Published in Mod Pathol on August 01, 2004
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A (2006) 3.51
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet (2005) 3.26
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The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis. Oncogene (2009) 2.14
Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. Histopathology (2014) 1.73
Deficiency of FLCN in mouse kidney led to development of polycystic kidneys and renal neoplasia. PLoS One (2008) 1.64
Mutations of the Birt Hogg Dube gene in patients with multiple lung cysts and recurrent pneumothorax. J Med Genet (2007) 1.57
A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax. Am J Hum Genet (2005) 1.52
Birt-Hogg-Dube syndrome: clinicopathological features of the lung. J Clin Pathol (2012) 1.37
Folliculin regulates ampk-dependent autophagy and metabolic stress survival. PLoS Genet (2014) 1.00
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Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Genes Chromosomes Cancer (2011) 0.94
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Folliculin mutations are not associated with severe COPD. BMC Med Genet (2008) 0.85
The Birt-Hogg-Dubé tumor suppressor Folliculin negatively regulates ribosomal RNA synthesis. Hum Mol Genet (2012) 0.81
Distinctive expression patterns of glycoprotein non-metastatic B and folliculin in renal tumors in patients with Birt-Hogg-Dubé syndrome. Cancer Sci (2015) 0.79
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Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression. Oncotarget (2015) 0.77
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Haploinsufficiency of the folliculin gene leads to impaired functions of lung fibroblasts in patients with Birt-Hogg-Dubé syndrome. Physiol Rep (2016) 0.75
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Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report. BMC Med Genet (2016) 0.75
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Topographical and temporal diversity of the human skin microbiome. Science (2009) 15.96
STAT3 mutations in the hyper-IgE syndrome. N Engl J Med (2007) 8.99
A diversity profile of the human skin microbiota. Genome Res (2008) 7.65
Reductive carboxylation supports growth in tumour cells with defective mitochondria. Nature (2011) 6.57
von Hippel-Lindau disease. Lancet (2003) 6.20
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med (2006) 6.17
Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet (2011) 5.73
Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. N Engl J Med (2015) 5.66
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell (2005) 5.47
Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med (2008) 5.34
gp100 peptide vaccine and interleukin-2 in patients with advanced melanoma. N Engl J Med (2011) 5.15
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. Cancer Cell (2002) 5.10
The genetic basis of kidney cancer: a metabolic disease. Nat Rev Urol (2010) 5.04
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med (2009) 4.97
Biochemical diagnosis of pheochromocytoma: which test is best? JAMA (2002) 4.84
Magnetic resonance imaging/ultrasound-fusion biopsy significantly upgrades prostate cancer versus systematic 12-core transrectal ultrasound biopsy. Eur Urol (2013) 4.64
Post-analysis follow-up and validation of microarray experiments. Nat Genet (2002) 4.61
Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med (2009) 4.52
Serum proteomic patterns for detection of prostate cancer. J Natl Cancer Inst (2002) 4.50
Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med (2003) 4.46
The contribution of VHL substrate binding and HIF1-alpha to the phenotype of VHL loss in renal cell carcinoma. Cancer Cell (2002) 4.13
Measuring therapeutic response in chronic graft-versus-host disease: National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: IV. Response Criteria Working Group report. Biol Blood Marrow Transplant (2006) 4.09
Improved identification of von Hippel-Lindau gene alterations in clear cell renal tumors. Clin Cancer Res (2008) 4.02
Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat Genet (2013) 3.87
Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis. Genome Res (2012) 3.71
Mistaken identifiers: gene name errors can be introduced inadvertently when using Excel in bioinformatics. BMC Bioinformatics (2004) 3.65
Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc Natl Acad Sci U S A (2006) 3.51
The genetic basis of cancer of the kidney. J Urol (2003) 3.45
Randomized study of high-dose and low-dose interleukin-2 in patients with metastatic renal cancer. J Clin Oncol (2003) 3.38
Diagnostic terminology and morphologic criteria for cytologic diagnosis of thyroid lesions: a synopsis of the National Cancer Institute Thyroid Fine-Needle Aspiration State of the Science Conference. Diagn Cytopathol (2008) 3.30
T cells targeting carcinoembryonic antigen can mediate regression of metastatic colorectal cancer but induce severe transient colitis. Mol Ther (2010) 3.29
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. Am J Hum Genet (2005) 3.26
Protein oxidation implicated as the primary determinant of bacterial radioresistance. PLoS Biol (2007) 3.22
Patterns of gene expression and copy-number alterations in von-hippel lindau disease-associated and sporadic clear cell carcinoma of the kidney. Cancer Res (2009) 3.17
Randomized phase II trial of docetaxel plus thalidomide in androgen-independent prostate cancer. J Clin Oncol (2004) 3.16
Prostate cancer: value of multiparametric MR imaging at 3 T for detection--histopathologic correlation. Radiology (2010) 3.12
Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. Cancer Epidemiol Biomarkers Prev (2002) 3.12
Robotic partial nephrectomy for complex renal tumors: surgical technique. Eur Urol (2007) 3.07
Renal tumors in the Birt-Hogg-Dubé syndrome. Am J Surg Pathol (2002) 3.06
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N Engl J Med (2015) 3.00
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood (2009) 3.00
Racial disparity in renal cell carcinoma patient survival according to demographic and clinical characteristics. Cancer (2012) 2.95
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet (2003) 2.88
Can magnetic resonance-ultrasound fusion biopsy improve cancer detection in enlarged prostates? J Urol (2013) 2.81
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. Nat Genet (2012) 2.71
High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dubé-associated renal tumors. J Natl Cancer Inst (2005) 2.70
Antigen spreading contributes to MAGE vaccination-induced regression of melanoma metastases. Cancer Res (2011) 2.63
Utility of multiparametric magnetic resonance imaging suspicion levels for detecting prostate cancer. J Urol (2013) 2.62
Phase II and biomarker study of the dual MET/VEGFR2 inhibitor foretinib in patients with papillary renal cell carcinoma. J Clin Oncol (2012) 2.61
Medroxyprogesterone acetate elevation of Nm23-H1 metastasis suppressor expression in hormone receptor-negative breast cancer. J Natl Cancer Inst (2005) 2.60
Correlation of magnetic resonance imaging tumor volume with histopathology. J Urol (2012) 2.55
LDH-A inhibition, a therapeutic strategy for treatment of hereditary leiomyomatosis and renal cell cancer. Mol Cancer Ther (2009) 2.43
11C-Acetate PET/CT in localized prostate cancer: a study with MRI and histopathologic correlation. J Nucl Med (2012) 2.42
Evaluation of non-formalin tissue fixation for molecular profiling studies. Am J Pathol (2002) 2.38
Is apparent diffusion coefficient associated with clinical risk scores for prostate cancers that are visible on 3-T MR images? Radiology (2010) 2.38
Prostate cancer: can multiparametric MR imaging help identify patients who are candidates for active surveillance? Radiology (2013) 2.35
Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. J Urol (2005) 2.33
The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease. J Urol (2004) 2.32
The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours. Nature (2005) 2.29
Homozygous loss of BHD causes early embryonic lethality and kidney tumor development with activation of mTORC1 and mTORC2. Proc Natl Acad Sci U S A (2009) 2.28