Associated Papers
A novel heterozygous mutation of BCL11B gene causes neurodevelopmental disorder and middle type hypospadias in a Chinese boy with 5 years follow-up.
Liu Y et al.
Neurogenetics, 2026
Multimeric transcription factor BCL11A utilizes two zinc-finger tandem arrays to bind clustered short sequence motifs.
Horton JR et al.
Nature Communications, 2025
BCL11B-related disease: a single phenotypic entity?
Vedovato-Dos-Santos JH et al.
European Journal of Human Genetics : Ejhg, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I et al.
American Journal of Human Genetics, 2025
A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development.
Okuyama K et al.
Nature Immunology, 2024
Inborn errors of immunity caused by dominant negative interference by a BCL11B variant.
Unknown Author
Nature Immunology, 2024
[BCL11B associated disorder a case report in Mexican population. Case report].
Crisanto-López IE et al.
Revista Medica Del Instituto Mexicano Del Seguro Social, 2024
Pivotal role of BCL11B in the immune, hematopoietic and nervous systems: a review of the BCL11B-associated phenotypes from the genetic perspective.
García-Aznar JM et al.
Genes and Immunity, 2024
The Role of Bcl11 Transcription Factors in Neurodevelopmental Disorders.
Seigfried FA et al.
Biology, 2024
The function of BCL11B in base excision repair contributes to its dual role as an oncogene and a haplo-insufficient tumor suppressor gene.
Vickridge E et al.
Nucleic Acids Research, 2024
A Bcl11bN797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice.
Matsumoto K et al.
Frontiers in Immunology, 2024
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Pande S et al.
American Journal of Medical Genetics. Part A, 2023
The Majority of the Serine/Threonine Phosphorylation Sites in Bcl11b Protein Are Dispensable for the Differentiation of T Cells.
Okuyama K et al.
Journal of Immunology (baltimore, Md. : 1950), 2023
A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.
Yu Y et al.
Molecular Genetics & Genomic Medicine, 2023
Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.
Eto K et al.
Human Genome Variation, 2022
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder.
Alfei E et al.
Neuropediatrics, 2022
Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay.
Zhao X et al.
Frontiers in Pediatrics, 2022
Unveiling the N-Terminal Homodimerization of BCL11B by Hybrid Solvent Replica-Exchange Simulations.
Schulig L et al.
International Journal of Molecular Sciences, 2021
Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?
Gaillard L et al.
Frontiers in Pediatrics, 2021
Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities.
Yang S et al.
Frontiers in Pediatrics, 2020
A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.
Qiao F et al.
Molecular Genetics & Genomic Medicine, 2019
A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis.
Goos JAC et al.
Human Molecular Genetics, 2019
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Lessel D et al.
Brain : a Journal of Neurology, 2018
The N-Terminal CCHC Zinc Finger Motif Mediates Homodimerization of Transcription Factor BCL11B.
Grabarczyk P et al.
Molecular and Cellular Biology, 2018
Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.
Punwani D et al.
The New England Journal of Medicine, 2016