Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
about
Store-operated Ca2+ channels in airway epithelial cell function and implications for asthmaInherited platelet disorders: toward DNA-based diagnosisSTIM and Orai1 Variants in Store-Operated Calcium EntryCalcium Dyshomeostasis in Tubular Aggregate MyopathyDiseases caused by mutations in ORAI1 and STIM1Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1Inside-out Ca(2+) signalling prompted by STIM1 conformational switch.Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Expression of ORAII, a plasma membrane resident subunit of the CRAC channel, in rodent and non-rodent speciesTriadopathies: an emerging class of skeletal muscle diseases.STIM1L traps and gates Orai1 channels without remodeling the cortical ERMissense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activationStore-operated calcium entry: Mechanisms and modulation.Alternative splicing converts STIM2 from an activator to an inhibitor of store-operated calcium channelsCritical role for Orai1 C-terminal domain and TM4 in CRAC channel gating.Store-Operated Ca2+ Channels in Mesangial Cells Inhibit Matrix Protein Expression.The inactivation domain of STIM1 is functionally coupled with the Orai1 pore to enable Ca2+-dependent inactivation.Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.Ion channel-transporter interactions.Inherited disorders of platelet function: selected updates.Molecular mechanisms of STIM/Orai communication.Molecular mechanisms underlying inhibition of STIM1-Orai1-mediated Ca2+ entry induced by 2-aminoethoxydiphenyl borate.ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.Pore opening mechanism of CRAC channels.Tubular aggregate myopathy caused by a novel mutation in the cytoplasmic domain of STIM1.Molecular Determinants for STIM1 Activation During Store- Operated Ca2+ Entry.A coiled-coil clamp controls both conformation and clustering of stromal interaction molecule 1 (STIM1).Excitation-Contraction Coupling Alterations in Myopathies.The STIM1-binding site nexus remotely controls Orai1 channel gating.Stormorken syndrome or York platelet syndrome: A clinician's dilemma.Exercise-dependent formation of new junctions that promote STIM1-Orai1 assembly in skeletal muscle.ORAI channels are critical for receptor-mediated endocytosis of albumin.Authentic CRAC channel activity requires STIM1 and the conserved portion of the Orai N-terminus.Communication between N-terminus and Loop2 tunes Orai activation.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 novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis.
P2860
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P2860
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
description
2014 nî lūn-bûn
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2014 թուականի Մարտին հրատարակուած գիտական յօդուած
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2014 թվականի մարտին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Activating mutations in STIM1 ...... yopathy and congenital miosis.
@ast
Activating mutations in STIM1 ...... yopathy and congenital miosis.
@en
type
label
Activating mutations in STIM1 ...... yopathy and congenital miosis.
@ast
Activating mutations in STIM1 ...... yopathy and congenital miosis.
@en
prefLabel
Activating mutations in STIM1 ...... yopathy and congenital miosis.
@ast
Activating mutations in STIM1 ...... yopathy and congenital miosis.
@en
P2093
P2860
P356
P1476
Activating mutations in STIM1 ...... yopathy and congenital miosis.
@en
P2093
David J Nicholl
E-Ching Ong
Graham Wiley
Klaas J Wierenga
Leonidas Tsiokas
Maria Kousi
Mohnish Suri
Nortina Shahrizaila
Patrick M Gaffney
Thomas Lehmann
P2860
P304
P356
10.1073/PNAS.1312520111
P407
P577
2014-03-03T00:00:00Z