Malignant neoplasm of kidney
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé (BHD) Syndrome is a rare genodermatosis caused by a mutation on folliculin gene, with a strong link to renal cancer.
|
30326848 |
2018 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
BHD-associated kidney cancer displays unique molecular characteristics that are completely different from sporadic kidney cancer, providing mechanistic insight into tumorigenesis under FLCN-deficiency as well as a foundation for development of novel therapeutics for kidney cancer.
|
29767721 |
2018 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
These findings may provide mechanistic insight into the role of FLCN in regulating kidney cell proliferation and facilitate the development of novel therapeutics for FLCN-deficient kidney cancer.
|
28007907 |
2017 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
These results indicate that SCFβ-TRCP negatively regulates the FLCN complex by promoting FNIP degradation and provide molecular insight into the pathogenesis of BHD-associated renal cancer.
|
28039480 |
2017 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer.
|
26608100 |
2016 |
Malignant neoplasm of kidney
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Case Report of Birt-Hogg-Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer.
|
27258496 |
2016 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
A previous study has shown preferential toxicity of paclitaxel to FLCN-deficient kidney cancer cell line, UOK257.
|
24305604 |
2013 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
Folliculin (FLCN) is a tumor suppressor whose function is lost in Birt-Hogg-Dubé syndrome (BHD), a disorder characterized by renal cancer of multiple histological types including clear cell carcinoma, cutaneous fibrofolliculoma, and pneumothorax.
|
23922894 |
2013 |
Malignant neoplasm of kidney
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
|
23264078 |
2013 |
Malignant neoplasm of kidney
|
0.600 |
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 neoplasm of kidney
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer.
|
22977732 |
2012 |
Malignant neoplasm of kidney
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHDS), caused by germline mutations in the folliculin (FLCN) gene, predisposes individuals to develop fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and kidney cancer.
|
21412933 |
2011 |
Malignant neoplasm of kidney
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Among 14 FLCN mutation carriers who developed renal cancer 7 were <50 years at onset and/or had multifocal/bilateral tumours.
|
22146830 |
2011 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
Two animal models and studies of renal cancers support a tumor-suppressor function for folliculin.
|
16825879 |
2006 |
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
BEFREE |
Discovery of disease-causing mutations in BHD, a novel kidney cancer gene associated with renal oncocytoma or chromophobe renal cancer, will contribute to understanding the role of folliculin in pathways common to skin, lung, and kidney development.
|
12204536 |
2002 |
Malignant neoplasm of kidney
|
0.600 |
CausalMutation
|
disease |
CGI |
|
|
|
Malignant neoplasm of kidney
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|