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Human Polyclonal RPGRIP1L Primary Antibody for IHC, IHC (p) - ABIN4351046
Yang, Su, Wang, Craige, Witman, Tsou, Liao: Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone. in Scientific reports 2015
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Human Polyclonal RPGRIP1L Primary Antibody for ELISA, WB - ABIN314338
Arts, Doherty, van Beersum, Parisi, Letteboer, Gorden, Peters, Märker, Voesenek, Kartono, Ozyurek, Farin, Kroes, Wolfrum, Brunner, Cremers, Glass, Knoers, Roepman: Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. in Nature genetics 2007
findings expand the repertoire of MKS (显示 MKKS 抗体) module-associated proteins and suggest an MKS-5 and CEP-290 (显示 CEP290 抗体)-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.
Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67 (显示 TMEM67 抗体)/RPGRIP1L and TMEM138 (显示 TMEM138 抗体)/BBS1 (显示 BBS1 抗体), respectively).
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 (显示 IQCB1 抗体) and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR (显示 RPGR 抗体) mutations.
Nek4 interaction with both RPGRIP1 (显示 RPGRIP1 抗体) and the RPGRIP1L is involved in cilium assembly.
Insulin (显示 INS 抗体) was identified as a key factor regulating FTM expression during human preadipocyte differentiation.
CSPP (显示 Cspp1 抗体) isoforms require their common C-terminal domain to interact with Nephrocystin 8 (NPHP8/RPGRIP1L) and to form a ternary complex with NPHP8 and NPHP4 (显示 NPHP4 抗体).
RPGRIP1L interacts with retinitis pigmentosa GTPase (显示 RACGAP1 抗体), loss of which causes retinal degeneration.
Mutations in MKS3 (显示 TMEM67 抗体) are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A (显示 CC2D2A 抗体) and RPGRIP1L.
Mutations can cause the multiorgan phenotypic abnormalities found in cerebello-oculo-renal syndrome or Meckel syndrome.
Rpgrip1l controls ciliary signaling by regulating the activity of the ciliary proteasome via Psmd2 (显示 PSMD2 抗体).
RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog (显示 SHH 抗体) 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 (显示 CUX1 抗体)) regulates expression of the fat mass and obesity-associated (显示 FTO 抗体) and retinitis pigmentosa GTPase regulator-interacting protein-1 (显示 RPGRIP1 抗体)-like (RPGRIP1L) genes and coordinates leptin receptor (显示 LEPR 抗体) signaling.
As Ftm is not essential for cilia assembly but for full Shh (显示 SHH 抗体) 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 (显示 FTO 抗体)/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