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In our study, we identified a novel OFD1 mutation c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with phenotypes of JBTS. The de-novo OFD1 mutation in exon 21 of OFD1 results in a frameshift and a substitution of Arg to Lys (Montrer LYZ Protéines) at the 948th amino-acid residue, generating a prematurely truncated protein.
Loss of OFD1 expression is associated with Oral-facial-digital syndrome type I.
The underlying pathogenesis of CHD (Montrer CHDH Protéines) in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development.
polycystins are necessary for assembly of a novel flotillin (Montrer FLOT2 Protéines)-containing ciliary signaling complex and provide a molecular rationale for the common renal pathologies caused by OFD1 and polycystin mutations.
OFD1 regulation and primary cilium formation are defective in autophagy-deficient cells
loss of BBS1 (Montrer BBS1 Protéines), BBS4 (Montrer BBS4 Protéines), or OFD1 led to decreased NF-kappaB (Montrer NFKB1 Protéines) activity and concomitant IkappaBbeta (Montrer NFKBIB Protéines) accumulation and that these defects were ameliorated with SFN (Montrer SFN Protéines) treatment.
Novel OFD1 mutations have been identified in males with orofaciodigital syndromes and ciliary basal body docking impairment.
Identification of a causative splicing mutation in OFD1, through exome sequencing, in a family with three males having an 'unclassified' X-linked lethal congenital malformation syndrome.
Data indicate that although the OFD1 gene apparently escapes X-inactivation, skewed inactivation was observed in seven of 14 patient.
Deep intronic mutation in OFD1 causes a severe form of X-linked retinitis pigmentosa.
This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified\; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined.
oral-facial-digital syndrome 1
, oral-facial-digital syndrome 1 protein-like
, oral-facial-digital syndrome 1 protein
, protein 71-7A
, retinitis pigmentosa 23 (X-linked recessive)
, oral-facial-digital syndrome 1 gene homolog