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UnknownComedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome.
Not available
S-EPMC7701978 | biostudies-literature
TranscriptomicsThe Folliculin-Fnip1 pathway deleted in human Birt-Hogg-Dube syndrome is required for B cell development.
Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disorder characterized by hamartomas of skin follicles, cystic lung disease, and renal neoplasia. Affected individuals carry heterozygous mutations in Folliculin (FLCN), a tumor suppressor gene that becomes biallelically inactivated in kidney t...
ORGANISM(S): Mus musculus 
2012-06-16 | E-GEOD-38741 | biostudies-arrayexpress
TranscriptomicsGene expression data from FLCN-restored UOK257-2 renal cancer cells
UOK257 cell line was derived from a BHD patient. It harbors a germline mutation in FLCN (c.1285dupC) and LOH. UOK257-2 cells were generated from UOK257 cells by introducing wildtype FLCN using retrovirus. FLCN inactivation induces TFE3 transcriptional activity by increasing its nuclear localization....
ORGANISM(S): Homo sapiens 
2010-10-11 | E-GEOD-23614 | biostudies-arrayexpress
TranscriptomicsGene expression profiling of BHDS-associated renal tumors
Renal tumors that arise in individuals with BHD Syndrome represent a molecularly distinct form of renal cancer. In addition, BHD syndrome is due to a mutation the folliculin gene (FLCN). While the folliculin gene is an important tumor suppressor gene, the molecular function of this gene is not well...
ORGANISM(S): Homo sapiens 
2010-12-21 | E-GEOD-21816 | biostudies-arrayexpress
UnknownDevelopment and validation of interpretability cutoffs for the short forms of the Brain Injury Rehabilitation Trust Personality Questionnaires (BIRT-PQs).
Not available
S-EPMC12833768 | biostudies-literature
TranscriptomicsExpression data from LPS-stimulated RAW 264.7 mouse macrophages treated with Hypericum perforatum fraction and bioactive constituents
Hypericum perforatum extracts have been used as dietary supplements to treat conditions including mild-moderate depression and inflammation. A group of four bioactive constituents were identified from an active fraction of the extract. In order to identify the mechanism for the potential anti-inflam...
ORGANISM(S): Mus musculus 
2010-05-28 | E-GEOD-21841 | biostudies-arrayexpress
UnknownFolliculin variants linked to Birt-Hogg-Dube syndrome are targeted for proteasomal degradation.
Not available
S-EPMC7660926 | biostudies-literature
UnknownClinical and genetic investigations of five Chinese families with Birt-Hogg-Dube syndrome: a long-term follow-up study.
Not available
S-EPMC12452094 | biostudies-literature
UnknownBirt-Hogg-Dube syndrome encountered at rare lung disease clinic in Anhui province, China.
Not available
S-EPMC9112470 | biostudies-literature
UnknownDetection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome.
Not available
S-EPMC5529666 | biostudies-literature
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