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findings expand the repertoire of MKS (show MKKS ELISA Kits) module-associated proteins and suggest an MKS-5 and CEP-290 (show CEP290 ELISA Kits)-dependent assembly pathway for building a functional ciliary transition zone
MKS-5 acts to exclude membrane-associated signalling proteins from the transition zone and limits PIP2 ciliary abundance, creating an optimal, discrete ciliary signalling compartment.
these data suggest that NPHP-8/RPGRIP1L plays an important role in cilia formation and cilia-mediated chemosensation in a cell type-specific manner.
All Spanish families with Alstrom syndrome were homozygous for 229A allele of RPGRIP1L, with the exception of a p.A229T heterozygous patient.
First evidence of the association between RPGRIP1L gene and susceptibility of Vascular Dementia.
Data show that the minor allele (N) of I393N in IQCB1 (show IQCB1 ELISA Kits) and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR (show RPGR ELISA Kits) mutations.
Nek4 interaction with both RPGRIP1 (show RPGRIP1 ELISA Kits) and the RPGRIP1L is involved in cilium assembly.
Insulin (show INS ELISA Kits) was identified as a key factor regulating FTM expression during human preadipocyte differentiation.
CSPP isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4 (show NPHP4 ELISA Kits).
RPGRIP1L interacts with retinitis pigmentosa GTPase (show RACGAP1 ELISA Kits), loss of which causes retinal degeneration.
Mutations in MKS3 (show TMEM67 ELISA Kits) are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A (show CC2D2A ELISA Kits) and RPGRIP1L.
Mutations can cause the multiorgan phenotypic abnormalities found in cerebello-oculo-renal syndrome or Meckel syndrome.
T615P mutation represents the most common mutation in the RPGRIP1L gene causing disease in about 8-10% of Joubert syndrome type B patients negative for NPHP1 (show NPHP1 ELISA Kits), NPHP6 (show CEP290 ELISA Kits), or AHI1 (show AHI1 ELISA Kits) mutations
Rpgrip1l controls ciliary signaling by regulating the activity of the ciliary proteasome via Psmd2 (show PSMD2 ELISA Kits).
RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog (show SHH ELISA Kits) signaling pathway.
Rpgrip1l/ mice are hyperphagic.
loss of Ftm leads to shortened cilia and a reduced proliferation in distinct atrial and ventricular ciliary regions at E11.5. Consequently, wall thickness is diminished in these areas
Cut-like homeobox 1 (CUX1 (show CUX1 ELISA Kits)) regulates expression of the fat mass and obesity-associated (show FTO ELISA Kits) and retinitis pigmentosa GTPase regulator-interacting protein-1 (show RPGRIP1 ELISA Kits)-like (RPGRIP1L) genes and coordinates leptin receptor (show LEPR ELISA Kits) signaling.
As Ftm is not essential for cilia assembly but for full Shh (show SHH ELISA Kits) response, Ftm can be considered as a novel component for cilium-related Hh signalling.
Inactivation of mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of cerebello-oculo-renal syndrome and Meckel syndrome.
Examined Fto (show FTO ELISA Kits)/Ftm expression in obese mice exposed to overfeeding,underfeeding and cold.
The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). Two transcript variants encoding different isoforms have been found for this gene.
, proteasome activator complex subunit 4
, protein fantom-like
, RPGR-interacting protein 1-like protein
, fantom homolog
, protein fantom
, RPGRIP1-like protein