Sly WS - Search Results

1

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.

Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS. Shah GN, et al. Among authors: sly ws. Hum Mutat. 2004 Sep;24(3):272. doi: 10.1002/humu.9266. Hum Mutat. 2004. PMID: 15300855

2

Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.

Datta R, Waheed A, Bonapace G, Shah GN, Sly WS. Datta R, et al. Among authors: sly ws. Proc Natl Acad Sci U S A. 2009 Mar 3;106(9):3437-42. doi: 10.1073/pnas.0813178106. Epub 2009 Feb 11. Proc Natl Acad Sci U S A. 2009. PMID: 19211803 Free PMC article.

3

Human carbonic anhydrases and carbonic anhydrase deficiencies.

Sly WS, Hu PY. Sly WS, et al. Annu Rev Biochem. 1995;64:375-401. doi: 10.1146/annurev.bi.64.070195.002111. Annu Rev Biochem. 1995. PMID: 7574487 Review.

4

Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.

Hu PY, Ernst AR, Sly WS, Venta PJ, Skaggs LA, Tashian RE. Hu PY, et al. Among authors: sly ws. Am J Hum Genet. 1994 Apr;54(4):602-8. Am J Hum Genet. 1994. PMID: 8128957 Free PMC article.

5

Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.

Hu PY, Lim EJ, Ciccolella J, Strisciuglio P, Sly WS. Hu PY, et al. Among authors: sly ws. Hum Mutat. 1997;9(5):383-7. doi: 10.1002/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5. Hum Mutat. 1997. PMID: 9143915 No abstract available.

6

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

Hu PY, Roth DE, Skaggs LA, Venta PJ, Tashian RE, Guibaud P, Sly WS. Hu PY, et al. Among authors: sly ws. Hum Mutat. 1992;1(4):288-92. doi: 10.1002/humu.1380010404. Hum Mutat. 1992. PMID: 1301935

7

Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.

Bonapace G, Waheed A, Shah GN, Sly WS. Bonapace G, et al. Among authors: sly ws. Proc Natl Acad Sci U S A. 2004 Aug 17;101(33):12300-5. doi: 10.1073/pnas.0404764101. Epub 2004 Aug 4. Proc Natl Acad Sci U S A. 2004. PMID: 15295099 Free PMC article.

8

Carbonic anhydrase IV and XIV knockout mice: roles of the respective carbonic anhydrases in buffering the extracellular space in brain.

Shah GN, Ulmasov B, Waheed A, Becker T, Makani S, Svichar N, Chesler M, Sly WS. Shah GN, et al. Among authors: sly ws. Proc Natl Acad Sci U S A. 2005 Nov 15;102(46):16771-6. doi: 10.1073/pnas.0508449102. Epub 2005 Oct 31. Proc Natl Acad Sci U S A. 2005. PMID: 16260723 Free PMC article.

9

Carbonic anhydrase XIV deficiency produces a functional defect in the retinal light response.

Ogilvie JM, Ohlemiller KK, Shah GN, Ulmasov B, Becker TA, Waheed A, Hennig AK, Lukasiewicz PD, Sly WS. Ogilvie JM, et al. Among authors: sly ws. Proc Natl Acad Sci U S A. 2007 May 15;104(20):8514-9. doi: 10.1073/pnas.0702899104. Epub 2007 May 7. Proc Natl Acad Sci U S A. 2007. PMID: 17485676 Free PMC article.

10

Progressive renal injury from transgenic expression of human carbonic anhydrase IV folding mutants is enhanced by deficiency of p58IPK.

Datta R, Shah GN, Rubbelke TS, Waheed A, Rauchman M, Goodman AG, Katze MG, Sly WS. Datta R, et al. Among authors: sly ws. Proc Natl Acad Sci U S A. 2010 Apr 6;107(14):6448-52. doi: 10.1073/pnas.1001905107. Epub 2010 Mar 22. Proc Natl Acad Sci U S A. 2010. PMID: 20308551 Free PMC article.

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