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

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

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

(2014) V. Nesin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

(2013) Johann Böhm et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) L. Nakamura et al.   BLOOD

The STIM1/Orai signaling machinery

(2013) Marc Fahrner et al.   Channels

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

(2013) A. Guilbert et al.   EUROPEAN JOURNAL OF CANCER

Calcium Homeostasis and Sensitization in Pulmonary Arterial Smooth Muscle

(2013) Nikki L. Jernigan et al.   MICROCIRCULATION

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

(2013) Yubin Zhou et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Inhibitory Helix Controls the Intramolecular Conformational Switching of the C-Terminus of STIM1

(2013) Boyang Cui et al.   PLoS One

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

(2012) Katsiaryna Belaya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Wei-Wei Shen et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

(2012) Pierre Rybarczyk et al.   INTERNATIONAL JOURNAL OF CANCER

Bidirectional Coupling between Ryanodine Receptors and Ca2+Release-activated Ca2+(CRAC) Channel Machinery Sustains Store-operated Ca2+Entry in Human T Lymphocytes

(2012) Pratima Thakur et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2012) So-Young Huh et al.   MUSCLE & NERVE

Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama

(2012) Johnny Salameh et al.   MUSCLE & NERVE

STIM proteins: dynamic calcium signal transducers

(2012) Jonathan Soboloff et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

When tubules aggregate

(2012) Hans H. Goebel   NEUROMUSCULAR DISORDERS

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

(2012) X. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical and genetic heterogeneity in laminopathies

(2011) Anne T. Bertrand et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

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

(2010) Helge Stormorken et al.   CLINICAL GENETICS

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

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2010) Simon Edvardson et al.   MOLECULAR GENETICS AND METABOLISM

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

CRAC channelopathies

(2010) Stefan Feske   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc.

(2009) O. Sjaastad et al.   ACTA OPHTHALMOLOGICA

STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

(2009) Capucine Picard et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2009) Bent Petersen et al.   BMC STRUCTURAL BIOLOGY

Inherited traits affecting platelet function

(2008) Isabelle I. Salles et al.   BLOOD REVIEWS

1000 Genomes project

(2008) Nayanah Siva   NATURE BIOTECHNOLOGY

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

(2008) Jonathan Stiber et al.   NATURE CELL BIOLOGY

Tubular aggregates in paralysis periodica paramyotonica with T704M mutation ofSCN4A

(2008) Xinghua Luan et al.   NEUROPATHOLOGY