A dominant STIM1 mutation causes Stormorken syndrome (Q33413877)

26 July 2017

title

A dominant STIM1 mutation causes Stormorken syndrome (English)

1 reference

26 July 2017

1 reference

7

André Maues De Paula

0 references

Eirik Frengen

object named as

Eirik Frengen

14

0 references

Helge Stormorken

12

object named as

Helge Stormorken

1 reference

26 July 2017

Geir Erland Tjønnfjord

13

object named as

Geir E Tjønnfjord

1 reference

26 July 2017

Doriana Misceo

1

1 reference

26 July 2017

Asbjørn Holmgren

2

1 reference

26 July 2017

William E Louch

3

1 reference

26 July 2017

Pål A Holme

4

1 reference

26 July 2017

Masahiro Mizobuchi

5

1 reference

26 July 2017

Raul J Morales

6

1 reference

26 July 2017

Asbjørg Stray-Pedersen

8

1 reference

26 July 2017

Robert Lyle

9

1 reference

26 July 2017

Bjørn Dalhus

10

1 reference

26 July 2017

Geir Christensen

11

1 reference

26 July 2017

publication date

9 April 2014

1 reference

26 July 2017

1 reference

26 July 2017

volume

35

1 reference

26 July 2017

issue

5

1 reference

26 July 2017

page(s)

556-564

1 reference

A method and server for predicting damaging missense mutations

26 July 2017

cites work

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

STIMulating store-operated Ca(2+) entry

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Conformational dynamics of STIM1 activation

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

Crystal Structure of the Calcium Release-Activated Calcium Channel Orai

21 January 2018

1 reference

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

Activation of STIM1-Orai1 involves an intramolecular switching mechanism.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Asplenia in ATR-X syndrome: a second report.

21 January 2018

1 reference

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

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

1 reference

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

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

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

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

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

Predicting deleterious amino acid substitutions

21 January 2018

1 reference

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

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

21 January 2018

1 reference

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

A model for receptor-regulated calcium entry

21 January 2018

1 reference

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

New molecular players in capacitative Ca2+ entry

21 January 2018

1 reference

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

STIM proteins: dynamic calcium signal transducers

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

26 July 2017

1 reference