2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 <2009
2022
Martos et al., 2022. Bioinformatics Analysis of Gene Targets for Birt-Hogg-Dube Syndrome Associated with Renal Cell Cancer using NetworkAnalyst
Hambly et al., 2022. Novel folliculin gene mutation and an elevated serum vascular endothelial growth factor-D level in the context of cystic lung disease
2021
Paquette et al., 2021. AMPK-dependent phosphorylation is required for transcriptional activation of TFEB and TFE3. [PMID: 33734022]
Glykofridis et al., 2021. Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells. [Open Access PDF] [PMID: 33459596]
Reyes et al., 2021. Folliculin: A Regulator of Transcription Through AMPK and mTOR Signaling Pathways. [Open Access PDF] [PMID: 33981707]
Şimşek et al., 2021. Birt Hogg Dube syndrome: Rare family lung disease. [PMID: 33853312]
Radzikowska et al., 2021. Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome. [Open Access PDF] [PMID: 34229741]
Xiao et al,. 2021. AMPK-dependent and -independent coordination of mitochondrial function and muscle fiber type by FNIP1. [Open Access PDF] [PMID: 33780446]
Cai et al., 2021. A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review. [PMID: 33927747]
Nawrotek., 2021. New structures of mTORC1: Focus on Rag GTPases. [Open Access PDF] [PMID: 33908855]
Wang X et al,. 2021. FLCN regulates transferrin receptor 1 transport and iron homeostasis. [Open Access PDF] [PMID: 33609526]
Zhao, Y et al,. 2021. Advances in the Role of Leucine-Sensing in the Regulation of Protein Synthesis in Aging Skeletal Muscle. [Open Access PDF] [PMID: 33869199]
Ko E et al,. 2021. Generation of the human induced pluripotent stem cell lines (CMCi009-A) from a patient with Birt-Hogg-Dubé syndrome (BHD) with heterozygous frameshift deletion mutation c.1285delC of the FLCN gene [Open Access PDF] [PMID: 33540282]
Okamoto, S et al,. 2021. Folliculin haploinsufficiency causes cellular dysfunction of pleural mesothelial cells. [Open Access PDF] [PMID: 34031471]
Hubert, J et al,. 2021. The pi3k/mtor pathway is targeted by rare germline variants in patients with both melanoma and renal cell carcinoma. [Open Access PDF] [PMID: 34067022]
Muller, M et al,. 2021. Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem. [Open Access PDF] [PMID: 33987191]
2020
Daccord, C et al,. 2020. Birt–hogg–dubé syndrome. [Open Access PDF] [PMID: 32943413]
De Zan, E et al,. 2020. Quantitative genetic screening reveals a Ragulator-FLCN feedback loop that regulates the mTORC1 pathway. [PMID: 32934076 ]
Tai-Nagara et al., 2020. Blood and lymphatic systems are segregated by the FLCN tumor suppressor. [Open Access PDF] [PMID: 33298956]
Clausen et al., 2020. Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation. [Open Access PDF] [PMID: 33137092]
Zhang et al., 2020. Ciliary localization of folliculin mediated via a kinesin-2-binding motif is required for its functions in mTOR regulation and tumor suppression. [PMID: 33064845]
Zhao et al., 2020. FLCN Regulates HIF2α Nuclear Import and Proliferation of Clear Cell Renal Cell Carcinoma. [Open Access PDF] [PMID: 32850947]
Napolitano et al., 2020. A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome. [PMID: 32612235]
Woodford et al., 2020. The Role of Heat Shock Protein-90 in the Pathogenesis of Birt-Hogg-Dubé and Tuberous Sclerosis Complex Syndromes. [PMID: 32327294]
Chu et al., 2020. Mesenchymal folliculin is required for alveolar development: implications for cystic lung disease in Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 32238524]
Garrido et al., 2020. Nutrient Signaling and Lysosome Positioning Crosstalk Through a Multifunctional Protein, Folliculin. [Open Access PDF] [PMID: 32195250]
Min et al., 2020. FLCN-regulated miRNAs suppressed reparative response in cells and pulmonary lesions of Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 32184379]
Endoh et al., 2020. A FLCN-TFE3 Feedback Loop Prevents Excessive Glycogenesis and Phagocyte Activation by Regulating Lysosome Activity. [Open Access PDF] [PMID: 32049013]
2019
Isono et al., 2019. FLCN alteration drives metabolic reprogramming towards nucleotide synthesis and cyst formation in salivary gland. [PMID: 31806376]
Shen et al., 2019. Cryo-EM Structure of the Human FLCN-FNIP2-Rag-Ragulator Complex. [Open Access PDF] [PMID: 31704029]
Lawrence et al., 2019. Structural mechanism of a Rag GTPase activation checkpoint by the lysosomal folliculin complex. [Open Access PDF] [PMID: 31672913]
Kennedy et al., 2019. Loss of FLCN inhibits canonical WNT signaling via TFE3. [Open Access PDF] [PMID: 31272105]
El-Houjeiri et al., 2019. The Transcription Factors TFEB and TFE3 Link the FLCN-AMPK Signaling Axis to Innate Immune Response and Pathogen Resistance. [Open Access PDF] [PMID: 30917316]
Boone et al., 2019. The Genetics of Pneumothorax. [Open Access PDF] [PMID: 30681372]
Sardiña et al., 2019. Differential expression of phospho-S6 in hair follicle tumors: Evidence of mammalian target of rapamycin pathway activation. [PMID: 30632192]
2018
Leem J et al, . 2018. Birt-Hogg-Dubé syndrome in Korean: Clinicora-diologic features and long term follow-up. [Open Access PDF] [PMID: 30360018]
Centini et al., 2018. Loss of Fnip1 alters kidney developmental transcriptional program and synergizes with TSC1 loss to promote mTORC1 activation and renal cyst formation. [Open Access PDF] [PMID: 29897930]
Hasumi et al., 2018. BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes. [Open Access PDF] [PMID: 29767721]
Furuya et al., 2018 Splice-site mutation causing partial retention of intron in the FLCN gene in BirtHogg-Dubé syndrome: a case report. [Open Access PDF] [PMID: 29720200]
2017
Zheng et al., 2017. Folliculin Interacts with Rab35 to Regulate EGF-Induced EGFR Degradation. [Open Access PDF] [PMID: 29018350]
Schmidt et al., 2017. FLCN: The causative gene for Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 28970150]
Laviolette et al., 2017. Negative regulation of EGFR signalling by the human folliculin tumour suppressor protein. [Open Access PDF] [PMID: 28656962]
Bartram et al., 2017. Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer. [Open Access PDF] [PMID: 28499369]
2016
Nagashima et al., 2016. Nutrient-induced FNIP degradation by SCFβ-TRCP regulates FLCN complex localization and promotes renal cancer progression. [Open Access PDF] [PMID: 28039480]
Hasumi et al., 2016. H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation. [PMID: 28007907]
Furuya et al., 2016. Establishment and characterization of BHD-F59RSVT, an immortalized cell line derived from a renal cell carcinoma in a patient with Birt-Hogg-Dubé syndrome. [PMID: 27991910]
Wada et al., 2016. The tumor suppressor FLCN mediates an alternate mTOR pathway to regulate browning of adipose tissue. [PMID: 27913603]
Schmidt et al., 2016. Genetic predisposition to kidney cancer. [PMID: 27899189]
Hoshika et al., 2016. Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt–Hogg–Dubé syndrome. [Open Access PDF] [PMID: 27905298]
Amick et al., 2016. C9orf72 binds SMCR8, localizes to lysosomes and regulates mTORC1 signaling. [Open Access PDF] [PMID: 27559131]
Liu et al., 2016. Coupling of mitochondrial function and skeletal muscle fiber type by a miR-499/Fnip1/AMPK circuit. [Open Access PDF] [PMID: 27506764]
Verma et al., 2016. Mutations induce conformational changes in folliculin C-terminal domain: possible cause of loss of guanineexchange factor activity and Birt-Hogg-Dubé syndrome. [PMID: 27484154]
Kenyon et al., 2016. Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis. [Open Access PDF] [PMID: 27391801]
Woodford et al., 2016. The FNIP co-chaperones decelerate the Hsp90 chaperone cycle and enhance drug binding. [Open Access PDF] [PMID: 27353360]
Dodding, 2016. Folliculin – a tumour suppressor at the intersection of metabolic signaling and membrane traffic. [PMID: 27355777]
Siggs et al., 2016. Mutation of Fnip1 is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity. [PMID: 27303042]
Wu et al., 2016. FLCN Maintains the Leucine Level in Lysosome to Stimulate mTORC1. [Open Access PDF] [PMID: 27280402]
Yan et al., 2016. Chronic AMPK activation via loss of FLCN induces functional beige adipose tissue through PGC-1α/ERRα. [PMID: 27151976]
Zhong et al., 2016. Tumor Suppressor Folliculin Regulates mTORC1 through Primary Cilia. [PMID: 27072130]
Starling et al., 2016. Folliculin directs the formation of a Rab34-RILP complex to control the nutrient-dependent dynamic distribution of lysosomes. [Open Access PDF] [PMID: 27113757]
Baba et al., 2016. Loss of Folliculin Disrupts Hematopoietic Stem Cell Quiescence and Homeostasis Resulting in Bone Marrow Failure. [PMID: 27095138]
Bratslavsky et al., 2016. Sixth BHD Symposium and First International Upstate Kidney Cancer Symposium: latest scientific and clinical discoveries. [Open Access PDF] [PMID: 26933819]
Iribe et al., 2016. Genome-Wide Uniparental Disomy and Copy Number Variations in Renal Cell Carcinomas Associated with Birt-Hogg-Dubé Syndrome. [PMID: 26776076]
Kennedy et al., 2016. Mechanisms of Pulmonary Cyst Pathogenesis in Birt-Hogg-Dube Syndrome: The Stretch Hypothesis. [PMID: 26877139]
2015
Chen et al., 2015. Disruption of tubular FLCN expression as a mouse model for renal tumor induction. [PMID: 26083655]
Ding et al., 2015. Promoter methylation is not associated with FLCN irregulation in lung cyst lesions of primary spontaneous pneumothorax. [PMID: 26398834]
Hasumi et al., 2015. Folliculin-interacting proteins Fnip1 and Fnip2 play critical roles in kidney tumor suppression in cooperation with Flcn. [Open Access PDF] [PMID: 25775561]
Reyes et al., 2015. Fnip1 regulates skeletal muscle fiber typespecification, fatigue resistance, and susceptibilityto muscular dystrophy. [Open Access PDF] [PMID: 25548157]
Park & Adams, 2015. Analysis of Birt-Hogg-Dubé Syndrome. [PDF]
Péli-Gulli et al., 2015. Amino Acids Stimulate TORC1 through Lst4-Lst7, a GTPase-Activating Protein Complex for the Rag Family GTPase Gtr2. [Open Access PDF] [PMID: 26387955]
Pacitto et al., 2015. Lst4, the yeast Fnip1/2 orthologue, is a DENN-family protein. [Open Access PDF] [PMID: 26631379]
Possik et al., 2015. FLCN and AMPK Confer Resistance to Hyperosmotic Stress via Remodeling of Glycogen Stores. [Open Access PDF][PMID: 6439621 ]
Wu et al., 2015. Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression. [Open Access PDF] [PMID: 26418749]
Xia et al., 2015. Folliculin, a tumor suppressor associated with Birt-Hogg-Dubé (BHD) syndrome, is a novel modifier of TDP-43 cytoplasmic translocation and aggregation. [PMID: 26516189]
2014
Goncharova et al., 2014. Folliculin Controls Lung Alveolar Enlargement and Epithelial Cell Survival through E-Cadherin, LKB1 and AMPK. [Open Access PDF] [PMID: 24726356]
Khabibullin et al., 2014. Folliculin regulates cell-cell adhesion, AMPK, and mTORC1 in a cell-type-specific manner in lung-derived cells. [Open Access PDF] [PMID: 25121506]
Possik et al., 2014. Folliculin regulates ampk-dependent autophagy and metabolic stress survival. [Open Access PDF] [PMID: 24763318]
Yan et al., 2014. The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation. [Open Access PDF] [PMID: 24762438]
2013
Bastola et al., 2013. Folliculin Contributes to VHL Tumor Suppressing Activity in Renal Cancer through Regulation of Autophagy. [Open Access PDF] [PMID: 23922894]
Betschinger et al., 2013. Exit from pluripotency is gated by intracellular redistribution of the bHLH transcription factor Tfe3. [Open Access PDF] [PMID: 23582324]
Laviolette et al., 2013. Human folliculin delays cell cycle progression through late S and G2/M-phases: effect of phosphorylation and tumor associated mutations. [Open Access PDF] [PMID: 23874397]
Liu et al., 2013. Genetic characterization of the Drosophila birt-hogg-dubé syndrome gene. [Open Access PDF] [PMID: 23799055]
Luijten et al., 2013. Birt–Hogg–Dubé syndrome is a novel ciliopathy. [Open Access PDF] [PMID: 23784378]
Wong and Harbottle, 2013. Genetic modification of dividing cells using episomally maintained S/MAR DNA vectors. [Open Access PDF] [PMID: 23941867]
Zhang et al., 2013. Suppression of autophagy enhances preferential toxicity of paclitaxel to folliculin-deficient renal cancer cells. [Open Access PDF] [PMID: 24305604]
2012
Baba et al., 2012. The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development. [Open Access PDF] [PMID: 22709692]
Medvetz et al., 2012. Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion. [Open Access PDF] [PMID: 23139756]
Nahorski et al., 2012. Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis. [Open Access PDF] [PMID: 22965878]
Nookala et al., 2012. Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. [Open Access PDF] [PMID: 22977732]
Park et al., 2012. Disruption of Fnip1 reveals a metabolic checkpoint controlling B lymphocyte development. [Open Access PDF] [PMID: 22608497]
Zhang et al., 2012. Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease. [Open Access PDF] [PMID: 23248642]
2011
Cash et al., 2011. Loss of the Birt-Hogg-Dubé tumor suppressor results in apoptotic resistance due to aberrant TGFβ-mediated transcription. [Open Access PDF] [PMID: 21258407]
Danielsen et al., 2011. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. [Open Access PDF] [PMID: 21139048]
Dodding et al., 2011. A kinesin-1 binding motif in vaccinia virus that is widespread throughout the human genome. [Open Access PDF] [PMID: 21915095]
Lu X et al., 2011. Therapeutic targeting the loss of the birt-hogg-dube suppressor gene. [Open Access PDF] [PMID: 21220493]
Pena-Llopis et al., 2011. Regulation of TFEB and V-ATPases by mTORC1. [Open Access PDF] [PMID: 21804531]
Wagner et al., 2011. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. [Open Access PDF] [PMID: 21890473]
Yu et al., 2011. Phosphoproteomic analysis identifies Grb10 as an mTORC1 substrate that negatively regulates insulin signaling. [Open Access PDF] [PMID: 21659605]
2010
Behrends et al., 2010. Network organization of the human autophagy system. [Open Access PDF] [PMID: 20562859]
Hong et al., 2010a. Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling. [Open Access PDF] [PMID: 20573232]
Hong et al., 2010b. Inactivation of the FLCN tumor suppressor gene induces TFE3 transcriptional activity by increasing its nuclear localization. [Open Access PDF] [PMID: 21209915]
Klomp et al., 2010. Birt-Hogg-Dubé renal tumors are genetically distinct from other renal neoplasias and are associated with up-regulation of mitochondrial gene expression. [Open Access PDF] [PMID: 21162720]
Lim et al., 2010. A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene. [Open Access PDF] [PMID: 19802896]
Wang et al., 2010. Serine 62 is a phosphorylation site in folliculin, the Birt-Hogg-Dubé gene product. [Open Access PDF] [PMID: 19914239]
2009
Menko, F et al,. 2009. Birt-Hogg-Dubé syndrome: diagnosis and management. [PMID: 19959076]
Hartman et al., 2009. The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. [Open Access PDF] [PMID: 19234517]
Hasumi et al., 2009. Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. [Open Access PDF] [PMID: 19850877]
Singh and Hou, 2009. Multipotent stem cells in the Malpighian tubules of adult Drosophila melanogaster. [Open Access PDF] [PMID: 19151216]
Wei et al., 2009. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome. [Open Access PDF] [PMID: 19562744]
2008
Baba et al., 2008. Kidney-targeted Birt-Hogg-Dube gene inactivation in a mouse model: Erk1/2 and Akt-mTOR activation, cell hyperproliferation, and polycystic kidneys. [Open Access PDF] [PMID: 18182616]
Chen et al., 2008. Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. [Open Access PDF] [PMID: 18974783]
Dephoure et al., 2008. A quantitative atlas of mitotic phosphorylation. [Open Access PDF][PMID: 18669648]
Hasumi et al., 2008. Identification and characterization of a novel folliculin-interacting protein FNIP2. [Open Access PDF] [PMID: 18403135]
Takagi et al., 2008. Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL/Fnip2) protein. [Open Access PDF] [PMID: 18663353]
Yang et al., 2008. The UOK 257 cell line: a novel model for studies of the human Birt-Hogg-Dubé gene pathway. [Open Access PDF] [PMID: 18206534]
2007
van Slegtenhorst et al., 2007. The Birt-Hogg-Dube and tuberous sclerosis complex homologs have opposing roles in amino acid homeostasis in Schizosaccharomyces pombe. [Open Access PDF] [PMID: 17556368]
2006
Baba et al., 2006. Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. [Open Access PDF] [PMID: 17028174]
Singh et al., 2006. The Drosophila homolog of the human tumor suppressor gene BHD interacts with the JAK-STAT and Dpp signaling pathways in regulating male germline stem cell maintenance. [Open Access PDF] [PMID: 16636660]
Togashi et al., 2006. Transgenic rescue from embryonic lethality and renal carcinogenesis in the Nihon rat model by introduction of a wild-type Bhd gene. [Open Access PDF] [PMID: 16369488]
2005
Welsch, M et al,. 2005. Birt-Hogg-Dube syndrome. [PMID: 16101870]
2004
Okimoto et al., 2004. A germ-line insertion in the Birt-Hogg-Dubé (BHD) gene gives rise to the Nihon rat model of inherited renal cancer. [Open Access PDF] [PMID: 14769940]
Warren et al., 2004. Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues. [Open Access PDF] [PMID: 15143337]
2003
Lingaas et al., 2003. A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog. [Open Access PDF] [PMID: 14532326]
1997
Roberg et al., 1997. Control of amino acid permease sorting in the late secretory pathway of Saccharomyces cerevisiae by SEC13, LST4, LST7 and LST8. [Open Access PDF] [PMID: 9409822]
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