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.

By M. Nickerson, M. Warren, J. Toro, V. Matrosova, G. Glenn, M. Turner, P. Duray, M. Merino, Peter Choyke, C. Pavlovich and 10 more. Cancer Cell, 2002

900 citations recorded by the source corpus.

Subfields: Molecular Biology, Physiology, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/7565c994fc906fd767ab28aacdba15182c447a14

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In Molecular Biology

In Physiology

In Pulmonary and Respiratory Medicine

David M. Sabatini

Citations in the corpus

An official American Thoracic Society public policy statement: Novel risk factors and the global burden of chronic obstructive pulmonary disease. (2010, background): “Similarly, Birt-Hogg-Dubé syndrome (61, 62) and familial spontaneous pneumothorax syndrome (63), which are both caused by mutations in the folliculin gene (64, 65), can cause lung blebs and pneumothorax in nonsmokers, but they have not been clearly associated with COPD.”
DEEP NEURAL (neutral): “However, rare conditions or syndromes such as Birt-Hogg-Dube syndrome are expected to have limited amounts of data in clinical databases [6].”
mTOR Signaling in Growth, Metabolism, and Disease. (2017, background): “Additionally, mutations in the gene encoding folliculin (FLCN) are the causative lesion in the Birt-Hogg-Dube hereditary cancer syndrome (Nickerson et al., 2002), which manifests similarly to TSC.”
The somatic genomic landscape of chromophobe renal cell carcinoma (2014, background): “…mutation of FLCN in the autosomal-dominant cancer predisposition Birt-Hogg-Dubé (BHD) syndrome, in which 34% of BHDassociated kidney tumors are ChRCC (Nickerson et al., 2002; Pavlovich et al., 2002; Schmidt et al., 2001), and with germline mutation of PTEN in Cowden syndrome (Shuch et al., 2013).”
mTOR Signaling in Growth, Metabolism, and Disease (2017, background): “Additionally, mutations in the gene encoding folliculin (FLCN) are the causative lesion in the Birt-Hogg-Dube hereditary cancer syndrome (Nickerson et al., 2002), which manifests similarly to TSC.”
The genetic basis of kidney cancer: a metabolic disease (2010, background): “(52;53) Patients with Birt–Hogg–Dubé syndrome are at risk for the development of benign cutaneous tumors (fibrofolliculomas), (54) pulmonary cysts(54) and chromophobe kidney tumors.”
Dysregulation of the TSC-mTOR pathway in human disease (2004, background): “BHDS is another dominantly inherited hamartoma syndrome that shares several features with TSC and is caused by mutations in the gene FLCN (also called BHD”