BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
about
Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium.Emerging cellular and gene therapies for congenital anemias.Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutationsHeterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.Recent progress in understanding and manipulating haemoglobin switching for the haemoglobinopathies.Probing the interaction between the histone methyltransferase/deacetylase subunit RBBP4/7 and the transcription factor BCL11A in epigenetic complexes.Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch.BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.Functional characterization of TBR1 variants in neurodevelopmental disorderDisruption of the BCL11A Erythroid Enhancer Reactivates Fetal Hemoglobin in Erythroid Cells of Patients with β-Thalassemia Major
P2860
Q33906995-5CCCF682-E6F3-48A1-90AA-C8A8C5905FE9Q37660905-D7C6BA38-4AA0-4483-BC4D-600B1B289DB5Q38993825-E84BA598-38B9-432E-A415-ABD3F0E72CBCQ42381246-E895E926-B85E-4399-8A84-46BE10948C8AQ42428363-0C875D77-A1EE-44E0-81C7-FDF5BDD32AE9Q45875308-81C8B1C8-CFD9-430D-AA2C-61AD4CF0F52DQ47269581-AAFC8332-A6DA-423A-8F12-FED5994B2A67Q48315981-565D8B18-D288-44B4-A528-F7BF7D785CB8Q52092801-53400022-295F-4E9E-B63A-A51938A60EE6Q52690497-93E2B06C-7895-4439-B87C-328AA5BDE0AAQ54070526-D3717590-047D-413B-85EB-CDA1F744C499Q58700685-232E5C63-59DB-4B93-B6B4-42CA90EC19CEQ58780160-548FEEE3-6A80-4C0E-8873-3E0CEB3A941D
P2860
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 19 July 2016
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
BCL11A Haploinsufficiency Caus ...... nd Dysregulates Transcription.
@en
BCL11A Haploinsufficiency Caus ...... nd Dysregulates Transcription.
@nl
type
label
BCL11A Haploinsufficiency Caus ...... nd Dysregulates Transcription.
@en
BCL11A Haploinsufficiency Caus ...... nd Dysregulates Transcription.
@nl
prefLabel
BCL11A Haploinsufficiency Caus ...... nd Dysregulates Transcription.
@en
BCL11A Haploinsufficiency Caus ...... nd Dysregulates Transcription.
@nl
P2093
P2860
P50
P1476
BCL11A Haploinsufficiency Caus ...... nd Dysregulates Transcription.
@en
P2093
Claire Turner
Gabriela Sánchez-Andrade
Jane A Hurst
Jenny E V Morton
Jeremy McRae
Julien Thevenon
Kelly Mellul
Laurence Faivre
Mathew E Hurles
P2860
P304
P356
10.1016/J.AJHG.2016.05.030
P407
P577
2016-07-19T00:00:00Z