UMDNJ - ROBERT WOOD JOHNSON MEDICAL SCHOOL
DEPARTMENT OF PATHOLOGY AND LABORATORY MEDICINE

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  Faculty Information

Amrik Sahota, PhD, MRCPath, FACMG, FIBiol

Position:  Adjunct Professor, Department of Pathology and Laboratory Medicine,    Professor, Department of Genetics, Rutgers University, Piscataway, NJ.

Administrative:  

Associate Director, Cell and DNA Repository, Department of Genetics, Rutgers University, Piscataway, NJ.

Director, Molecular Pathology Laboratory, Department of Pathology, Robert Wood Johnson University Hospital (RWJUH), New Brunswick, NJ.

Department: Pathology and Laboratory Medicine

Phone Number: (732) 445-7185

Fax Number: (732) 445-1147 

Email Address: sahota@biology.rutgers.edu
Clinical Programs
 
bullet Director, Molecular Pathology Laboratory, Department of Pathology, Robert Wood Johnson University Hospital (RWJUH), New Brunswick, NJ.

 
Clinical and Scientific Research Interests
 
bullet Adenine phosphoribosyltransferase (APRT) deficiency: Germline mutations in APRT are a cause of kidney stone disease and, in some cases, acute or chronic renal failure. We have identified nearly all the known mutations in this gene and have used these data to infer genotype-phenotype and structure-function correlations. We are also investigating mutational events in somatic cells from APRT heterozygotes. These events appear to be similar to those that occur in tumor suppressor genes. Thus, in addition to its role in kidney disease, APRT is a useful model for studying somatic mutations leading to malignancy.
bullet Molecular pathophysiology of kidney stone disease: We have made an Aprt knockout mouse and have shown that it is an excellent model for the corresponding human disease. The interaction of crystals with renal epithelial cells is an important event in the initiation of cellular injury. We have therefore also developed a cell culture system for studying the effects of crystals of 2,8-dihydroxyadenine (2,8-DHA), the substance that accumulates in APRT deficiency, and of calcium oxalate monohydrate (the most common cause of kidney stone disease) on human renal epithelial cells. We are investigating the pathological bases of DHA-induced renal injury and correlating these findings with the histological changes at different stages of disease progression. We have identified a subset of genes whose expression is significantly altered in Aprt-deficient mice or in cells exposed to crystals. These genes encode proteins involved in, among other processes, tissue calcification, fibrosis, inflammation, and ion transport. We have also developed an Aprt/Opn double knockout mouse to study the effects of osteopontin (OPN) on stone disease. OPN has multiple cellular functions, including its effect as a modifier of stone disease. Results from the mouse kidney and cell culture models are being applied to the analysis of renal biopsies from patients with calcium oxalate and other forms of stone disease. The combined mouse, human, and cell culture studies provide fundamental insights into the molecular and cellular pathogenesis of kidney stone disease, and they may lead to the identification of diagnostic or prognostic markers or potential targets for pharmacological intervention.
bullet Chronic rejection of kidney allografts: Advances in surgical techniques and in immunosuppressive therapy have made kidney transplantation a routine procedure, but chronic allograft rejection remains a major problem. Tissues undergoing chronic rejection may show features of low-grade acute rejection with up-regulation of pro-fibrosis and inflammatory genes. We are using microarray and other molecular technologies to identify genes that may act as surrogate markers for early diagnosis of chronic rejection. Early diagnosis may facilitate early intervention by changes in immunosuppressant regimens, before the onset of irreversible scarring in the kidney allograft. Genes under investigation include those for chemokines, cytokines, metalloproteinases, vasoactive substances, and a number of other enzymes and proteins.
bullet Microchimerism and organ transplantation: A small group of organ transplant recipients become hyporesponsive to donor antigens and have lower levels of chronic rejection. The presence of small numbers of donor-type cells in the circulation of these patients (microchimerism) may correlate with hyporesponsiveness. To assess the clinical significance of microchimerism, we have investigated the levels of donor-type DNA and mediators of chronic rejection in post-transplant blood samples and renal biopsies from kidney transplant recipients, respectively. We are also developing the above APRT-deficient mouse as a model for the identification and characterization of cell types involved in microchimerism, since APRT can be detected with extremely high sensitivity and APRT-positive cells can be selected in culture.
bullet Alzheimer disease (AD): The 4 allele of apolipoprotein E (APOE) is a major risk factor for the development of late-onset AD in Caucasian populations, but there is no apparent relationship between this marker and AD in African populations. The association between APOE 4 and AD in African-American populations is dependent on gene dosage. To understand the biological bases for these differences, we have investigated the relationship between oxidative DNA damage, APOE genotypes, and AD in cell lines from different population groups. Several studies have suggested a role for increased oxidative DNA damage in the pathogenesis of late-onset AD.
bullet Molecular diagnostics: Recent advances in molecular biology and genetics have revolutionized our understanding of inherited disorders, cancer, and infectious diseases. We have developed and/or implemented into clinical practice many molecular diagnostic assays based on these advances. A number of highly productive research collaborations (e.g., studies on Alzheimer disease) have resulted from these endeavors.
bullet Large-scale genetic studies: Lymphoblastoid cell lines (LCLs) have been widely used in genetic epidemiology studies since they provide a renewable source of DNA, RNA and proteins as well as a living system for future investigation. The availability of LCLs also ensures enough DNA to identify rearrangements or microdeletions, mitochondrial studies at the DNA or cellular levels, fluorescence in situ hybridization (FISH) studies of whole chromosomes, and genetic mechanisms of disease including alternative RNA splicing. We provide services for the establishment of comprehensive human cell line and DNA repositories, and our laboratories house the cell line and DNA repositories for several NIH institutes and private organizations. We also provide logistical and technical support, including collection and distribution of biomaterials and verification of pedigree relationships, for laboratories engaged in the search for genes for complex human diseases, such as alcoholism and schizophrenia.
 

Training
bulletBath University, United Kingdom (UK),BSc, Biochemistry 1974.
bulletLoughborough University, UK, MSc, Medicinal Chemistry 1976).
bulletGuy’s Hospital Medical School, London University, UK, PhD, 1981
bulletAston University, Birmingham, UK, Department of Molecular Sciences 1980-83,

Honors and Awards
1976-1979 Medical Research Council (UK) PhD studentship
1979-1980 Wellcome Trust (UK) Research assistantship
1980-1983 Cancer Research Council (UK) Postdoctoral fellowship
1996 Fellow, American College of Medical Genetics
2002 Member, NIAAA (NIH) Special Emphasis Panel (ZAA1 AA)
2002 Fellow, Institute of Biology (UK)
 
Certifications Licensure

Diplomate (Clinical Molecular Genetics), American Board of Medical Genetics, 1993)

 

  
 
Office Address   Mailing Address
Department of Pathology & Laboratory Medicine
One Robert Wood Johnson Place
Robert Wood Johnson University Hospital
New Brunswick, NJ 08901, USA
 		 Robert Wood Johnson University Hospital
Box 2601, One Robert Wood Johnson Place
New Brunswick, NJ 08903-2601
 
Biographical Listings
2001 Strathmore’s Who’s Who
 
Selected Publications

  1. Dean BM, Perrett D, Simmonds HA, Sahota A, Van Acker KJ (1978). Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate transferase: A study of two families. Clin Sci Molec Med 55: 407-412.

  2. Simmonds HA, Potter CF, Sahota A, Cameron JS, Rose GA, Barratt TM, Williams DI, Arkell DG, Van Acker KJ (1978). Adenine phosphoribosyltransferase deficiency presenting with supposed "uric acid" stones: Pitfalls of diagnosis. J Roy Soc Med 71: 791-795.

  3. Simmonds HA, Potter CF, Sahota A, Cameron JS, Webster DR, Becroft DMO (1978). Absence of oroticaciduria in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency. Clin Exp Immunol 34: 42-45.

  4. Simmonds HA, Sahota A, Potter CF, Cameron JS (1978). Purine metabolism and immunodeficiency. Clin Sci Molec Med 54: 579-584.

  5. Sahota A, Simmonds HA, Payne RH (1979). Separation of urinary purines and and pyrimidines by isotachophoresis. J Pharmacol Methods 2: 263-278.

  6. Simmonds HA, Sahota A, Potter CF, Perrett D, Hugh-Jones K, Watson JG (1979). Purine metabolism in adenosine deaminase deficiency. Ciba Symposium 68 (New Series), pp 255-262.

  7. Simmonds HA, Watson JG, Hugh-Jones K, Perrett D, Sahota A, Potter CF (1979). Deoxynucleoside excretion in adenosine deaminase and purine nucleoside phosphorylase deficiency. In "Inborn errors of specific immunity" (Pollara B et al, Eds), Academic Press, New York, pp 377-390.

  8. Sahota A, Simmonds HA, Potter CF, Watson JG, Hugh-Jones K, Perrett D (1980). Adenosine and deoxyadenosine metabolism in the erythrocytes of a patient with adenosine deaminase deficiency. Adv Exp Med Biol 122A: 397-401.

  9. Simmonds HA, Barratt TM, Webster DR, Sahota A, Van Acker KJ, Cameron JS, Dillon M (1980). Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency. Adv Exp Med Biol 122A: 337-341.

  10. Simmonds HA, Sahota A, Payne RH (1980). A rapid screening method for inborn errors of purine and pyrimidine metabolism using isotachophoresis. Adv Exp Med Biol 122B: 421-427.

  11. Van Acker KJ, Simmonds HA, Potter CF, Sahota A (1980). Inheritance of adenine phosphoribosyltransferase (APRT) deficiency. Adv Exp Med Biol 122A: 349-353.

  12. Perrett D, Sahota A, Simmonds HA, Hugh-Jones K (1981). Deoxyadenosine metabolism in the erythrocytes of children with severe combined immunodeficiency. Biosci Rep 1: 933-944.

  13. Simmonds HA, Van Acker KJ, Dillon MJ, Barratt TM, Potter CF, Sahota A, Cameron JS (1981). 2,8-Dihydroxyadeniuria: Or when is a uric acid stone not a uric acid stone? In "Urolithiasis: Clinical and basic research" (Smith LH et al, Eds), Plenum Press, New York, pp 1215-1230.

  14. Simmonds HA, Watson AR, Webster DR, Sahota A, Perrett D (1982). GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency. Biochem Pharmacol 31: 941-946.

  15. Sahota A, Webster DR, Potter CF, Simmonds HA, Rodgers AV, Gibson T (1983). Methylthioadenosine phosphorylase activity in human erythrocytes. Clin Chem Acta 128: 283-290.

  16. Whitburn SB, Sahota A, Nayyir-Mazhir R, Blair JA (1983). 13-C nmr elucidation of the differing biological activities of folic acid isotopomers and derivatives. Biochem Soc Trans 11: 375-376.

  17. Cameron JS, Simmonds HA, Webster DR, Wass V, Sahota A (1984). Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure. Adv Exp Med Biol 165A: 7-12.

  18. Sahota A, Blair JA, Barford PA, Leeming RJ, Green A, Pollitt RJ (1985). Neonatal screening for dihydropteridine reductase deficiency. J Inherit Metab Dis 8 (Suppl 2): 99-100.

  19. Sahota A, Leeming R, Blair J, Hagberg B (1985). Tetrahydrobiopterin metabolism in the Rett disease. Brain Dev 7: 349-350.

  20. Armstrong RA, Sahota A, Blair JA, Cohen BE (1986). A genetic analysis of partial dihydropteridine reductase deficiency in families with mental retardation. J Inherit Metab Dis 9: 400-401.

  21. Sahota A, Leeming RJ, Blair JA, Armstrong RA, Green A, Cohen BE (1986). Partial dihydropteridine reductase deficiency and mental retardation. J Inherit Metab Dis 9: 247-249.

  22. Leeming RJ, Karim AR, Sahota A, Blair JA, Green A (1987). The examination of dried blood spots for dihydropteridine reductase and total biopterin in hyperphenylalaninaemia and other neurological conditions. Arch Franc Ped 44: 649-654.

  23. Sahota A, Ranjekar PK, Alfonzo J, Lewin AS, Taylor MW (1987). Mutants of Saccharomyces cerevisiae deficient in adenine phosphoribosyltransferase. Mutat Res 180: 81-87.

  24. Sahota A, Chen J, Asako K, Takeuchi H, Stambrook PJ, Tischfield JA (1990). Identification of a common nonsense mutation in Japanese patients with Type I adenine phosphyoribosyltransferase deficiency. Nuc Acids Res 18: 5915-5916.

  25. Chen J, Sahota A, Laxdal T, Scrine M, Bowman S, Cui P, Stambrook PJ, Tischfield JA (1991). Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. Am J Hum Genet 49: 1306-1311.

  26. Chen J, Sahota A, Stambrook PJ, Tischfield JA (1991). Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: The nature and frequency of errors caused by Taq DNA polymerase. Mutat Res 249: 169-176.

  27. Gathof B, Sahota A, Gresser U, Chen J, Stambrook PJ, Tischfield JA, Zollner N (1991). A splice mutation at the adenine phosphoribosyltransferase locus in a German family. Adv Exp Med Biol 309B: 83-85.

  28. Gathof B, Sahota A, Gresser U, Chen J, Stambrook PJ, Tischfield JA, Zollner N (1991). Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. Klin Wochen 69: 1152-1155.

  29. Konan V, Sahota A, Graham FL, Taylor MW (1991). Transduction of the CHO apt gene into mouse L-cells using an adeno-5/APRT recombinant virus. Somat Cell Molec Genet 17: 359-368.

  30. Sahota A, Behzadian MA, Ravindra R, Chen J, Takeuchi H, Stambrook PJ, Tischfield JA (1991). 2,8-Dihydroxyadenine urolithiasis in a patient heterozygous for Japanese type adenine phosphoribosyltransferase deficiency. Am J Hum Genet 48: 983-989.

  31. Sahota A, Chen J, Stambrook PJ, Tischfield JA (1991). Mutational basis of adenine phosphoribosyltransferase deficiency. Adv Exp Med Biol 309B: 73-76.

  32. Gelb AB, Fye KH, Tischfield JA, Sahota AS, Sparks JW, Hancock DC, Sibley RK (1992). Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis: Report of a case and review of the literature. Hum Path 23: 1081-1085.

  33. Simmonds HA, Van Acker KJ, Sahota AS (1992). 2,8-Dihydroxyadenine urolithiasis. Lancet 339: 1295-1296.

  34. Chen J, Sahota A, Martin GF, Hakoda M, Kamatani N, Stambrook PJ, Tischfield JA (1993). Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots in the intron 4 splice donor site and at codon 87. Mutat Res 287: 217-225.

  35. Fye KH, Sahota A, Hancock DC, Gelb AB, Chen J, Sibley RK, Tischfield JA (1993). Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. Arch Inter Med 153: 767-770.

  36. Sahota A, Chen J, Stambrook PJ, Tischfield JA (1993). Genetic basis of adenine phosphoribosyltransferase deficiency. In "Molecular genetics, biochemistry, and clinical aspects of inherited disorders of purine and pyrimidine metabolism" (Gresser U et al, Eds). Springer-Verlag, Berlin, pp 54-60.

  37. Alfonzo-Garcia J, Sahota A, Taylor MW (1994). Characterization of adenine phosphoribosyltransferase from Saccharomyces cerevisiae. Adv Expt Med Biol 370: 627-630.

  38. Boyadjiev SA, Sahota A, Tischfield JA (1994). Identification of polymorphic markers flanking the human APRT gene. Adv Expt Med Biol 370: 657-660.

  39. Bye S, Mallmann R, Duley J, Simmonds HA, Chen J, Tischfield JA, Sahota A (1994). Identification of a 7 basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis. Clinical Investigator 72: 550-553.

  40. Bye S, Sahota A, Chen J, Tischfield JA (1994). Analysis of APRT mutations by reverse-transcription PCR. Adv Expt Med Biol 370: 671-674.

  41. Gupta PK, Sahota A, Boyadjiev SA, Bye S, O'Neill JP, Hunter TC, Albertini RJ, Tischfield JA (1994). Analysis of in vivo somatic mutations at the APRT locus. Adv Expt Med Biol 370: 653-656.

  42. Sahota A, Bye S, Chen J, Khattar N, Turker MS, Moro F, Simmonds HA, Emmerson BT, Gordon RB, Tischfield JA (1994). Molecular characterization of a novel mutation in APRT heterozygotes. Adv Expt Med Biol 370: 675-678.

  43. Sahota A, Chen J, Bye S, Jaing J, Berenyi M, Fekete G, Tischfield JA (1994). Occurrence of a missense mutation in one allele and a seven basepair deletion in the other allele in a patient with adenine phosphoribosyltransferase deficiency. Hum Mutat 3: 315-317.

  44. Sahota A, Chen J, Gault MH, Tischfield JA (1994). Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. Hum Molec Genet 5: 817-818.

  45. Tischfield JA, Engle S, Gupta PK, Bye S, Boyadjiev S, Shao C, O'Neill JP, Albertini RJ, Stambrook PJ, Sahota A (1994). Germline and somatic mutation at the APRT locus of mice and man. Adv Expt Med Biol 370: 661-664.

  46. Alfonzo-Garcia J, Sahota A, Deeley MC, Ranjekar P, Taylor MW (1995). Cloning and characterization of the adenine phosphoribosyltransferase (APT1) gene from Saccharomyces cerevisiae. Gene 161: 81-85.

  47. Hendrie HC, Hall KS, Hui S, Unverzagt FW, Yu CE, Lahiri DK, Sahota A, Farlow M, Musick B, Class CA, Brashear A, Burdine VE, Osuntokun BO, Ogunniyi AO, Gureje O, Baiyewu O, Shellenberg GD (1995). Apolipoprotein E genotypes and Alzheimer disease in a community study of elderly African-Americans. Ann Neurol 37: 118-120.

  48. Osuntoken BO, Sahota A, Ogunniyi AO, Gureje O, Bayewu O, Adeyinka A, Oluwole SO, Komolafe O, Hall KS, Unvergazt FW, Hui SL, Yang M, Hendrie HC (1995). Lack of an association between the e4 allele of APOE and Alzheimer disease in a community study of elderly Nigerians. Ann Neurol 38: 463-465.

  49. Boyadjiev SA, Sahota A, Tischfield JA (1996). Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene. Hum Mutat 8: 214-215.

  50. Engle SJ, Stockelman MG, Chen J, Boivin G, Yum M-N, Davies PM, Ying MY, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA (1996). Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis. Proc Natl Acad Sci USA 93: 5307-5310.

  51. Engle SJ, Womer DE, Davies PM, Boivin G, Sahota A, Simmonds HA, Stambrook PJ, Tischfield JA (1996). HPRT-APRT deficient mice are not a model for Lesch-Nyhan syndrome. Hum Molec Genet 5: 1607-1610.

  52. Hui S, Gao S, Hall KS, Sahota A, Hendrie HC (1996). Association of APOE e4 genotype with performance on a dementia screen in African Americans. Ethinicity Dis 6: 266-271.

  53. Shao C, Gupta PK, Sun Y, Sahota A, Tischfield JA (1996). Complex chromosomal mechanisms lead to APRT loss of heterozygosity in heteroploid cells. Cytogenet Cell Genet 75: 216-221.

  54. Tycko B, Feng L, Nguyen L, Francis A, Hays A, Chung W-Y, Tang M-X, Stern Y, Sahota A, Hendrie H, Mayeux R (1996). Polymorphisms in the human apolipoprotein-J/Clusterin Gene: Ethnic variation and distribution in Alzheimer’s disease. Hum Genet 98: 430-436.

  55. Yang M, Hendrie HC, Hall KS, Oluwole OSA, Hodes ME, Sahota A (1996). An improved procedure for eluting DNA from dried blood spots. Clin Chem 42: 1115-1116.

  56. Alfonzo JD, Sahota A, Taylor MW (1997). Purification and characterization of adenine phoshoribosyltransferase from Saccharomyces cerevisiae. Biochem Biophys Acta 1341: 173-182.

  57. Class CA, Unverzagt FW, Gao S, Sahota A, Hall KS, Hendrie HC (1997). The association between ApoE genotype and depressive symptoms in elderly African-American subjects. Am J Geriatr Psychiatry 5: 339-343.

  58. Farrer LA, Cupples A, Haines JL, Hyman B, Kukull WA, Mayeux R, et al (1997). Effects of age, sex, and ethinicity on the association between apolipoprotein E genotype and Alzheimer disease. Effects of age, gender and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. JAMA 278:1349-1356.

  59. Gupta PK, Sahota A, Boyadjiev SA, Bye S, Shao C, O’Neill JP, Hunter TC, Albertini RJ, Stambrook PJ, Tischfield JA (1997). High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination. Cancer Res 57: 1188-1193.

  60. Gupta PK, Shao C, Zhu Y, Sahota A, Tischfield JA (1997). Loss of heterozygosity analysis in a human fibrosarcoma cell line. Cytogenet Cell Genet 76: 214-218.

  61. Jindal RM, Sahota A (1997). New concepts in medicine: The emerging role of cell migration and chimerism in the induction of tolerance after transplantation. Postgrad Med J 73: 146-150.

  62. McDaniel HB, Sidner RA, Yang M, Burton M, Shao C, Tischfield JA, Jindal RM, Sahota A (1997). Evaluation of a mouse model for the study of microchimerism and tolerance. Surg Forum 48: 510-511.

  63. Sahota A, Yang M, Gao S, Hui SL, Baiyewu O, Gureje O, Oluwole S, Ogunniyi A, Hall, KS, Hendrie HC (1997). Apolipoprotein E-associated risk for Alzheimer disease in the African-American population is genotype-dependent. Ann Neurol 42: 659-661.

  64. Morgan OS, Eldemire DA, Thesiger CH, Luseko J, Sahota A, Gao S, Hall KS, Hendrie HC (1998). APOE allele frequencies in demented and nondemented elderly Jamaicans. Ann Neurol 43: 545.

  65. Sahota A, Yang M, Sidner RA, McDaniel HC, Book B, Barr R, Brahmi Z, Jindal RM (1998). Evaluation of seven PCR-based assays for the analysis of microchimerism. Clin Biochem 31: 641-645.

  66. Stockleman M, Lorenz JN, Smith FN, Boivin GP, Sahota A, Tischfield JA, Stambrook PJ (1998). Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency. Am J Physiol 275: F154-163.

  67. Bolante-Cervantes R, Li S, Sahota A, Tischfield JA, Zwerdling T, Stambrook PJ (1999). Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model. Exptl Hematol 27: 1346-1352.

  68. Lahiri DK, Xu Y, Klaunig J, Baiyewu O, Ogunniyi A, Hall K, Hendrie H, Sahota A (1999). Effect of oxidative stress on DNA damage and beta-amyloid precursor proteins in lymphoblastoid cell lines from a Nigerian population. Ann NY Acad Sci 893: 331-336.

  69. McDaniel HB, Yang M, Sidner RA, Jindal RM, Sahota A (1999). Prospective study of microchimerism in transplant recipients. Clin Transplant 13: 187-192.

  70. Sahota A, Yang M, McDaniel HB, Hall M, Sidner RA, Jindal RM (1999). Microchimerism analysis using PCR assays that selectively amplify donor DNA. Transplant Proc 31: 800-801.

  71. Shao C, Deng L, Henegariu O, Liang L, Raikwar N, Sahota A, Stambrook PJ, Tischfield JA (1999). Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice. Proc Natl Acad Sci USA 96: 9230-9235.

  72. Wang L, Ou X, Sebesta I, Vondrak K, Krijt J, Elleder M, Poupetova H, Ledvinova J, Zeman J, Simmonds HA, Tischfield JA, Sahota A (1999). Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. Molec Genet Metab 68: 78-85.

  73. Evans RM, Emsley CL, Gao S, Sahota A, Hall KS, Farlow MR, Hendrie H (2000). Serum cholesterol, APOE genotype, and the risk of Alzheimer's disease: a population-based study of African Americans. Neurology. 54: 240-242.

  74. Sahota A, Gao S, Hayes J, Jindal RM (2000). Microchimerism and rejection: A meta-analysis. Clin Transplant 14: 346-351.

  75. Wang L, Raikwar N, Deng L, Yang M, Liang L, Shao C, Evan AP, Stambrook PJ, Sahota A, Tischfield JA (2000). Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis. Kidney Int 58: 528-536.

  76. Deng L, Yang M, Fründ S, Wessel T, De Abreu RA, Tischfield JA, Sahota A (2001). Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. Mol Genet Metab 72: 260-264.

  77. Evan AP, Bledsoe SB, Connors BA, Deng L, Liang L, Shao C, Fineberg N, Grynpass MD, Stambrook PJ, Sahota A, Tischfield JA (2001). Sequential analysis of kidney stone disease in the Aprt knockout mouse. Kidney Int 60: 910-923.

  78. Wang L, Raikwar N, Yang M, Deng L, McAteer JA, Stambrook PJ, Sahota A, Tischfield JA (2002). Induction of α-catenin, integrin α3, integrin β6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells. Expt Nephrol 10: 365-373.

  79. Tzortzaki EG, Glass D, Yang M, Evan AP, Bledsoe SB, Stambrook PJ, Sahota A, Tischfield JA. Gender- and age-dependent changes in kidney androgen protein mRNA expression in a knockout mouse model for nephrolithiasis. J Histochem Cytochem  (in press).

  80. Tzortzaki EG, Yang M, Glass D, Deng L, Evan AP, Bledsoe SB, Stambrook PJ, Sahota A, Tischfield JA. Impaired expression of an organic cation transporter, IMPT1, in a knockout mouse model for kidney stone disease. Re-submitted to Urol Res.

  81. Tzortzaki EG, Glass D, Yang M, Evan AP, Bledsoe SB, Stambrook PJ, Sahota A, Tischfield JA. Expression and cellular localization of inhibitors and promoters of tissue injury in a knockout mouse model for nephrolithiasis (submitted).

Books and book chapters

  1. Taylor MW, Sahota A (1989). Cellular resistance to adenine analogues. In "Drug resistance in mammalian cells (Vol 1): Antimetabolites and cytotoxic analogs" (Gupta RS, Ed), CRC Press, Boca Raton, Florida, pp 111-124.

  2. Sahota A, Taylor MW (Eds) (1994). Advances in experimental medicine and biology (Vol 370), Plenum Press, New York.

  3. Simmonds HA, Sahota AS, Van Acker KJ (1995). Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In "The metabolic and molecular bases of inherited disease", 7th ed (Scriver CR et al, Eds), McGraw-Hill, New York, pp 1029-1044. Also 6th ed (1989) and CD-ROM ed (1997).

  4. Sahota AS, Tischfield JA, Kamatani N, Simmonds HA (2001). Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In "The metabolic and molecular bases of inherited disease", 8th ed (Scriver CR et al, Eds), McGraw-Hill, New York, pp 2571-2584.

 
Updated Date
08/11/2008

 

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