Matches in SemOpenAlex for { <https://semopenalex.org/work/W4292493023> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W4292493023 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 cilia formation and function. Mutations in RPGRIP1L cause ciliopathies associated with severe embryonic defects, such as Meckel-Gruber Syndrome (MKS). Here we report RPGRIP1L mutation analysis in a family diagnosed with MKS. The clinical manifestations of the fetus included thoraco-lumbar open neural tube defect with associated Chiari type II malformation and hydrocephalus, bilateral club feet, and single right kidney/ureter. Analysis of the parental DNA samples revealed that the father carried a previously reported mutation R1236C/+ whereas the mother had a novel splice site mutation IVS6+1 G > A/+ in RPGRIP1L . The splice site mutation resulted in the exclusion of in-frame exon 6 of RPGRIP1L (RPGRIP1L-∆Ex6) but expressed a stable protein in fibroblasts derived from the parents’ skin biopsies. The GFP-RPGRIP1L-∆Ex6 mutant protein exhibited relatively reduced ciliary localization in transiently-transfected cultured RPE-1 cells. Taken together, this study identifies a novel RPGRIP1L variant RPGRIP1L-∆Ex6, which in combination with RPGRIP1L-R1236C is associated with MKS. We also suggest that the deletion of exon 6 of RPGRIP1L leads to reduced ciliary localization of RPGRIP1L, indicating a plausible mechanism of associated disease." @default.
- W4292493023 created "2022-08-21" @default.
- W4292493023 creator A5003355317 @default.
- W4292493023 creator A5034375421 @default.
- W4292493023 creator A5046621954 @default.
- W4292493023 creator A5071651582 @default.
- W4292493023 creator A5072611182 @default.
- W4292493023 creator A5082996732 @default.
- W4292493023 date "2022-08-19" @default.
- W4292493023 modified "2023-10-01" @default.
- W4292493023 title "Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome" @default.
- W4292493023 cites W1509735672 @default.
- W4292493023 cites W1965235603 @default.
- W4292493023 cites W2010384718 @default.
- W4292493023 cites W2015234820 @default.
- W4292493023 cites W2016334332 @default.
- W4292493023 cites W2018003091 @default.
- W4292493023 cites W2050281909 @default.
- W4292493023 cites W2054818877 @default.
- W4292493023 cites W2064966510 @default.
- W4292493023 cites W2085156646 @default.
- W4292493023 cites W2111777428 @default.
- W4292493023 cites W2119987653 @default.
- W4292493023 cites W2120185413 @default.
- W4292493023 cites W2127360608 @default.
- W4292493023 cites W2135410469 @default.
- W4292493023 cites W2167610910 @default.
- W4292493023 cites W2167914935 @default.
- W4292493023 cites W2168056473 @default.
- W4292493023 cites W2224345684 @default.
- W4292493023 cites W2299076631 @default.
- W4292493023 cites W2734511810 @default.
- W4292493023 cites W2734540391 @default.
- W4292493023 cites W2890212290 @default.
- W4292493023 cites W2959270799 @default.
- W4292493023 cites W3093247492 @default.
- W4292493023 cites W3114616535 @default.
- W4292493023 cites W3115128751 @default.
- W4292493023 cites W3133430347 @default.
- W4292493023 cites W4220687307 @default.
- W4292493023 cites W4220786258 @default.
- W4292493023 cites W4246217303 @default.
- W4292493023 doi "https://doi.org/10.3389/fgene.2022.982127" @default.
- W4292493023 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36061204" @default.
- W4292493023 hasPublicationYear "2022" @default.
- W4292493023 type Work @default.
- W4292493023 citedByCount "1" @default.
- W4292493023 countsByYear W42924930232023 @default.
- W4292493023 crossrefType "journal-article" @default.
- W4292493023 hasAuthorship W4292493023A5003355317 @default.
- W4292493023 hasAuthorship W4292493023A5034375421 @default.
- W4292493023 hasAuthorship W4292493023A5046621954 @default.
- W4292493023 hasAuthorship W4292493023A5071651582 @default.
- W4292493023 hasAuthorship W4292493023A5072611182 @default.
- W4292493023 hasAuthorship W4292493023A5082996732 @default.
- W4292493023 hasBestOaLocation W42924930231 @default.
- W4292493023 hasConcept C100094513 @default.
- W4292493023 hasConcept C104317684 @default.
- W4292493023 hasConcept C126322002 @default.
- W4292493023 hasConcept C127716648 @default.
- W4292493023 hasConcept C134018914 @default.
- W4292493023 hasConcept C2778215940 @default.
- W4292493023 hasConcept C2910395002 @default.
- W4292493023 hasConcept C501734568 @default.
- W4292493023 hasConcept C54355233 @default.
- W4292493023 hasConcept C71924100 @default.
- W4292493023 hasConcept C86803240 @default.
- W4292493023 hasConceptScore W4292493023C100094513 @default.
- W4292493023 hasConceptScore W4292493023C104317684 @default.
- W4292493023 hasConceptScore W4292493023C126322002 @default.
- W4292493023 hasConceptScore W4292493023C127716648 @default.
- W4292493023 hasConceptScore W4292493023C134018914 @default.
- W4292493023 hasConceptScore W4292493023C2778215940 @default.
- W4292493023 hasConceptScore W4292493023C2910395002 @default.
- W4292493023 hasConceptScore W4292493023C501734568 @default.
- W4292493023 hasConceptScore W4292493023C54355233 @default.
- W4292493023 hasConceptScore W4292493023C71924100 @default.
- W4292493023 hasConceptScore W4292493023C86803240 @default.
- W4292493023 hasFunder F4320337350 @default.
- W4292493023 hasLocation W42924930231 @default.
- W4292493023 hasLocation W42924930232 @default.
- W4292493023 hasLocation W42924930233 @default.
- W4292493023 hasOpenAccess W4292493023 @default.
- W4292493023 hasPrimaryLocation W42924930231 @default.
- W4292493023 hasRelatedWork W1978385700 @default.
- W4292493023 hasRelatedWork W1980461176 @default.
- W4292493023 hasRelatedWork W2044232534 @default.
- W4292493023 hasRelatedWork W2153076523 @default.
- W4292493023 hasRelatedWork W2414310962 @default.
- W4292493023 hasRelatedWork W3194558223 @default.
- W4292493023 hasRelatedWork W3212442294 @default.
- W4292493023 hasRelatedWork W3216027753 @default.
- W4292493023 hasRelatedWork W4240911512 @default.
- W4292493023 hasRelatedWork W4245140877 @default.
- W4292493023 hasVolume "13" @default.
- W4292493023 isParatext "false" @default.
- W4292493023 isRetracted "false" @default.
- W4292493023 workType "article" @default.