Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

单倍率不足机制（生物学）生物遗传学表型神经科学计算生物学医学基因认识论哲学

作者

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 K. Macklin‐Mantia,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 Mari,Renzo Guerrini,James Lespinasse,Frédéric Tran Mau‐Them,Christophe Philippe,Benjamin Dauriat,Laure Raymond,Sébastien Moutton,Anna M. Cueto‐González,Tiong Yang Tan,Cyril Mignot,Sarah Grotto,Florence Renaldo,Theodore G. Drivas,Laura Hennessy,Anna Raper,Ilaria Parenti,Frank J. Kaiser,Alma Kuechler,Øyvind L. Busk,Lily Islam,Jacob A. Siedlik,Lindsay B. Henderson,Jane Juusola,Richard Person,Rhonda E. Schnur,Antonio Vitobello,Siddharth Banka,Elizabeth Bhoj,Holly A.F. Stessman

出处

期刊：Science Advances [American Association for the Advancement of Science]
日期：2023-03-10 卷期号：9 (10) 被引量：6

链接

doi.org hal.science hal.science europepmc.org europepmc.org hal.science eur.nl eur.nl eur.nl ru.nl ru.nl ru.nl uzh.ch unibe.ch unibe.ch ac.be nih.gov ac.uk ac.uk nih.govdoi.org

标识

DOI：10.1126/sciadv.ade1463

摘要

Pathogenic variants in

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

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