FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2103638516> ?p ?o ?g. }

• W2103638516 endingPage "194" @default.
• W2103638516 startingPage "186" @default.
• W2103638516 abstract "Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The association of retinal dystrophy and renal anomalies defines JS type B. JS is a genetically heterogeneous condition with mutations in two genes, AHI1 and CEP290, identified to date. In addition, NPHP1 deletions identical to those that cause juvenile nephronophthisis have been identified in a subset of patients with a mild form of cerebellar and brainstem anomaly. Occipital encephalocele and/or polydactyly have occasionally been reported in some patients with JS, and these phenotypic features can also be observed in Meckel-Gruber syndrome (MKS). MKS is a rare, autosomal recessive lethal condition characterized by central nervous system malformations (typically, occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia, and ductal proliferation in the portal area of the liver. Since there is obvious phenotypic overlap between JS and MKS, we hypothesized that mutations in the recently identified MKS genes, MKS1 on chromosome 17q and MKS3 on 8q, may be a cause of JS. After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). No MKS1 mutations were identified in this series, suggesting that the allelism is restricted to MKS3." @default.
• W2103638516 created "2016-06-24" @default.
• W2103638516 creator A5000103412 @default.
• W2103638516 creator A5001445148 @default.
• W2103638516 creator A5008639087 @default.
• W2103638516 creator A5012885963 @default.
• W2103638516 creator A5014560661 @default.
• W2103638516 creator A5024331920 @default.
• W2103638516 creator A5029002217 @default.
• W2103638516 creator A5029343002 @default.
• W2103638516 creator A5029478797 @default.
• W2103638516 creator A5033253597 @default.
• W2103638516 creator A5033406221 @default.
• W2103638516 creator A5041068877 @default.
• W2103638516 creator A5043784804 @default.
• W2103638516 creator A5045427122 @default.
• W2103638516 creator A5047685808 @default.
• W2103638516 creator A5057568492 @default.
• W2103638516 creator A5063903632 @default.
• W2103638516 creator A5067853725 @default.
• W2103638516 creator A5069071961 @default.
• W2103638516 creator A5081327741 @default.
• W2103638516 creator A5083667497 @default.
• W2103638516 date "2007-01-01" @default.
• W2103638516 modified "2023-10-18" @default.
• W2103638516 title "The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome" @default.
• W2103638516 cites W1965213934 @default.
• W2103638516 cites W1965611772 @default.
• W2103638516 cites W1966166788 @default.
• W2103638516 cites W1970464851 @default.
• W2103638516 cites W1971462660 @default.
• W2103638516 cites W1990146876 @default.
• W2103638516 cites W1994353334 @default.
• W2103638516 cites W1996445467 @default.
• W2103638516 cites W1998083408 @default.
• W2103638516 cites W2004945792 @default.
• W2103638516 cites W2006944088 @default.
• W2103638516 cites W2016559364 @default.
• W2103638516 cites W2019185665 @default.
• W2103638516 cites W2028651090 @default.
• W2103638516 cites W2033375640 @default.
• W2103638516 cites W2034315688 @default.
• W2103638516 cites W2038208381 @default.
• W2103638516 cites W2044348197 @default.
• W2103638516 cites W2048039808 @default.
• W2103638516 cites W2049335442 @default.
• W2103638516 cites W2058919179 @default.
• W2103638516 cites W2061750372 @default.
• W2103638516 cites W2063348376 @default.
• W2103638516 cites W2064207737 @default.
• W2103638516 cites W2066041050 @default.
• W2103638516 cites W2066903680 @default.
• W2103638516 cites W2087204112 @default.
• W2103638516 cites W2089114529 @default.
• W2103638516 cites W2090914486 @default.
• W2103638516 cites W2091684557 @default.
• W2103638516 cites W2094704328 @default.
• W2103638516 cites W2099292214 @default.
• W2103638516 cites W2104444309 @default.
• W2103638516 cites W2106538986 @default.
• W2103638516 cites W2106793249 @default.
• W2103638516 cites W2109372707 @default.
• W2103638516 cites W2110283302 @default.
• W2103638516 cites W2125636494 @default.
• W2103638516 cites W2125641223 @default.
• W2103638516 cites W2127352376 @default.
• W2103638516 cites W2135979384 @default.
• W2103638516 cites W2139913482 @default.
• W2103638516 cites W2148827282 @default.
• W2103638516 cites W2152007993 @default.
• W2103638516 cites W2156190275 @default.
• W2103638516 cites W2163527762 @default.
• W2103638516 cites W2166217974 @default.
• W2103638516 cites W2168757773 @default.
• W2103638516 cites W2169489543 @default.
• W2103638516 cites W2171130544 @default.
• W2103638516 cites W2171691658 @default.
• W2103638516 cites W2413795299 @default.
• W2103638516 cites W2468916412 @default.
• W2103638516 cites W2417443831 @default.
• W2103638516 doi "https://doi.org/10.1086/510499" @default.
• W2103638516 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1785313" @default.
• W2103638516 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17160906" @default.
• W2103638516 hasPublicationYear "2007" @default.
• W2103638516 type Work @default.
• W2103638516 sameAs 2103638516 @default.
• W2103638516 citedByCount "215" @default.
• W2103638516 countsByYear W21036385162012 @default.
• W2103638516 countsByYear W21036385162013 @default.
• W2103638516 countsByYear W21036385162014 @default.
• W2103638516 countsByYear W21036385162015 @default.
• W2103638516 countsByYear W21036385162016 @default.
• W2103638516 countsByYear W21036385162017 @default.
• W2103638516 countsByYear W21036385162018 @default.
• W2103638516 countsByYear W21036385162019 @default.
• W2103638516 countsByYear W21036385162020 @default.
• W2103638516 countsByYear W21036385162021 @default.
• W2103638516 countsByYear W21036385162022 @default.

• next