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1. Full Text Transgenic rescue from embryonic lethality and renal carcinogenesis in the Nihon rat model by introduction of a wild-type Bhd gene
by Togashi, Y and Kobayashi, T and Momose, S and Ueda, M and Okimoto, K and Hino, O
Oncogene, ISSN 0950-9232, 05/2006, Volume 25, Issue 20, pp. 2885 - 2889
We recently reported that a germline insertion of a single nucleotide in the rat homologue of the human Birt - Hogg Dube ' gene ( BHD) gives rise to dominantly... 
Bhd gene | Transgenic rescue | Nihon rat | Renal carcinoma | INSERTION | renal carcinoma | BIOCHEMISTRY & MOLECULAR BIOLOGY | transgenic rescue | DOMINANTLY INHERITED CANCER | TUMORS | EKER RAT | RISE | CELL BIOLOGY | ONCOLOGY | SCLEROSIS TSC2 GENE | PREDISPOSING GENE | GENETICS & HEREDITY | MUTATIONS | CARCINOMA | Gene Targeting | Proteins - physiology | Kidney Neoplasms - genetics | Animals, Genetically Modified | Humans | Carcinoma, Renal Cell - genetics | Rats | Male | Genes, Lethal | Proteins - genetics | Animals | Cell Transformation, Neoplastic - genetics | Neoplasms, Experimental - genetics | Germ-Line Mutation | Female | Embryo Loss - genetics | Disease Models, Animal | Oncology | Kidney diseases | Transgenic animals | Rodents
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2. Full Text Birt-Hogg-Dubé syndrome: diagnosis and management
by Menko, Fred H, Dr and van Steensel, Maurice AM, MD and Giraud, Sophie, MD and Friis-Hansen, Lennart, MD and Richard, Stéphane, Prof and Ungari, Silvana, MD and Nordenskjöld, Magnus, Prof and Hansen, Thomas vO, MSc and Solly, John, PhD and Maher, Eamonn R, Prof and European BHD Consortium
Lancet Oncology, ISSN 1470-2045, 2009, Volume 10, Issue 12, pp. 1199 - 1206
Summary Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous... 
Hematology, Oncology and Palliative Medicine | GERMLINE MUTATION | ONCOLOGY | FAMILIAL SPONTANEOUS PNEUMOTHORAX | MTOR ACTIVATION | NIHON RAT MODEL | BHD GENE | FLCN GENE | RENAL-CELL CARCINOMA | CANCER-RISKS | LUNG CYSTS | MULTIPLE FIBROFOLLICULOMAS | Kidney Neoplasms - genetics | Skin Diseases - therapy | Genetic Testing | Lung Diseases - diagnosis | Skin Diseases - genetics | Humans | Pneumothorax - diagnosis | Proto-Oncogene Proteins - genetics | Lung Diseases - therapy | Syndrome | Kidney Neoplasms - diagnosis | Cysts - therapy | Skin Diseases - diagnosis | Lung Diseases - genetics | Tumor Suppressor Proteins - genetics | Cysts - genetics | Germ-Line Mutation | Pneumothorax - therapy | Pneumothorax - genetics | Cysts - diagnosis | Kidney Neoplasms - therapy
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3. Full Text BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
by Toro, J R and Wei, M-H and Glenn, G M and Weinreich, M and Toure, O and Vocke, C and Turner, M and Choyke, P and Merino, M J and Pinto, P A and Steinberg, S M and Schmidt, L S and Linehan, W M
Journal of Medical Genetics, ISSN 0022-2593, 06/2008, Volume 45, Issue 6, pp. 321 - 331
Background:Birt–Hogg–Dubé syndrome (BHDS) (MIM 135150) is an autosomal dominant predisposition to the development of follicular hamartomas (fibrofolliculomas),... 
SPONTANEOUS PNEUMOTHORAX | GERMAN-SHEPHERD DOG | INTESTINAL POLYPOSIS | KIDNEY NEOPLASIA | GENETICS & HEREDITY | TUMOR-SUPPRESSOR GENE | HEREDITARY LEIOMYOMATOSIS | NIHON RAT MODEL | RENAL-CELL CANCER | NODULAR DERMATOFIBROSIS | LUNG CYSTS | Amino Acid Sequence | Neoplastic Syndromes, Hereditary - pathology | Humans | Molecular Sequence Data | Genotype | Male | Proto-Oncogene Proteins - genetics | Proto-Oncogene Proteins - chemistry | Mutation, Missense - genetics | Phenotype | DNA Mutational Analysis | Pedigree | Base Sequence | Tumor Suppressor Proteins - chemistry | Tumor Suppressor Proteins - genetics | Germ-Line Mutation | Family | Female | Neoplastic Syndromes, Hereditary - genetics | Genetic disorders | Gene mutations | Analysis | Skin diseases | Development and progression | Genetic aspects | Research | Original
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4. Full Text Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome
by Schmidt, Laura S and Nickerson, Michael L and Warren, Michelle B and Glenn, Gladys M and Toro, Jorge R and Merino, Maria J and Turner, Maria L and Choyke, Peter L and Sharma, Nirmala and Peterson, James and Morrison, Patrick and Maher, Eamonn R and Walther, McClellan M and Zbar, Berton and Linehan, W. Marston
The American Journal of Human Genetics, ISSN 0002-9297, 2005, Volume 76, Issue 6, pp. 1023 - 1033
Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), predisposes individuals to an... 
SPONTANEOUS PNEUMOTHORAX | MESSENGER-RNA | GENE | PERIFOLLICULAR FIBROMAS | GERMAN-SHEPHERD DOG | INTESTINAL POLYPOSIS | KIDNEY NEOPLASIA | GENETICS & HEREDITY | NIHON RAT MODEL | RENAL-CELL CARCINOMA | NODULAR DERMATOFIBROSIS | Haplotypes | Kidney Neoplasms - genetics | Genetic Testing | Adenoma, Oxyphilic - pathology | Exons | Humans | Nuclear Family | Adenoma, Oxyphilic - genetics | Male | Patient Selection | Germ-Line Mutation | Female | Proto-Oncogene Proteins | Retrospective Studies | Introns | Gene Frequency | Sequence Analysis, DNA | Syndrome | Proteins - genetics | Phenotype | Pedigree | Heterozygote | Kidney Neoplasms - pathology | Tumor Suppressor Proteins | Cohort Studies | Skin diseases | Research | Skin lesions | Tumors
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5. Full Text The role of the Birt-Hogg-Dubé protein in mTOR activation and renal tumorigenesis
by Hartman, T.R and Nicolas, E and Klein-Szanto, A and Al-Saleem, T and Cash, T.P and Simon, M.C and Henske, E.P
Oncogene, ISSN 0950-9232, 04/2009, Volume 28, Issue 13, pp. 1594 - 1604
Birt-Hogg-Dube (BHD) syndrome is a tumor-suppressor gene disorder characterized by skin tumors, cystic lung disease and renal cell carcinoma. Very little is... 
Folliculin | Oncocytoma | Renal carcinoma | MTOR | BHD | SPONTANEOUS PNEUMOTHORAX | renal carcinoma | TUBEROUS-SCLEROSIS-COMPLEX-2 TSC2 | BIOCHEMISTRY & MOLECULAR BIOLOGY | oncocytoma | BHD GENE | NATURAL-HISTORY | CELL CARCINOMA | CELL BIOLOGY | TUBEROUS SCLEROSIS COMPLEX | ONCOLOGY | PULMONARY LYMPHANGIOLEIOMYOMATOSIS | GENETICS & HEREDITY | mTOR | EMBRYONIC LETHALITY | folliculin | RIBOSOMAL S6 KINASE | NIHON RAT MODEL | Protein Kinases - metabolism | Kidney Neoplasms - genetics | Testis - metabolism | Humans | Gene Expression Regulation, Neoplastic | Male | Kidney Neoplasms - metabolism | RNA, Messenger - metabolism | Brain - metabolism | Glioblastoma - genetics | Cell Transformation, Neoplastic - genetics | Female | Glioblastoma - metabolism | Lung - metabolism | Ovary - metabolism | Mice, Inbred C57BL | Cells, Cultured | Mice, Transgenic | Tumor Suppressor Proteins - physiology | Animals | Proto-Oncogene Proteins - physiology | Carcinoma - genetics | Mice | TOR Serine-Threonine Kinases | Carcinoma - metabolism | Physiological aspects | Tumor suppressor genes | Genetic aspects | Research | Carcinoma, Renal cell | Binding proteins | Genetic regulation | Risk factors | Proteins | Oncology | Genetics | Kidney diseases | Respiratory diseases | Tumors
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6. Full Text FLCN: The causative gene for Birt-Hogg-Dubé syndrome
by Schmidt, Laura S and Linehan, W. Marston
Gene, ISSN 0378-1119, 01/2018, Volume 640, pp. 28 - 42
Germline mutations in the novel tumor suppressor gene are responsible for the autosomal dominant inherited disorder Birt-Hogg-Dubé (BHD) syndrome that... 
FLCN | PGC1α | Birt-Hogg-Dubé syndrome | Kidney tumor | Folliculin | DENN domain | mTOR | AMPK | FNIP1 | FNIP2 | SPONTANEOUS PNEUMOTHORAX | TUMOR-SUPPRESSOR GENE | INTRAGENIC DELETIONS | AMINO-ACID PERMEASE | BHD GENE | RENAL-CELL CARCINOMA | PRIMARY CILIUM | PGC1 alpha | COLORECTAL-CANCER | GENETICS & HEREDITY | Birt-Hogg-Dube syndrome | EMBRYONIC LETHALITY | NIHON RAT MODEL | Birt-Hogg-Dube Syndrome - etiology | Proto-Oncogene Proteins - genetics | Mutation | Signal Transduction | Humans | Tumor Suppressor Proteins - genetics | Genes | Estrogen | Tuberous sclerosis | Heat shock proteins | Development and progression | Genetic transcription | Embryonic stem cells | Proteins | Caenorhabditis elegans | Gene mutations | Glutathione transferase | Genetic research | GABA | Lymphomas | G proteins | Protein kinases | Growth factors | Adenosine triphosphatase | folliculin
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7. Full Text Searching for the hereditary causes of renal-cell carcinoma
by Schmidt, Laura S and Pavlovich, Christian P
Nature Reviews Cancer, ISSN 1474-175X, 05/2004, Volume 4, Issue 5, pp. 381 - 393
Families with hereditary predispositions to cancer continue to provide a unique opportunity for the identification and characterization of genes involved in... 
HYPOXIA-INDUCIBLE FACTOR | ONCOLOGY | GERMAN-SHEPHERD DOG | HOGG-DUBE-SYNDROME | FACTOR MESSENGER-RNA | GERMLINE MUTATIONS | NIHON RAT MODEL | MET TYROSINE KINASE | LINDAU TUMOR-SUPPRESSOR | ENDOTHELIAL GROWTH-FACTOR | WILD-TYPE ALLELE | Carcinoma, Renal Cell - genetics | Kidney Neoplasms - genetics | Neoplastic Syndromes, Hereditary - genetics | Animals | Mutation | Humans | Control | Gene mutations | Causes of | Genetic aspects | Carcinoma, Renal cell | Research | Health aspects
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8. Full Text Interaction of folliculin (Birt-Hogg-Dubé gene product) with a novel Fnip1-like (FnipL Fnip2) protein
by Takagi, Y and Kobayashi, T and Shiono, M and Wang, L and Piao, X and Sun, G and Zhang, D and Abe, M and Hagiwara, Y and Takahashi, K and Hino, O
Oncogene, ISSN 0950-9232, 09/2008, Volume 27, Issue 40, pp. 5339 - 5347
Birt-Hogg-Dube (BHD) syndrome is characterized by the development of pneumothorax, hair folliculomas and renal tumors and the responsible BHD gene is thought... 
AMPK | FnipL/Fnip2 | Fnip1 | BHD | S6K1 | UNIDENTIFIED HUMAN GENES | BIOCHEMISTRY & MOLECULAR BIOLOGY | CODING SEQUENCES | BHD GENE | CDNA-CLONES | NATURAL-HISTORY | COMPLETE SEQUENCES | CANCER | MTOR | CELL BIOLOGY | ONCOLOGY | RENAL CARCINOGENESIS | GENETICS & HEREDITY | NIHON RAT MODEL | Kidney Neoplasms - genetics | Phosphorylation | Protein Biosynthesis | Immunoprecipitation | Kidney - pathology | Ribosomal Protein S6 Kinases - metabolism | Tumor Suppressor Proteins - antagonists & inhibitors | Humans | Carcinoma, Renal Cell - genetics | Cercopithecus aethiops | Cytoplasm - metabolism | Kidney Neoplasms - metabolism | RNA, Messenger - metabolism | Kidney - metabolism | Transfection | RNA, Messenger - antagonists & inhibitors | Tumor Suppressor Proteins - genetics | Polymerase Chain Reaction | Proto-Oncogene Proteins - metabolism | Proto-Oncogene Proteins - antagonists & inhibitors | Tumor Suppressor Proteins - metabolism | Carcinoma, Renal Cell - pathology | RNA, Messenger - genetics | RNA, Small Interfering - pharmacology | Carrier Proteins - antagonists & inhibitors | Cells, Cultured | Proto-Oncogene Proteins - genetics | Blotting, Western | Syndrome | Carcinoma, Renal Cell - metabolism | Carrier Proteins - genetics | Blotting, Northern | Animals | Carrier Proteins - metabolism | Protein Binding | Kidney Neoplasms - pathology | HeLa Cells | COS Cells | Proteins | Oncology | Genetics | Kidneys | Binding sites | Tumors
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9. Full Text Birt–Hogg–Dubé syndrome: Clinical and molecular aspects of recently identified kidney cancer syndrome
by Hasumi, Hisashi and Baba, Masaya and Hasumi, Yukiko and Furuya, Mitsuko and Yao, Masahiro
International Journal of Urology, ISSN 0919-8172, 03/2016, Volume 23, Issue 3, pp. 204 - 210
Birt–Hogg–Dubé syndrome is an autosomal dominantly inherited disease that predisposes patients to develop fibrofolliculoma, lung cysts and bilateral multifocal... 
kidney cancer | folliculin | mTORC1 | mitochondria | Birt–Hogg–Dubé syndrome | Folliculin | Mitochondria | Birt-Hogg-Dubé syndrome | Kidney cancer | SPONTANEOUS PNEUMOTHORAX | PULMONARY CYSTS | POLYCYSTIC KIDNEYS | BHD GENE | RENAL TUMORS | NODULAR DERMATOFIBROSIS | PATHOBIOLOGICAL ASPECTS | GERMAN-SHEPHERD DOG | Birt-Hogg-Dube syndrome | UROLOGY & NEPHROLOGY | EMBRYONIC LETHALITY | NIHON RAT MODEL | Kidney Neoplasms - genetics | TOR Serine-Threonine Kinases - metabolism | Humans | Mechanistic Target of Rapamycin Complex 1 | Neoplasms, Experimental - pathology | Multiprotein Complexes - metabolism | Nephrectomy | Tumor Suppressor Proteins - genetics | Neoplasms, Experimental - genetics | Kidney Neoplasms - therapy | Proto-Oncogene Proteins - metabolism | Sirolimus - therapeutic use | Tumor Suppressor Proteins - metabolism | Birt-Hogg-Dube Syndrome - pathology | Neoplasms, Experimental - therapy | Rats | Proto-Oncogene Proteins - genetics | Gene Knockout Techniques | Birt-Hogg-Dube Syndrome - genetics | Sirolimus - administration & dosage | Animals | Carrier Proteins - metabolism | Birt-Hogg-Dube Syndrome - therapy | Kidney Neoplasms - pathology | Mice | Mutation
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