(Q33419718)

26 July 2017

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1. (English)

1 reference

26 July 2017

Thomas Markello

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1 reference

26 July 2017

Dong Chen

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26 July 2017

Justin Y Kwan

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26 July 2017

Iren Horkayne-Szakaly

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26 July 2017

Alan Morrison

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26 July 2017

Olga Simakova

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26 July 2017

Irina Maric

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26 July 2017

Jay Lozier

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26 July 2017

Andrew R Cullinane

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26 July 2017

Tatjana Kilo

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26 July 2017

Lynn Meister

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26 July 2017

Kourosh Pakzad

12

1 reference

26 July 2017

William Bone

13

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26 July 2017

Sanjay Chainani

14

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26 July 2017

Elizabeth Lee

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26 July 2017

Amanda Links

16

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26 July 2017

Cornelius Boerkoel

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1 reference

26 July 2017

Roxanne Fischer

18

1 reference

26 July 2017

Camilo Toro

19

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26 July 2017

James G White

20

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26 July 2017

William A Gahl

21

1 reference

26 July 2017

Meral Gunay-Aygun

22

1 reference

26 July 2017

24 December 2014

1 reference

Molecular Genetics and Metabolism

26 July 2017

9

1 reference

based on heuristic

inferred from page(s)

published in

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26 July 2017

114

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26 July 2017

3

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26 July 2017

474-482

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A dominant STIM1 mutation causes Stormorken syndrome

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Ion channels and transporters in lymphocyte function and immunity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Regulation of lymphocyte function by ORAI and STIM proteins in infection and autoimmunity.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

A low-cost library construction protocol and data analysis pipeline for Illumina-based strand-specific multiplex RNA-seq

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

The York Platelet Syndrome: a third case

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Immunodeficiency due to mutations in ORAI1 and STIM1.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

ORAI1 and STIM1 deficiency in human and mice: roles of store-operated Ca2+ entry in the immune system and beyond.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Store-operated calcium channels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Giant electron dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder IV. Ultrastructural cytochemistry and analytical electron microscopy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Giant electron dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder III. Platelet analytical electron microscopy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Giant electron-dense chains, clusters and granules in megakaryocytes and platelets with normal dense bodies: an inherited thrombocytopenic disorder I. Megakaryocytes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Muscle involvement of Stormorken's syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Depletion of intracellular calcium stores activates a calcium current in mast cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Orai1 (CRACM1) is the platelet SOC channel and essential for pathological thrombus formation.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4355183

The York platelet syndrome: a fourth case with unusual pathologic features

31 October 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.12.307

The NIH Undiagnosed Diseases Program: lessons learned

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.12.307

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.12.307

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2014.12.307

Studies on the haemostatic defect in a complicated syndrome. An inverse Scott syndrome platelet membrane abnormality?

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25577287

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2014.12.307

1 reference

26 July 2017

1 reference

26 July 2017

1 reference