Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Item
http://www.wikidata.org/entity/Q29147566
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3De Novo Mutations in EBF3 Cause a Neurodevelopmental SyndromeNovel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Genomic diagnosis for children with intellectual disability and/or developmental delayLessons learned from additional research analyses of unsolved clinical exome cases.Genetic Approaches to Understanding Psychiatric Disease.Building dialogues between clinical and biomedical research through cross-species collaborations.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease.Zfp423/ZNF423 regulates cell cycle progression, the mode of cell division and the DNA-damage response in Purkinje neuron progenitors.Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.Stem cell niche-specific Ebf3 maintains the bone marrow cavity.Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability.De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
P2860

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Item
http://www.wikidata.org/entity/Q29147566
description
2017 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2017
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im Januar 2017 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2017/01/05)
@nl
наукова стаття, опублікована в січні 2017
@uk
مقالة علمية (نشرت في 5-1-2017)
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name
Mutations in EBF3 Disturb Tran ...... Ataxia, and Facial Dysmorphism
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Mutations in EBF3 Disturb Tran ...... Ataxia, and Facial Dysmorphism
@en
type
label
Mutations in EBF3 Disturb Tran ...... Ataxia, and Facial Dysmorphism
@ast
Mutations in EBF3 Disturb Tran ...... Ataxia, and Facial Dysmorphism
@en
prefLabel
Mutations in EBF3 Disturb Tran ...... Ataxia, and Facial Dysmorphism
@ast
Mutations in EBF3 Disturb Tran ...... Ataxia, and Facial Dysmorphism
@en
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P1476
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P2860
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P1476
Mutations in EBF3 Disturb Tran ...... Ataxia, and Facial Dysmorphism
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P2093
P2860
P304
P31
P356
10.1016/J.AJHG.2016.11.012
P407
P433
P478
P50
P577
P698
P921
P932