|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we list and review all new and previously reported STIM1 and ORAI1 cases, discuss the pathomechanisms of the mutations based on the known functions and the protein structure of STIM1 and ORAI1, draw a genotype/phenotype correlation, and delineate an efficient screening strategy for the molecular diagnosis of TAM/STRMK.
|
31448844 |
2020 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Conversely, gain-of-function (GOF) mutations in ORAI1 and STIM1 are associated with tubular aggregate myopathy (TAM) and Stormorken syndrome due to constitutive CRAC channel activation.
|
31009822 |
2019 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in STIM1 or ORAI1 isoforms cause tubular aggregate myopathy (TAM), a skeletal muscle disorder with muscular pain, weakness and cramping.
|
30382595 |
2019 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, we provide insight into the pathophysiological effect of the STIM1 R304W mutation in different cells, tissues and organs and thereby significantly contribute to a deeper understanding of the pathomechanisms underlying TAM/STRMK and other human disorders involving aberrant Ca2+ homeostasis and affecting muscle, bones, platelets or the immune system.
|
30576443 |
2019 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy.
|
31666234 |
2019 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.
|
30243034 |
2018 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This study reports a novel STIM1 mutation located in the Ca<sup>2+</sup>-binding EF domain causing TAM with features of Stormorken syndrome.
|
27876257 |
2017 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dominant gain-of-function mutations in STIM1 or ORAI1 cause tubular aggregate myopathy (TAM) or Stormorken syndrome, whereas recessive loss-of-function mutations are associated with immunodeficiency.
|
28058752 |
2017 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in STIM1 are a cause of three allelic conditions: tubular aggregate myopathy, Stormorken syndrome (a complex phenotype including myopathy, hyposplenism, hypocalcaemia and bleeding diathesis), and a platelet dysfunction disorder, York platelet syndrome.
|
28624464 |
2017 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Muscle imaging can be useful in identifying STIM1-mutated patients especially among other forms of tubular aggregate myopathy.
|
26255678 |
2015 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
By contrast, autosomal dominant gain-of-function mutations in ORAI1 and STIM1 result in constitutive CRAC channel activation, SOCE, and increased intracellular Ca(2+) levels that are associated with an overlapping spectrum of diseases, including nonsyndromic tubular aggregate myopathy (TAM) and York platelet and Stormorken syndromes.
|
26469693 |
2015 |
|
Tubular Aggregate Myopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
|
25577287 |
2015 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results indicate that STIM1-independent activation of CRAC channels induced by dominant mutations in ORAI1 cause altered Ca(2+) homeostasis, resulting in TAM with hypocalcemia.
|
25227914 |
2015 |
|
Tubular Aggregate Myopathy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We studied a German family with tubular aggregate myopathy and defined cellular consequences of altered STIM1 function.
|
25953320 |
2015 |
|
Tubular Aggregate Myopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous gain-of-function mutations in STIM1 cause non-syndromic myopathies as well as syndromic forms of miosis and myopathy with tubular aggregates and Stormorken syndrome; some of these syndromic forms are associated with thrombocytopenia.
|
25577287 |
2015 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we identify gain-of-function mutations in the cytoplasmic domain of STIM1 (p.R304W) associated with thrombocytopenia, bleeding diathesis, miosis, and tubular myopathy in patients with Stormorken syndrome, and in ORAI1 (p.P245L), associated with a Stormorken-like syndrome of congenital miosis and tubular aggregate myopathy but without hematological abnormalities.
|
24591628 |
2014 |
|
Tubular Aggregate Myopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.
|
24591628 |
2014 |
|
Tubular Aggregate Myopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
|
25044882 |
2014 |
|
Tubular Aggregate Myopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A dominant STIM1 mutation causes Stormorken syndrome.
|
24619930 |
2014 |
|
Tubular Aggregate Myopathy
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
|
24570283 |
2014 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We describe six new TAM families harbouring one known and four novel STIM1 mutations.
|
25326555 |
2014 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
|
24570283 |
2014 |
|
Tubular Aggregate Myopathy
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
In contrast, the missense mutations found in our four TAM-affected families induced constitutive STIM1 clustering, indicating that Ca(2+) sensing was impaired.
|
23332920 |
2013 |
|
Tubular Aggregate Myopathy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified dominant STIM1 mutations as a genetic cause of tubular-aggregate myopathy (TAM).
|
23332920 |
2013 |