Related references
Note: Only part of the references are listed.A Dominant STIM1 Mutation Causes Stormorken Syndrome
Doriana Misceo et al.
HUMAN MUTATION (2014)
Calcium Homeostasis and Sensitization in Pulmonary Arterial Smooth Muscle
Nikki L. Jernigan et al.
MICROCIRCULATION (2014)
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Vasyl Nesin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
Johann Boehm et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency
Lea Nakamura et al.
BLOOD (2013)
The STIM1/Orai signaling machinery
Marc Fahrner et al.
CHANNELS (2013)
Transient receptor potential melastatin 7 is involved in oestrogen receptor-negative metastatic breast cancer cells migration through its kinase domain
A. Guilbert et al.
EUROPEAN JOURNAL OF CANCER (2013)
Phosphoglycerate mutase deficiency with tubular aggregates in a patient from panama
Johnny Salameh et al.
MUSCLE & NERVE (2013)
Initial activation of STIM1, the regulator of store-operated calcium entry
Yubin Zhou et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2013)
The Inhibitory Helix Controls the Intramolecular Conformational Switching of the C-Terminus of STIM1
Boyang Cui et al.
PLOS ONE (2013)
Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
Katsiaryna Belaya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Morphological and functional aspects of STIM1-dependent assembly and disassembly of store-operated calcium entry complexes
Wei-Wei Shen et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2012)
Transient receptor potential melastatin-related 7 channel is overexpressed in human pancreatic ductal adenocarcinomas and regulates human pancreatic cancer cell migration
Pierre Rybarczyk et al.
INTERNATIONAL JOURNAL OF CANCER (2012)
Bidirectional Coupling between Ryanodine Receptors and Ca2+ Release-activated Ca2+ (CRAC) Channel Machinery Sustains Store-operated Ca2+ Entry in Human T Lymphocytes
Pratima Thakur et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
LIMB-GIRDLE MYASTHENIA WITH TUBULAR AGGREGATES ASSOCIATED WITH NOVEL GFPT1 MUTATIONS
So-Young Huh et al.
MUSCLE & NERVE (2012)
STIM proteins: dynamic calcium signal transducers
Jonathan Soboloff et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2012)
When tubules aggregate
Hans H. Goebel
NEUROMUSCULAR DISORDERS (2012)
Structural and mechanistic insights into the activation of Stromal interaction molecule 1 (STIM1)
Xue Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Clinical and genetic heterogeneity in laminopathies
Anne T. Bertrand et al.
BIOCHEMICAL SOCIETY TRANSACTIONS (2011)
A new syndrome: thrombocytopathia, muscle fatigue, asplenia, miosis, migraine, dyslexia and ichthyosis
Helge Stormorken et al.
CLINICAL GENETICS (2010)
Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma
Minji Byun et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2010)
L-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
Simon Edvardson et al.
MOLECULAR GENETICS AND METABOLISM (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
CRAC channelopathies
Stefan Feske
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2010)
A new hereditary syndrome with a bleeding tendency, extreme miosis, spasms, dyslexia, thrombocytopathia etc.
O. Sjaastad et al.
ACTA OPHTHALMOLOGICA (2009)
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A
Xinghua Luan et al.
NEUROPATHOLOGY (2009)
Brief Report: STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity.
Capucine Picard et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
A generic method for assignment of reliability scores applied to solvent accessibility predictions
Bent Petersen et al.
BMC STRUCTURAL BIOLOGY (2009)
Inherited traits affecting platelet function
Isabelle I. Salles et al.
BLOOD REVIEWS (2008)
1000 Genomes project
Nayanah Siva
NATURE BIOTECHNOLOGY (2008)
STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle
Jonathan Stiber et al.
NATURE CELL BIOLOGY (2008)
Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia
M. Fleury et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2007)
Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency
Shin J. Oh et al.
MUSCLE & NERVE (2006)
Coot:: model-building tools for molecular graphics
P Emsley et al.
ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2004)
Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?
P Garrard et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2002)
Potentiation and inhibition of Ca2+ release-activated Ca2+ channels by 2-aminoethyldiphenyl borate (2-APB) occurs independently of IP3 receptors
M Prakriya et al.
JOURNAL OF PHYSIOLOGY-LONDON (2001)
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
NM Plaster et al.
CELL (2001)
Share Paper
