|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our results expand the mutational spectrum of FLCN in patients with BHDS.
|
27486260 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FLCN mutations can be detected in patients with isolated primary spontaneous pneumothorax (PSP), so PSP may present as part of BHDS.
|
28805452 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Multiple chromophobe and clear cell renal cancer in a patient affected by Birt-Hogg-Dubè syndrome: a case report.
|
28009417 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.
|
28499369 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Birt-Hogg-Dubé (BHD) syndrome is a very rare autosomal dominant form of genodermatosis caused by germline mutations in the folliculin (FLCN) gene, which is mapped to the p11.2 region in chromosome 17.
|
28222720 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations.
|
28558743 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All patients were found to have FLCN germline mutations; thus their repeated pneumothoraces were a manifestation of BHD.
|
26073198 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN).
|
27991910 |
2017 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Folliculin (FLCN) is a tumor-suppressor protein mutated in the Birt-Hogg-Dubé (BHD) syndrome, which associates with two paralogous proteins, folliculin-interacting protein (FNIP)1 and FNIP2, forming a complex that interacts with the AMP-activated protein kinase (AMPK).
|
27303042 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathology reports showed that the patients had lymph node metastasis in spite of small size of thyroid lesions.The 2 missense mutations, not reported previously, expand the mutation spectrum of FLCN gene associated with BHD syndrome.
|
27258496 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé syndrome (BHD) is a familial disorder associated with a germline mutation of FLCN that is a tumor suppressor gene.
|
26980015 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.
|
27356891 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt-Hogg-Dubé syndrome.
|
27220747 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
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 |
|
Multiple fibrofolliculomas
|
1.000 |
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 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanistic target of rapamycin (mTOR) signaling pathway regulating cell growth and metabolism.
|
27871249 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
Our study indicates that BHD and FLCN testing should be routinely considered in patients with positive family or personal history of renal tumours.
|
26342594 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial pneumothoraces: Birt-Hogg-Dubé syndrome.
|
27906882 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Renal angiomyolipoma in Birt-Hogg-Dube syndrome: A case study supporting overlap with tuberous sclerosis complex.
|
27643397 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
BEFREE |
Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors.
|
27633572 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
An 18-year-old man with recurrent pneumothorax since he was 10-year-old.
|
27257988 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Primary spontaneous pneumothorax (PSP) or pulmonary cysts is one of the manifestations of Birt-Hogg-Dube syndrome (BHDS) that is caused by heterozygous mutations in FLCN gene.
|
27229674 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Birt-Hogg-Dubé syndrome: a large single family cohort.
|
26928018 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We compared the radiological findings in the FLCN negative patients to those in 4 known BHD patients and found multiple basal lung cysts were present significantly more frequent in FLCN mutation carriers and may be an indication for BHD syndrome in apparent sporadic RCC patients.
|
26603437 |
2016 |
|
Multiple fibrofolliculomas
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Birt-Hogg-Dubé Syndrome Presenting as a Nevus Comedonicus-Like Lesion in an 8-Year-Old Boy.
|
27470329 |
2016 |