Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
A novel Alzheimer disease locus located near the gene encoding tau protein.
|
25778476 |
2016 |
Blood basophil count (lab test)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Cardiomyopathies
|
0.010 |
Biomarker
|
group |
BEFREE |
FNIP1-deficient mice developed cardiomyopathy characterized by left ventricular hypertrophy and glycogen accumulation, with close parallels to mice and humans bearing gain-of-function mutations in the γ2 subunit of AMPK.
|
27303042 |
2016 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Our results collectively define roles for Fnip1 in regulating kidney development and function, and provide a model for how loss of Fnip1 contributes to PKD and perhaps renal cell carcinoma.
|
29897930 |
2018 |
Conventional (Clear Cell) Renal Cell Carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Interestingly FNIP1 and FNIP2 were oppositely expressed in human clear cell renal cell carcinoma (RCC), and coordinately expressed in chromophobe RCC and oncocytoma, suggesting their differential function in different histologic variants of RCC.
|
18403135 |
2008 |
Eosinophil count procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Episodic Kinesigenic Dyskinesia 1
|
0.010 |
Biomarker
|
disease |
BEFREE |
Our results collectively define roles for Fnip1 in regulating kidney development and function, and provide a model for how loss of Fnip1 contributes to PKD and perhaps renal cell carcinoma.
|
29897930 |
2018 |
Fibrofolliculoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The identification of novel FLCN interacting proteins FNIP1 and FNIP2/L and their interaction with 5'-AMP activated protein kinase (AMPK) has provided a link between FLCN and the AMPK-mTOR axis and suggested molecular targets for therapeutic intervention to treat BHD kidney cancer and fibrofolliculomas.
|
23108783 |
2013 |
Humoral immune defect
|
0.010 |
Biomarker
|
group |
BEFREE |
To address this issue, we created a recessive loss-of-function variant of Fnip1 Homozygous FNIP1 deficiency resulted in profound B-cell deficiency, partially restored by overexpression of the antiapoptotic protein BCL2, whereas heterozygous deficiency caused a loss of marginal zone B cells.
|
27303042 |
2016 |
Hurthle Cell Tumor
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Interestingly FNIP1 and FNIP2 were oppositely expressed in human clear cell renal cell carcinoma (RCC), and coordinately expressed in chromophobe RCC and oncocytoma, suggesting their differential function in different histologic variants of RCC.
|
18403135 |
2008 |
Kidney Neoplasm
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dube' syndrome characterized by increased risk for renal neoplasia is caused by germline mutations in the BHD/FLCN gene encoding a novel tumor suppressor protein, folliculin(FLCN), which interacts with FNIP1 and 5'-AMP-activated protein kinase(AMPK).
|
18403135 |
2008 |
Left Ventricular Hypertrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
FNIP1-deficient mice developed cardiomyopathy characterized by left ventricular hypertrophy and glycogen accumulation, with close parallels to mice and humans bearing gain-of-function mutations in the γ2 subunit of AMPK.
|
27303042 |
2016 |
Malignant neoplasm of kidney
|
0.010 |
Biomarker
|
disease |
BEFREE |
The identification of novel FLCN interacting proteins FNIP1 and FNIP2/L and their interaction with 5'-AMP activated protein kinase (AMPK) has provided a link between FLCN and the AMPK-mTOR axis and suggested molecular targets for therapeutic intervention to treat BHD kidney cancer and fibrofolliculomas.
|
23108783 |
2013 |
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Folliculin-interacting protein 1 and 2 (FNIP1 and FNIP2) play critical roles in preventing renal malignancy through their association with the tumor suppressor FLCN.
|
28039480 |
2017 |
mathematical ability
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.
|
30038396 |
2018 |
Multiple fibrofolliculomas
|
0.010 |
Biomarker
|
disease |
BEFREE |
The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development.
|
22709692 |
2012 |
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
Folliculin-interacting protein 1 and 2 (FNIP1 and FNIP2) play critical roles in preventing renal malignancy through their association with the tumor suppressor FLCN.
|
28039480 |
2017 |
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
In this review, we summarize the basic mechanisms of mTOR signaling; describe what is known about the roles of mTORC1, mTORC2, and the Folliculin/Fnip1 pathway in B cell development and functions; and briefly outline current clinical approaches for targeting mTOR in B cell neoplasms.
|
28583723 |
2017 |
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
These data taken together with our previous results that demonstrated FNIP1 binding to the C-terminus of FLCN suggest that FLCN tumor suppressor function may be facilitated by interactions with both FNIP1 and FNIP2 through its C-terminus.
|
18403135 |
2008 |
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
In contrast to Flcn, Fnip1(-/-) mice develop normally, are not susceptible to kidney neoplasia, but display a striking pro-B cell block that is entirely independent of mTOR activity.
|
22709692 |
2012 |
Neoplasms
|
0.050 |
Biomarker
|
group |
BEFREE |
Here we show that the tumour suppressor FLCN is an Hsp90 client protein and its binding partners FNIP1/FNIP2 function as co-chaperones.
|
27353360 |
2016 |
Oncocytic Neoplasm
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Interestingly FNIP1 and FNIP2 were oppositely expressed in human clear cell renal cell carcinoma (RCC), and coordinately expressed in chromophobe RCC and oncocytoma, suggesting their differential function in different histologic variants of RCC.
|
18403135 |
2008 |
Oxyphilic Adenoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Interestingly FNIP1 and FNIP2 were oppositely expressed in human clear cell renal cell carcinoma (RCC), and coordinately expressed in chromophobe RCC and oncocytoma, suggesting their differential function in different histologic variants of RCC.
|
18403135 |
2008 |
Polycystic Kidney Diseases
|
0.010 |
Biomarker
|
group |
BEFREE |
Whereas kidney-specific deletion of the Bhd gene in mice is known to result in polycystic kidney disease (PKD) and renal cell carcinoma, the roles of Fnip1 in renal cell development and function are unclear.
|
29897930 |
2018 |