Matches in SemOpenAlex for { <https://semopenalex.org/work/W2017349612> ?p ?o ?g. }
Showing items 1 to 90 of
90
with 100 items per page.
- W2017349612 endingPage "461" @default.
- W2017349612 startingPage "456" @default.
- W2017349612 abstract "Meckel-Gruber syndrome (MKS), the most common monogenic cause of neural tube defects, is an autosomal recessive disorder characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (typically encephalcoele), hepatic ductal dysplasia and cysts, and polydactyly. Locus heterogeneity has been demonstrated by the mapping of the MKS1 locus to 17q21-24 in Finnish kindreds, and of MKS2 to 11q13 in North African-Middle Eastern cohorts. In the present study, we have investigated the genetic basis of MKS in eight consanguineous kindreds, originating from the Indian sub-continent, that do not show linkage to either MKS1 or MKS2. We report the localisation of a third MKS locus (MKS3) to chromosome 8q24 in this cohort by a genome-wide linkage search using autozygosity mapping. We identified a 26-cM region of autozygosity between D8S586 and D8S1108 with a maximum cumulative two-point LOD score at D8S1179 (Z max=3.04 at θ=0.06). A heterogeneity test provided evidence of one unlinked family. Exclusion of this family from multipoint analysis maximised the cumulative multipoint LOD score at locus D8S1128 (Z max=5.65). Furthermore, a heterozygous SNP in DDEF1, a putative candidate gene, suggested that MKS3 mapped within a 15-cM interval. Comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2-linked kindreds suggests that polydactyly (and possibly encephalocele) appear less common in MKS3-linked families. Electronic Supplementary Material is available if you access this article at http://dx.doi.org/10.1007/s00439-002-0817-0. On that page (frame on the left side), a link takes you directly to the supplementary material." @default.
- W2017349612 created "2016-06-24" @default.
- W2017349612 creator A5001823258 @default.
- W2017349612 creator A5006606679 @default.
- W2017349612 creator A5008174068 @default.
- W2017349612 creator A5012260453 @default.
- W2017349612 creator A5015267871 @default.
- W2017349612 creator A5018184156 @default.
- W2017349612 creator A5040640947 @default.
- W2017349612 creator A5044873369 @default.
- W2017349612 creator A5052055685 @default.
- W2017349612 creator A5056552109 @default.
- W2017349612 creator A5067622500 @default.
- W2017349612 creator A5085511830 @default.
- W2017349612 creator A5090532039 @default.
- W2017349612 date "2002-10-01" @default.
- W2017349612 modified "2023-10-11" @default.
- W2017349612 title "A novel locus for Meckel-Gruber syndrome, MKS3 , maps to chromosome 8q24" @default.
- W2017349612 doi "https://doi.org/10.1007/s00439-002-0817-0" @default.
- W2017349612 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12384791" @default.
- W2017349612 hasPublicationYear "2002" @default.
- W2017349612 type Work @default.
- W2017349612 sameAs 2017349612 @default.
- W2017349612 citedByCount "54" @default.
- W2017349612 countsByYear W20173496122012 @default.
- W2017349612 countsByYear W20173496122013 @default.
- W2017349612 countsByYear W20173496122014 @default.
- W2017349612 countsByYear W20173496122015 @default.
- W2017349612 countsByYear W20173496122016 @default.
- W2017349612 countsByYear W20173496122017 @default.
- W2017349612 crossrefType "journal-article" @default.
- W2017349612 hasAuthorship W2017349612A5001823258 @default.
- W2017349612 hasAuthorship W2017349612A5006606679 @default.
- W2017349612 hasAuthorship W2017349612A5008174068 @default.
- W2017349612 hasAuthorship W2017349612A5012260453 @default.
- W2017349612 hasAuthorship W2017349612A5015267871 @default.
- W2017349612 hasAuthorship W2017349612A5018184156 @default.
- W2017349612 hasAuthorship W2017349612A5040640947 @default.
- W2017349612 hasAuthorship W2017349612A5044873369 @default.
- W2017349612 hasAuthorship W2017349612A5052055685 @default.
- W2017349612 hasAuthorship W2017349612A5056552109 @default.
- W2017349612 hasAuthorship W2017349612A5067622500 @default.
- W2017349612 hasAuthorship W2017349612A5085511830 @default.
- W2017349612 hasAuthorship W2017349612A5090532039 @default.
- W2017349612 hasBestOaLocation W20173496122 @default.
- W2017349612 hasConcept C104317684 @default.
- W2017349612 hasConcept C122735190 @default.
- W2017349612 hasConcept C127716648 @default.
- W2017349612 hasConcept C142870003 @default.
- W2017349612 hasConcept C2777267824 @default.
- W2017349612 hasConcept C30481170 @default.
- W2017349612 hasConcept C54355233 @default.
- W2017349612 hasConcept C64618202 @default.
- W2017349612 hasConcept C69991583 @default.
- W2017349612 hasConcept C84597430 @default.
- W2017349612 hasConcept C86803240 @default.
- W2017349612 hasConceptScore W2017349612C104317684 @default.
- W2017349612 hasConceptScore W2017349612C122735190 @default.
- W2017349612 hasConceptScore W2017349612C127716648 @default.
- W2017349612 hasConceptScore W2017349612C142870003 @default.
- W2017349612 hasConceptScore W2017349612C2777267824 @default.
- W2017349612 hasConceptScore W2017349612C30481170 @default.
- W2017349612 hasConceptScore W2017349612C54355233 @default.
- W2017349612 hasConceptScore W2017349612C64618202 @default.
- W2017349612 hasConceptScore W2017349612C69991583 @default.
- W2017349612 hasConceptScore W2017349612C84597430 @default.
- W2017349612 hasConceptScore W2017349612C86803240 @default.
- W2017349612 hasIssue "4-5" @default.
- W2017349612 hasLocation W20173496121 @default.
- W2017349612 hasLocation W20173496122 @default.
- W2017349612 hasLocation W20173496123 @default.
- W2017349612 hasOpenAccess W2017349612 @default.
- W2017349612 hasPrimaryLocation W20173496121 @default.
- W2017349612 hasRelatedWork W1531474743 @default.
- W2017349612 hasRelatedWork W189423584 @default.
- W2017349612 hasRelatedWork W2004423704 @default.
- W2017349612 hasRelatedWork W2073706152 @default.
- W2017349612 hasRelatedWork W2121213128 @default.
- W2017349612 hasRelatedWork W2146685311 @default.
- W2017349612 hasRelatedWork W2157542836 @default.
- W2017349612 hasRelatedWork W2158988043 @default.
- W2017349612 hasRelatedWork W2562166923 @default.
- W2017349612 hasRelatedWork W925171775 @default.
- W2017349612 hasVolume "111" @default.
- W2017349612 isParatext "false" @default.
- W2017349612 isRetracted "false" @default.
- W2017349612 magId "2017349612" @default.
- W2017349612 workType "article" @default.