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OFD1 gene
Known as:
Oral-Facial-Digital Syndrome 1 Gene
, 71-7A
, OFD1
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This gene may play a role in the regulation of embryonic development.
National Institutes of Health
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Related topics
Related topics
4 relations
JOUBERT SYNDROME 10 (disorder)
Oral-Facial-Digital Syndrome 1 Protein
Orofaciodigital Syndrome I
Narrower (1)
OFD1 wt Allele
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
Christina Alamillo
,
Z. Powis
,
+11 authors
Sha Tang
Prenatal Diagnosis
2015
Corpus ID: 12218562
Exome sequencing is a successful option for diagnosing individuals with previously uncharacterized genetic conditions, however…
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Highly Cited
2014
Highly Cited
2014
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Yangfan P. Liu
,
I‐Chun Tsai
,
+9 authors
N. Katsanis
Journal of Clinical Investigation
2014
Corpus ID: 3325809
Cilia are critical mediators of paracrine signaling; however, it is unknown whether proteins that contribute to ciliopathies…
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Highly Cited
2013
Highly Cited
2013
Autophagy Promotes Primary Ciliogenesis by Removing OFD1 from Centriolar Satellites
Zaiming Tang
,
Mary G. Lin
,
+5 authors
Q. Zhong
Nature
2013
Corpus ID: 1528187
The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis…
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Highly Cited
2012
Highly Cited
2012
Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
T. Webb
,
David A. Parfitt
,
+13 authors
A. Hardcastle
Human Molecular Genetics
2012
Corpus ID: 2631236
X-linked retinitis pigmentosa (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2. We…
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Highly Cited
2010
Highly Cited
2010
Ofd1, a human disease gene, regulates the length and distal structure of centrioles.
Veena Singla
,
M. Romaguera-Ros
,
J. García-Verdugo
,
Jeremy F. Reiter
Developmental Cell
2010
Corpus ID: 34947367
Highly Cited
2009
Highly Cited
2009
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
K. Coene
,
R. Roepman
,
+15 authors
A. D. de Brouwer
American Journal of Human Genetics
2009
Corpus ID: 25922725
Highly Cited
2008
Highly Cited
2008
Oxygen‐regulated degradation of fission yeast SREBP by Ofd1, a prolyl hydroxylase family member
B. T. Hughes
,
P. Espenshade
EMBO Journal
2008
Corpus ID: 15784695
Sre1, the fission yeast sterol regulatory element binding protein, is an endoplasmic reticulum membrane‐bound transcription…
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Highly Cited
2006
Highly Cited
2006
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
M. Ferrante
,
Alessandro Zullo
,
+5 authors
B. Franco
Nature Genetics
2006
Corpus ID: 2441702
The oral-facial-digital type I (OFD1) syndrome (OMIM 311200) is a human developmental disorder; affected individuals have…
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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.
L. Romio
,
A. Fry
,
P. Winyard
,
S. Malcolm
,
A. Woolf
,
S. Feather
Journal of the American Society of Nephrology
2004
Corpus ID: 22088755
OFD1 is the gene responsible for the oral-facial-digital syndrome type 1, a cause of inherited cystic renal disease. The protein…
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Highly Cited
2001
Highly Cited
2001
Identification of the gene for oral-facial-digital type I syndrome.
M. Ferrante
,
S. Feather
,
+13 authors
B. Franco
American Journal of Human Genetics
2001
Corpus ID: 26346036
Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males…
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