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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 (显示 FRAP1 蛋白) and the transcription factor TFE3 (显示 TFE3 蛋白)
loss of FLCN results in a complete metabolic reprogramming of adipose tissues, resulting in enhanced oxidative metabolism.
Tfe3 (显示 TFE3 蛋白) overexpression in HSPCs impaired long-term hematopoietic reconstitution in vivo, recapitulating the Flcn KO phenotype, and supporting the notion that abnormal activation of Tfe3 (显示 TFE3 蛋白) 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 (显示 FRAP1 蛋白) inhibitor, sirolimus, suppresses the tumor's growth, suggesting that mTOR (显示 FRAP1 蛋白) inhibitors might be effective in control of FLCN-deficient RCC (显示 XRCC1 蛋白).
we show that glycogen (显示 GYS1 蛋白) accumulates in kidneys from mice lacking FLCN and in renal tumors from a BHD patient
Fnip1 and Fnip2 (显示 FNIP2 蛋白) 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 (显示 GABARAP 蛋白) association is modulated by the presence of either folliculin-interacting protein (FNIP)-1 or FNIP2 (显示 FNIP2 蛋白) and further regulated by ULK1 (显示 ULK1 蛋白).
Flcn regulates apoptosis in lung epithelium via E-cadherin (显示 CDH1 蛋白)-LKB1 (显示 STK11 蛋白)-AMPK (显示 PRKAA1 蛋白) axis.
The molecular insight into the folliculin dynamics in the presence and absence of mutations may provide valuable information regarding the interactions essential for normal functioning of cellular process and the molecular basis of Birt-Hogg-Dube syndrome
The present identification of two mutations not only further supports the important role of tumor suppressor FLCN in Birt-Hogg-Dube syndrome and primary spontaneous pneumothorax, but also expands the spectrum of FLCN mutations.
In the folliculin gene, a similar genotype spectrum but different mutant loci was determined in Chinese patients with Birt-Hogg-Dube syndrome compared with European and American patients.
SCFbeta-TRCP negatively regulates the FLCN complex by promoting FNIP2 (显示 FNIP2 蛋白) degradation in Birt-Hogg-Dube syndrome-associated renal cancer.
Germline mutations in the FLCN gene are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dube syndrome.
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
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