An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. (Q30448340)

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8 February 2020

title

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity (English)

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1 reference

12

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3

Patrick Tarpey

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author name string

Kyoko Takano

1

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8 February 2020

Dan Liu

2

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Esther Gallant

4

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Alex Lam

5

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Shawn Witham

6

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8 February 2020

Emil Alexov

7

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Alka Chaubey

8

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Roger E Stevenson

9

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Charles E Schwartz

10

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Philip G Board

11

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publication date

19 July 2012

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8 February 2020

published in

Human Molecular Genetics

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volume

21

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8 February 2020

issue

20

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8 February 2020

page(s)

4497-4507

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Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

8 February 2020

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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26 November 2018

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The structure of the C-terminal helical bundle in glutathione transferase M2-2 determines its ability to inhibit the cardiac ryanodine receptor

26 November 2018

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26 November 2018

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26 November 2018

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Redox potential and the response of cardiac ryanodine receptors to CLIC-2, a member of the glutathione S-transferase structural family

26 November 2018

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Muscle-specific GSTM2-2 on the luminal side of the sarcoplasmic reticulum modifies RyR ion channel activity.

26 November 2018

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26 November 2018

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Two-dimensional crystallization of the ryanodine receptor Ca2 release channel on lipid membranes

26 November 2018

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X-linked mental retardation

26 November 2018

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26 November 2018

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Nonspecific X-linked mental retardation II: the frequency in British Columbia

26 November 2018

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Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22814392

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Multiple types of ryanodine receptor/Ca2 release channels are differentially expressed in rabbit brain

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22814392

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDS292

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22814392 AND SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22814392 AND SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

22814392

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22814392 AND SRC:MED&resulttype=core&format=json