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This work is a strong support of a model of opsin transport where, once at the base of the cilium, the opsin is carried through the connecting cilium by an IFT complex that includes IFT140
We have identified a novel ENU mutant allele of Ift140, which causes a mid-gestation embryonic lethal phenotype in homozygous mutant mice.We also report the identification of a homozygous recessive mutation in IFT140 in a Jeune syndrome patient.
A maternally inherited homozygous biallelic mutation altering the exon 6 splice donor site in IFT140 gene causes Mainzer-Saldino syndrome.
We provide the first description of an Opitz trigonocephaly C syndrome (OTCS) phenotype that appears to result from IFT140 mutations. The presentation of this patient is consistent with previous reports showing that OTCS already exhibited skeleletal and nonskeletal features of a ciliopathy
Recessive IFT140 mutations cause a severe congenital retinal dystrophy with high hyperopia and often early photophilia. Developmental delay is common but not universal and not all patients have obvious extraocular findings.
This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease.
Identification of IFT140 variants in multiple unrelated non-syndromic Leber congenital amaurosis and retinitis pigmentosa.
Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome.
present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy
IFT140 mutations were identified in Mainzer-Saldino syndrome. IFT140 plays a role in proper development and function of ciliated cells.
loss of Ift140 causes pronounced renal cystic disease and suggest that abnormalities in several different pathways may influence cyst progression.
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment, such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding protein in mouse results in renal cystic disease.
intraflagellar transport 140 homolog (Chlamydomonas)
, intraflagellar transport protein 140 homolog
, intraflagellar transport 140 homolog
, T-complex expressed gene 5
, WD and tetratricopeptide repeats 2
, WD and tetratricopeptide repeats protein 2