[PDF][PDF] Jane A. Hurst, 5 Shelagh K. Joss, 6 Susan E. Holder, 7 Jenny EV Morton, 8 Claire Turner, 9 Julien Thevenon, 10, 11 Kelly Mellul, 12 Gabriela Sánchez-Andrade …

C Dias, SB Estruch, SA Graham, J McRae, SJ Sawiak - 2016 - researchgate.net
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity.
Next-generation sequencing of large cohorts has identified an increasing number of genes …

BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription

C Dias, SB Estruch, SA Graham, J McRae… - The American Journal of …, 2016 - cell.com
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity.
Next-generation sequencing of large cohorts has identified an increasing number of genes …

[PDF][PDF] King's Research Portal

C Dias, SB Estruch, SA Graham, J McRae, SJ Sawiak… - kclpure.kcl.ac.uk
Intellectual disability (ID) is a common condition with considerable genetic heterogeneity.
Next-generation sequencing of large cohorts has identified an increasing number of genes …

The Role of Bcl11 Transcription Factors in Neurodevelopmental Disorders

FA Seigfried, S Britsch - Biology, 2024 - mdpi.com
Simple Summary Neurodevelopmental disorders are typically attributed to abnormal brain
development. These disorders encompass a wide range of neuropsychiatric symptoms that …

De novo BCL11A variants in neurodevelopmental disorder disrupt multiple aspects of protein function

SB Estruch, SA Graham, P Derizioti… - the American Society for …, 2015 - pure.mpg.de
Abstract The rare chromosome 2p16. 1-p15 deletion syndrome (MIM 612513) is
characterized by intellectual disability, dysmorphic features and microcephaly. A high …

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

C Dias - 2021 - kclpure.kcl.ac.uk
Purpose Heterozygous variants in BCL11A underlie an intellectual developmental disorder
with persistence of fetal hemoglobin (BCL11A-IDD, aka Dias-Logan syndrome). We sought …

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

A Peron, F D'Arco, KA Aldinger, C Smith-Hicks… - medRxiv, 2021 - medrxiv.org
Purpose Heterozygous variants in BCL11A underlie an intellectual developmental disorder
with persistence of fetal hemoglobin (BCL11A-IDD, aka Dias-Logan syndrome). We sought …

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

D Lessel, C Gehbauer, NC Bramswig… - Brain, 2018 - academic.oup.com
The transcription factor BCL11B is essential for development of the nervous and the immune
system, and Bcl11b deficiency results in structural brain defects, reduced learning capacity …

Bcl11b—a critical neurodevelopmental transcription factor—roles in health and disease

MJ Lennon, SP Jones, MD Lovelace… - Frontiers in cellular …, 2017 - frontiersin.org
B cell leukemia 11b (Bcl11b) is a zinc finger protein transcription factor with a multiplicity of
functions. It works as both a genetic suppressor and activator, acting directly, attaching to …

A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report

Y Yu, X Jia, H Yin, H Jiang, Y Du… - … Genetics & Genomic …, 2023 - Wiley Online Library
Abstract Background B‐Cell CLL/Lymphoma 11B (BCL11B) is a C2H2 zinc finger
transcription factor that has broad biological functions and is essential for the development …