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Results show that zebrafish flcn is expressed during embryonic development with elevated expression levels in proliferating tissues of the zebrafish embryo.
Based on the phenotypes of our preclinical models, the FLCN H255Y mutant protein has lost it tumour suppressive function leading to the clinical manifestations of BHD, whereas the FLCN K508R mutant protein may have a dominant negative effect on the function of wild-type FLCN in regulating kidney cell proliferation and, therefore, act as an oncoprotein
FLCN regulates adipose tissue browning via mTOR (show FRAP1 ELISA Kits) and the transcription factor TFE3 (show TFE3 ELISA Kits)
loss of FLCN results in a complete metabolic reprogramming of adipose tissues, resulting in enhanced oxidative metabolism.
Tfe3 (show TFE3 ELISA Kits) overexpression in HSPCs impaired long-term hematopoietic reconstitution in vivo, recapitulating the Flcn KO phenotype, and supporting the notion that abnormal activation of Tfe3 (show TFE3 ELISA Kits) contributes to the Flcn KO phenotype. Flcn KO mice develop an acute histiocytic hyperplasia in multiple organs, suggesting a novel function for Flcn in macrophage development
mTOR (show FRAP1 ELISA Kits) inhibitor, sirolimus, suppresses the tumor's growth, suggesting that mTOR (show FRAP1 ELISA Kits) inhibitors might be effective in control of FLCN-deficient RCC (show XRCC1 ELISA Kits).
we show that glycogen (show GYS1 ELISA Kits) accumulates in kidneys from mice lacking FLCN and in renal tumors from a BHD patient
Fnip1 (show FNIP1 ELISA Kits) and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn
Folliculin (Flcn) inactivation leads to murine cardiac hypertrophy through mTORC1 deregulation.
The FLCN-GABARAP (show GABARAP ELISA Kits) association is modulated by the presence of either folliculin-interacting protein (FNIP)-1 (show FNIP1 ELISA Kits) or FNIP2 and further regulated by ULK1 (show ULK1 ELISA Kits).
Flcn regulates apoptosis in lung epithelium via E-cadherin (show CDH1 ELISA Kits)-LKB1 (show STK11 ELISA Kits)-AMPK (show PRKAA1 ELISA Kits) axis.
Seventy-six of 156 FLCN mutation carriers (120 probands and 36 sibs, 48.7%) had skin papules; however, cutaneous manifestations were so subtle that only one patient voluntarily consulted dermatologists. Japanese Asian BHD families have three FLCN mutational hotspots.
A nonsense mutation of FLCN was found in a spontaneous pneumothorax family. The results expand the mutational spectrum of FLCN in patients with Birt-Hogg-Dube syndrome.
the study describes the FLCN mutation spectrum in Danish Birt-Hogg-Dube (BHD) syndrome patients, and contributes to a better understanding of BHD syndrome and management of BHD patients.
We report Smith-Magenis syndrome who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region
For patients whose clinical features are atypical, detection of germline mutation in FLCN gene would help confirm diagnosis. The 2 mutations we reported would expand the mutation spectrum of FLCN gene associated with BHD syndrome
DNA sequence analyses determined that there was a two base pair deletion in exon 4 of the FLCN gene, confirming the diagnosis of BHD syndrome.
We identified a hitherto unreported pathogenic FLCN frameshift deletion c.563delT (p.Phe188Serfs*35) in a family of a 46-year-old woman presented with macrohematuria due to bilateral chromophobe renal carcinomas
FLCN irregulation in lung cysts of primary spontaneous pneumothorax is not associated with promoter methylation.
This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms.
, birt-Hogg-Dube syndrome protein homolog
, BHD skin lesion fibrofolliculoma protein
, birt-Hogg-Dube syndrome protein