FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2000990600> ?p ?o ?g. }

• W2000990600 endingPage "37" @default.
• W2000990600 startingPage "37e" @default.
• W2000990600 abstract "Editor—Wolfram syndrome (OMIM 222300) is a progressive neurodegenerative disorder characterised by the association of juvenile, non-autoimmune, insulin dependent diabetes mellitus and optic atrophy. The physician D J Wolfram, who reported four cases in 1938, is credited with the first description.1 With the identification of other clinical features, Wolfram syndrome was also referred to as DIDMOAD syndrome (diabetesinsipidus, diabetes mellitus,optic atrophy and deafness). The initial manifestation of Wolfram syndrome is typically, but not invariably, insulin deficient diabetes mellitus at a median age of 6 years, followed by optic atrophy at 11 years.2 In the second decade, many patients develop central diabetes insipidus and sensorineural deafness. Additional, but less frequent neurological and endocrinological abnormalities are atonic bladder, ataxia, myoclonus, peripheral neuropathy, hypogonadism, and a relatively high incidence of depression and psychotic behaviour.3-5 Death occurs between 25 and 49 years (median 30 years).The prevalence of Wolfram syndrome was estimated at 1/100 000 in a North American population and 1/770 000 in the United Kingdom.2 6 Family studies indicate autosomal recessive inheritance.Genetic linkage analysis has localised Wolfram syndrome to the short arm of chromosome 4 (4p16),7 8 and the primary genetic defect of the syndrome was attributed to the WFS1 gene, which consists of eight exons encoding a 890 amino acid polypeptide with an apparent molecular weight of 100 kDa.9 10 Hydrophobicity analysis suggested a transmembrane protein comprising three structural domains: a hydrophilic amino terminus separated from a hydrophilic carboxy-terminal tail by a hydrophobic region containing nine predicted transmembrane segments. Homologous genes in Mus musculus , Rattus norvegicus , and Drosophila melanogaster have been described (GenBank AF084482/AJ011971, AF136378; FlyBase FBgn0039003).The majority of patients with Wolfram syndrome carry loss of function mutations …" @default.
• W2000990600 created "2016-06-24" @default.
• W2000990600 creator A5083774905 @default.
• W2000990600 date "2001-11-01" @default.
• W2000990600 modified "2023-10-16" @default.
• W2000990600 title "Wolfram syndrome: a clinical and molecular genetic analysis" @default.
• W2000990600 cites W1488045365 @default.
• W2000990600 cites W1594371892 @default.
• W2000990600 cites W1599357356 @default.
• W2000990600 cites W1765552403 @default.
• W2000990600 cites W1966173885 @default.
• W2000990600 cites W1975301556 @default.
• W2000990600 cites W1977709398 @default.
• W2000990600 cites W1979970299 @default.
• W2000990600 cites W1985648546 @default.
• W2000990600 cites W1995643581 @default.
• W2000990600 cites W2004518960 @default.
• W2000990600 cites W2009105413 @default.
• W2000990600 cites W2020221290 @default.
• W2000990600 cites W2025416258 @default.
• W2000990600 cites W2026918461 @default.
• W2000990600 cites W2030455977 @default.
• W2000990600 cites W2045348184 @default.
• W2000990600 cites W2049103927 @default.
• W2000990600 cites W2057326116 @default.
• W2000990600 cites W2078312727 @default.
• W2000990600 cites W2088169265 @default.
• W2000990600 cites W2089640650 @default.
• W2000990600 cites W2090477878 @default.
• W2000990600 cites W2094177935 @default.
• W2000990600 cites W2099907055 @default.
• W2000990600 cites W2101667248 @default.
• W2000990600 cites W2154128645 @default.
• W2000990600 cites W2157496522 @default.
• W2000990600 cites W2163793704 @default.
• W2000990600 cites W2266428010 @default.
• W2000990600 cites W2334721897 @default.
• W2000990600 cites W2400085368 @default.
• W2000990600 cites W1994750562 @default.
• W2000990600 doi "https://doi.org/10.1136/jmg.38.11.e37" @default.
• W2000990600 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1734757" @default.
• W2000990600 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11694551" @default.
• W2000990600 hasPublicationYear "2001" @default.
• W2000990600 type Work @default.
• W2000990600 sameAs 2000990600 @default.
• W2000990600 citedByCount "21" @default.
• W2000990600 countsByYear W20009906002012 @default.
• W2000990600 countsByYear W20009906002013 @default.
• W2000990600 countsByYear W20009906002015 @default.
• W2000990600 countsByYear W20009906002021 @default.
• W2000990600 countsByYear W20009906002022 @default.
• W2000990600 crossrefType "journal-article" @default.
• W2000990600 hasAuthorship W2000990600A5083774905 @default.
• W2000990600 hasBestOaLocation W20009906001 @default.
• W2000990600 hasConcept C54355233 @default.
• W2000990600 hasConcept C60644358 @default.
• W2000990600 hasConcept C70721500 @default.
• W2000990600 hasConcept C71924100 @default.
• W2000990600 hasConcept C86803240 @default.
• W2000990600 hasConceptScore W2000990600C54355233 @default.
• W2000990600 hasConceptScore W2000990600C60644358 @default.
• W2000990600 hasConceptScore W2000990600C70721500 @default.
• W2000990600 hasConceptScore W2000990600C71924100 @default.
• W2000990600 hasConceptScore W2000990600C86803240 @default.
• W2000990600 hasIssue "11" @default.
• W2000990600 hasLocation W20009906001 @default.
• W2000990600 hasLocation W20009906002 @default.
• W2000990600 hasLocation W20009906003 @default.
• W2000990600 hasLocation W20009906004 @default.
• W2000990600 hasLocation W20009906005 @default.
• W2000990600 hasOpenAccess W2000990600 @default.
• W2000990600 hasPrimaryLocation W20009906001 @default.
• W2000990600 hasRelatedWork W1828691184 @default.
• W2000990600 hasRelatedWork W1903732681 @default.
• W2000990600 hasRelatedWork W1991523530 @default.
• W2000990600 hasRelatedWork W2002128513 @default.
• W2000990600 hasRelatedWork W2020824267 @default.
• W2000990600 hasRelatedWork W2031436818 @default.
• W2000990600 hasRelatedWork W2057739827 @default.
• W2000990600 hasRelatedWork W2075354549 @default.
• W2000990600 hasRelatedWork W2119103177 @default.
• W2000990600 hasRelatedWork W2092874662 @default.
• W2000990600 hasVolume "38" @default.
• W2000990600 isParatext "false" @default.
• W2000990600 isRetracted "false" @default.
• W2000990600 magId "2000990600" @default.
• W2000990600 workType "article" @default.