DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

Lessel, I., Baresic, A., Chinn, I. K., May, J., Goenka, A., Chandler, K. E., Posey, J. E., Afenjar, A., Averdunk, L., Bedeschi, M. F., Besnard, T., Brager, R., Brick, L., Brugger, M., Brunet, T., Byrne, S., Calle-Martín, O. de la, Capra, V., Cardenas, P., … Lessel, D. (2025). DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2024.12.012
Authors:
Ivana Lessel
Anja Barešić
Iván K. Chinn
Jonathan May
Anu Goenka
Kate Chandler
Jennifer E. Posey
Alexandra Afenjar
Luisa Averdunk
Maria Francesca Bedeschi
Thomas Besnard
Rae Brager
Lauren Brick
Melanie Brugger
Theresa Brunet
Susan Byrne
Oscar De La Calle-Martin
Valeria Capra
Paúl Cárdenas
Céline Chappé
Hey Chong
Benjamin Cogné
Erin Conboy
Heidi Cope
Thomas Courtin
Wallid Deb
Robertino Dilena
Christèle Dubourg
Magdeldin Elgizouli
Erica Fernandes
Kristi K. Fitzgerald
Silvana Gangi
Jaya K. George‐Abraham
Müge Güçsavaş‐Çalıkoğlu
Tobias B. Haack
Medard Hadonou
Britta Hanker
Irina Hüning
Maria Iascone
Bertrand Isidor
Irma Järvelä
Jay Jin
Alexander A.L. Jorge
Dragana Josifova
Ruta Kalinauskiene
Erik-Jan Kamsteeg
Boris Keren
E Kessler
Heike Kölbel
Mariya Kozenko
Christian Kubisch
Alma Kuechler
Suzanne M. Leal
Juha Leppälä
Sharon Luu
Gholson J. Lyon
Suneeta Madan-Khetarpal
Maria Margherita Mancardi
Elaine Marchi
Lakshmi Mehta
Beatriz Menéndez
Chantal F. Morel
Sue Moyer Harasink
Dayna‐Lynn Nevay
Vincenzo Nigro
Sylvie Odent
Renske Oegema
John Pappas
Matthew Pastore
Yezmin Perilla-Young
Konrad Platzer
Nina Powell‐Hamilton
Rachel Rabin
Aisha Rekab
Raíssa Rezende
Leema Robert
Ferruccio Romano
Marcello Scala
Karin Poths
Isabelle Schrauwen
Jessica Sebastian
John Short
Richard Sidlow
Jennifer L. Sullivan
Katalin Szakszon
Queenie K.‐G. Tan
Matias Wagner
Dagmar Wieczorek
Bo Yuan
Nicole Maeding
Dirk Strunk
Amber Begtrup
Siddharth Banka
James R. Lupski
Eva Tolosa
Davor Lessel
Affiliated Authors:
Suzanne M. Leal
Lakshmi Mehta
Aisha Rekab
Columbia Affiliation:
Subjects:
DNA-Binding Proteins (MeSH)
Phenotype (MeSH)
Developmental Disabilities (MeSH)
Tumor Suppressor Proteins (MeSH)
Genetic Basis of Primary Immunodeficiency Disorders (OpenAlex Topic)
Ribosome Structure and Translation Mechanisms (OpenAlex Topic)
Integrin Signaling in Inflammation and Cancer (OpenAlex Topic)
Author Keywords:
bcl11b
c2h2-type zinc finger protein
genotype-phenotype correlation
recognition code
type 2 innate lymphoid cells
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2024.12.012
PMID:
39798569
DOI:
10.1016/j.ajhg.2024.12.012
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
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Record Created: