Identification of a novel BHD gene

Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives

Reexamination Certificate

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C435S006120, C435S091200, C536S024300

Reexamination Certificate

active

07485709

ABSTRACT:
The present disclosure relates to Birt-Hogg-Dubé 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.

REFERENCES:
Kingsman, S.M. et al., Meth. Enzymol., vol. 185, pp. 329-341 (1990).
GenBank Accession No. BC025820.1:Mus musculus, similar to Unknown (protein for MGC:23445) (H. sapiens), clone MGC:37841 (gi:19387934), Sep. 20, 2002.
Birt et al., “Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons,”Arch. Dermatol. (1977) 113:1674-1677. (abstract only).
Hornstein, “Generalized dermal perifollicular fibroma with polyps of the colon,”Hum. Genet. (1976) 33:193-197. (abstract only).
Hornstein et al., “Perifollicular fibromatosis cutis with polyps of the colon—a cutaneo-intestinal syndrome sui generic,”Arch. Derm. Res. (1975) 253:161-175. (abstract only).
Nickerson et al., “Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with Birt-Hogg-Dube' syndrome,”Cancer Cell(2002) 2(2):157.
Nickerson et al., “Homo sapiensfolliculin (BHD) mRNA, complete eds,” Aug. 15, 2002, GenBank Accession No. AF517523.
Schmidt et al., “Birt-Hogg-Dube' syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2”Am. J. Hum. Genet. (2001) 69:876-882.
Toro et al., “Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia,”Arch. Dermatol. (1999) 135:1195-1202 (abstract only).
Zbar et al., “Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dube' syndrome,”Cancer Epidem. Bio. Prev. (2002) 11:393-400.

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