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

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

Item
http://www.wikidata.org/entity/Q33416599
Calcium Dyshomeostasis in Tubular Aggregate MyopathyDiseases caused by mutations in ORAI1 and STIM1Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activationStore-operated calcium entry: Mechanisms and modulation.Molecular mechanisms of STIM/Orai communication.Role of STIM2 in cell function and physiopathology.ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.Molecular Determinants for STIM1 Activation During Store- Operated Ca2+ Entry.Stormorken syndrome or York platelet syndrome: A clinician's dilemma.A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency.ORAI channels are critical for receptor-mediated endocytosis of albumin.Cardiovascular and Hemostatic Disorders: SOCE and Ca2+ Handling in Platelet Dysfunction.Introduction: Overview of the Pathophysiological Implications of Store-Operated Calcium Entry in Mammalian Cells.The STIM-Orai Pathway: The Interactions Between STIM and Orai.A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state.Store-Operated Calcium Channels.Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature
P2860

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

Item
http://www.wikidata.org/entity/Q33416599
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name
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
@ast
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
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type
label
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
@ast
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
@en
prefLabel
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
@ast
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
@en
P1433
P1476
P2093
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P5875
P698
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P1476
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698