|
Fibrofolliculoma
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that the decreased FLCN expression itself without producing mutated folliculin proteins can be at risk for developing clinical manifestations of BHDS: fibrofolliculomas, lung cysts, and tumorigenesis in the kidneys.
|
31778855 |
2019 |
|
Fibrofolliculoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
The diagnosis of BHDS was established by folliculin (FLCN) genetic testing, and the results were compared to the histopathological findings of FFs or trichodiscomas (TDs).
|
29157599 |
2018 |
|
Fibrofolliculoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
Ongoing research efforts are focused on clarifying the primary FLCN-associated pathway(s) that drives the development of fibrofolliculomas, lung cysts and kidney tumors in BHD patients carrying germline FLCN mutations.
|
28970150 |
2018 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC).
|
28069055 |
2017 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutation of the FLCN gene causes Birt-Hogg-Dubé syndrome (BHD), a rare autosomal dominant condition characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal tumours.
|
26342594 |
2016 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the Folliculin gene and is characterized by the formation of fibrofolliculomas, early onset renal cancers, pulmonary cysts, and spontaneous pneumothoraces.
|
27514594 |
2016 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FLCN gene are responsible for fibrofolliculoma, pulmonary and renal cysts, and renal cell carcinoma in patients with Birt-Hogg-Dubé syndrome.
|
24434776 |
2014 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
It is known that mutation of FLCN can predispose Birt-Hogg-Dubé (BHD) patient's to renal cell carcinoma , renal and lung cysts, as well as skin fibrofolliculomas.
|
23096221 |
2013 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The Birt-Hogg-Dube disease occurs as a result of germline mutations in the human Folliculin gene (FLCN), and is characterized by clinical features including fibrofolliculomas, lung cysts and multifocal renal neoplasia.
|
23874397 |
2013 |
|
Fibrofolliculoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
As the mechanisms by which FLCN inactivation leads to BHD manifestations are clarified, we can begin to develop therapeutic agents that target the pathways dysregulated in FLCN-deficient fibrofolliculomas and kidney tumors, providing improved prognosis and quality of life for BHD patients.
|
23108783 |
2013 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene.
|
21781069 |
2011 |
|
Fibrofolliculoma
|
0.200 |
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 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in a tumor suppressor gene FLCN lead to development of fibrofolliculomas, lung cysts and renal cell carcinoma (RCC) in Birt-Hogg-Dubé syndrome.
|
21209915 |
2010 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the FLCN gene are responsible for the development of fibrofolliculomas, lung cysts and renal neoplasia in Birt-Hogg-Dube' (BHD) syndrome.
|
20573232 |
2010 |
|
Fibrofolliculoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The patient also had skin fibrofolliculomas and folliculin gene deletion, compatible with Birt-Hogg-Dube (BHD) syndrome.
|
19659657 |
2009 |
|
Fibrofolliculoma
|
0.200 |
Biomarker
|
disease |
BEFREE |
We further show that LOH cannot be detected in fibrofolliculomas from three patients, suggesting that for the manifestation of cutaneous tumors in BHD syndrome haplo-insufficiency of folliculin is sufficient to initiate uncontrolled growth.
|
17124507 |
2007 |
|
Fibrofolliculoma
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|