(Q33413877)

26 July 2017

title

A dominant STIM1 mutation causes Stormorken syndrome (English)

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26 July 2017

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7

André Maues De Paula

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Eirik Frengen

object named as

Eirik Frengen

14

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Helge Stormorken

12

object named as

Helge Stormorken

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26 July 2017

Geir Erland Tjønnfjord

13

object named as

Geir E Tjønnfjord

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26 July 2017

Doriana Misceo

1

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26 July 2017

Asbjørn Holmgren

2

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26 July 2017

William E Louch

3

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26 July 2017

Pål A Holme

4

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26 July 2017

Masahiro Mizobuchi

5

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26 July 2017

Raul J Morales

6

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26 July 2017

Asbjørg Stray-Pedersen

8

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26 July 2017

Robert Lyle

9

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26 July 2017

Bjørn Dalhus

10

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26 July 2017

Geir Christensen

11

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26 July 2017

publication date

9 April 2014

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26 July 2017

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26 July 2017

volume

35

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26 July 2017

issue

5

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26 July 2017

page(s)

556-564

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A method and server for predicting damaging missense mutations

26 July 2017

cites work

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Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy

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Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

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STIMulating store-operated Ca(2+) entry

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A basic sequence in STIM1 promotes Ca2+ influx by interacting with the C-terminal acidic coiled coil of Orai1.

21 January 2018

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Evolutionary origins of STIM1 and STIM2 within ancient Ca2+ signaling systems

21 January 2018

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The inhibitory helix controls the intramolecular conformational switching of the C-terminus of STIM1

21 January 2018

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Conformational dynamics of STIM1 activation

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Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

21 January 2018

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STIM1, Orai1 and hTRPC1 are important for thrombin- and ADP-induced aggregation in human platelets.

21 January 2018

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An EF hand mutation in Stim1 causes premature platelet activation and bleeding in mice

21 January 2018

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A capacitative calcium current in cultured skeletal muscle cells is mediated by the calcium-specific leak channel and inhibited by dihydropyridine compounds

21 January 2018

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Crystal Structure of the Calcium Release-Activated Calcium Channel Orai

21 January 2018

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Activation of STIM1-Orai1 involves an intramolecular switching mechanism.

21 January 2018

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Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module

21 January 2018

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Asplenia in ATR-X syndrome: a second report.

21 January 2018

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Platelet membrane phospholipid asymmetry: from the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome

21 January 2018

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21 January 2018

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21 January 2018

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Predicting deleterious amino acid substitutions

21 January 2018

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STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

21 January 2018

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A model for receptor-regulated calcium entry

21 January 2018

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21 January 2018

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21 January 2018

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Stromal interaction molecule (STIM) 1 and STIM2 calcium sensing regions exhibit distinct unfolding and oligomerization kinetics

21 January 2018

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Structural and mechanistic insights into STIM1-mediated initiation of store-operated calcium entry

21 January 2018

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The calcium sensor STIM1 is an essential mediator of arterial thrombosis and ischemic brain infarction

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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Identification and characterization of the STIM (stromal interaction molecule) gene family: coding for a novel class of transmembrane proteins

21 January 2018

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Structural and mechanistic insights into the activation of Stromal interaction molecule 1 (STIM1)

21 January 2018

1 reference

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STIM1 and Orai1 mediate thrombin-induced Ca(2+) influx in rat cortical astrocytes

21 January 2018

1 reference

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7 January 2021

A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc. Pupillometric, evaporimetric, and ophthalmological observations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22544

7 January 2021

A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22544

7 January 2021

Role of calcium and calpain in complement-induced vesiculation of the platelet plasma membrane and in the exposure of the platelet factor Va receptor

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22544

7 January 2021

Intramolecular shielding maintains the ER Ca²⁺ sensor STIM1 in an inactive conformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22544

7 January 2021

Identifiers

DOI

10.1002/HUMU.22544

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26 July 2017

1 reference