William S Oetting

Summary

Affiliation: University of Minnesota
Country: USA

Publications

  1. ncbi Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, MN, USA
    Hum Mutat 12:434. 1998
  2. ncbi Albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Curr Opin Pediatr 11:565-71. 1999
  3. ncbi Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online
    W S Oetting
    Department of Medicine, University of Minnesota 55455, Minneapolis, MN, USA
    Hum Mutat 12:433-4. 1998
  4. ncbi Gene expression analysis
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Pigment Cell Res 13:21-7. 2000
  5. ncbi The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Pigment Cell Res 13:320-5. 2000
  6. ncbi Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN)
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis, Minnesota, 55455, USA
    Ophthalmic Genet 21:227-33. 2000
  7. ncbi Molecular analysis of an extended Palestinian family from Israel with monilethrix
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Genet Med 1:109-11. 1999
  8. ncbi 2005 Human Genome Variation Society Scientific Meeting
    William S Oetting
    Department of Medicine, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Hum Mutat 27:286-9. 2006
  9. ncbi The 2004 Human Genome Variation Society scientific meeting
    William S Oetting
    Department ofMedicine, Genetics and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
    Hum Mutat 26:160-3. 2005
  10. ncbi Oculocutaneous albinism type 1: the last 100 years
    William S Oetting
    Department of Medicine, University of Minnesota, Minneapolis, MN, USA
    Pigment Cell Res 16:307-11. 2003

Research Grants

  1. CORE--GENOTYPING
    William Oetting; Fiscal Year: 2006

Collaborators

Detail Information

Publications67

  1. ncbi Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, MN, USA
    Hum Mutat 12:434. 1998
    ..Further mutational analysis is needed to help define the critical functional domains of the P protein and to allow a definitive diagnosis of OCA2...
  2. ncbi Albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Curr Opin Pediatr 11:565-71. 1999
    ..Analysis of mutations in these seven genes has revealed that the phenotypic spectrum associated with albinism is broad, making molecular analysis an important part in the accurate diagnosis of this disease...
  3. ncbi Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online
    W S Oetting
    Department of Medicine, University of Minnesota 55455, Minneapolis, MN, USA
    Hum Mutat 12:433-4. 1998
    ..Mutational analysis can provide a definitive diagnosis of the type of OCA as well as help structure/function analysis...
  4. ncbi Gene expression analysis
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Pigment Cell Res 13:21-7. 2000
    ..Three techniques, two-dimensional gel electrophoresis, differential display, and gene discovery arrays, provide opportunities for measuring changes in gene expression levels, as well as for identifying novel gene products...
  5. ncbi The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Pigment Cell Res 13:320-5. 2000
    ..Several questions still remain, including cryptic mutations that affect tyrosinase activity and the minimum amount of pigment required for normal optic development. The next 10 years should prove just as exciting as the last...
  6. ncbi Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN)
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis, Minnesota, 55455, USA
    Ophthalmic Genet 21:227-33. 2000
    ..82, straight theta=0.0, for marker D6S459 located at 6p12, thus excluding the chromosome 6 locus. This provides evidence for at least a fourth locus associated with CN...
  7. ncbi Molecular analysis of an extended Palestinian family from Israel with monilethrix
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Genet Med 1:109-11. 1999
    ..The family in our study provides further evidence that mutations of the hHb6 gene are responsible for monilethrix...
  8. ncbi 2005 Human Genome Variation Society Scientific Meeting
    William S Oetting
    Department of Medicine, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Hum Mutat 27:286-9. 2006
    ..The human genome era is moving into a new phase, and these talks are representative of the new directions in which the study of human DNA variation is going in this exciting area of research...
  9. ncbi The 2004 Human Genome Variation Society scientific meeting
    William S Oetting
    Department ofMedicine, Genetics and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
    Hum Mutat 26:160-3. 2005
    ..New mutation detection methods and methods to identify the effect of a mutation on phenotype were also presented. This meeting report summarizes these presentations...
  10. ncbi Oculocutaneous albinism type 1: the last 100 years
    William S Oetting
    Department of Medicine, University of Minnesota, Minneapolis, MN, USA
    Pigment Cell Res 16:307-11. 2003
    ..Though much of the research in albinism has involved OCA1, there are many unanswered questions about OCA1 and albinism, in general. The next 100 yr should still provide many surprises as did the first 100 yr...
  11. ncbi P gene mutations associated with oculocutaneous albinism type II (OCA2)
    William S Oetting
    Department of Medicine, Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Hum Mutat 25:323. 2005
    ..This information will also help define the critical functional domains of the P protein. Mutations associated with OCA2 can be found in the Albinism Database (http://albinismdb.med.umn.edu)...
  12. ncbi The 2006 Human Genome Variation Society scientific meeting
    William S Oetting
    School of Pharmacy, University of Minnesota, Minneapolis, Minnesota, USA
    Hum Mutat 28:517-21. 2007
    ..These talks are representative of the questions, problems, and solutions that are being considered by researchers involved in the study of variation in the human genome...
  13. ncbi Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detection
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Electrophoresis 19:3079-83. 1998
    ..The STRP banding pattern is detected using an automated fluorescent DNA sequencer. Use of this multiplexed genomic screening set should greatly enhance the mapping of human disease loci...
  14. ncbi The clinical spectrum of albinism in humans
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Mol Med Today 2:330-5. 1996
    ..Analysis of these mutations might provide the insight that we need to understand the interaction between the pigment system and the development of the optic system...
  15. pmc Genetic and clinical determinants of early, acute calcineurin inhibitor-related nephrotoxicity: results from a kidney transplant consortium
    Pamala A Jacobson
    Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
    Transplantation 93:624-31. 2012
    ..Clinical factors and elevated CNI levels are associated with nephrotoxicity; however, they do not fully explain the risk. Genetic factors may also predispose individuals to nephrotoxicity...
  16. pmc Validation of tacrolimus equation to predict troughs using genetic and clinical factors
    Chaitali Passey
    Department of Experimental and Clinical Pharmacology, 717 Delaware Street, University of Minnesota, Minneapolis, MN 55455, USA
    Pharmacogenomics 13:1141-7. 2012
    ..Tacrolimus is an immunosuppressant used in transplantation. This article reports the validation of the authors' recently developed genetics-based tacrolimus equation that predicts troughs...
  17. doi The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
    William S Oetting
    Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Am J Med Genet A 149:466-9. 2009
    ..We conclude that the codon 402 variant of the tyrosinase gene is not associated with albinism...
  18. ncbi Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype
    Richard A King
    Department of Medicine, University of Minnesota, Minneapolis, Minn 55455, USA
    Hum Genet 113:502-13. 2003
    ....
  19. pmc Novel polymorphisms associated with tacrolimus trough concentrations: results from a multicenter kidney transplant consortium
    Pamala A Jacobson
    Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
    Transplantation 91:300-8. 2011
    ..Although its effect is important, it incompletely explains the variability in tacrolimus concentrations and has a relatively low minor allele frequency in whites relative to African Americans (AA)...
  20. pmc Inflammation in the setting of chronic allograft dysfunction post-kidney transplant: phenotype and genotype
    Ajay K Israni
    Nephrology Division, Department of Medicine, Hennepin County Medical Center, University of Minnesota, Minneapolis, MN 55415 1829, USA
    Clin Transplant 27:348-58. 2013
    ..Chronic allograft dysfunction (CGD) is a common outcome in kidney transplants, but its pathogenesis is unclear. We investigated the CGD phenotype and single-nucleotide polymorphisms (SNPs) associated with CGD...
  21. pmc Donor polymorphisms of toll-like receptor 4 associated with graft failure in liver transplant recipients
    William S Oetting
    College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
    Liver Transpl 18:1399-405. 2012
    ..Donor polymorphisms in TLR4 could be important factors in modulating TLR4 activity and, therefore, affect the risk of graft loss. Additionally, there is a suggestion of an interaction between polymorphisms within TLR4 and the HCV status...
  22. pmc Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation
    Pamala A Jacobson
    Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
    Transplantation 91:309-16. 2011
    ..Toxicity leads to dose reduction, addition of colony-stimulating factors or erythropoietin, or discontinuation of immunosuppressive therapy. The causes of and risk factors associated with toxicity are unclear...
  23. pmc Developmental trajectory and environmental moderation of the effect of ALDH2 polymorphism on alcohol use
    Daniel E Irons
    Department of Psychology, University of Minnesota, 75 East River Road, Minneapolis, MN 55455, USA
    Alcohol Clin Exp Res 36:1882-91. 2012
    ..However, relatively few studies have considered whether the magnitude of the effect of ALDH2 polymorphism upon drinking is related to developmental stage or varies by environmental context...
  24. pmc Validation of genetic variants associated with early acute rejection in kidney allograft transplantation
    William S Oetting
    Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
    Clin Transplant 26:418-23. 2012
    ..The lack of validation for the other 19 variants may be due to the small effect size, or that, they are not associated with AR. These results stress the need for larger cohorts for both future studies as well as for validation studies...
  25. pmc Dosing equation for tacrolimus using genetic variants and clinical factors
    Chaitali Passey
    Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
    Br J Clin Pharmacol 72:948-57. 2011
    ..To develop a dosing equation for tacrolimus, using genetic and clinical factors from a large cohort of kidney transplant recipients. Clinical factors and six genetic variants were screened for importance towards tacrolimus clearance (CL/F)...
  26. pmc A genome-wide association study of behavioral disinhibition
    Matt McGue
    Minnesota Center for Twin and Family Research, Department of Psychology, University of Minnesota, Elliott Hall, Minneapolis, MN 55455, USA
    Behav Genet 43:363-73. 2013
    ....
  27. pmc Validation of single nucleotide polymorphisms associated with acute rejection in kidney transplant recipients using a large multi-center cohort
    William S Oetting
    College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
    Transpl Int 24:1231-8. 2011
    ..Our results suggest that careful validation of previously reported associations with AR is necessary, and different strategies other than candidate gene studies can help to identify causative genetic variants associated with AR...
  28. pmc MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)
    Richard A King
    Department of Genetics, University of Minnesota, Minneapolis, MN, 55455, USA
    Am J Hum Genet 73:638-45. 2003
    ..This is the first demonstration of a gene modifying the OCA phenotype in humans...
  29. pmc Tacrolimus trough levels after month 3 as a predictor of acute rejection following kidney transplantation: a lesson learned from DeKAF Genomics
    Ajay K Israni
    Nephrology Division, Department of Medicine, Hennepin County Medical Center, University of Minnesota, Minneapolis, MN, USA Department of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN, USA
    Transpl Int 26:982-9. 2013
    ..The timing and practice of TAC dose reduction should be personalized based on the individual's risk factors. ..
  30. pmc The Minnesota Center for Twin and Family Research genome-wide association study
    Michael B Miller
    Department of Psychology, University of Minnesota, Minneapolis, MN, USA
    Twin Res Hum Genet 15:767-74. 2012
    ..The rich longitudinal MCTFR assessments provide numerous opportunities for collaboration...
  31. pmc Multilocus association testing with penalized regression
    Saonli Basu
    Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, MN 55455, USA
    Genet Epidemiol 35:755-65. 2011
    ..In addition, in penalized regression, rather than building a test based on a single selected "best" model, combining multiple tests, each of which is built on a candidate model, might be more promising...
  32. ncbi Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism
    R A King
    Department of Medicine, University of Minnesota, Minneapolis 55455
    Mol Biol Med 8:19-29. 1991
    ..We conclude that analysis of the tyrosinase missense mutations will provide insight into the structure-function relationship of this enzyme...
  33. ncbi X-linked high myopia associated with cone dysfunction
    Terri L Young
    Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
    Arch Ophthalmol 122:897-908. 2004
    ..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
  34. doi Impact of next generation sequencing: the 2009 Human Genome Variation Society Scientific Meeting
    William S Oetting
    College of Pharmacy and Institute of Human Genetics, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Hum Mutat 31:500-3. 2010
    ..With the combined efforts of investigators using next-generation sequencing to help understand the impact of genetic variants on disease, the use of the personal genome in medicine will soon become a reality...
  35. pmc Urinary Peptide patterns in native kidneys and kidney allografts
    Yan Zhang
    Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN 55455, USA
    Transplantation 87:1807-13. 2009
    ..Consequently, a noninvasive test for transplanted kidney health would provide a significant advantage over current clinical practice...
  36. pmc Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation
    Ajay Israni
    Department of Nephrology, Hennepin County Medical Center, University of Minnesota, Minneapolis, MN, USA
    Transplantation 90:1401-8. 2010
    ..Therefore, this study investigated single-nucleotide polymorphisms (SNPs) to identify genetic variants associated with AR, accounting for center variation, in a multicenter, prospective, observation study...
  37. ncbi Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455
    Hum Mutat 2:1-6. 1993
    ..Six polymorphic sites for haplotype analysis have been identified in the tyrosinase gene including 2 in the promoter region, 2 in the coding region associated with alternative amino acids in the protein, and 2 RFLPs in the first intron...
  38. pmc A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2
    S C Wildenberg
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Am J Hum Genet 57:755-65. 1995
    ..07 at theta = .001 was calculated for marker D10S198. Haplotype analysis places the HPS gene in a region of approximately 14 cM that contains the markers D10S198 and D10S1239...
  39. pmc High-order SNP combinations associated with complex diseases: efficient discovery, statistical power and functional interactions
    Gang Fang
    Department of Computer Science, University of Minnesota, Minneapolis, Minnesota, United States of America
    PLoS ONE 7:e33531. 2012
    ..Thus, our approach is an alternative methodology for exploring the genetics of rare diseases for which the current focus is on individually rare variations...
  40. pmc A dimension reduction approach for modeling multi-locus interaction in case-control studies
    Saonli Basu
    Division of Biostatistics, University of Minnesota, Minneapolis, USA saonli umn edu
    Hum Hered 71:234-45. 2011
    ..Our proposed approach appeared to outperform the other approaches for independent SNPs in our simulation studies...
  41. ncbi Mendelian randomization: a novel test of the gateway hypothesis and models of gene-environment interplay
    Daniel E Irons
    Department of Psychology, University of Minnesota, 75 East River Road, Minneapolis, MN 55455, USA
    Dev Psychopathol 19:1181-95. 2007
    ....
  42. pmc Linkage analysis of a cluster-based quantitative phenotype constructed from pulmonary function test data in 27 multigenerational families with multiple asthmatic members
    Cavan Reilly
    Division of Biostatistics, School of Public Health, University of Minnesota, Minneapolis, Minn, USA
    Hum Hered 64:136-45. 2007
    ....
  43. ncbi Identification and characterization of a DNase hypersensitive region of the human tyrosinase gene
    James P Fryer
    Department of Medicine and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
    Pigment Cell Res 16:679-84. 2003
    ..We believe that this region of homology contains sequences critical in the regulation of the human tyrosinase gene and is a candidate for the location of OCA1 mutations...
  44. pmc A second locus for familial high myopia maps to chromosome 12q
    T L Young
    Department of Opthalmology, Division of Epidemiology, University of Minnesota, Minneapolis, MN, USA
    Am J Hum Genet 63:1419-24. 1998
    ..1-cM interval on chromosome 12q21-23, for the second myopia gene. These results confirm genetic heterogeneity of myopia. The identification of this gene may provide insight into the pathophysiology of myopia and eye development...
  45. pmc Evidence that a locus for familial high myopia maps to chromosome 18p
    T L Young
    Department of Ophthalmology, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 63:109-19. 1998
    ..The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31...
  46. pmc Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455
    Am J Hum Genet 49:199-206. 1991
    ..These five different mutations disrupt tyrosinase function and are associated with a total lack of melanin biosynthesis...
  47. doi Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project
    William S Oetting
    Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN, USA
    Hum Mutat 34:661-6. 2013
    ..Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort toward this important goal...
  48. ncbi Paradoxical urinary phenytoin metabolite (S)/(R) ratios in CYP2C19*1/*2 patients
    Upendra A Argikar
    Department of Medicinal Chemistry, College of Pharmacy, University of Minnesota, Minneapolis, MN 55414, USA
    Epilepsy Res 71:54-63. 2006
    ..Furthermore, our study suggests that measurement of urine ratios cannot be used as a marker for genotype determination...
  49. ncbi New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene
    William S Oetting
    Department of Medicine and Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota, USA
    Hum Mutat 19:85-92. 2002
    ..Mutation and polymorphism data on this gene is available from the International Albinism Center - Albinism Database web site (http://www.cbc.umn.edu/tad)...
  50. ncbi Variations in the catechol O-methyltransferase polymorphism and prefrontally guided behaviors in adolescents
    Dustin Wahlstrom
    Department of Psychology, Center for Neurobehavorial Development, University of Minnesota Twin Cities, Minneapolis, Minnesota 55455, USA
    Biol Psychiatry 61:626-32. 2007
    ..These genotypic variations and their associations with executive functions have been described in adults and prepubescent children, but there is a paucity of research assessing these relations in adolescent samples...
  51. doi Large scale DNA sequencing: new challenges emerge--the 2007 Human Genome Variation Society scientific meeting
    William S Oetting
    School of Pharmacy, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Hum Mutat 29:765-8. 2008
    ..For the technology to be useful in a medical setting it will be crucial to answer to these questions...
  52. pmc Power of multifactor dimensionality reduction and penalized logistic regression for detecting gene-gene interaction in a case-control study
    Hua He
    Division of Biostatistics, School of Public Health, University of Minnesota, Minnesota, USA
    BMC Med Genet 10:127. 2009
    ..On the other hand, the Multifactor Dimensionality Reduction (MDR) is a nonparametric and genetic model-free approach to detect genotype combinations associated with disease risk...
  53. pmc Differential genotype dependent inhibition of CYP2C9 in humans
    Vikas Kumar
    Department of Experimental and Clinical Pharmacology, College of Pharmacy, University of Minnesota, Minneapolis, MN 55455, USA
    Drug Metab Dispos 36:1242-8. 2008
    ..In summary, the presence of CYP2C9(*)3 alleles (either one or two alleles) can alter the degree of drug interaction observed upon coadministration of inhibitors...
  54. ncbi Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455
    Hum Genet 90:258-62. 1992
    ..Small deletions or insertions resulting in frameshift mutations and nonsense mutations are distributed throughout the coding region and do not appear to cluster...
  55. ncbi Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455, USA
    Hum Mutat 13:99-115. 1999
    ..Mutation and polymorphism data on these genes are available from the International Albinism Center Albinism Database web site (http://www.cbc.umn.edu/tad)...
  56. ncbi Evolution of the tyrosinase related gene (TYRL) in primates
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455
    Pigment Cell Res 6:171-7. 1993
    ..We have also found that the gorilla but not the chimpanzee contains a TYRL locus similar to the human TYRL locus...
  57. ncbi Diagnosis of oculocutaneous albinism with molecular analysis
    C G Summers
    Department of Ophthalmology, University of Minnesota, USA
    Am J Ophthalmol 121:724-6. 1996
    ..To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation...
  58. doi Pharmacogenetic effect of the UGT polymorphisms on mycophenolate is modified by calcineurin inhibitors
    L aurelle A Johnson
    Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN 55455, USA
    Eur J Clin Pharmacol 64:1047-56. 2008
    ..These enzymes are highly polymorphic resulting in low activity and high expression phenotypes. We hypothesized that polymorphisms of UGT1A9 and 1A8 may alter MPA pharmacokinetics in kidney transplantation...
  59. doi Clinical genetics & human genome variation: the 2008 Human Genome Variation Society scientific meeting
    William S Oetting
    School of Pharmacy, University of Minnesota, Minneapolis, Minnesota, USA
    Hum Mutat 30:852-6. 2009
    ..These topics and others were discussed in this year's meeting...
  60. ncbi Molecular basis of oculocutaneous albinism
    W S Oetting
    Department of Medicine, University of Minnesota, Minneapolis 55455
    J Invest Dermatol 103:131S-136S. 1994
    ..Further, the analysis of these genes and their mutations will provide information on the role of these gene products in melanin biosynthesis and the effect specific mutations have on the pathogenesis of albinism...
  61. pmc Temporal stability of the urinary proteome after kidney transplant: more sensitive than protein composition?
    Sanjeev K Akkina
    Department of Medicine, University of Minnesota, Minneapolis, Minnesota 55455, USA
    J Proteome Res 8:94-103. 2009
    ..Longitudinal study of urinary proteins from kidney recipients may demonstrate instability as a sensitive biomarker of adverse kidney health...
  62. doi Exploring the functional consequences of genomic variation: the 2010 Human Genome Variation Society Scientific Meeting
    William S Oetting
    College of Pharmacy, Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, Minneapolis 55455, USA
    Hum Mutat 32:486-90. 2011
    ..The 2010 annual meeting of the HGVS focused on methods being designed for this purpose...
  63. ncbi Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico
    S C Wildenberg
    Department of Medicine, Institute of Human Genetics University of Minnesota, UMHC, Minneapolis, USA
    J Invest Dermatol 110:777-81. 1998
    ..These studies show that the HPS gene on chromosome 10 is complex and may have more than one biologically active transcript...
  64. ncbi Alternative splicing of the tyrosinase gene transcript in normal human melanocytes and lymphocytes
    J P Fryer
    Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    J Invest Dermatol 117:1261-5. 2001
    ....
  65. ncbi Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR)
    Philip A Chan
    Vermont Cancer Center, University of Vermont, Burlington, Vermont, USA
    Hum Mutat 28:683-93. 2007
    ..The results support the clinical use of computational methods as one tool to help interpret missense variants in genes associated with human genetic disease...
  66. ncbi A call for mutations
    Richard G H Cotton
    Genet Med 7:370. 2005
  67. ncbi Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXX
    Orit Reish
    Genetic Institute, Assaf Harofeh Medical Center, Zerifin, Israel
    Chromosome Res 12:125-32. 2004
    ..This information may contribute to further understanding of mechanisms leading to X chromosome non-disjunction and may assist in counseling of families with this chromosomal rearrangement...

Research Grants1

  1. CORE--GENOTYPING
    William Oetting; Fiscal Year: 2006
    ..abstract_text> ..