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OFD1 gene

Known as: Oral-Facial-Digital Syndrome 1 Gene, 71-7A, OFD1 
This gene may play a role in the regulation of embryonic development.
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however… 
Highly Cited
2014
Highly Cited
2014
Cilia are critical mediators of paracrine signaling; however, it is unknown whether proteins that contribute to ciliopathies… 
Highly Cited
2013
Highly Cited
2013
The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis… 
Highly Cited
2012
Highly Cited
2012
X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We… 
Highly Cited
2008
Highly Cited
2008
Sre1, the fission yeast sterol regulatory element binding protein, is an endoplasmic reticulum membrane‐bound transcription… 
Highly Cited
2006
Highly Cited
2006
The oral-facial-digital type I (OFD1) syndrome (OMIM 311200) is a human developmental disorder; affected individuals have… 
Highly Cited
2004
Highly Cited
2004
OFD1 is the gene responsible for the oral-facial-digital syndrome type 1, a cause of inherited cystic renal disease. The protein… 
Highly Cited
2001
Highly Cited
2001
Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males…