, Liver

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Autophagy Promotes Primary Ciliogenesis by Removing OFD1 from Centriolar Satellites
The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis… (More)
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2012
2012
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We… (More)
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Highly Cited
2011
Highly Cited
2011
Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.
Ciliopathies are caused by mutations in genes encoding proteins required for cilia organization or function. We show through… (More)
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Highly Cited
2010
Highly Cited
2010
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degeneration occurring… (More)
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Highly Cited
2010
Highly Cited
2010
Ofd1, a human disease gene, regulates the length and distal structure of centrioles.
Centrosomes and their component centrioles represent the principal microtubule organizing centers of animal cells. Here, we show… (More)
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Highly Cited
2009
Highly Cited
2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
We ascertained a multi-generation Malaysian family with Joubert syndrome (JS). The presence of asymptomatic obligate carrier… (More)
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2007
2007
Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex.
Oral-facial-digital (OFD) type I syndrome is an X-linked dominant disease (MIM311200) characterized by malformations of oral… (More)
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Highly Cited
2006
Highly Cited
2006
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome
We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and… (More)
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Highly Cited
2004
Highly Cited
2004
OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.
OFD1 is the gene responsible for the oral-facial-digital syndrome type 1, a cause of inherited cystic renal disease. The protein… (More)
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Highly Cited
2001
Highly Cited
2001
Identification of the gene for oral-facial-digital type I syndrome.
Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males… (More)
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