Stormorken Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Abnormal activation of STIM1 directly influences Ca<sup>2+</sup> influx, resulting in severe diseases such as Stormorken syndrome.
|
31831524 |
2020 |
Stormorken Syndrome
|
0.800 |
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 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing revealed that both mother and son carried a missense mutation of c.326A>G in exon 3 of the STIM1 gene, which is novel for Stormorken syndrome.
|
30761937 |
2019 |
Stormorken Syndrome
|
0.800 |
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 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The genetically inherited Stormorken syndrome disease has been associated with the STIM1 single point R304W mutant.
|
29483506 |
2018 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We established a mouse line expressing the STIM1 R304 W gain-of-function mutation causing Stormorken syndrome to explore effects on organ and cell physiology.
|
30390422 |
2018 |
Stormorken Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.
|
28624464 |
2017 |
Stormorken Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
Stormorken Syndrome
|
0.800 |
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 |
Stormorken Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS.
|
25577287 |
2015 |
Stormorken Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS.
|
25577287 |
2015 |
Stormorken Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS.
|
25577287 |
2015 |
Stormorken Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
|
26436962 |
2015 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These findings expand the phenotypic spectrum of STIM1-related human disorders and define the molecular basis of YPS.
|
25577287 |
2015 |
Stormorken Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
|
25044882 |
2014 |
Stormorken Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.
|
24591628 |
2014 |
Stormorken Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.
|
24591628 |
2014 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.
|
25044882 |
2014 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients.
|
24619930 |
2014 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.
|
24591628 |
2014 |
Stormorken Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients.
|
24619930 |
2014 |
Stormorken Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Thus, our data are compatible with a near-maximal activation of STIM1 in Stormorken syndrome patients.
|
24619930 |
2014 |
Stormorken Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.
|
24570283 |
2014 |
Stormorken Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Heterologous expression of STIM1 p.R304W results in constitutive activation of the CRAC channel in vitro, and spontaneous bleeding accompanied by reduced numbers of thrombocytes in zebrafish embryos, recapitulating key aspects of Stormorken syndrome. p.P245L in ORAI1 does not make a constitutively active CRAC channel, but suppresses the slow Ca(2+)-dependent inactivation of the CRAC channel, thus also functioning as a gain-of-function mutation.
|
24591628 |
2014 |
Stormorken Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
|
23332920 |
2013 |