Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders-Reference-Cited by-同舟云学术

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Published:2023-08 Issue:8 Volume:25 Page:100885
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Langhammer Franziska,Maroofian Reza,Badar Rueda,Gregor Anne,Rochman Michelle,Ratliff Jeffrey B.,Koopmans Marije,Herget Theresia,Hempel Maja,Kortüm Fanny,Heron Delphine,Mignot Cyril,Keren Boris,Brooks Susan,Botti Christina,Ben-Zeev Bruria,Argilli Emanuela,Sherr Elliot H.,Gowda Vykuntaraju K.,Srinivasan Varunvenkat M.,Bakhtiari Somayeh,Kruer Michael C.,Salih Mustafa A.,Kuechler Alma,Muller Eric A.,Blocker Karli,Kuismin Outi,Park Kristen L.,Kochhar Aaina,Brown Kathleen,Ramanathan Subhadra,Clark Robin D.,Elgizouli Magdeldin,Melikishvili Gia,Tabatadze Nazhi,Stark Zornitza,Mirzaa Ghayda M.,Ong Jinfon,Grasshoff Ute,Bevot Andrea,von Wintzingerode Lydia,Jamra Rami A.,Hennig Yvonne,Goldenberg Paula,Al Alam Chadi,Charif Majida,Boulouiz Redouane,Bellaoui Mohammed,Amrani Rim,Al Mutairi Fuad,Tamim Abdullah M.,Abdulwahab Firdous,Alkuraya Fowzan S.,Khouj Ebtissal M.,Alvi Javeria R.,Sultan Tipu,Hashemi Narges,Karimiani Ehsan G.,Ashrafzadeh Farah,Imannezhad Shima,Efthymiou Stephanie,Houlden Henry,Sticht Heinrich,Zweier Christiane^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference37 articles.

1. Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila;Straub;Am J Hum Genet,2018

2. RhoBTB2 is a substrate of the mammalian Cul3 ubiquitin ligase complex;Wilkins;Genes Dev,2004

3. DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer;Choi;Oncogene,2017

4. RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood;Zagaglia;Neurology,2021

5. De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy;Belal;Hum Mutat,2018

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