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dc.creatorO’Rawe, Jason A. 
dc.creatorWu, Yiyang 
dc.creatorDörfel, Max J. 
dc.creatorRope, Alan F. 
dc.creatorBillie Au, P.Y. 
dc.creatorParboosingh, Jillian S. 
dc.creatorMoon, Sungjin 
dc.creatorKousi, Maria 
dc.creatorKosma, Konstantina 
dc.creatorSmith, Christopher S. 
dc.creatorTzeti, Maria 
dc.creatorSchuette, Jane L. 
dc.creatorHufnagel, Robert B. 
dc.creatorPrada, Carlos E. 
dc.creatorMartinez, Francisco 
dc.creatorOrellana, Carmen 
dc.creatorCrain, Jonathan 
dc.creatorCaro-Llopis, Alfonso 
dc.creatorOltra, Silvestre 
dc.creatorMonfort, Sandra 
dc.creatorJiménez-Barrón, Laura T. 
dc.creatorSwensen, Jeffrey 
dc.creatorEllingwood, Sara 
dc.creatorSmith, Rosemarie 
dc.creatorFang, Han 
dc.creatorOspina, Sandra 
dc.creatorStegmann, Sander 
dc.creatorDen Hollander, Nicolette 
dc.creatorMittelman, David 
dc.creatorHighnam, Gareth 
dc.creatorRobison, Reid 
dc.creatorYang, Edward 
dc.creatorFaivre, Laurence 
dc.creatorRoubertie, Agathe 
dc.creatorRivière, Jean-Baptiste 
dc.creatorMonaghan, Kristin G. 
dc.creatorWang, Kai 
dc.creatorDavis, Erica E. 
dc.creatorKatsanis, Nicholas 
dc.creatorKalscheuer, Vera M. 
dc.creatorWang, Edith H. 
dc.creatorMetcalfe, Kay 
dc.creatorKleefstra, Tjitske 
dc.creatorInnes, A. Micheil 
dc.creatorKitsiou-Tzeli, Sophia 
dc.creatorRosello, Monica 
dc.creatorKeegan, Catherine E. 
dc.creatorLyon, Gholson J. 
dc.date.accessioned2019-02-05T20:34:39Z
dc.date.available2019-02-05T20:34:39Z
dc.date.created2015
dc.date.issued2015 
dc.identifier.issnISSN 0002-9297
dc.identifier.urihttp://repository.urosario.edu.co/handle/10336/19015
dc.descriptionWe describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using diverse strategies led to the identification of nine families with overlapping clinical presentations and affected by de novo or maternally inherited single-nucleotide changes. Two additional families harboring large duplications involving TAF1 were also found to share phenotypic overlap with the probands harboring single-nucleotide changes, but they also demonstrated a severe neurodegeneration phenotype. Functional analysis with RNA-seq for one of the families suggested that the phenotype is associated with downregulation of a set of genes notably enriched with genes regulated by E-box proteins. In addition, knockdown and mutant studies of this gene in zebrafish have shown a quantifiable, albeit small, effect on a neuronal phenotype. Our results suggest that mutations in TAF1 play a critical role in the development of this X-linked ID syndrome. © 2015 The Authors.
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.relation.ispartofAmerican Journal of Human Genetics, ISSN: 0002-9297, Vol. 97/No. 6 (2015) pp. 922-932
dc.relation.urihttps://ac.els-cdn.com/S0002929715004504/1-s2.0-S0002929715004504-main.pdf?_tid=5b81e5b3-8175-4e61-9046-ef9e81f33065&acdnat=1540041607_a8daa5e1a307e37d73448c9def7f796f
dc.rights.uri
dc.subjectAbnormal Gait
dc.subjectDevelopmental Delay
dc.subjectDystonia
dc.subjectFacial Dysmorphology
dc.subjectIntellectual Disability
dc.subjectIntergluteal Crease
dc.subjectNeurologic Features
dc.subjectTaf1
dc.subjectTranscription
dc.subject.ddcGinecología & otras especialidades médicas 
dc.subject.lembEnfermedades genéticas en los niños
dc.subject.lembAnormalidades de los cromosomas sexuales en niños
dc.titleTAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations
dc.typearticle
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.subject.decsE Box Protein
dc.subject.decsProtein
dc.subject.decsTata Binding Protein Associated Factor
dc.subject.decsTranscription Factor
dc.subject.decsUnclassified Drug
dc.subject.decsHistone Acetyltransferase
dc.subject.decsTata Binding Protein Associated Factor
dc.subject.decsTata-Binding Protein Associated Factor 25 Kda
dc.subject.decsTranscription Factor Iid
dc.subject.decsAdolescent
dc.subject.decsArticle
dc.subject.decsChild
dc.subject.decsClinical Article
dc.subject.decsClinical Assessment
dc.subject.decsClinical Evaluation
dc.subject.decsClinical Feature
dc.subject.decsDevelopmental Disorder
dc.subject.decsDown Regulation
dc.subject.decsFace Dysmorphia
dc.subject.decsFamily Assessment
dc.subject.decsGene Duplication
dc.subject.decsGene Mutation
dc.subject.decsGenetic Association
dc.subject.decsGenetic Disorder
dc.subject.decsGenetic Screening
dc.subject.decsHuman
dc.subject.decsIntellectual Impairment
dc.subject.decsMale
dc.subject.decsMuscle Hypotonia
dc.subject.decsNerve Degeneration
dc.subject.decsNeurologic Disease
dc.subject.decsPhenotypic Variation
dc.subject.decsPreschool Child
dc.subject.decsPriority Journal
dc.subject.decsRecessive Inheritance
dc.subject.decsRna Sequence
dc.subject.decsSchool Child
dc.subject.decsSingle Nucleotide Polymorphism
dc.subject.decsZebra Fish
dc.subject.decsAnimal
dc.subject.decsDegenerative Disease
dc.subject.decsDisease Model
dc.subject.decsE Box Element
dc.subject.decsFacies
dc.subject.decsFamily
dc.subject.decsGene Expression Regulation
dc.subject.decsGenetics
dc.subject.decsInfant
dc.subject.decsInheritance
dc.subject.decsIntellectual Impairment
dc.subject.decsMetabolism
dc.subject.decsMutation
dc.subject.decsPathology
dc.subject.decsPedigree
dc.subject.decsPhenotype
dc.subject.decsSignal Transduction
dc.subject.decsYoung Adult
dc.subject.decsAdolescent
dc.subject.decsAnimals
dc.subject.decsChild
dc.subject.decsChild, Preschool
dc.subject.decsDevelopmental Disabilities
dc.subject.decsDisease Models, Animal
dc.subject.decsE-Box Elements
dc.subject.decsFacies
dc.subject.decsFamily
dc.subject.decsGene Expression Regulation
dc.subject.decsHistone Acetyltransferases
dc.subject.decsHumans
dc.subject.decsInfant
dc.subject.decsInheritance Patterns
dc.subject.decsIntellectual Disability
dc.subject.decsMale
dc.subject.decsMutation
dc.subject.decsNeurodegenerative Diseases
dc.subject.decsPedigree
dc.subject.decsPhenotype
dc.subject.decsSignal Transduction
dc.subject.decsTata-Binding Protein Associated Factors
dc.subject.decsTranscription Factor Tfiid
dc.subject.decsYoung Adult
dc.subject.decsZebrafish
dc.type.spaArtículo
dc.rights.accesoAbierto (Texto Completo)
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.source.bibliographicCitationPapai, G., Weil, P.A., Schultz, P., New insights into the function of transcription factor TFIID from recent structural studies (2011) Curr. Opin. Genet. Dev., 21, pp. 219-224
dc.rights.cchttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.creator.googleO’Rawe, Jason A.
dc.creator.googleWu, Yiyang
dc.creator.googleDörfel, Max J.
dc.creator.googleRope, Alan F.
dc.creator.googleBillie Au, P.Y.
dc.creator.googleParboosingh, Jillian S.
dc.creator.googleMoon, Sungjin
dc.creator.googleKousi, Maria
dc.creator.googleKosma, Konstantina
dc.creator.googleSmith, Christopher S.
dc.creator.googleTzeti, Maria
dc.creator.googleSchuette, Jane L.
dc.creator.googleHufnagel, Robert B.
dc.creator.googlePrada, Carlos E.
dc.creator.googleMartinez, Francisco
dc.creator.googleOrellana, Carmen
dc.creator.googleCrain, Jonathan
dc.creator.googleCaro-Llopis, Alfonso
dc.creator.googleOltra, Silvestre
dc.creator.googleMonfort, Sandra
dc.creator.googleJiménez-Barrón, Laura T.
dc.creator.googleSwensen, Jeffrey
dc.creator.googleEllingwood, Sara
dc.creator.googleSmith, Rosemarie
dc.creator.googleFang, Han
dc.creator.googleOspina, Sandra
dc.creator.googleStegmann, Sander
dc.creator.googleDen Hollander, Nicolette
dc.creator.googleMittelman, David
dc.creator.googleHighnam, Gareth
dc.creator.googleRobison, Reid
dc.creator.googleYang, Edward
dc.creator.googleFaivre, Laurence
dc.creator.googleRoubertie, Agathe
dc.creator.googleRivière, Jean-Baptiste
dc.creator.googleMonaghan, Kristin G.
dc.creator.googleWang, Kai
dc.creator.googleDavis, Erica E.
dc.creator.googleKatsanis, Nicholas
dc.creator.googleKalscheuer, Vera M.
dc.creator.googleWang, Edith H.
dc.creator.googleMetcalfe, Kay
dc.creator.googleKleefstra, Tjitske
dc.creator.googleInnes, A. Micheil
dc.creator.googleKitsiou-Tzeli, Sophia
dc.creator.googleRosello, Monica
dc.creator.googleKeegan, Catherine E.
dc.creator.googleLyon, Gholson J.


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