The ciliary protein Rpgrip1l in development and disease.
Sign Up to like & getrecommendations! Published in 2018 at "Developmental biology"
DOI: 10.1016/j.ydbio.2018.07.024
Abstract: RPGRIP1L is an evolutionary highly conserved gene encoding a protein that localises at the transition zone of primary cilia. Mutations in RPGRIP1L result in ciliopathies, severe human diseases caused by dysfunctional cilia. Patients with mutations… read more here.
Keywords: rpgrip1l development; development disease; protein rpgrip1l; ciliary protein ... See more keywords
Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development.
Sign Up to like & getrecommendations! Published in 2019 at "JCI insight"
DOI: 10.1172/jci.insight.123337
Abstract: Intronic polymorphisms in the α-ketoglutarate-dependent dioxygenase gene (FTO) that are highly associated with increased body weight have been implicated in the transcriptional control of a nearby ciliary gene, retinitis pigmentosa GTPase regulator-interacting protein-1 like (RPGRIP1L).… read more here.
Keywords: ciliary gene; pomc neurons; rpgrip1l; gene ... See more keywords
RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry
Sign Up to like & getrecommendations! Published in 2018 at "Oncotarget"
DOI: 10.18632/oncotarget.25259
Abstract: Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their… read more here.
Keywords: rpgrip1 rpgrip1l; activity; rpgrip1l; rpgr rpgrip1 ... See more keywords
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.982127
Abstract: Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in regulating… read more here.
Keywords: meckel gruber; rpgrip1l; gruber syndrome; analysis ... See more keywords
Homozygosity for a novel missense variant of RPGRIP1L causing Joubert syndrome with renal defects in a family of Chinese descent.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical nephrology"
DOI: 10.5414/cn110539
Abstract: The retinitis pigmentosa GTPase regulator interacting protein 1-like gene (RPGRIP1L) encodes a ciliary protein essential for basic embryonic development. Biallelic variants of RPGRIP1L cause Joubert syndrome (JS) with renal defects. In addition to characteristic JS… read more here.
Keywords: rpgrip1l; syndrome renal; joubert syndrome; chinese descent ... See more keywords