Expanding the clinical and genetic spectrum of pathogenic variants in STIM1

Stormorken Syndrome: A Rare Cause of Myopathy With Tubular Aggregates and Dystrophic Features

(2019) Ang Li et al.   JOURNAL OF CHILD NEUROLOGY

Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome

(2018) Johann Böhm et al.   CELL CALCIUM

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

(2018) Guja Astrea et al.   Orphanet Journal of Rare Diseases

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation

(2017) Jean-Baptiste Noury et al.   NEUROMUSCULAR DISORDERS

Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains

(2017) Elizabeth Harris et al.   NEUROMUSCULAR DISORDERS

CardiacStim1Silencing Impairs Adaptive Hypertrophy and Promotes Heart Failure Through Inactivation of mTORC2/Akt SignalingCLINICAL PERSPECTIVE

(2016) Ludovic Bénard et al.   CIRCULATION

A novel gain-of-function mutation inORAI1causes late-onset tubular aggregate myopathy and congenital miosis

(2016) M. Garibaldi et al.   CLINICAL GENETICS

Store-Operated Ca2+ Entry (SOCE) contributes to angiotensin II-induced cardiac fibrosis in cardiac fibroblasts

(2016) Boyu Zhang et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

(2016) C. Fiorillo et al.   Orphanet Journal of Rare Diseases

Roles of store-operated Ca2+ channels in regulating cell cycling and migration of human cardiac c-kit+ progenitor cells

(2015) Hui Che et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Diseases caused by mutations inORAI1andSTIM1

(2015) Rodrigo S. Lacruz et al.   Annals of the New York Academy of Sciences

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

(2015) Thomas Markello et al.   MOLECULAR GENETICS AND METABOLISM

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1

(2015) Giorgio Tasca et al.   NEUROMUSCULAR DISORDERS

50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation

(2015) Maggie C. Walter et al.   NEUROMUSCULAR DISORDERS

Stim and Orai proteins in neuronal Ca2+ signaling and excitability

(2015) Francesco Moccia et al.   Frontiers in Cellular Neuroscience

A Dominant STIM1 Mutation Causes Stormorken Syndrome

(2014) Doriana Misceo et al.   HUMAN MUTATION

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

(2014) Johann Böhm et al.   JOURNAL OF MEDICAL GENETICS

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

(2014) Carola Hedberg et al.   JOURNAL OF NEUROLOGY

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

Critical Role for Stromal Interaction Molecule 1 in Cardiac Hypertrophy

(2011) Jean-Sébastien Hulot et al.   CIRCULATION

Tubular aggregates in skeletal muscle: Just a special type of protein aggregates?

(2011) Stefano Schiaffino   NEUROMUSCULAR DISORDERS

Immunodeficiency due to mutations in ORAI1 and STIM1

(2010) Stefan Feske et al.   CLINICAL IMMUNOLOGY

Orai1 and Stim1 regulate normal and hypertrophic growth in cardiomyocytes

(2010) Mirko Voelkers et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

SOAR and the polybasic STIM1 domains gate and regulate Orai channels

(2009) Joseph P. Yuan et al.   NATURE CELL BIOLOGY

Structural and Mechanistic Insights into STIM1-Mediated Initiation of Store-Operated Calcium Entry

(2008) Peter B. Stathopulos et al.   CELL