FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2156880972> ?p ?o ?g. }

• W2156880972 endingPage "517" @default.
• W2156880972 startingPage "512" @default.
• W2156880972 abstract "<h3>Background</h3> Overgrowth conditions are a heterogeneous group of disorders characterised by increased growth and variable features, including macrocephaly, distinctive facial appearance and various degrees of learning difficulties and intellectual disability. Among them, Sotos and Weaver syndromes are clinically well defined and due to heterozygous mutations in <i>NSD1</i> and <i>EZH2</i>, respectively. NSD1 and EZH2 are both histone-modifying enzymes. These two epigenetic writers catalyse two specific post-translational modifications of histones: methylation of histone 3 lysine 36 (H3K36) and lysine 27 (H3K27). We postulated that mutations in writers of these two chromatin marks could cause overgrowth conditions, resembling Sotos or Weaver syndromes, in patients with no <i>NSD1</i> or <i>EZH2</i> abnormalities. <h3>Methods</h3> We analysed the coding sequences of 14 H3K27 methylation-related genes and eight H3K36 methylation-related genes using a targeted next-generation sequencing approach in three Sotos, 11 ‘Sotos-like’ and two Weaver syndrome patients. <h3>Results</h3> We identified two heterozygous mutations in the <i>SETD2</i> gene in two patients with ‘Sotos-like’ syndrome: one missense p.Leu1815Trp de novo mutation in a boy and one nonsense p.Gln274* mutation in an adopted girl. SETD2 is non-redundantly responsible for H3K36 trimethylation. The two probands shared similar clinical features, including postnatal overgrowth, macrocephaly, obesity, speech delay and advanced carpal ossification. <h3>Conclusions</h3> Our results illustrate the power of targeted next-generation sequencing to identify rare disease-causing variants. We provide a compelling argument for Sotos and Sotos-like syndromes as epigenetic diseases caused by loss-of-function mutations of epigenetic writers of the H3K36 histone mark." @default.
• W2156880972 created "2016-06-24" @default.
• W2156880972 creator A5001767521 @default.
• W2156880972 creator A5006851189 @default.
• W2156880972 creator A5019693710 @default.
• W2156880972 creator A5023003876 @default.
• W2156880972 creator A5034065592 @default.
• W2156880972 creator A5034826227 @default.
• W2156880972 creator A5048050147 @default.
• W2156880972 creator A5051255390 @default.
• W2156880972 creator A5070627273 @default.
• W2156880972 creator A5078687855 @default.
• W2156880972 creator A5081642866 @default.
• W2156880972 date "2014-05-22" @default.
• W2156880972 modified "2023-10-14" @default.
• W2156880972 title "Mutations in<i>SETD2</i>cause a novel overgrowth condition" @default.
• W2156880972 cites W1900190441 @default.
• W2156880972 cites W1917476040 @default.
• W2156880972 cites W1969451832 @default.
• W2156880972 cites W1973166877 @default.
• W2156880972 cites W1981615602 @default.
• W2156880972 cites W1990278907 @default.
• W2156880972 cites W1999491723 @default.
• W2156880972 cites W2006382721 @default.
• W2156880972 cites W2008809596 @default.
• W2156880972 cites W2009858080 @default.
• W2156880972 cites W2015416439 @default.
• W2156880972 cites W2017840637 @default.
• W2156880972 cites W2019363373 @default.
• W2156880972 cites W2038120157 @default.
• W2156880972 cites W2043267753 @default.
• W2156880972 cites W2043714662 @default.
• W2156880972 cites W2048222359 @default.
• W2156880972 cites W2060608189 @default.
• W2156880972 cites W2064412682 @default.
• W2156880972 cites W2071480068 @default.
• W2156880972 cites W2076333986 @default.
• W2156880972 cites W2089407047 @default.
• W2156880972 cites W2089924497 @default.
• W2156880972 cites W2091605994 @default.
• W2156880972 cites W2096083625 @default.
• W2156880972 cites W2106417221 @default.
• W2156880972 cites W2109389832 @default.
• W2156880972 cites W2117902955 @default.
• W2156880972 cites W2120394942 @default.
• W2156880972 cites W2122732537 @default.
• W2156880972 cites W2130109827 @default.
• W2156880972 cites W2138170649 @default.
• W2156880972 cites W2149993601 @default.
• W2156880972 cites W2152856096 @default.
• W2156880972 cites W2158674200 @default.
• W2156880972 cites W2164004777 @default.
• W2156880972 cites W2166164324 @default.
• W2156880972 cites W2167852161 @default.
• W2156880972 cites W2339000908 @default.
• W2156880972 cites W3189377945 @default.
• W2156880972 doi "https://doi.org/10.1136/jmedgenet-2014-102402" @default.
• W2156880972 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24852293" @default.
• W2156880972 hasPublicationYear "2014" @default.
• W2156880972 type Work @default.
• W2156880972 sameAs 2156880972 @default.
• W2156880972 citedByCount "88" @default.
• W2156880972 countsByYear W21568809722015 @default.
• W2156880972 countsByYear W21568809722016 @default.
• W2156880972 countsByYear W21568809722017 @default.
• W2156880972 countsByYear W21568809722018 @default.
• W2156880972 countsByYear W21568809722019 @default.
• W2156880972 countsByYear W21568809722020 @default.
• W2156880972 countsByYear W21568809722021 @default.
• W2156880972 countsByYear W21568809722022 @default.
• W2156880972 countsByYear W21568809722023 @default.
• W2156880972 crossrefType "journal-article" @default.
• W2156880972 hasAuthorship W2156880972A5001767521 @default.
• W2156880972 hasAuthorship W2156880972A5006851189 @default.
• W2156880972 hasAuthorship W2156880972A5019693710 @default.
• W2156880972 hasAuthorship W2156880972A5023003876 @default.
• W2156880972 hasAuthorship W2156880972A5034065592 @default.
• W2156880972 hasAuthorship W2156880972A5034826227 @default.
• W2156880972 hasAuthorship W2156880972A5048050147 @default.
• W2156880972 hasAuthorship W2156880972A5051255390 @default.
• W2156880972 hasAuthorship W2156880972A5070627273 @default.
• W2156880972 hasAuthorship W2156880972A5078687855 @default.
• W2156880972 hasAuthorship W2156880972A5081642866 @default.
• W2156880972 hasConcept C104317684 @default.
• W2156880972 hasConcept C2776745794 @default.
• W2156880972 hasConcept C2780502008 @default.
• W2156880972 hasConcept C2781083543 @default.
• W2156880972 hasConcept C41091548 @default.
• W2156880972 hasConcept C50171091 @default.
• W2156880972 hasConcept C501734568 @default.
• W2156880972 hasConcept C54355233 @default.
• W2156880972 hasConcept C86803240 @default.
• W2156880972 hasConceptScore W2156880972C104317684 @default.
• W2156880972 hasConceptScore W2156880972C2776745794 @default.
• W2156880972 hasConceptScore W2156880972C2780502008 @default.
• W2156880972 hasConceptScore W2156880972C2781083543 @default.
• W2156880972 hasConceptScore W2156880972C41091548 @default.
• W2156880972 hasConceptScore W2156880972C50171091 @default.

• next