Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
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Richard Andrew Spritz

TitleProfessor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone303/724-3107

    Collapse Research 
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    R01AR039892     (SPRITZ, RICHARD A)Mar 1, 1989 - Jun 30, 2007
    NIH/NIAMS
    STUDIES OF HUMAN PIGMENTATION DISORDERS
    Role: Principal Investigator

    R01AR045584     (SPRITZ, RICHARD ANDREW)Sep 1, 1999 - Jun 30, 2015
    NIH/NIAMS
    Vitiligo
    Role: Principal Investigator

    S10RR014855     (SPRITZ, RICHARD A)Apr 1, 2000 - Mar 31, 2001
    NIH/NCRR
    A GENECHIP INSTRUMENT SYSTEM: GENE MAPPING CORE FACILITY
    Role: Principal Investigator

    R01DE013571     (SPRITZ, RICHARD A)Sep 1, 2000 - Aug 31, 2004
    NIH/NIDCR
    GENETIC STUDIES OF MARGARITA ISLAND ECTODERMAL DYSPLASIA
    Role: Principal Investigator

    R01DE015191     (SPRITZ, RICHARD A)Apr 18, 2003 - Mar 31, 2009
    NIH/NIDCR
    GENE DISCOVERY FOR CRANIOFACIAL DISORDERS
    Role: Principal Investigator

    R01EY015626     (SPRITZ, RICHARD A)Jun 1, 2004 - May 31, 2007
    NIH/NEI
    Missing Mutations in Oculocutaneous and Ocular Albinism
    Role: Principal Investigator

    R01AR056292     (SPRITZ, RICHARD ANDREW)Sep 11, 2008 - Jun 30, 2017
    NIH/NIAMS
    Genetic studies of vitiligo
    Role: Principal Investigator

    U01DE020054     (SPRITZ, RICHARD ANDREW)Sep 21, 2009 - Apr 30, 2015
    NIH/NIDCR
    Genetic Determinants of Orofacial Shape and Relationship to Cleft Lip/Palate
    Role: Principal Investigator

    R01AR065951     (SPRITZ, RICHARD ANDREW)Apr 1, 2014 - Mar 31, 2017
    NIH/NIAMS
    Identification and Functional Analyses of Common and Rare Causal Variants in SLA
    Role: Principal Investigator

    U01DE024440     (SPRITZ, RICHARD ANDREW)May 16, 2014 - Apr 30, 2019
    NIH/NIDCR
    Developing 3D Craniofacial Morphometry Data and Tools to Transform Dysmorphology
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Shah K, Ferrara TM, Jan A, Umair M, Khan S, Ahmad W, Spritz RA. Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing. Br J Dermatol. 2017 Aug; 177(2):546-548. PMID: 27681482.
      View in: PubMed
    2. Spritz RA, Andersen GH. Genetics of Vitiligo. Dermatol Clin. 2017 Apr; 35(2):245-255. PMID: 28317533.
      View in: PubMed
    3. Hooper JE, Feng W, Li H, Leach SM, Phang T, Siska C, Jones KL, Spritz RA, Hunter LE, Williams T. Systems biology of facial development: contributions of ectoderm and mesenchyme. Dev Biol. 2017 Jun 01; 426(1):97-114. PMID: 28363736.
      View in: PubMed
    4. Zhai Z, Liu W, Kaur M, Luo Y, Domenico J, Samson JM, Shellman YG, Norris DA, Dinarello CA, Spritz RA, Fujita M. NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing apoptosis in metastatic melanoma. Oncogene. 2017 Jul 06; 36(27):3820-3830. PMID: 28263976.
      View in: PubMed
    5. Pavlicev M, Mitteroecker P, Gonzalez PM, Rolian C, Jamniczky H, Villena FP, Marcucio R, Spritz R, Hallgrimsson B. Development Shapes a Consistent Inbreeding Effect in Mouse Crania of Different Line Crosses. J Exp Zool B Mol Dev Evol. 2016 Dec; 326(8):474-488. PMID: 28097826.
      View in: PubMed
    6. Li M, Cole JB, Manyama M, Larson JR, Liberton DK, Riccardi SL, Ferrara TM, Santorico SA, Bannister JJ, Forkert ND, Spritz RA, Mio W, Hallgrimsson B. Rapid automated landmarking for morphometric analysis of three-dimensional facial scans. J Anat. 2017 Apr; 230(4):607-618. PMID: 28078731.
      View in: PubMed
    7. Cole JB, Manyama M, Larson JR, Liberton DK, Ferrara TM, Riccardi SL, Li M, Mio W, Klein OD, Santorico SA, Hallgrímsson B, Spritz RA. Human Facial Shape and Size Heritability and Genetic Correlations. Genetics. 2017 Feb; 205(2):967-978. PMID: 27974501.
      View in: PubMed
    8. Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet. 2016 Dec 13. PMID: 27965375.
      View in: PubMed
    9. Jin Y, Andersen GH, Santorico SA, Spritz RA. Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo. J Invest Dermatol. 2017 Feb; 137(2):522-524. PMID: 27720759.
      View in: PubMed
    10. Shaffer JR, Orlova E, Lee MK, Leslie EJ, Raffensperger ZD, Heike CL, Cunningham ML, Hecht JT, Kau CH, Nidey NL, Moreno LM, Wehby GL, Murray JC, Laurie CA, Laurie CC, Cole J, Ferrara T, Santorico S, Klein O, Mio W, Feingold E, Hallgrimsson B, Spritz RA, Marazita ML, Weinberg SM. Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. PLoS Genet. 2016 Aug; 12(8):e1006149. PMID: 27560520; PMCID: PMC4999139.
    11. Cole JB, Manyama M, Kimwaga E, Mathayo J, Larson JR, Liberton DK, Lukowiak K, Ferrara TM, Riccardi SL, Li M, Mio W, Prochazkova M, Williams T, Li H, Jones KL, Klein OD, Santorico SA, Hallgrimsson B, Spritz RA. Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape. PLoS Genet. 2016 Aug; 12(8):e1006174. PMID: 27560698; PMCID: PMC4999243.
    12. Gonzalez PN, Pavlicev M, Mitteroecker P, Pardo-Manuel de Villena F, Spritz RA, Marcucio RS, Hallgrímsson B. Genetic structure of phenotypic robustness in the collaborative cross mouse diallel panel. J Evol Biol. 2016 Sep; 29(9):1737-51. PMID: 27234063; PMCID: PMC5021570 [Available on 09/01/17].
    13. Brinkley JF, Fisher S, Harris MP, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Maas RL, Marazita ML, Selleri L, Spritz RA, van Bakel H, Visel A, Williams TJ, Wysocka J, Chai Y. The FaceBase Consortium: a comprehensive resource for craniofacial researchers. Development. 2016 Jul 15; 143(14):2677-88. PMID: 27287806; PMCID: PMC4958338.
    14. Ben S, Cooper-DeHoff RM, Flaten HK, Evero O, Ferrara TM, Spritz RA, Monte AA. Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. Hum Genomics. 2016 Apr 23; 10:11. PMID: 27108086; PMCID: PMC4842286.
    15. Hayashi M, Jin Y, Yorgov D, Santorico SA, Hagman J, Ferrara TM, Jones KL, Cavalli G, Dinarello CA, Spritz RA. Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo. Proc Natl Acad Sci U S A. 2016 Feb 02; 113(5):1357-62. PMID: 26787886; PMCID: PMC4747738.
    16. Cavalli G, Hayashi M, Jin Y, Yorgov D, Santorico SA, Holcomb C, Rastrou M, Erlich H, Tengesdal IW, Dagna L, Neff CP, Palmer BE, Spritz RA, Dinarello CA. MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo. Proc Natl Acad Sci U S A. 2016 Feb 02; 113(5):1363-8. PMID: 26787888; PMCID: PMC4747741.
    17. Percival CJ, Liberton DK, Pardo-Manuel de Villena F, Spritz R, Marcucio R, Hallgrímsson B. Genetics of murine craniofacial morphology: diallel analysis of the eight founders of the Collaborative Cross. J Anat. 2016 Jan; 228(1):96-112. PMID: 26426826.
      View in: PubMed
    18. Shellman YG, Lambert KA, Brauweiler A, Fain P, Spritz RA, Martini M, Janssen KP, Box NF, Terzian T, Rewers M, Horvath A, Stratakis CA, Robinson WA, Robinson SE, Norris DA, Artinger KB, Pacheco TR. SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. J Invest Dermatol. 2015 Dec; 135(12):3192-3194. PMID: 26203640; PMCID: PMC4648645.
    19. do Rego Borges A, Sá J, Hoshi R, Viena CS, Mariano LC, de Castro Veiga P, Medrado AP, Machado RA, de Aquino SN, Messetti AC, Spritz RA, Coletta RD, Reis SR. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry. Am J Med Genet A. 2015 Oct; 167A(10):2344-9. PMID: 26198054.
      View in: PubMed
    20. Jin Y, Hayashi M, Fain PR, Suzuki T, Fukai K, Oiso N, Tanemura A, Holcomb CL, Rastrou M, Erlich HA, Spritz RA. Major association of vitiligo with HLA-A*02:01 in Japanese. Pigment Cell Melanoma Res. 2015 May; 28(3):360-2. PMID: 25645285; PMCID: PMC4397141.
    21. Chang D, Gao F, Slavney A, Ma L, Waldman YY, Sams AJ, Billing-Ross P, Madar A, Spritz R, Keinan A. Accounting for eXentricities: analysis of the X chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases. PLoS One. 2014; 9(12):e113684. PMID: 25479423; PMCID: PMC4257614.
    22. Green RM, Feng W, Phang T, Fish JL, Li H, Spritz RA, Marcucio RS, Hooper J, Jamniczky H, Hallgrímsson B, Williams T. Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage. Dis Model Mech. 2015 Jan; 8(1):31-43. PMID: 25381013; PMCID: PMC4283648.
    23. Hallgrimsson B, Mio W, Marcucio RS, Spritz R. Let's face it--complex traits are just not that simple. PLoS Genet. 2014 Nov; 10(11):e1004724. PMID: 25375250; PMCID: PMC4222688.
    24. Manyama M, Larson JR, Liberton DK, Rolian C, Smith FJ, Kimwaga E, Gilyoma J, Lukowiak KD, Spritz RA, Hallgrimsson B. Facial morphometrics of children with non-syndromic orofacial clefts in Tanzania. BMC Oral Health. 2014 Jul 29; 14:93. PMID: 25070002; PMCID: PMC4118654.
    25. Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M, Wang Z, Boekelheide A, Langham M, Mushegyan V, Oberoi S, Brao R, Wen T, Johnson R, Huttner K, Grange DK, Spritz RA, Hallgrímsson B, Jheon AH, Klein OD. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2014 Sep; 2(5):422-9. PMID: 25333067; PMCID: PMC4190877.
    26. Lazova R, Laberge GS, Duvall E, Spoelstra N, Klump V, Sznol M, Cooper D, Spritz RA, Chang JT, Pawelek JM. A Melanoma Brain Metastasis with a Donor-Patient Hybrid Genome following Bone Marrow Transplantation: First Evidence for Fusion in Human Cancer. PLoS One. 2013; 8(6):e66731. PMID: 23840523; PMCID: PMC3694119.
    27. Spritz RA. Modern vitiligo genetics sheds new light on an ancient disease. J Dermatol. 2013 May; 40(5):310-8. PMID: 23668538; PMCID: PMC3783942.
    28. Levandowski CB, Mailloux CM, Ferrara TM, Gowan K, Ben S, Jin Y, McFann KK, Holland PJ, Fain PR, Dinarello CA, Spritz RA. NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1ß processing via the NLRP1 inflammasome. Proc Natl Acad Sci U S A. 2013 Feb 19; 110(8):2952-6. PMID: 23382179; PMCID: PMC3581876.
    29. Ferrara TM, Jin Y, Gowan K, Fain PR, Spritz RA. Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B). J Invest Dermatol. 2013 Jun; 133(6):1677-9. PMID: 23321921; PMCID: PMC3634907.
    30. Biggins SW, Trotter J, Gralla J, Burton JR, Bambha KM, Dodge J, Brocato M, Cheng L, McQueen M, Forman L, Chang M, Kam I, Everson G, Spritz RA, Klintmalm G, Rosen HR. Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation. J Hepatol. 2013 May; 58(5):969-76. PMID: 23333445; PMCID: PMC3878646.
    31. Birlea SA, Ahmad FJ, Uddin RM, Ahmad S, Pal SS, Begum R, Laddha NC, Dwivedi M, Shoab Mansuri M, Jin Y, Gowan K, Riccardi SL, Holland PJ, Ben S, Fain PR, Spritz RA. Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. J Invest Dermatol. 2013 May; 133(5):1369-72. PMID: 23303446; PMCID: PMC3626744.
    32. Luo Y, Ellis LZ, Dallaglio K, Takeda M, Robinson WA, Robinson SE, Liu W, Lewis KD, McCarter MD, Gonzalez R, Norris DA, Roop DR, Spritz RA, Ahn NG, Fujita M. Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance. J Invest Dermatol. 2012 Oct; 132(10):2440-2450. PMID: 22622430; PMCID: PMC3434242.
    33. Jin Y, Birlea SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten RM, Wolkerstorfer A, van der Veen JP, Hartmann A, Eichner S, Schuler G, van Geel N, Lambert J, Kemp EH, Gawkrodger DJ, Weetman AP, Taïeb A, Jouary T, Ezzedine K, Wallace MR, McCormack WT, Picardo M, Leone G, Overbeck A, Silverberg NB, Spritz RA. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet. 2012 May 06; 44(6):676-80. PMID: 22561518; PMCID: PMC3366044.
    34. Ezzedine K, Lim HW, Suzuki T, Katayama I, Hamzavi I, Lan CC, Goh BK, Anbar T, Silva de Castro C, Lee AY, Parsad D, van Geel N, Le Poole IC, Oiso N, Benzekri L, Spritz R, Gauthier Y, Hann SK, Picardo M, Taieb A. Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference. Pigment Cell Melanoma Res. 2012 May; 25(3):E1-13. PMID: 22417114; PMCID: PMC3511780.
    35. Jin Y, Ferrara T, Gowan K, Holcomb C, Rastrou M, Erlich HA, Fain PR, Spritz RA. Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation. J Invest Dermatol. 2012 Jun; 132(6):1730-3. PMID: 22402439; PMCID: PMC3513338.
    36. Spritz RA. The genetics of vitiligo. J Invest Dermatol. 2011 Nov 17; 131(E1):E18-20. PMID: 22094401; PMCID: PMC3513341.
    37. Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatol Online J. 2011 Nov 15; 17(11):13. PMID: 22136869.
      View in: PubMed
    38. Spritz RA. Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis. J Invest Dermatol. 2012 Feb; 132(2):268-73. PMID: 21993561; PMCID: PMC3258303.
    39. Weatherley-White RC, Ben S, Jin Y, Riccardi S, Arnold TD, Spritz RA. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort. Am J Med Genet A. 2011 Oct; 155A(10):2422-25. PMID: 22043487.
      View in: PubMed
    40. Spritz RA. Recent progress in the genetics of generalized vitiligo. J Genet Genomics. 2011 Jul 20; 38(7):271-8. PMID: 21777851; PMCID: PMC3513342.
    41. Hochheiser H, Aronow BJ, Artinger K, Beaty TH, Brinkley JF, Chai Y, Clouthier D, Cunningham ML, Dixon M, Donahue LR, Fraser SE, Hallgrimsson B, Iwata J, Klein O, Marazita ML, Murray JC, Murray S, de Villena FP, Postlethwait J, Potter S, Shapiro L, Spritz R, Visel A, Weinberg SM, Trainor PA. The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. Dev Biol. 2011 Jul 15; 355(2):175-82. PMID: 21458441; PMCID: PMC3440302.
    42. Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. J Invest Dermatol. 2011 Jun; 131(6):1308-12. PMID: 21326295; PMCID: PMC3172680.
    43. Birlea SA, Jin Y, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Fain PR, Spritz RA. Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J Invest Dermatol. 2011 Feb; 131(2):371-81. PMID: 21085187; PMCID: PMC3172683.
    44. Spritz RA. The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma. Genome Med. 2010 Oct 19; 2(10):78. PMID: 20959028; PMCID: PMC2988443.
    45. Spritz RA. Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease. Thyroid. 2010 Jul; 20(7):745-54. PMID: 20578892; PMCID: PMC2935342.
    46. Jin Y, Birlea SA, Fain PR, Mailloux CM, Riccardi SL, Gowan K, Holland PJ, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet. 2010 Jul; 42(7):576-8. PMID: 20526340; PMCID: PMC2893242.
    47. Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM, Sufit AJ, Hutton SM, Amadi-Myers A, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med. 2010 May 06; 362(18):1686-97. PMID: 20410501; PMCID: PMC2891985.
    48. Feng W, Leach SM, Tipney H, Phang T, Geraci M, Spritz RA, Hunter LE, Williams T. Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences. PLoS One. 2009 Dec 16; 4(12):e8066. PMID: 20016822; PMCID: PMC2789411.
    49. Birlea SA, Gowan K, Fain PR, Spritz RA. Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. J Invest Dermatol. 2010 Mar; 130(3):798-803. PMID: 19890347; PMCID: PMC3511589.
    50. Sözen MA, Hecht JT, Spritz RA. Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. Genet Test Mol Biomarkers. 2009 Oct; 13(5):617-21. PMID: 19715471; PMCID: PMC2953240.
    51. Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA. Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J Invest Dermatol. 2010 Mar; 130(3):774-83. PMID: 19727120; PMCID: PMC3513759.
    52. Sözen MA, Hecht JT, Spritz RA. Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate. Genet Mol Biol. 2009 Jul; 32(3):466-9. PMID: 21637507; PMCID: PMC3036061.
    53. Sözen MA, Tolarova MM, Spritz RA. The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela. J Genet Genomics. 2009 May; 36(5):283-8. PMID: 19447376.
      View in: PubMed
    54. Leach SM, Tipney H, Feng W, Baumgartner WA, Kasliwal P, Schuyler RP, Williams T, Spritz RA, Hunter L. Biomedical discovery acceleration, with applications to craniofacial development. PLoS Comput Biol. 2009 Mar; 5(3):e1000215. PMID: 19325874; PMCID: PMC2653649.
    55. Boissy RE, Spritz RA. Frontiers and controversies in the pathobiology of vitiligo: separating the wheat from the chaff. Exp Dermatol. 2009 Jul; 18(7):583-5. PMID: 19320739; PMCID: PMC2745236.
    56. Tipney HJ, Leach SM, Feng W, Spritz R, Williams T, Hunter L. Leveraging existing biological knowledge in the identification of candidate genes for facial dysmorphology. BMC Bioinformatics. 2009 Feb 05; 10 Suppl 2:S12. PMID: 19208187; PMCID: PMC2646237.
    57. Birlea SA, Laberge GS, Procopciuc LM, Fain PR, Spritz RA. CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. Pigment Cell Melanoma Res. 2009 Apr; 22(2):230-4. PMID: 19175525; PMCID: PMC2745263.
    58. Hutton SM, Spritz RA. Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008 Oct; 128(10):2442-50. PMID: 18463683; PMCID: PMC3515683.
    59. Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. Pigment Cell Melanoma Res. 2008 Apr; 21(2):206-8. PMID: 18426414.
      View in: PubMed
    60. Birlea SA, Fain PR, Spritz RA. A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases. Arch Dermatol. 2008 Mar; 144(3):310-6. PMID: 18347286.
      View in: PubMed
    61. Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 2008 Mar; 49(3):868-72. PMID: 18326704.
      View in: PubMed
    62. LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol. 2008 Jul; 128(7):1757-62. PMID: 18200060.
      View in: PubMed
    63. Spritz RA. The genetics of generalized vitiligo. Curr Dir Autoimmun. 2008; 10:244-57. PMID: 18460890.
      View in: PubMed
    64. Jin Y, Bennett DC, Amadi-Myers A, Holland P, Riccardi SL, Gowan K, Fain PR, Spritz RA. Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE. Pigment Cell Res. 2007 Oct; 20(5):402-4. PMID: 17850514.
      View in: PubMed
    65. Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. Pigment Cell Res. 2007 Aug; 20(4):271-8. PMID: 17630960.
      View in: PubMed
    66. Jin Y, Birlea SA, Fain PR, Spritz RA. Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol. 2007 Nov; 127(11):2558-62. PMID: 17637824.
      View in: PubMed
    67. Spritz RA, Arnold TD, Buonocore S, Carter D, Fingerlin T, Odero WW, Wambani JO, Tenge RK, Weatherley-White RC. Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya. Cleft Palate Craniofac J. 2007 Jul; 44(4):374-7. PMID: 17608554.
      View in: PubMed
    68. Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007 Mar 22; 356(12):1216-25. PMID: 17377159.
      View in: PubMed
    69. Chintala S, Tan J, Gautam R, Rusiniak ME, Guo X, Li W, Gahl WA, Huizing M, Spritz RA, Hutton S, Novak EK, Swank RT. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood. 2007 Feb 15; 109(4):1533-40. PMID: 17062724; PMCID: PMC1794067.
    70. Spritz RA. "Out, damned spot!". J Invest Dermatol. 2006 May; 126(5):949-51. PMID: 16619012.
      View in: PubMed
    71. Fain PR, Babu SR, Bennett DC, Spritz RA. HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset. Pigment Cell Res. 2006 Feb; 19(1):51-7. PMID: 16420246.
      View in: PubMed
    72. Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90. PMID: 16417222; PMCID: PMC3560388.
    73. Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases. J Dermatol Sci. 2006 Jan; 41(1):3-10. PMID: 16289692.
      View in: PubMed
    74. Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol. 2005 Oct; 125(4):715-20. PMID: 16185271.
      View in: PubMed
    75. Alkhateeb A, Fain PR, Spritz RA. Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Dermatol. 2005 Aug; 125(2):388-91. PMID: 16098053.
      View in: PubMed
    76. Laberge G, Mailloux CM, Gowan K, Holland P, Bennett DC, Fain PR, Spritz RA. Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res. 2005 Aug; 18(4):300-5. PMID: 16029422.
      View in: PubMed
    77. Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A. 2005 Aug 02; 102(31):10964-9. PMID: 16037214; PMCID: PMC1178012.
    78. Akahoshi K, Spritz RA, Fukai K, Mitsui N, Matsushima K, Ohashi H. Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia. Am J Med Genet A. 2004 Apr 30; 126A(3):290-2. PMID: 15054844.
      View in: PubMed
    79. Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome. 2004 Apr; 15(4):307-14. PMID: 15112108.
      View in: PubMed
    80. Spritz RA, Itin PH, Gutmann DH. Piebaldism and neurofibromatosis type 1: horses of very different colors. J Invest Dermatol. 2004 Feb; 122(2):xxxiv-xxxv. PMID: 15009761.
      View in: PubMed
    81. Spritz RA, Gowan K, Bennett DC, Fain PR. Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am J Hum Genet. 2004 Jan; 74(1):188-91. PMID: 14691733; PMCID: PMC1181907.
    82. Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sánchez-García I. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003 Oct 01; 122A(2):125-32. PMID: 12955764.
      View in: PubMed
    83. Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003 Sep; 35(1):84-9. PMID: 12923531; PMCID: PMC2860733.
    84. Alkhateeb A, Fain PR, Thody A, Bennett DC, Spritz RA. Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res. 2003 Jun; 16(3):208-14. PMID: 12753387.
      View in: PubMed
    85. Spritz RA, Chiang PW, Oiso N, Alkhateeb A. Human and mouse disorders of pigmentation. Curr Opin Genet Dev. 2003 Jun; 13(3):284-9. PMID: 12787791.
      View in: PubMed
    86. Fain PR, Gowan K, LaBerge GS, Alkhateeb A, Stetler GL, Talbert J, Bennett DC, Spritz RA. A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci. Am J Hum Genet. 2003 Jun; 72(6):1560-4. PMID: 12707860; PMCID: PMC1180316.
    87. Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem. 2003 May 30; 278(22):20332-7. PMID: 12663659.
      View in: PubMed
    88. Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb; 33(2):145-53. PMID: 12548288.
      View in: PubMed
    89. Suzuki T, Oiso N, Gautam R, Novak EK, Panthier JJ, Suprabha PG, Vida T, Swank RT, Spritz RA. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A. 2003 Feb 04; 100(3):1146-50. PMID: 12538872; PMCID: PMC298741.
    90. Alkhateeb A, Stetler GL, Old W, Talbert J, Uhlhorn C, Taylor M, Fox A, Miller C, Dills DG, Ridgway EC, Bennett DC, Fain PR, Spritz RA. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Hum Mol Genet. 2002 Mar 15; 11(6):661-7. PMID: 11912181.
      View in: PubMed
    91. Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, Regueiro J, Russo C, Uyama E, Vierimaa O, Spritz RA. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet. 2002 Feb 15; 108(1):16-22. PMID: 11857544.
      View in: PubMed
    92. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002 Mar; 30(3):321-4. PMID: 11836498.
      View in: PubMed
    93. Akahoshi K, Fukai K, Kato A, Kimiya S, Kubota T, Spritz RA. Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation. Am J Med Genet. 2001 Dec 15; 104(4):299-302. PMID: 11754064.
      View in: PubMed
    94. Spritz RA. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr. 2001 Dec; 13(6):556-60. PMID: 11753106.
      View in: PubMed
    95. Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics. 2001 Nov; 78(1-2):30-7. PMID: 11707070.
      View in: PubMed
    96. Sözen MA, Suzuki K, Tolarova MM, Bustos T, Fernández Iglesias JE, Spritz RA. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet. 2001 Oct; 29(2):141-2. PMID: 11559849.
      View in: PubMed
    97. Oh J, LeCras TD, Spritz RA. Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus. Mamm Genome. 2001 Jun; 12(6):466-8. PMID: 11353395.
      View in: PubMed
    98. Toyofuku K, Wada I, Spritz RA, Hearing VJ. The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem J. 2001 Apr 15; 355(Pt 2):259-69. PMID: 11284711; PMCID: PMC1221735.
    99. Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug; 25(4):427-30. PMID: 10932188.
      View in: PubMed
    100. Oh J, Liu ZX, Feng GH, Raposo G, Spritz RA. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Hum Mol Genet. 2000 Feb 12; 9(3):375-85. PMID: 10655547.
      View in: PubMed
    101. Spritz RA. Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium. Pigment Cell Res. 2000 Feb; 13(1):15-20. PMID: 10761991.
      View in: PubMed
    102. Spritz RA. Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast. Trends Genet. 1999 Sep; 15(9):337-40. PMID: 10461199.
      View in: PubMed
    103. Spritz RA. Multi-organellar disorders of pigmentation: tied up in traffic. Clin Genet. 1999 May; 55(5):309-17. PMID: 10422800.
      View in: PubMed
    104. Spritz RA, Oh J. HPS gene mutations in Hermansky-Pudlak syndrome. Am J Hum Genet. 1999 Feb; 64(2):658. PMID: 9973306; PMCID: PMC1377778.
    105. Spritz RA, Oh J. Three new mutations in a gene causing Hermansky-Pudlak syndrome. Mol Genet Metab. 1998 Nov; 65(3):254. PMID: 9851892.
      View in: PubMed
    106. Suzuki K, Bustos T, Spritz RA. Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am J Hum Genet. 1998 Oct; 63(4):1102-7. PMID: 9758630; PMCID: PMC1377504.
    107. Ho L, Williams MS, Spritz RA. A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. Am J Hum Genet. 1998 May; 62(5):1102-6. PMID: 9545409; PMCID: PMC1377096.
    108. Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse. J Clin Immunol. 1998 Mar; 18(2):97-105. PMID: 9533653.
      View in: PubMed
    109. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet. 1998 Mar; 62(3):593-8. PMID: 9497254; PMCID: PMC1376951.
    110. Furumura M, Solano F, Matsunaga N, Sakai C, Spritz RA, Hearing VJ. Metal ligand-binding specificities of the tyrosinase-related proteins. Biochem Biophys Res Commun. 1998 Jan 26; 242(3):579-85. PMID: 9464259.
      View in: PubMed
    111. Spritz RA, Beighton P. Piebaldism with deafness: molecular evidence for an expanded syndrome. Am J Med Genet. 1998 Jan 06; 75(1):101-3. PMID: 9450866.
      View in: PubMed
    112. Spritz RA. Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes. Platelets. 1998; 9(1):21-9. PMID: 16793741.
      View in: PubMed
    113. Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet. 1997 Nov 12; 72(4):462-7. PMID: 9375732.
      View in: PubMed
    114. Spritz RA, Ho L, Furumura M, Hearing VJ. Mutational analysis of copper binding by human tyrosinase. J Invest Dermatol. 1997 Aug; 109(2):207-12. PMID: 9242509.
      View in: PubMed
    115. Spritz RA, Bailin T, Nicholls RD, Lee ST, Park SK, Mascari MJ, Butler MG. Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Med Genet. 1997 Jul 11; 71(1):57-62. PMID: 9215770.
      View in: PubMed
    116. Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz RA. Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet. 1997 Jul; 6(7):1087-9. PMID: 9215679.
      View in: PubMed
    117. Easty DJ, Mitchell PJ, Patel K, Flørenes VA, Spritz RA, Bennett DC. Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanoma. Int J Cancer. 1997 Jun 11; 71(6):1061-5. PMID: 9185712.
      View in: PubMed
    118. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol. 1997 Jun; 108(6):923-7. PMID: 9182823.
      View in: PubMed
    119. Feng GH, Bailin T, Oh J, Spritz RA. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet. 1997 May; 6(5):793-7. PMID: 9158155.
      View in: PubMed
    120. Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet. 1997 May; 6(5):659-64. PMID: 9158138.
      View in: PubMed
    121. Park SK, Lee KH, Park KC, Lee JS, Spritz RA, Lee ST. Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Mol Cells. 1997 Apr 30; 7(2):187-91. PMID: 9163730.
      View in: PubMed
    122. Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997 Mar; 16(1):15-23. PMID: 9125761.
      View in: PubMed
    123. Sviderskaya EV, Bennett DC, Ho L, Bailin T, Lee ST, Spritz RA. Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J Invest Dermatol. 1997 Jan; 108(1):30-4. PMID: 8980282.
      View in: PubMed
    124. Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG. Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). Hum Mutat. 1997; 10(2):175-7. PMID: 9259203.
      View in: PubMed
    125. Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Hum Mutat. 1997; 10(2):171-4. PMID: 9259202.
      View in: PubMed
    126. Oh J, Bailin T, Fukai K, Feng GH, Ho L, Mao JI, Frenk E, Tamura N, Spritz RA. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996 Nov; 14(3):300-6. PMID: 8896559.
      View in: PubMed
    127. Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet. 1996 Nov; 14(3):307-11. PMID: 8896560.
      View in: PubMed
    128. Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Bürger J, Spritz RA. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet. 1996 Sep; 59(3):620-4. PMID: 8751863; PMCID: PMC1914913.
    129. Schnur RE, Sellinger BT, Holmes SA, Wick PA, Tatsumura YO, Spritz RA. Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. J Invest Dermatol. 1996 May; 106(5):1137-40. PMID: 8618053.
      View in: PubMed
    130. Bailin T, Lee ST, Spritz RA. Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. J Invest Dermatol. 1996 Jan; 106(1):24-7. PMID: 8592076.
      View in: PubMed
    131. Spritz RA. A study in scarlet. Nat Genet. 1995 Nov; 11(3):225-6. PMID: 7581437.
      View in: PubMed
    132. Fukai K, Oh J, Frenk E, Almodóvar C, Spritz RA. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet. 1995 Sep; 4(9):1665-9. PMID: 8541858.
      View in: PubMed
    133. Spritz RA, Fukai K, Holmes SA, Luande J. Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Am J Hum Genet. 1995 Jun; 56(6):1320-3. PMID: 7762554; PMCID: PMC1801108.
    134. Falik-Borenstein TC, Holmes SA, Borochowitz Z, Levin A, Rosenmann A, Spritz RA. DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A). Prenat Diagn. 1995 Apr; 15(4):345-9. PMID: 7617575.
      View in: PubMed
    135. Lee ST, Nicholls RD, Jong MT, Fukai K, Spritz RA. Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics. 1995 Mar 20; 26(2):354-63. PMID: 7601462.
      View in: PubMed
    136. Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet. 1995 Jan; 9(1):92-5. PMID: 7704033.
      View in: PubMed
    137. Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA. Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet. 1994 Nov; 3(11):2047-51. PMID: 7874125.
      View in: PubMed
    138. Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994 Nov; 103(5 Suppl):137S-140S. PMID: 7525736.
      View in: PubMed
    139. Spritz RA, Ho L, Strunk KM. Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W). J Invest Dermatol. 1994 Aug; 103(2):148-50. PMID: 7518854.
      View in: PubMed
    140. Spritz RA, Strunk KM, Lee ST, Lu-Kuo JM, Ward DC, Le Paslier D, Altherr MR, Dorman TE, Moir DT. A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12. Genomics. 1994 Jul 15; 22(2):431-6. PMID: 7528718.
      View in: PubMed
    141. Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet. 1994 Apr; 54(4):586-94. PMID: 8128955; PMCID: PMC1918101.
    142. Ezoe K, Lee ST, Strunk KM, Spritz RA. PTK1, a novel protein kinase required for proliferation of human melanocytes. Oncogene. 1994 Mar; 9(3):935-8. PMID: 8108137.
      View in: PubMed
    143. Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994 Feb 24; 330(8):529-34. PMID: 8302318.
      View in: PubMed
    144. Spritz RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994; 3 Spec No:1469-75. PMID: 7849740.
      View in: PubMed
    145. Spritz RA, Hearing VJ. Genetic disorders of pigmentation. Adv Hum Genet. 1994; 22:1-45. PMID: 7539206.
      View in: PubMed
    146. Polvi A, Armstrong E, Lai C, Lemke G, Huebner K, Spritz RA, Guida LC, Nicholls RD, Alitalo K. The human TYRO3 gene and pseudogene are located in chromosome 15q14-q25. Gene. 1993 Dec 08; 134(2):289-93. PMID: 8262388.
      View in: PubMed
    147. Lee ST, Strunk KM, Spritz RA. A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes. Oncogene. 1993 Dec; 8(12):3403-10. PMID: 8247543.
      View in: PubMed
    148. Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA. Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet. 1993 Dec; 53(6):1173-9. PMID: 7902671; PMCID: PMC1682481.
    149. Spritz RA, Holmes SA, Berg SZ, Nordlund JJ, Fukai K. A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism. Hum Mol Genet. 1993 Sep; 2(9):1499-500. PMID: 7694728.
      View in: PubMed
    150. Spritz RA, Holmes SA. Polymerase chain reaction detection of a novel human KIT (mast/stem cell growth factor receptor) gene polymorphism by single-strand conformation polymorphism analysis or by SmaI or BstNI cleavage. Hum Genet. 1993 Sep; 92(2):208-9. PMID: 7690341.
      View in: PubMed
    151. Spritz RA. Molecular genetics of oculocutaneous albinism. Semin Dermatol. 1993 Sep; 12(3):167-72. PMID: 8217557.
      View in: PubMed
    152. Spritz RA, Holmes SA, Itin P, Küster W. Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. J Invest Dermatol. 1993 Jul; 101(1):22-5. PMID: 7687267.
      View in: PubMed
    153. Spritz RA, Freedman MH. Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia. Blood. 1993 Jun 01; 81(11):3165. PMID: 7684626.
      View in: PubMed
    154. Lu-Kuo J, Ward DC, Spritz RA. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene). Genomics. 1993 Apr; 16(1):173-9. PMID: 8486353.
      View in: PubMed
    155. Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature. 1993 Jan 07; 361(6407):72-6. PMID: 8421497.
      View in: PubMed
    156. Tripathi RK, Hearing VJ, Urabe K, Aroca P, Spritz RA. Mutational mapping of the catalytic activities of human tyrosinase. J Biol Chem. 1992 Nov 25; 267(33):23707-12. PMID: 1429711.
      View in: PubMed
    157. Giebel LB, Strunk KM, Holmes SA, Spritz RA. Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene. Oncogene. 1992 Nov; 7(11):2207-17. PMID: 1279499.
      View in: PubMed
    158. Spritz RA, Droetto S, Fukushima Y. Deletion of the KIT and PDGFRA genes in a patient with piebaldism. Am J Med Genet. 1992 Nov 01; 44(4):492-5. PMID: 1279971.
      View in: PubMed
    159. Spritz RA. The molecular basis of human piebaldism. Pigment Cell Res. 1992 Nov; 5(5 Pt 2):340-3. PMID: 1292017.
      View in: PubMed
    160. Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P. Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. Am J Hum Genet. 1992 Nov; 51(5):1058-65. PMID: 1384325; PMCID: PMC1682829.
    161. Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet. 1992 Jul 15; 43(5):865-71. PMID: 1642278.
      View in: PubMed
    162. Spritz RA. Lack of apparent hematologic abnormalities in human patients with c-kit (stem cell factor receptor) gene mutations. Blood. 1992 May 01; 79(9):2497-9. PMID: 1373975.
      View in: PubMed
    163. Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet. 1992 Feb; 50(2):261-9. PMID: 1370874; PMCID: PMC1682440.
    164. Giebel LB, Spritz RA. The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. Pigment Cell Res. 1992; Suppl 2:101-6. PMID: 1409411.
      View in: PubMed
    165. Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci U S A. 1991 Oct 01; 88(19):8696-9. PMID: 1717985; PMCID: PMC52576.
    166. Giebel LB, Musarella MA, Spritz RA. A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. J Med Genet. 1991 Jul; 28(7):464-7. PMID: 1832718; PMCID: PMC1016956.
    167. Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet. 1991 Jun; 48(6):1159-67. PMID: 1903591; PMCID: PMC1683101.
    168. Tripathi RK, Giebel LB, Strunk KM, Spritz RA. A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expr. 1991 May; 1(2):103-10. PMID: 1820207.
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    169. Giebel LB, Strunk KM, Spritz RA. Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics. 1991 Mar; 9(3):435-45. PMID: 1903356.
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    170. Giebel LB, Tripathi RK, King RA, Spritz RA. A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest. 1991 Mar; 87(3):1119-22. PMID: 1900309; PMCID: PMC329910.
    171. King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz RA. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest. 1991 Mar; 87(3):1046-53. PMID: 1900307; PMCID: PMC329899.
    172. Spritz RA, Strunk KM, Hsieh CL, Sekhon GS, Francke U. Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. Am J Hum Genet. 1991 Feb; 48(2):318-24. PMID: 1899321; PMCID: PMC1683030.
    173. Spritz RA, Strunk K, Surowy CS, Mohrenweiser HW. Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3. Genomics. 1990 Oct; 8(2):371-9. PMID: 2147422.
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    174. Giebel LB, Spritz RA. Site-directed mutagenesis using a double-stranded DNA fragment as a PCR primer. Nucleic Acids Res. 1990 Aug 25; 18(16):4947. PMID: 2118627; PMCID: PMC332011.
    175. Spritz RA, Strunk KM. RFLP for BgIII at the human tyrosinase (TYR) locus. Nucleic Acids Res. 1990 Jun 25; 18(12):3672. PMID: 1972982; PMCID: PMC331057.
    176. Surowy CS, Hoganson G, Gosink J, Strunk K, Spritz RA. The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved. Gene. 1990 Jun 15; 90(2):299-302. PMID: 2119325.
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    177. Spritz RA, Strunk KM, Giebel LB, King RA. Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. N Engl J Med. 1990 Jun 14; 322(24):1724-8. PMID: 2342539.
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    178. Giebel LB, Spritz RA. RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res. 1990 May 25; 18(10):3103. PMID: 1971925; PMCID: PMC330887.
    179. Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A. 1990 May; 87(9):3255-8. PMID: 1970634; PMCID: PMC53878.
    180. Surowy CS, van Santen VL, Scheib-Wixted SM, Spritz RA. Direct, sequence-specific binding of the human U1-70K ribonucleoprotein antigen protein to loop I of U1 small nuclear RNA. Mol Cell Biol. 1989 Oct; 9(10):4179-86. PMID: 2531275; PMCID: PMC362496.
    181. Hamm J, van Santen VL, Spritz RA, Mattaj IW. Loop I of U1 small nuclear RNA is the only essential RNA sequence for binding of specific U1 small nuclear ribonucleoprotein particle proteins. Mol Cell Biol. 1988 Nov; 8(11):4787-91. PMID: 2974920; PMCID: PMC365571.
    182. Spritz R, Strunk K, Oetting W, King R. RFLP for TaqI at the human tyrosinase locus. Nucleic Acids Res. 1988 Oct 25; 16(20):9890. PMID: 2903492; PMCID: PMC338818.
    183. van Santen VL, Swain W, Spritz RA. Nucleotide sequences of two soybean U1 snRNA genes. Nucleic Acids Res. 1988 May 11; 16(9):4176. PMID: 3375086; PMCID: PMC336601.
    184. Spritz RA, Giebel LB. The structure and evolution of the spider monkey delta-globin gene. Mol Biol Evol. 1988 Jan; 5(1):21-9. PMID: 2833675.
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    185. Spritz RA, Strunk K, Surowy CS, Hoch SO, Barton DE, Francke U. The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res. 1987 Dec 23; 15(24):10373-91. PMID: 2447561; PMCID: PMC339950.
    186. van Santen VL, Spritz RA. Nucleotide sequence of a bean (Phaseolus vulgaris) U1 small nuclear RNA gene: implications for plant pre-mRNA splicing. Proc Natl Acad Sci U S A. 1987 Dec; 84(24):9094-8. PMID: 3480532; PMCID: PMC299698.
    187. Lang KM, Spritz RA. In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences? Mol Cell Biol. 1987 Oct; 7(10):3428-37. PMID: 3500397; PMCID: PMC367993.
    188. van Santen VL, Spritz RA. Splicing of plant pre-mRNAs in animal systems and vice versa. Gene. 1987; 56(2-3):253-65. PMID: 3678838.
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    189. van Santen VL, Spritz RA. Alternative splicing of SV40 early pre-mRNA in vitro. Nucleic Acids Res. 1986 Dec 22; 14(24):9911-26. PMID: 3027668; PMCID: PMC341343.
    190. Spritz RA, Mager D, Pauli RM, Laxova R. Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome. Am J Hum Genet. 1986 Aug; 39(2):265-73. PMID: 3529947; PMCID: PMC1683936.
    191. Giebel LB, van Santen VL, Slightom JL, Spritz RA. Nucleotide sequence, evolution, and expression of the fetal globin gene of the spider monkey Ateles geoffroyi. Proc Natl Acad Sci U S A. 1985 Oct; 82(20):6985-9. PMID: 2413451; PMCID: PMC391294.
    192. Lang KM, van Santen VL, Spritz RA. The two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro. EMBO J. 1985 Aug; 4(8):1991-6. PMID: 3851741; PMCID: PMC554452.
    193. van Santen VL, Spritz RA. mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence. Proc Natl Acad Sci U S A. 1985 May; 82(9):2885-9. PMID: 3857622; PMCID: PMC397671.
    194. Lang KM, Spritz RA. Cloning specific complete polyadenylylated 3'-terminal cDNA segments. Gene. 1985; 33(2):191-6. PMID: 2581851.
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    195. Spritz RA. The familial histiocytoses. Pediatr Pathol. 1985; 3(1):43-57. PMID: 3898047.
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    196. Spritz RA, Van Santen VL. Deletion analysis of the human gamma-globin IVS2: sequence requirements for RNA splicing. Ann N Y Acad Sci. 1985; 445:10-9. PMID: 2990299.
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    197. Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M, et al. Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. J Clin Invest. 1984 Jun; 73(6):1740-9. PMID: 6725558; PMCID: PMC437086.
    198. Lang KM, Spritz RA. RNA splice site selection: evidence for a 5' leads to 3' scanning model. Science. 1983 Jun 24; 220(4604):1351-5. PMID: 6304877.
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    199. Spritz RA, Forget BG. The thalassemias: molecular mechanisms of human genetic disease. Am J Hum Genet. 1983 May; 35(3):333-61. PMID: 6407302; PMCID: PMC1685658.
    200. Spritz RA, Lang KM. Recognition of potential splice sites on the human G gamma-globin mRNA precursor. Prog Clin Biol Res. 1983; 134:77-90. PMID: 6665004.
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    201. Spritz RA, Orkin SH. Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene. Nucleic Acids Res. 1982 Dec 20; 10(24):8025-9. PMID: 7162987; PMCID: PMC327067.
    202. Pauli RM, Kirkpatrick SJ, Meisner LF, Mijanovich JR, Spritz RA. Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation. Clin Genet. 1982 Dec; 22(6):340-7. PMID: 7160105.
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    203. Forget BG, Benz EJ, Spritz RA, Weissman SM. Globin mRNA metabolism and gene structure in beta +-thalassemia. Birth Defects Orig Artic Ser. 1982; 18(7):51-9. PMID: 7159744.
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    204. Pergolizzi R, Spritz RA, Spence S, Goossens M, Kan YW, Bank A. Two cloned beta thalassemia genes are associated with amber mutations at codon 39. Nucleic Acids Res. 1981 Dec 21; 9(24):7065-72. PMID: 6278453; PMCID: PMC327662.
    205. Spritz RA. Duplication/deletion polymorphism 5' - to the human beta globin gene. Nucleic Acids Res. 1981 Oct 10; 9(19):5037-47. PMID: 7312624; PMCID: PMC327497.
    206. Spritz RA, Jagadeeswaran P, Choudary PV, Biro PA, Elder JT, deRiel JK, Manley JL, Gefter ML, Forget BG, Weissman SM. Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A. 1981 Apr; 78(4):2455-9. PMID: 6264477; PMCID: PMC319365.
    207. Elder JT, Spritz RA, Weissman SM. Simian virus 40 as a eukaryotic cloning vehicle. Annu Rev Genet. 1981; 15:295-340. PMID: 6279019.
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    208. Efstratiadis A, Posakony JW, Maniatis T, Lawn RM, O'Connell C, Spritz RA, DeRiel JK, Forget BG, Weissman SM, Slightom JL, Blechl AE, Smithies O, Baralle FE, Shoulders CC, Proudfoot NJ. The structure and evolution of the human beta-globin gene family. Cell. 1980 Oct; 21(3):653-68. PMID: 6985477.
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    209. Spritz RA, DeRiel JK, Forget BG, Weissman SM. Complete nucleotide sequence of the human delta-globin gene. Cell. 1980 Oct; 21(3):639-46. PMID: 7438204.
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    210. Spritz RA, Coates PM, Lief FS. I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector. Biochim Biophys Acta. 1979 Jan 04; 582(1):164-71. PMID: 760815.
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    211. Spritz RA, Emanuel BS, Chern CJ, Mellman WJ. Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase. Cytogenet Cell Genet. 1979; 23(3):149-56. PMID: 436447.
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    212. Spritz RA, Soiffer SJ, Siegel NJ, Mahoney MJ. False-negative A.F.P. screen for congenital nephrosis Finnish type. Lancet. 1978 Dec 09; 2(8102):1251. PMID: 82751.
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    213. Spritz RA. Familial radioulnar synostosis. J Med Genet. 1978 Apr; 15(2):160-2. PMID: 641954; PMCID: PMC1013669.
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