De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy (Q57930135)

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26 March 2020

title

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy (English)

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26 March 2020

16

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26 March 2020

Mariko Taniguchi-Ikeda

5

object named as

Mariko Taniguchi-Ikeda

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26 March 2020

author name string

Hazrat Belal

1

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26 March 2020

Mitsuko Nakashima

2

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26 March 2020

Hiroshi Matsumoto

3

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26 March 2020

Kenji Yokochi

4

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26 March 2020

Kazushi Aoto

6

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26 March 2020

Mohammed Badrul Amin

7

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26 March 2020

Azusa Maruyama

8

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26 March 2020

Hiroaki Nagase

9

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26 March 2020

Takeshi Mizuguchi

10

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26 March 2020

Satoko Miyatake

11

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26 March 2020

Noriko Miyake

12

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26 March 2020

Kazumoto Iijima

13

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26 March 2020

Shigeaki Nonoyama

14

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26 March 2020

Naomichi Matsumoto

15

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26 March 2020

language of work or name

English

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publication date

25 May 2018

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26 March 2020

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26 March 2020

volume

39

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26 March 2020

issue

8

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26 March 2020

page(s)

1070-1075

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De novo mutations in epileptic encephalopathies

26 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Characterization of RhoBTB-dependent Cul3 ubiquitin ligase complexes--evidence for an autoregulatory mechanism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Rho GTPases of the RhoBTB subfamily and tumorigenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

DBC2/RhoBTB2 functions as a tumor suppressor protein via Musashi-2 ubiquitination in breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

RhoBTB2 (DBC2) is a mitotic E2F1 target gene with a novel role in apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

DBC2, a candidate for a tumor suppressor gene involved in breast cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Contribution of apoptosis-associated signaling pathways to epileptogenesis: lessons from Bcl-2 family knockouts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

RhoBTB2 (DBC2) functions as tumor suppressor via inhibiting proliferation, preventing colony formation and inducing apoptosis in breast cancer cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Epileptic encephalopathies: new genes and new pathways

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Bim, Bad, and Bax: a deadly combination in epileptic seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

MUF1/leucine-rich repeat containing 41 (LRRC41), a substrate of RhoBTB-dependent cullin 3 ubiquitin ligase complexes, is a predominantly nuclear dimeric protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

DBC2 significantly influences cell-cycle, apoptosis, cytoskeleton and membrane-trafficking pathways

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

High expression during neurogenesis but not mammogenesis of a murine homologue of the Deleted in Breast Cancer2/Rhobtb2 tumor suppressor.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

RhoBTB2 is a substrate of the mammalian Cul3 ubiquitin ligase complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23550

7 January 2021

Identifiers

DOI

10.1002/HUMU.23550

1 reference

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26 March 2020

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