Shah GN - Search Results

1

Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family.

Schwartz I, Silva LR, Leistner S, Todeschini LA, Burin MG, Pina-Neto JM, Islam RM, Shah GN, Sly WS, Giugliani R. Schwartz I, et al. Among authors: shah gn. Clin Genet. 2003 Aug;64(2):172-5. doi: 10.1034/j.1399-0004.2003.00119.x. Clin Genet. 2003. PMID: 12859417 No abstract available.

2

PCR-based restriction fragment length polymorphism and haplotype of the most common mutation L176F in the beta-glucuronidase gene.

Islam MR, Shah GN, Sly WS. Islam MR, et al. Among authors: shah gn. Genet Test. 2007 Spring;11(1):72-4. doi: 10.1089/gte.2006.0505. Genet Test. 2007. PMID: 17394395

3

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE. Borthwick KJ, et al. Among authors: shah gn. J Med Genet. 2003 Feb;40(2):115-21. doi: 10.1136/jmg.40.2.115. J Med Genet. 2003. PMID: 12566520 Free PMC article.

4

Infused Fc-tagged beta-glucuronidase crosses the placenta and produces clearance of storage in utero in mucopolysaccharidosis VII mice.

Grubb JH, Vogler C, Tan Y, Shah GN, MacRae AF, Sly WS. Grubb JH, et al. Among authors: shah gn. Proc Natl Acad Sci U S A. 2008 Jun 17;105(24):8375-80. doi: 10.1073/pnas.0803715105. Epub 2008 Jun 10. Proc Natl Acad Sci U S A. 2008. PMID: 18544647 Free PMC article.

5

Enhanced translation of rat beta-glucuronidase cDNA is conferred by 155-bp segment of internal coding sequence.

Islam MR, Shah GN, Sly WS. Islam MR, et al. Among authors: shah gn. Arch Biochem Biophys. 1996 Sep 15;333(2):385-93. doi: 10.1006/abbi.1996.0405. Arch Biochem Biophys. 1996. PMID: 8809077

6

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: shah gn. 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.

7

Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone.

Datta R, Waheed A, Shah GN, Sly WS. Datta R, et al. Among authors: shah gn. Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):19989-94. doi: 10.1073/pnas.0708725104. Epub 2007 Dec 3. Proc Natl Acad Sci U S A. 2007. PMID: 18056632 Free PMC article.

8

Bicarbonate homeostasis in excitable tissues: role of AE3 Cl-/HCO3- exchanger and carbonic anhydrase XIV interaction.

Casey JR, Sly WS, Shah GN, Alvarez BV. Casey JR, et al. Among authors: shah gn. Am J Physiol Cell Physiol. 2009 Nov;297(5):C1091-102. doi: 10.1152/ajpcell.00177.2009. Epub 2009 Aug 19. Am J Physiol Cell Physiol. 2009. PMID: 19692653 Free PMC article.

9

Human egasyn binds beta-glucuronidase but neither the esterase active site of egasyn nor the C terminus of beta-glucuronidase is involved in their interaction.

Islam MR, Waheed A, Shah GN, Tomatsu S, Sly WS. Islam MR, et al. Among authors: shah gn. Arch Biochem Biophys. 1999 Dec 1;372(1):53-61. doi: 10.1006/abbi.1999.1449. Arch Biochem Biophys. 1999. PMID: 10562416

10

Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome.

McMahon C, Will A, Hu P, Shah GN, Sly WS, Smith OP. McMahon C, et al. Among authors: shah gn. Blood. 2001 Apr 1;97(7):1947-50. doi: 10.1182/blood.v97.7.1947. Blood. 2001. PMID: 11264157 Free article.

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