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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Folliculin

folliculin, BHD, FLCN
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, mTOR, XRCC1, AGE
Papers using folliculin antibodies
A rapid micropreparation technique for extraction of DNA-binding proteins from limiting numbers of mammalian cells.
Supplier
Bryk Mary, In PLoS ONE, 1990
... Human FLCN siRNA (siFLCN1, Thermo Scientific, J-009998-05-0005); Non-targeting siRNA pool ...
Papers on folliculin
Genome-Wide Uniparental Disomy and Copy Number Variations in Renal Cell Carcinomas Associated with Birt-Hogg-Dubé Syndrome.
New
Furuya et al., Yokohama, Japan. In Am J Pathol, Feb 2016
Birt-Hogg-Dubé syndrome is an inherited disorder caused by germline mutations of the folliculin gene (FLCN).
Folliculin, a tumor suppressor associated with Birt-Hogg-Dubé (BHD) syndrome, is a novel modifier of TDP-43 cytoplasmic translocation and aggregation.
New
Ying et al., Suzhou, China. In Hum Mol Genet, Feb 2016
Here, we show that the tumor suppressor folliculin (FLCN) is a novel positive regulator of TDP-43 cytoplasmic translocation.
Lst4, the yeast Fnip1/2 orthologue, is a DENN-family protein.
New
Blundell et al., Villejuif, France. In Open Biol, Dec 2015
The folliculin/Fnip complex has been demonstrated to play a crucial role in the mechanisms underlying Birt-Hogg-Dubé (BHD) syndrome, a rare inherited cancer syndrome.
Multiple cystic lung disease.
New
Marchiori et al., Rio de Janeiro, Brazil. In Eur Respir Rev, Dec 2015
The main diseases in this group that are discussed in this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis and folliculin gene-associated syndrome (Birt-Hogg-Dubé); other rare causes of cystic lung disease, including cystic metastasis of sarcoma, are also discussed.
Birt-Hogg-Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome.
Review
New
Yao et al., Yokohama, Japan. In Int J Urol, Dec 2015
The folliculin gene (FLCN) that is responsible for Birt-Hogg-Dubé syndrome was isolated as a novel tumor suppressor for kidney cancer.
Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.
Review
New
Linehan et al., Bethesda, United States. In Nat Rev Urol, Oct 2015
Germline mutations in the FLCN gene on chromosome 17 are responsible for BHD syndrome--BHD-associated renal tumours display inactivation of the wild-type FLCN allele by somatic mutation or chromosomal loss, confirming that FLCN is a tumour suppressor gene that fits the classic two-hit model.
[Prevention and Treatment of Atherosclerosis by Three Different Chinese Medical Compounds: a Mechanism Study].
New
Jiang et al., In Zhongguo Zhong Xi Yi Jie He Za Zhi, Oct 2015
OBJECTIVE: To study the effect of Buyang Huanwu Decoction (BHD), Xuefu Zhuyu Decoction (XZD), and Sijunzi Decoction (SD) contained serums on expressions of Toll-like receptor 4 (TLR4)/nuclear factor (NF)-κB signals, lectin-like oxidized low-density lipoprotein receptor-1 (LOX-1), tumor necrosis factor-α (TNF-α), vascular cell adhesion molecule-1 (VCAM-1), intercellular adhesion molecule-1 (ICAM-1), and to explore possible anti-atherosclerotic mechanisms.
Birt-Hogg-Dubé syndrome. State-of-the-art review with emphasis on pulmonary involvement.
Review
New
Marchiori et al., Rio de Janeiro, Brazil. In Respir Med, Mar 2015
The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein.
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
Linehan et al., Bethesda, United States. In Expert Opin Orphan Drugs, 2014
BHD is characterized by germline mutations in tumor suppressor FLCN.
Oncotargets in different renal cancer subtypes.
Review
Mischo et al., Zürich, Switzerland. In Curr Drug Targets, 2014
FLCN, TSC1, TSC2, TFE3, TFEB, MITF, FH, SDHB, SDHD, MET, and PTEN and we review their role in renal tumor carcinogenesis, prognosis, and targeted therapy.
Lymphangioleiomyomatosis: differential diagnosis and optimal management.
Review
Lo et al., Beijing, China. In Ther Clin Risk Manag, 2013
The main differential diagnoses include pulmonary Langerhans' histiocytosis (PLCH), Birt-Hogg-Dubé syndrome (BHD), lymphoid interstitial pneumonia (LIP), and amyloidosis.
Exit from pluripotency is gated by intracellular redistribution of the bHLH transcription factor Tfe3.
Impact
Smith et al., Cambridge, United Kingdom. In Cell, 2013
In a large-scale small interfering RNA (siRNA) screen, we found that knockdown of the tumor suppressors Folliculin (Flcn) and Tsc2 prevent ESC commitment.
The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development.
GeneRIF
Casellas et al., Bethesda, United States. In Blood, 2012
The FLCN-FNIP complex deregulated in Birt-Hogg-Dube syndrome is absolutely required for B-cell differentiation.
Novel in-frame deletion mutation in FLCN gene in a Korean family with recurrent primary spontaneous pneumothorax.
GeneRIF
Lee et al., Seoul, South Korea. In Gene, 2012
Study reports a novel in-frame deletion mutation p.F143del (c.427_429delTTC) in exon 6 of FLCN gene in a Korean proband and her two sisters.
Activation of AMP-activated protein kinase by MAPO1 and FLCN induces apoptosis triggered by alkylated base mismatch in DNA.
GeneRIF
Hidaka et al., Fukuoka, Japan. In Dna Repair (amst), 2012
The involvement of the AMPK-MAPO1-FLCN complex in the signaling pathway of apoptosis, is described.
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
GeneRIF
Menko et al., Amsterdam, Netherlands. In Br J Cancer, 2012
confirmed a high yield of FLCN mutations in clinically defined BHD families, we found a substantially increased lifetime risk of renal cancer of 16% for FLCN mutation carriers
Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
GeneRIF
Maher et al., Birmingham, United Kingdom. In Hum Mutat, 2011
FLCN mutations throughout the coding sequence, and suggest that multiple protein domains contribute to folliculin stability and tumor suppressor activity.
Birt-Hogg-Dubé syndrome: diagnosis and management.
Review
Impact
European BHD Consortium et al., Amsterdam, Netherlands. In Lancet Oncol, 2009
The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway.
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis.
Impact
Eng et al., Columbus, United States. In Jama, 2005
Germline analysis of PTEN, BMPR1A, STK11 (sequence, deletion), SMAD4, and ENG (sequence), specific exon screening of BRAF, MYH, and BHD, and rereview of polyp histology results were performed.
Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.
Impact
GeneRIF
Schmidt et al., Frederick, United States. In Cancer Cell, 2002
Mutations lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dube syndrome
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