Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W., … Tan, T. Y. (2022). Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. The American Journal of Human Genetics, 109(4), 601–617. https://doi.org/10.1016/j.ajhg.2022.03.002
Authors:
Sarah Stephenson
Gregory Costain
Laura E.R. Blok
Michael Silk
Thanh Nguyen
Xiaomin Dong
Dana E. Alhuzaimi
James J. Dowling
Susan Walker
Kimberly Amburgey
Robin Z. Hayeems
Lance H. Rodan
Marc A. Schwartz
Jonathan Picker
Sally Ann Lynch
Aditi Gupta
Kristen Rasmussen
Lisa A. Schimmenti
Eric W. Klee
Zhiyv Niu
Katherine Agre
Ilana Chilton
Wendy K. Chung
Anya Revah‐Politi
Ping Yee Billie Au
Christopher Griffith
Melissa Racobaldo
Annick Raas‐Rothschild
Bruria Ben Zeev
Ortal Barel
Sébastien Moutton
Fanny Morice‐Picard
Virginie Carmignac
Jenny Cornaton
Nathalie Marle
Orrin Devinsky
Chandler L. Stimach
Stephanie Burns Wechsler
Bryan E. Hainline
Katie Sapp
Marjolaine Willems
Ange‐Line Bruel
Kerith‐Rae Dias
Carey‐Anne Evans
Tony Roscioli
Rani Sachdev
Suzanna E.L. Temple
Ying Zhu
Joshua Baker
Ingrid E. Scheffer
Fiona Gardiner
Amy L. Schneider
Alison M. Muir
Heather C Mefford
Amy Crunk
Elizabeth M. Heise
Francisca Millan
Kristin G. Monaghan
Richard Person
Lindsay Rhodes
Sarah Richards
Ingrid M. Wentzensen
Benjamin Cogné
Bertrand Isidor
Mathilde Nizon
Marie Vincent
Thomas Besnard
Amélie Piton
Carlo Marcelis
Kohji Kato
Norihisa Koyama
Tomoo Ogi
Elaine Goh
Christopher M. Richmond
David J. Amor
Jessica O. Boyce
Angela Morgan
Michael S. Hildebrand
Antony Kaspi
Melanie Bahlo
Rún Friðriksdóttir
Hildigunnur Katrínardóttir
Patrick Sulem
Kāri Stefánsson
Hans T. Björnsson
Simone Mandelstam
Manuela Morleo
Milena Mariani
Marcello Scala
Andrea Accogli
Annalaura Torella
Valeria Capra
Mathew Wallis
Sandra Jansen
Quinten Waisfisz
Hugoline G. de Haan
Simon Sadedin
Sze Chern Lim
Susan M. White
David B. Ascher
Affiliated Authors:
Ilana Chilton
Wendy K. Chung
Anya Revah‐Politi
Columbia Affiliation:
Subjects:
F-Box-WD Repeat-Containing Protein 7 (MeSH)
Neurodevelopmental Disorders (MeSH)
Ubiquitination (MeSH)
Genomic Rearrangements and Copy Number Variations (OpenAlex Topic)
Molecular Basis of Rett Syndrome and Related Disorders (OpenAlex Topic)
Ubiquitin-Proteasome Proteolytic Pathway (OpenAlex Topic)
Author Keywords:
brain malformation
epilepsy
f-box protein
fbxw7
gastrointestinal issues
global developmental delay
hypotonia
intellectual disability
macrocephaly
neurodevelopment
elink
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2022.03.002
PMID:
35395208
DOI:
10.1016/j.ajhg.2022.03.002
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: