National Institutes of Health, a Component of the US Dept. of Health & Human Services

Laura S Schmidt

Berton Zbar

Michelle Warren

Michael L Nickerson

Maria L Turner

W Marston Linehan

Jorge R Toro

Wenbin Ma

Jorge P Toro

Lino Tessarollo

Marston W Linehan

The present disclosure relates to Birt-Hogg-Dub&#xe9; syndrome, nucleic acids encoding the BHD gene, and methods of using the nucleic acids and proteins encoded thereby. In particular, the present disclosure relates to methods of diagnosing BHD disease and related conditions, such as spontaneous pneumothorax and kidney cancer, and methods of treating BHD skin lesions.

Identification of a novel BHD gene

The present disclosure relates to Birt-Hogg-Dub&#xe9; syndrome, nucleic acids encoding the BHD gene, and antibodies that specifically bind to the BHD protein (folliculin). In addition, the present disclosure relates to methods of diagnosing BHD disease and related conditions, such as spontaneous pneumothorax and kidney cancer, by detection of altered expression of folliculin using folliculin-specific antibodies.

Folliculin-specific antibodies and methods of detection

Disclosed herein are nucleic acid molecules that can be used to effect a loss of function of the von Hippel-Lindau (VHL) allele in somatic and/or germ cells of a mammal and methods for using these molecules to create conditional VHL gene targeted and conditional VHL knockout animals. Disclosed herein are conditional VHL gene target vectors which, when inserted into an endogenous VHL gene, can result in deletion of an exon of a VHL gene by site-specific recombinaton when a recombinase is expressed conditionally.

Model for von Hippel-Lindau disease

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Mt. Airy, MD, United States of America

Laura S Schmidt