Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (Q33416599)

26 July 2017

title

Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome (English)

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26 July 2017

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12

Peter Nürnberg

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26 July 2017

Gilles Morin

1

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26 July 2017

Nadina Ortiz Bruechle

2

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26 July 2017

Amrathlal Rabbind Singh

3

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26 July 2017

Cordula Knopp

4

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26 July 2017

Guillaume Jedraszak

5

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26 July 2017

Miriam Elbracht

6

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Dominique Brémond-Gignac

7

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26 July 2017

Kathi Hartmann

8

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26 July 2017

Henri Sevestre

9

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26 July 2017

Peter Deutz

10

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26 July 2017

Didier Hérent

11

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26 July 2017

Bernard Roméo

13

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26 July 2017

Kerstin Konrad

14

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26 July 2017

Michèle Mathieu-Dramard

15

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26 July 2017

Johannes Oldenburg

16

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26 July 2017

Elisabeth Bourges-Petit

17

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26 July 2017

Yuequan Shen

18

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26 July 2017

Klaus Zerres

19

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26 July 2017

Halima Ouadid-Ahidouch

20

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26 July 2017

Jacques Rochette

21

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26 July 2017

publication date

1 October 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

10

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26 July 2017

page(s)

1221-1232

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A method and server for predicting damaging missense mutations

26 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Clinical and genetic heterogeneity in laminopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

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.22621

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.22621

l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Coot: model-building tools for molecular graphics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

The STIM1/Orai signaling machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Transient receptor potential melastatin 7 is involved in oestrogen receptor-negative metastatic breast cancer cells migration through its kinase domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Limb-girdle myasthenia with tubular aggregates associated with novel GFPT1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Calcium homeostasis and sensitization in pulmonary arterial smooth muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

A dominant STIM1 mutation causes Stormorken syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

A generic method for assignment of reliability scores applied to solvent accessibility predictions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Potentiation and inhibition of Ca(2+) release-activated Ca(2+) channels by 2-aminoethyldiphenyl borate (2-APB) occurs independently of IP(3) receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Transient receptor potential melastatin-related 7 channel is overexpressed in human pancreatic ductal adenocarcinomas and regulates human pancreatic cancer cell migration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Inherited traits affecting platelet function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Morphological and functional aspects of STIM1-dependent assembly and disassembly of store-operated calcium entry complexes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

STIM proteins: dynamic calcium signal transducers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Bidirectional coupling between ryanodine receptors and Ca2+ release-activated Ca2+ (CRAC) channel machinery sustains store-operated Ca2+ entry in human T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Skeletal muscle of patients with gyrate atrophy of the choroid and retina and hyperornithinaemia in ultralow-field magnetic resonance imaging and computed tomography.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

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.22621

Initial activation of STIM1, the regulator of store-operated calcium entry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

Characterisation of the inhibition of the hepatocyte receptor-activated Ca2+ inflow system by gadolinium and SK&F 96365

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

7 January 2021

When tubules aggregate

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https://api.crossref.org/works/10.1002%2FHUMU.22621

7 January 2021

Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22621

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.22621

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7 January 2021

The hereditary syndrome of thrombocytopathia, bleeding tendency, extreme miosis, muscular fatigue, asplenia, headache, etc. ("Stormorken's syndrome"): I. The headache

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https://api.crossref.org/works/10.1002%2FHUMU.22621

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.22621

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.22621

7 January 2021

Identifiers

DOI

10.1002/HUMU.22621

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26 July 2017

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