|
Tubular Aggregate Myopathy
|
0.600 |
Biomarker
|
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
|
0.600 |
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
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we characterize two overactive ORAI1 mutants from patients with TAM: V107M and T184M, located in the first and third transmembrane domain of the channel.
|
30382595 |
2019 |
|
Tubular Aggregate Myopathy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Overactive SOCE results in excessive extracellular Ca2+ entry due to dominant STIM1 or ORAI1 mutations and has been associated with tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK).
|
30576443 |
2019 |
|
Tubular Aggregate Myopathy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in STIM1 and ORAI1 causing tubular aggregate myopathy and Stormorken syndrome.
|
30243034 |
2018 |
|
Tubular Aggregate Myopathy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the identification and functional characterization of novel ORAI1 mutations in TAM patients.
|
28058752 |
2017 |
|
Tubular Aggregate Myopathy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our findings extend the clinical and genetic spectrum of the ORAI1-related TAM.
|
27882542 |
2017 |
|
Tubular Aggregate Myopathy
|
0.600 |
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
|
0.600 |
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
|
0.600 |
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
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
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
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|