Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

dc.contributor.authorMorgan, Neil V.
dc.contributor.authorMorris, Mark R.
dc.contributor.authorGleeson, Diane
dc.contributor.authorStraatman-Iwanowska, Anna A.
dc.contributor.authorDavies, Nicholas James
dc.contributor.authorKeenan, Stephen J.
dc.contributor.authorPasha, Shanaz S.
dc.contributor.authorRahman, Fatimah
dc.contributor.authorGentle, Dean C.
dc.contributor.authorVreeswijk, Maaike P.G.
dc.contributor.authorDevilee, Peter
dc.contributor.authorKnowles, Margaret A.
dc.contributor.authorCeylaner, Serdar
dc.contributor.authorTrembath, Richard C.
dc.contributor.authorDalence, Carlos
dc.contributor.authorKısmet, Erol
dc.contributor.authorKöseoğlu, Vedat
dc.contributor.authorRossbach, Hans Christoph
dc.contributor.authorGissen, Paul
dc.contributor.authorTannahill, David
dc.contributor.authorMäher, Eamonn Richard
dc.contributor.buuauthorCangül, Hakan
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.tr_TR
dc.contributor.scopusid8911611600tr_TR
dc.date.accessioned2022-09-07T10:19:42Z
dc.date.available2022-09-07T10:19:42Z
dc.date.issued2010-02
dc.description.abstractThe histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)). To elucidate the molecular basis of FHC, we performed autozygosity mapping studies in a large consanguineous family and identified a novel locus at chromosome 10q22.1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD. Analysis of SLC29A3 expression during mouse embryogenesis revealed widespread expression by e14.5 with prominent expression in the central nervous system, eye, inner ear, and epithelial tissues including the gastrointestinal tract. SLC29A3 encodes an intracellular equilibrative nucleoside transporter (hENT3) with affinity for adenosine. Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder.en_US
dc.description.sponsorshipWellChilden_US
dc.description.sponsorshipWellcome Trust European Commissionen_US
dc.description.sponsorshipCancer Research UKen_US
dc.description.sponsorshipEuropean Molecular Biology Organization (EMBO) (ASTF 121.00-2007)en_US
dc.description.sponsorshipEuropean Commissionen_US
dc.description.sponsorshipNational Institute for Health Research (NIHR) (NF-SI-0507-10379)en_US
dc.identifier.citationMorgan, N. V. vd. (2010). "Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease". PLoS Genetics, 6(2).en_US
dc.identifier.issn1553-7404
dc.identifier.issue2tr_TR
dc.identifier.pubmed20140240tr_TR
dc.identifier.scopus2-s2.0-77649196563tr_TR
dc.identifier.urihttps://doi.org/10.1371/journal.pgen.1000833
dc.identifier.urihttps://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000833
dc.identifier.urihttp://hdl.handle.net/11452/28527
dc.identifier.volume6tr_TR
dc.identifier.wos000275262700029tr_TR
dc.indexed.pubmedPubMeden_US
dc.indexed.scopusScopusen_US
dc.indexed.wosSCIEen_US
dc.language.isoenen_US
dc.publisherPublic Library Scienceen_US
dc.relation.collaborationYurt içitr_TR
dc.relation.collaborationYurt dışıtr_TR
dc.relation.collaborationSanayitr_TR
dc.relation.journalPLoS Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergitr_TR
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAdenosineen_US
dc.subjectLymphadenopathyen_US
dc.subjectApoptosisen_US
dc.subjectGrowthen_US
dc.subjectCellsen_US
dc.subjectGeneen_US
dc.subjectGenetics & heredityen_US
dc.subject.emtreeAdenosineen_US
dc.subject.emtreeCarrier proteins and binding proteinsen_US
dc.subject.emtreeEquilibrative nucleoside transporteren_US
dc.subject.emtreeEquilibrative nucleoside transporter 3en_US
dc.subject.emtreeProtein slc29a3en_US
dc.subject.emtreeSmall interfering RNAen_US
dc.subject.emtreeUnclassified drugen_US
dc.subject.emtreeENT3 proteinen_US
dc.subject.emtreeMouseen_US
dc.subject.emtreeNucleoside transporteren_US
dc.subject.emtreeSLC29A3 proteinen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeAnimal tissueen_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeAutosomal recessive inheritanceen_US
dc.subject.emtreeBladder canceren_US
dc.subject.emtreeBreast canceren_US
dc.subject.emtreeCancer cell cultureen_US
dc.subject.emtreeCell proliferationen_US
dc.subject.emtreeCell strain HEK293en_US
dc.subject.emtreeChromosome 10qen_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeClinical featureen_US
dc.subject.emtreeConsanguinityen_US
dc.subject.emtreeControlled studyen_US
dc.subject.emtreeEmbryoen_US
dc.subject.emtreeEmbryo developmenten_US
dc.subject.emtreeFaisalabad histiocytosisen_US
dc.subject.emtreeGene expressionen_US
dc.subject.emtreeGene locusen_US
dc.subject.emtreeGene mappingen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeHeLa cellen_US
dc.subject.emtreeHistiocytosisen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreeHuman cellen_US
dc.subject.emtreeMouseen_US
dc.subject.emtreeMutational analysisen_US
dc.subject.emtreeNonhumanen_US
dc.subject.emtreeNucleotide sequenceen_US
dc.subject.emtreePathogenesisen_US
dc.subject.emtreePhenotypeen_US
dc.subject.emtreeProtein protein interactionen_US
dc.subject.emtreeRosai Dorfman diseaseen_US
dc.subject.emtreeAlleleen_US
dc.subject.emtreeAnimalen_US
dc.subject.emtreeAnimal embryoen_US
dc.subject.emtreeBladder tumoren_US
dc.subject.emtreeBreast tumoren_US
dc.subject.emtreeChromosome 10en_US
dc.subject.emtreeChromosome mapen_US
dc.subject.emtreeClonogenic assayen_US
dc.subject.emtreeFamilyen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGene expression regulationen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeMetabolismen_US
dc.subject.emtreeMolecular geneticsen_US
dc.subject.emtreeMutationen_US
dc.subject.emtreePathologyen_US
dc.subject.emtreeSinus histiocytosisen_US
dc.subject.emtreeSyndromeen_US
dc.subject.emtreeTumor cell lineen_US
dc.subject.meshAllelesen_US
dc.subject.meshAnimalsen_US
dc.subject.meshBase sequenceen_US
dc.subject.meshBreast neoplasmsen_US
dc.subject.meshCell line, tumoren_US
dc.subject.meshCell proliferationen_US
dc.subject.meshChromosomes, human, pair 10en_US
dc.subject.meshColony-forming units assayen_US
dc.subject.meshDNA mutational analysisen_US
dc.subject.meshEmbryo, mammalianen_US
dc.subject.meshFamilyen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene expression regulationen_US
dc.subject.meshGenetic locien_US
dc.subject.meshHistiocytosis, sinusen_US
dc.subject.meshHumansen_US
dc.subject.meshMiceen_US
dc.subject.meshMolecular sequence dataen_US
dc.subject.meshMutationen_US
dc.subject.meshNucleoside transport proteinsen_US
dc.subject.meshPhysical chromosome mappingen_US
dc.subject.meshRNA, small interferingen_US
dc.subject.meshSyndromeen_US
dc.subject.meshUrinary bladder neoplasmsen_US
dc.subject.scopusSinus Histiocytosis; Hypertrichosis; Emperipolesisen_US
dc.subject.wosGenetics & heredityen_US
dc.titleMutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman diseaseen_US
dc.typeArticle
dc.wos.quartileQ1tr_TR

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