Sahota A - Search Results

1

Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure.

Fye KH, Sahota A, Hancock DC, Gelb AB, Chen J, Sparks JW, Sibley RK, Tischfield JA. Fye KH, et al. Among authors: sahota a. Arch Intern Med. 1993 Mar 22;153(6):767-70. Arch Intern Med. 1993. PMID: 8447714

2

Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis.

Gelb AB, Fye KH, Tischfield JA, Sahota AS, Sparks JW, Hancock DC, Sibley RK. Gelb AB, et al. Among authors: sahota as. Hum Pathol. 1992 Sep;23(9):1081-5. doi: 10.1016/0046-8177(92)90273-6. Hum Pathol. 1992. PMID: 1516930 Free article.

3

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.

Sahota A, Chen J, Boyadjiev SA, Gault MH, Tischfield JA. Sahota A, et al. Hum Mol Genet. 1994 May;3(5):817-8. doi: 10.1093/hmg/3.5.817. Hum Mol Genet. 1994. PMID: 7915931 No abstract available.

4

Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.

Bye S, Mallmann R, Duley J, Simmonds HA, Chen J, Tischfield JA, Sahota A. Bye S, et al. Among authors: sahota a. Clin Investig. 1994 Jul;72(7):550-3. doi: 10.1007/BF00207486. Clin Investig. 1994. PMID: 7981585

5

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

Engle SJ, Stockelman MG, Chen J, Boivin G, Yum MN, Davies PM, Ying MY, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA. Engle SJ, et al. Among authors: sahota a. Proc Natl Acad Sci U S A. 1996 May 28;93(11):5307-12. doi: 10.1073/pnas.93.11.5307. Proc Natl Acad Sci U S A. 1996. PMID: 8643571 Free PMC article.

6

Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.

Stockelman MG, Lorenz JN, Smith FN, Boivin GP, Sahota A, Tischfield JA, Stambrook PJ. Stockelman MG, et al. Among authors: sahota a. Am J Physiol. 1998 Jul;275(1):F154-63. doi: 10.1152/ajprenal.1998.275.1.F154. Am J Physiol. 1998. PMID: 9689017

7

Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis.

Wang L, Raikwar N, Deng L, Yang M, Liang L, Shao C, Evan AP, Stambrook PJ, Sahota A, Tischfield JA. Wang L, et al. Among authors: sahota a. Kidney Int. 2000 Aug;58(2):528-36. doi: 10.1046/j.1523-1755.2000.00199.x. Kidney Int. 2000. PMID: 10916076 Free article.

8

2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.

Deng L, Yang M, Fründ S, Wessel T, De Abreu RA, Tischfield JA, Sahota A. Deng L, et al. Among authors: sahota a. Mol Genet Metab. 2001 Mar;72(3):260-4. doi: 10.1006/mgme.2000.3142. Mol Genet Metab. 2001. PMID: 11243733

9

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

Sahota A, Chen J, Behzadian MA, Ravindra R, Takeuchi H, Stambrook PJ, Tischfield JA. Sahota A, et al. Am J Hum Genet. 1991 May;48(5):983-9. Am J Hum Genet. 1991. PMID: 1673292 Free PMC article.

10

Mutational basis of adenine phosphoribosyltransferase deficiency.

Sahota A, Chen J, Stambrook PJ, Tischfield JA. Sahota A, et al. Adv Exp Med Biol. 1991;309B:73-6. doi: 10.1007/978-1-4615-7703-4_16. Adv Exp Med Biol. 1991. PMID: 1781410

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