麻豆传媒

William Sly, M.D.

Professor Emeritus
Biochemistry and Molecular Biology

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Research

Experimental approaches to the treatment of murine 尾-glucuronidase deficiency mucopolysaccharidosis (Sly syndrome) and biochemical and molecular genetics studies of human carbonic anhydrase deficiencies.

Research Interests

Areas of research include: (i) experimental approaches to treatment of murine beta-glucuronidase deficiency mucopolysaccharidosis (Sly syndrome), (ii) biochemical and molecular genetics of human deficiencies of beta-glucuronidase and carbonic anhydrases, and (iii) developing transgenic mice and mouse models of human disease by targeted mutagenesis.

Publications

Role of carbonic anhydrases in skin wound healing
Barker H, Aaltonen M, Pan P, V盲h盲tupa M, Kaipiainen P, May U, Prince S, Uusitalo-J盲rvinen H, Waheed A, Pastorekov谩 S, Sly WS, Parkkila S and J盲rvinen TA
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Carbonic anhydrase XII functions in health and disease
Waheed A and Sly WS
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Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)
Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS and Mumm S
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Carbonic anhydrase enzymes II, VII, IX and XII in colorectal carcinomas
Viikil盲 P, Kivel盲 AJ, Mustonen H, Koskensalo S, Waheed A, Sly WS, Pastorek J, Pastorekova S, Parkkila S and Haglund C
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Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease
Lee M, Vecchio-Pag谩n B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS and Cutting GR
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