Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sheppard, S. E., Bryant, L., Wickramasekara, R. N., Vaccaro, C., Robertson, B., Hallgren, J., Hulen, J., Watson, C. J., Faundes, V., Duffourd, Y., Lee, P., Simon, M. C., de la Cruz, X., Padilla, N., Flores-Mendez, M., Akizu, N., Smiler, J., Pellegrino Da Silva, R., Li, D., … Stessman, H. A. F. (2023). Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances, 9(10). https://doi.org/10.1126/sciadv.ade1463
Authors:
Sarah E. Sheppard
Laura Bryant
Rochelle N. Wickramasekara
Courtney Vaccaro
Brynn Robertson
Jodi Hallgren
Jason Hulen
Cynthia J. Watson
Víctor Faùndes
Yannis Duffourd
Pearl Lee
M. Celeste Simon
Xavier de la Cruz
Natàlia Padilla
Marco Flores‐Méndez
Naiara Akizu
Jacqueline Smiler
Renata Pellegrino da Silva
Dong Li
Michael March
Abdias Diaz‐Rosado
Isabella Peixoto de Barcelos
Zhao Xiang Choa
Chin Yan Lim
Christèle Dubourg
Hubert Journel
Florence Démurger
Maureen Mulhern
Cigdem I. Akman
Natalie Lippa
Marisa V. Andrews
Dustin Baldridge
John N. Constantino
Arie van Haeringen
Irina Snoeck-Streef
Penny Chow
Anne Hing
John M. Graham
Margaret Au
Laurence Faivre
Wei Shen
Rong Mao
Janice C. Palumbos
David Viskochil
William A. Gahl
Cynthia J. Tifft
Ellen F. Macnamara
Natalie Hauser
Rebecca L. Miller
Jessica Maffeo
Alexandra Afenjar
Diane Doummar
Boris Keren
Pamela Arn
Sarah Macklin
Ilse Meerschaut
Bert Callewaert
André Reis
Christiane Zweier
Carole Brewer
Anand Saggar
Marie Falkenberg Smeland
Ajith Kumar
Frances Elmslie
Charu Deshpande
Mathilde Nizon
Benjamin Cogné
Yvette van Ierland
Martina Wilke
Marjon van Slegtenhorst
Suzanne Koudijs
Jin Yun Chen
David Dredge
Danielle B. Pier
Saskia B. Wortmann
Erik‐Jan Kamsteeg
Johannes Koch
Devon Haynes
Lynda Pollack
Hannah Titheradge
Kara Ranguin
Anne‐Sophie Denommé‐Pichon
Sacha Weber
Rubén Pérez de la Fuente
Jaime Sánchez del Pozo
José Miguel Lezana Rosales
Pascal Joset
Katharina Steindl
Anita Rauch
Davide Mei
Francesco Muntoni
Renzo Guerrini
James Lespinasse
Frédéric Tran Mau‐Them
Christophe Philippe
Benjamin Dauriat
Laure Raymond
Sébastien Moutton
Anna M. Cueto‐González
Tiong Yang Tan
Affiliated Authors:
Maureen Mulhern
Cigdem I. Akman
Natalie Lippa
Columbia Affiliation:
Subjects:
Megalencephaly (MeSH)
Neurodevelopmental Disorders (MeSH)
Histone Methyltransferases (MeSH)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Regulation of Chromatin Structure and Function (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
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Publication Type:
Article
Unique ID:
10.1126/sciadv.ade1463
PMID:
36897941
DOI:
10.1126/sciadv.ade1463
Journal:
Science Advances
Publication Date:
Data Source:
OpenAlex
Source Link:
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