PMID 28589569 2018 Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
PMID 27453576 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
PMID 25979662 2016 Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 25938782 2015 BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
PMID 15548577 2004 The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 20623620 2010 X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.
PMID 22491945 2012 Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development.
PMID 23230003 2012 Bcl11a is essential for lymphoid development and negatively regulates p53.
PMID 12717432 2003 Bcl11a is essential for normal lymphoid development.
PMID 17021036 2006 COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.
PMID 17964244 2007 Area patterning of the mammalian cortex.
PMID 26182416 2015 Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.
PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.
PMID 19616629 2009 Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth.
PMID 16704730 2006 Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells.
PMID 11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PMID 24810580 2014 De novo microdeletion of BCL11A is associated with severe speech sound disorder.
PMID 10744719 2000 Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors.
PMID 12196208 2002 COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein.
PMID 11161790 2000 Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells.
rs1553352926 in
BCL11A gene and
Muscle hypotonia
PMID 25938782 2015 BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.
PMID 26182416 2015 Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 25979662 2016 Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 27453576 2016 BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.
PMID 28960836 2018 BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.
PMID 22491945 2012 Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development.
PMID 28589569 2018 Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.
PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.
PMID 23230003 2012 Bcl11a is essential for lymphoid development and negatively regulates p53.
PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.
PMID 24810580 2014 De novo microdeletion of BCL11A is associated with severe speech sound disorder.
PMID 16704730 2006 Functional studies of BCL11A: characterization of the conserved BCL11A-XL splice variant and its interaction with BCL6 in nuclear paraspeckles of germinal center B cells.
PMID 17964244 2007 Area patterning of the mammalian cortex.
PMID 11347906 2001 Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
PMID 10744719 2000 Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors.
PMID 19616629 2009 Bcl11A/CTIP1 regulates expression of DCC and MAP1b in control of axon branching and dendrite outgrowth.
PMID 20623620 2010 X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth.
PMID 11161790 2000 Human EVI9, a homologue of the mouse myeloid leukemia gene, is expressed in the hematopoietic progenitors and down-regulated during myeloid differentiation of HL60 cells.
PMID 17021036 2006 COUP-TFI is required for the formation of commissural projections in the forebrain by regulating axonal growth.
PMID 12196208 2002 COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein.
PMID 15548577 2004 The COUP-TF nuclear receptors regulate cell migration in the mammalian basal forebrain.
PMID 12717432 2003 Bcl11a is essential for normal lymphoid development.
PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.