Opsismodysplasia
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
This review focuses on the mutations associated with opsismodysplasia and explores the role of INPPL1/ SHIP2 in skeletal development.
|
27708270 |
2017 |
Opsismodysplasia
|
0.760 |
Biomarker
|
disease |
BEFREE |
SHIP2 has a confirmed role in opsismodysplasia, a disease of bone development, but also interacts with proteins involved in insulin signalling, cytoskeletal function (thus having an impact on endocytosis, adhesion, proliferation and apoptosis) and immune system function.
|
27907247 |
2017 |
Opsismodysplasia
|
0.760 |
Biomarker
|
disease |
BEFREE |
The INPPL1 gene that encodes SHIP2 has been found to be mutated in several cases of opsismodysplasia (OPS), a rare autosomal recessive chondrodysplasia characterized by growth plate defects and delayed bone maturation.
|
28869677 |
2017 |
Opsismodysplasia
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
|
23273569 |
2013 |
Opsismodysplasia
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.
|
23273567 |
2013 |
Opsismodysplasia
|
0.760 |
GermlineCausalMutation
|
disease |
ORPHANET |
Application of solid-phase extraction to agar-supported fermentation.
|
23263569 |
2013 |
Opsismodysplasia
|
0.760 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
|
23273569 |
2013 |
Opsismodysplasia
|
0.760 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.
|
23273567 |
2013 |
Opsismodysplasia
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.
|
23273569 |
2013 |
Opsismodysplasia
|
0.760 |
Biomarker
|
disease |
BEFREE |
Our results further support that INPPL1 is the disease gene for opsismodysplasia and that opsismodysplasia has genetic heterogeneity.
|
23552673 |
2013 |
Opsismodysplasia
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of 12 families with opsismodysplasia revealed that INPPL1 mutations explain ~60% of cases overall, including both of the families in our cohort with more than one affected child and 50% of the simplex cases.
|
23273567 |
2013 |
Opsismodysplasia
|
0.760 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Opsismodysplasia
|
0.760 |
Biomarker
|
disease |
CTD_human |
|
|
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
BEFREE |
One of the newly identified SHIP2 inhibitors is metformin, the first-line medication prescribed to patients with type 2 diabetes, further boosting the attraction of SHIP2 as a treatment target to ameliorate metabolic disorders.
|
31342643 |
2020 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
SHIP2 activity is elevated in glomeruli of patients with T2D receiving nonmetformin medication, but not in patients receiving metformin, compared with people without diabetes.
|
30321069 |
2019 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
CTD_human |
In addition, the G allele of SHIP2 (+2945A/G) seemed to increase the susceptibility to hypertension for T2DM patients.
|
25635986 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In addition, the G allele of SHIP2 (+2945A/G) seemed to increase the susceptibility to hypertension for T2DM patients.
|
25635986 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Because some single-nucleotide polymorphisms (SNP) of the gene encoding SHIP2 were significantly associated in T2DM patients with metabolic syndrome and some related conditions, we decided to conduct a case-control study on this gene, analyzing AD and T2DM subjects as cases and young, old, and centenarians as controls.
|
24313349 |
2014 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent studies have suggested that inhibition of SHIP2 could produce significant benefits in treatment of type 2 diabetes.
|
19694723 |
2009 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our data raise the interesting possibility that SHIP2 inhibition exerts proliferative effects in beta-cells and further support the attractiveness of a specific inhibition of SHIP2 for the treatment of type 2 diabetes.
|
18061583 |
2007 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
BEFREE |
Inositol polyphosphate phosphatase-like 1 (INPPL1, SHIP2) is a negative regulator of insulin signalling and has previously been found to be associated with hypertension, obesity and type 2 diabetes in a cohort of families with diabetes in the UK presenting features of metabolic syndrome.
|
17557929 |
2007 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
BEFREE |
Therefore, SHIP2 remains a significant therapeutic target for the treatment of both obesity and type 2 diabetes.
|
15964236 |
2005 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
INPPL1 mutations affecting gene function have been found in rat models of type 2 diabetes and hypertension and in type 2 diabetic patients.
|
15220217 |
2004 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Altogether, our results show that mutations in the SHIP2 gene contribute to the genetic susceptibility to type 2 diabetes in rats and humans.
|
12086927 |
2002 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.400 |
Biomarker
|
disease |
CTD_human |
Altogether, our results show that mutations in the SHIP2 gene contribute to the genetic susceptibility to type 2 diabetes in rats and humans.
|
12086927 |
2002 |