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OFD1
Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18177199 |
exon 3 nucleotide change, 243C>G, leading to the missense mutation H81Q, [is] causative mutation [of] orofaciodigital I syndrome |
| 17761535 |
OFD1 may be part of a multi-protein complex and could play different biological functions in the centrosome-primary cilium organelles as well as in the nuclear compartment |
| 12782125 |
demonstrated that OFD1 is conserved among vertebrates and absent in invertebrates; evolutionarily conserved domains in the protein were identified; nonfunctional OFD1 copies, organized in repeat units on the human Y chromosome, were identified |
| 12595504 |
OFD1 plays a role in differentiation of metanephric precursor cells. |
| 15466260 |
These striking patterns of OFD1 localization within cells place the protein at key sites, where it may play roles not only in microtubule organization (centrosomal function) but also in mechanosensation of urine flow (a primary ciliary function). |
| 16397067 |
In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. |
| 16783569 |
Study reports on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. |
Recent Publications on OFD1: |  |
Primary cilia of odontoblasts: possible role in molar morphogenesis.
A primary cilium, a sensory organelle present in almost every vertebrate... | 3rd November, 2009
| University of Lyon, Villeurbanne, F-69100, France.
| J Dent Res. 2009 Oct;88(10):910-5.
DOI Direct Link |
The molecular basis of oral-facial-digital syndrome, type 1.
Oral-facial-digital syndrome type 1 (OFDI; OFD1; OMIM 311200) is a rare... | 31st October, 2009
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| Am J Med Genet C Semin Med Genet. 2009 Oct 28;151C(4):318-325.
DOI Direct Link |
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
We ascertained a multi-generation Malaysian family with Joubert syndrome... | 29th October, 2009
| Department of Human Genetics, Radboud University Nijmegen Medical Centre,
| Am J Hum Genet. 2009 Oct;85(4):465-81.
DOI Direct Link |
Identification of novel antigens with induced immune response in monoclonal gammopathy of undetermined significance.
The transformation from monoclonal gammopathy of undetermined significance... | 29th October, 2009
| Jerome Lipper Multiple Myeloma Center and LeBow Institute for Myeloma
| Blood. 2009 Oct 8;114(15):3276-84. Epub 2009 Jul 8.
DOI Direct Link |
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A,... | 13th October, 2009
| Centre de Genetique, Hopital d'Enfants, CHU Dijon, France.
| Clin Genet. 2009 Oct 8.
DOI Direct Link |
→View more research publications. |
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