|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Inflammatory Bowel Diseases
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
|
26192919 |
2015 |
|
Inflammatory Bowel Diseases
|
0.100 |
GeneticVariation
|
group |
GWASDB |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
|
23128233 |
2012 |
|
Inflammatory Bowel Diseases
|
0.100 |
GeneticVariation
|
group |
GWASCAT |
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
|
23128233 |
2012 |
|
Carcinogenesis
|
0.020 |
GeneticVariation
|
phenotype |
BEFREE |
Underlying predisposing mechanisms are unelucidated, but inositol polyphosphate multikinase (IPMK) gene alterations might promote their tumorigenesis.
|
27825921 |
2017 |
|
Carcinogenesis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
IPMK haploinsufficiency promotes carcinoid tumorigenesis.
|
25865046 |
2015 |
|
Hepatitis
|
0.010 |
Biomarker
|
group |
BEFREE |
Thus, targeting IPMK may afford therapeutic benefits in disabilities that depend on autophagy and lipophagy-specifically, in liver inflammation and regeneration.
|
30840891 |
2019 |
|
Liver regeneration disorder
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Noncatalytic functions of IPMK are essential for activation of autophagy and liver regeneration.
|
31066329 |
2019 |
|
Malformations of Cortical Development, Group II
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
To determine if IPMK was upstream of integrin β1 expression, we examined IPMK<sup>-/-</sup> mouse embryonic fibroblast cells and found that integrins β1 and β3 gene expression was reduced by half, relative to wild-type cells, whereas focal adhesion kinase (FAK) activity and Rho/Rac/Cdc42 protein levels were increased, resulting in migration defects.
|
31657647 |
2019 |
|
Carcinoid Tumor
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.
|
27825921 |
2017 |
|
Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
No IPMK mutation was found in constitutional or tumor DNA.
|
27825921 |
2017 |
|
Septicemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We show that myeloid-specific deletion of inositol polyphosphate multikinase (IPMK), which has both inositol polyphosphate kinase activities and noncatalytic signaling functions, protects mice against polymicrobial sepsis and lipopolysaccharide-induced systemic inflammation.
|
28439546 |
2017 |
|
Sepsis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We show that myeloid-specific deletion of inositol polyphosphate multikinase (IPMK), which has both inositol polyphosphate kinase activities and noncatalytic signaling functions, protects mice against polymicrobial sepsis and lipopolysaccharide-induced systemic inflammation.
|
28439546 |
2017 |
|
ovarian neoplasm
|
0.010 |
Biomarker
|
disease |
BEFREE |
MicroRNA-18a inhibits ovarian cancer growth via directly targeting TRIAP1 and IPMK.
|
28588697 |
2017 |
|
Malignant neoplasm of ovary
|
0.010 |
Biomarker
|
disease |
BEFREE |
MicroRNA-18a inhibits ovarian cancer growth via directly targeting TRIAP1 and IPMK.
|
28588697 |
2017 |
|
Carcinoma, Ovarian Epithelial
|
0.010 |
Biomarker
|
disease |
BEFREE |
MicroRNA-18a inhibits ovarian cancer growth via directly targeting TRIAP1 and IPMK.
|
28588697 |
2017 |
|
Crohn Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Of these, rs2516049 (closest gene HLA-DRB5; conjunction false discovery rate P = .04 for AD and psoriasis, 5.37 × 10-5 for AD, and 6.03 × 10-15 for psoriasis) and rs12570088 (closest gene IPMK; conjunction false discovery rate P = .009 for AD and Crohn disease, P = 5.73 × 10-6 for AD, and 6.57 × 10-5 for Crohn disease) demonstrated the same direction of allelic effect between AD and the immune-mediated diseases.
|
27088644 |
2016 |
|
Psoriasis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Of these, rs2516049 (closest gene HLA-DRB5; conjunction false discovery rate P = .04 for AD and psoriasis, 5.37 × 10-5 for AD, and 6.03 × 10-15 for psoriasis) and rs12570088 (closest gene IPMK; conjunction false discovery rate P = .009 for AD and Crohn disease, P = 5.73 × 10-6 for AD, and 6.57 × 10-5 for Crohn disease) demonstrated the same direction of allelic effect between AD and the immune-mediated diseases.
|
27088644 |
2016 |
|
Alzheimer Disease, Late Onset
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Regarding gene expression, HLA-DRA and IPMK transcript expression was significantly altered in AD brains compared with control brains (HLA-DRA: β [SE], 0.155 [0.024]; P = 1.97 × 10-10; IPMK: β [SE], -0.096 [0.013]; P = 7.57 × 10-13).
|
27088644 |
2016 |
|
Huntington Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
IPMK depletion appears to mediate neural dysfunction, because intrastriatal delivery of IPMK abates the progression of motor abnormalities and rescues striatal pathology in transgenic murine models of HD.
|
26195796 |
2015 |
|
Metabolic Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Our data demonstrate that IPMK plays an important role in LKB1/AMPK signaling and may be targeted for treatment of metabolic diseases.
|
24877601 |
2014 |