Positional Cloning of Pycnodysostosis

Gelb, Bruce D.

Abstract

Funding Agency

• Agency: National Institute of Health (NIH)
• Institute: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Type: First Independent Research Support & Transition (FIRST) Awards (R29)
• Project #: 1R29AR044231-01
• Application #: 2083928
• Study Section: Orthopedics and Musculoskeletal Study Section (ORTH)
• Project Start: 1996-07-10
• Project End: 2001-06-30
• Budget Start: 1996-07-10
• Budget End: 1997-06-30
• Support Year: 1
• Fiscal Year: 1996

Institution

• Name: Mount Sinai School of Medicine
• Department: Genetics
• Type: Schools of Medicine
• City: New York
• State: NY
• Country: United States
• Zip Code: 10029

Publications

Hou, W S; Bromme, D; Zhao, Y et al. (1999) Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. J Clin Invest 103:731-8

Gelb, B D; Willner, J P; Dunn, T M et al. (1998) Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet 62:848-54

Gelb, B D; Shi, G P; Heller, M et al. (1997) Structure and chromosomal assignment of the human cathepsin K gene. Genomics 41:258-62

Gelb, B D; Moissoglu, K; Zhang, J et al. (1996) Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene. Biochem Mol Med 59:200-6