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

The United States of America As Represented by the Secretary of

The United States of America As Represented by the Department of Health

Berton Zbar

Laura S Schmidt

W Marston Linehan

Michael I Lerman

Farida Latif

Michael L Nickerson

Michelle Warren

Maria L Turner

Jorge R Toro

Marston Linehan

Wenbin Ma

Jorge P Toro

Marston W Linehan

Lino Tessarollo

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

The Von Hippel-Lindau (VHL) disease gene and its corresponding cDNA are disclosed. Methods for detecting carriers of the VHL disease gene using probes derived from the VHL disease gene sequence are described. Pharmaceutical compositions and methods of treating diseases related to the VHL gene are also disclosed.

Partial intron sequence of von hippel-lindau (VHL) disease gene and its use in diagnosis of disease

The invention is the Von Hippel-Lindau (VHL) disease gene and its corresponding cDNA protein product, and antibodies therefore. Methods for detecting carriers of the VHL disease gene using probes derived from the cDNAs are described. Antibodies and methods of detecting the Von-Hippel-Lindau protein are also described.

Von Hippel - Lindau (VHL) disease gene and corresponding cDNA and

The invention is the Yon Hippel-Lindau (VHL) disease gene and its corresponding cDNA. Methods for detecting carriers of the VHL disease gene using probes derived from the cDNAs are described.

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Garrett Park, MD, United States of America

Berton Zbar