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Richard Spritz

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Tracey M Ferrara; Katherine Gowan; Ying Jin; Pamela R Fain; Richard A Spritz
Risk of Generalized Vitiligo Is Associated with the Common 55R-94A-247H Variant Haplotype of GZMB (Encoding Granzyme B).
Richard A Spritz
Modern vitiligo genetics sheds new light on an ancient disease.
Scott W Biggins; Megan Brocato; James R Burton; Michael Chang; Linling Cheng; Jennifer Dodge; Gregory Everson; Lisa Forman; Jane Gralla; Igal Kam; Goran Klintmalm; Matt McQueen; Richard A Spritz; James Trotter; Kiran M Bambha; Hugo R Rosen
Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation.

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2013: Tracey M Ferrara; Katherine Gowan; Ying Jin; Pamela R Fain; Richard A Spritz
Risk of Generalized Vitiligo Is Associated with the Common 55R-94A-247H Variant Haplotype of GZMB (Encoding Granzyme B).
The Journal of investigative dermatology 2013;133(6):1677-9.
2013: Richard A Spritz
Modern vitiligo genetics sheds new light on an ancient disease.
The Journal of dermatology 2013;40(5):310-8.
2013: Scott W Biggins; Megan Brocato; James R Burton; Michael Chang; Linling Cheng; Jennifer Dodge; Gregory Everson; Lisa Forman; Jane Gralla; Igal Kam; Goran Klintmalm; Matt McQueen; Richard A Spritz; James Trotter; Kiran M Bambha; Hugo R Rosen
Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation.
Journal of hepatology 2013;58(5):969-76.
2013: Stanca A Birlea; Mitesh Dwivedi; Pamela R Fain; Katherine Gowan; Paulene J Holland; Ying Jin; Naresh C. Laddha; Sabrina S Pal; Sheri L Riccardi; Mohmmad Shoab Mansuri; Fridoon J Ahmad; Shakil Ahmad; RASHEEDUNNISA BEGUM; Songtao Ben; Raza M Uddin; Richard A Spritz
Association of Generalized Vitiligo with MHC Class II Loci in Patients from the Indian Subcontinent.
The Journal of investigative dermatology 2013;133(5):1369-72.
2013: Cecilia B Levandowski; Christina M Mailloux; Kimberly K McFann; Songtao Ben; Charles A Dinarello; Pamela R Fain; Tracey M Ferrara; Katherine Gowan; Paulene J Holland; Ying Jin; Richard A Spritz
NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.
Proceedings of the National Academy of Sciences of the United States of America 2013;110(8):2952-6.
2012: Yuchun Luo; Martin D McCarter; David A Norris; Steven E Robinson; William A Robinson; Dennis R Roop; Richard A Spritz; Moe Takeda; Natalie G Ahn; Katiuscia Dallaglio; Lixia Z Ellis; Rene Gonzalez; Karl D Lewis; Weimin Liu; Mayumi Fujita
Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance.
The Journal of investigative dermatology 2012;132(10):2440-50.
2012: Ying Jin; Melinda Rastrou; Henry A Erlich; Pamela R Fain; Tracey Ferrara; Katherine Gowan; Cherie Holcomb; Richard A Spritz
Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.
The Journal of investigative dermatology 2012;132(6):1730-3.
2011: R Christopher Weatherley-White; Thomas D Arnold; Songtao Ben; Ying Jin; Sheri Riccardi; Richard A Spritz
Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort.
American journal of medical genetics. Part A 2011;155A(10):2422-25.
2011: Richard A Spritz
Recent progress in the genetics of generalized vitiligo.
Journal of genetics and genomics = Yi chuan xue bao 2011;38(7):271-8.
2011: Ying Jin; stanca ariana birlea; Pamela R Fain; Katherine Gowan; Sheri L Riccardi; Paulene J Holland; Dorothy C Bennett; Deborah M Herbstman; Margaret R Wallace; Wayne T McCormack; E Helen Kemp; David J Gawkrodger; Anthony P Weetman; Mauro Picardo; Giovanni Leone; Alain Taïeb; Thomas Jouary; Khaled Ezzedine; Nanny Van Geel; Jo Lambert; Andreas Overbeck; Richard A Spritz
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.
The Journal of investigative dermatology 2011;131(6):1308-12.
2011: stanca ariana birlea; Ying Jin; Dorothy C Bennett; Deborah M Herbstman; Margaret R Wallace; Wayne T McCormack; E Helen Kemp; David J Gawkrodger; Anthony P Weetman; Mauro Picardo; Giovanni Leone; Alain Taïeb; Thomas Jouary; Khaled Ezzedine; Nanny Van Geel; Jo Lambert; Andreas Overbeck; Pamela R Fain; Richard A Spritz
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.
The Journal of investigative dermatology 2011;131(2):371-81.
2011: Richard A Spritz
The genetics of vitiligo.
The Journal of investigative dermatology 2011;131(E1):E18-20.
2010: Richard A Spritz
Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease.
Thyroid : official journal of the American Thyroid Association 2010;20(7):745-54.
2010: Ying Jin; stanca ariana birlea; Pamela R Fain; Christina M Mailloux; Sheri L Riccardi; Katherine Gowan; Paulene J Holland; Dorothy C Bennett; Margaret R Wallace; Wayne T McCormack; E Helen Kemp; David J Gawkrodger; Anthony P Weetman; Mauro Picardo; Giovanni Leone; Alain Taïeb; Thomas Jouary; Khaled Ezzedine; Nanny Van Geel; Jo Lambert; Andreas Overbeck; Richard A Spritz
Common variants in FOXP1 are associated with generalized vitiligo.
Nature genetics 2010;42(7):576-8.
2010: Ying Jin; stanca ariana birlea; Pamela R Fain; Katherine Gowan; Sheri L Riccardi; Paulene J Holland; Christina M Mailloux; Alexandra J D Sufit; Saunie M Hutton; Anita Amadi-Myers; Dorothy C Bennett; Margaret R Wallace; Wayne T McCormack; E Helen Kemp; David J Gawkrodger; Anthony P Weetman; Mauro Picardo; Giovanni Leone; Alain Taïeb; Thomas Jouary; Khaled Ezzedine; Nanny Van Geel; Jo Lambert; Andreas Overbeck; Richard A Spritz
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
The New England journal of medicine 2010;362(18):1686-97.
2010: stanca ariana birlea; Katherine Gowan; Pamela R Fain; Richard A Spritz
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8.
The Journal of investigative dermatology 2010;130(3):798-803.
2010: Ying Jin; Sheri L Riccardi; Katherine Gowan; Pamela R Fain; Richard A Spritz
Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1).
The Journal of investigative dermatology 2010;130(3):774-83.
2010: Richard A Spritz
The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma.
Genome medicine 2010;2(10):78.
2009: Mehmet A Sözen; Jacqueline T Hecht; Richard A Spritz
Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate.
Genetics and molecular biology 2009;32(3):466-9.
2009: Mehmet A Sözen; Marie M Tolarova; Richard A Spritz
The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela.
Journal of genetics and genomics = Yi chuan xue bao 2009;36(5):283-8.
2009: stanca ariana birlea; Greggory S LaBerge; Lucia M Procopciuc; Pamela R Fain; Richard A Spritz
CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data.
Pigment cell & melanoma research 2009;22(2):230-4.
2009: Sonia M Leach; Hannah Tipney; Weiguo Feng; William A Baumgartner; Priyanka Kasliwal; Ronald P Schuyler; Trevor Williams; Richard A Spritz; Lawrence Hunter
Biomedical discovery acceleration, with applications to craniofacial development.
PLoS computational biology 2009;5(3):e1000215.
2009: Weiguo Feng; Sonia M Leach; Hannah Tipney; Tzulip Phang; Mark Geraci; Richard A Spritz; Lawrence Hunter; Trevor Williams
Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences.
PloS one 2009;4(12):e8066.
2008: Saunie M Hutton; Richard A Spritz
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
The Journal of investigative dermatology 2008;128(10):2442-50.
2008: Greggory S LaBerge; Dorothy C Bennett; Pamela R Fain; Richard A Spritz
PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not.
The Journal of investigative dermatology 2008;128(7):1757-62.
2008: Greggory S LaBerge; stanca ariana birlea; Pamela R Fain; Richard A Spritz
The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population.
Pigment cell & melanoma research 2008;21(2):206-8.
2008: stanca ariana birlea; Pamela R Fain; Richard A Spritz
A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases.
Archives of dermatology 2008;144(3):310-6.
2008: Saunie M Hutton; Richard A Spritz
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients.
Investigative ophthalmology & visual science 2008;49(3):868-72.
2008: Richard A Spritz
The genetics of generalized vitiligo.
Current directions in autoimmunity 2008;10():244-57.
2007: Ying Jin; stanca ariana birlea; Pamela R Fain; Richard A Spritz
Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population.
The Journal of investigative dermatology 2007;127(11):2558-62.
2007: Ying Jin; Dorothy C Bennett; Anita Amadi-Myers; Paulene Holland; Sheri L Riccardi; Katherine Gowan; Pamela R Fain; Richard A Spritz
Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2007;20(5):402-4.
2007: Richard A Spritz
The genetics of generalized vitiligo and associated autoimmune diseases.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2007;20(4):271-8.
2007: Richard A Spritz; Thomas D Arnold; Samuel Buonocore; David Carter; Tasha E Fingerlin; Wilson W Odero; John O Wambani; Robert K Tenge; R Christopher Weatherley-White
Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2007;44(4):374-7.
2007: Ying Jin; Christina M Mailloux; Katherine Gowan; Sheri L Riccardi; Greggory S LaBerge; Dorothy C Bennett; Pamela R Fain; Richard A Spritz
NALP1 in vitiligo-associated multiple autoimmune disease.
The New England journal of medicine 2007;356(12):1216-25.
2007: Sreenivasulu Chintala; Jian Tan; Rashi Gautam; Michael E Rusiniak; Xiaoli Guo; Wei Li; William A Gahl; Marjan Huizing; Richard A Spritz; Saunie Hutton; Edward K Novak; Richard T Swank
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.
Blood 2007;109(4):1533-40.
2006: Richard A Spritz
"Out, damned spot!".
The Journal of investigative dermatology 2006;126(5):949-51.
2006: Pamela R Fain; Sunanda R Babu; Dorothy C Bennett; Richard A Spritz
HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2006;19(1):51-7.
2006: Pedro J Santiago-Borrero; Yolanda Rodríguez-Pérez; Jessicca Y Renta; Natalio J Izquierdo; Laura Del Fierro; Daniel Muñoz; Norma López Molina; Sonia Ramírez; Glorivee Pagán-Mercado; Idith Ortíz; Enid Rivera-Caragol; Richard A Spritz; Carmen Cadilla
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.
The Journal of investigative dermatology 2006;126(1):85-90.
2006: Richard A Spritz
The genetics of generalized vitiligo and associated autoimmune diseases.
Journal of dermatological science 2006;41(1):3-10.
2005: Shiro Ito; Tamio Suzuki; Katsuhiko Inagaki; Noriyuki Suzuki; Kenji Takamori; Tomoko Yamada; Mitsuru Nakazawa; Michihiro Hatano; Hirotsugu Takiwaki; Yumi Kakuta; Richard A Spritz; Yasushi Tomita
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.
The Journal of investigative dermatology 2005;125(4):715-20.
2005: Sreenivasulu Chintala; Wei Li; M Lynn Lamoreux; Shosuke Ito; Kazumasa Wakamatsu; Elena V Sviderskaya; Dorothy C Bennett; Young-Mee Park; William A Gahl; Marjan Huizing; Richard A Spritz; Songtao Ben; Edward K Novak; Jian Tan; Richard T Swank
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(31):10964-9.
2005: Asem Alkhateeb; Pamela R Fain; Richard A Spritz
Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo.
The Journal of investigative dermatology 2005;125(2):388-91.
2005: Greggory S LaBerge; Christina M Mailloux; Katherine Gowan; Paulene Holland; Dorothy C Bennett; Pamela R Fain; Richard A Spritz
Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2005;18(4):300-5.
2004: Keiko Akahoshi; Richard A Spritz; Kazuyoshi Fukai; Norimasa Mitsui; Kazushige Matsushima; Hirofumi Ohashi
Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia.
American journal of medical genetics. Part A 2004;126A(3):290-2.
2004: Naoki Oiso; Suzette R Riddle; Tadao Serikawa; Takashi Kuramoto; Richard A Spritz
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.
Mammalian genome : official journal of the International Mammalian Genome Society 2004;15(4):307-14.
2004: Richard A Spritz; Peter H Itin; David H Gutmann
Piebaldism and neurofibromatosis type 1: horses of very different colors.
The Journal of investigative dermatology 2004;122(2):xxxiv-xxxv.
2004: Richard A Spritz; Katherine Gowan; Dorothy C Bennett; Pamela R Fain
Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis.
American journal of human genetics 2004;74(1):188-91.
2003: Manuel Sánchez-Martín; Jesús Pérez-Losada; Arancha Rodríguez-García; Belén González-Sánchez; Bruce Korf; W Kuster; Celia Moss; Richard A Spritz; Isidro Sánchez-García
Deletion of the SLUG (SNAI2) gene results in human piebaldism.
American journal of medical genetics. Part A 2003;122A(2):125-32.
2003: Wei Li; Qing Zhang; Naoki Oiso; Edward K Novak; Rashi Gautam; Edward P O'Brien; Caroline L Tinsley; Derek J Blake; Richard A Spritz; Neal G Copeland; Nancy A Jenkins; Dominick Amato; Bruce A Roe; Marta Starcevic; Esteban C Dell'Angelica; Rosemary W Elliott; Vishnu Mishra; Stephen Kingsmore; Richard Paylor; Richard T Swank
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
Nature genetics 2003;35(1):84-9.
2003: Richard A Spritz; Pei-Wen Chiang; Naoki Oiso; Asem Alkhateeb
Human and mouse disorders of pigmentation.
Current opinion in genetics & development 2003;13(3):284-9.
2003: Asem Alkhateeb; Pamela R Fain; Anthony Thody; Dorothy C Bennett; Richard A Spritz
Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2003;16(3):208-14.
2003: Pamela R Fain; Katherine Gowan; Greggory S LaBerge; Asem Alkhateeb; Gary L Stetler; Janet Talbert; Dorothy C Bennett; Richard A Spritz
A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci.
American journal of human genetics 2003;72(6):1560-4.
2003: Pei-Wen Chiang; Naoki Oiso; Rashi Gautam; Tamio Suzuki; Richard T Swank; Richard A Spritz
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.
The Journal of biological chemistry 2003;278(22):20332-7.
2003: Tamio Suzuki; Naoki Oiso; Rashi Gautam; Edward K Novak; Jean-Jacques Panthier; P G Suprabha; Thomas Vida; Richard T Swank; Richard A Spritz
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(3):1146-50.
2003: Qing Zhang; Baohui Zhao; Wei Li; Naoki Oiso; Edward K Novak; Michael E Rusiniak; Rashi Gautam; Sreenivasulu Chintala; Edward P O'Brien; Yuke Zhang; Bruce A Roe; Rosemary W Elliott; Eva M Eicher; Ping Liang; Christian Kratz; Eric Legius; Richard A Spritz; T Norene O'Sullivan; Neal G Copeland; Nancy A Jenkins; Richard T Swank
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.
Nature genetics 2003;33(2):145-53.
2002: Asem Alkhateeb; Gary L Stetler; William Old; Janet Talbert; Cynthia Uhlhorn; Melanie Taylor; Angela Fox; Cynthia Miller; Diana G Dills; E Chester Ridgway; Dorothy C Bennett; Pamela R Fain; Richard A Spritz
Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2.
Human molecular genetics 2002;11(6):661-7.
2002: Tamio Suzuki; Wei Li; Qing Zhang; Amna Karim; Edward K Novak; Elena V Sviderskaya; Simon P Hill; Dorothy C Bennett; Alex V Levin; H Karel Nieuwenhuis; Chin-To Fong; Claudio Castellan; Bianca Miterski; Richard T Swank; Richard A Spritz
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Nature genetics 2002;30(3):321-4.
2002: Mohammad A Karim; Koji Suzuki; Kazuyoshi Fukai; Jangsuk Oh; Deborah L Nagle; Karen J Moore; Ernest Barbosa; Tzipora Falik-Borenstein; Alexandra H Filipovich; Yasushi Ishida; Sirpa Kivrikko; Christoph Klein; Friedmar Kreuz; Alex Levin; Hiroaki Miyajima; Jose Regueiro; Carolyn Russo; Eiichiro Uyama; Outi Vierimaa; Richard A Spritz
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.
American journal of medical genetics 2002;108(1):16-22.
2001: Keiko Akahoshi; K Fukai; A Kato; S Kimiya; T Kubota; Richard A Spritz
Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation.
American journal of medical genetics 2001;104(4):299-302.
2001: Richard A Spritz
The genetics and epigenetics of orofacial clefts.
Current opinion in pediatrics 2001;13(6):556-60.
2001: Tamio Suzuki; W Li; Q Zhang; Edward K Novak; Elena V Sviderskaya; A Wilson; Dorothy C Bennett; B A Roe; Richard T Swank; Richard A Spritz
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;78(1-2):30-7.
2001: M A Sözen; Koji Suzuki; M M Tolarova; T Bustos; J E Fernández Iglesias; Richard A Spritz
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela.
Nature genetics 2001;29(2):141-2.
2001: J Oh; T D LeCras; Richard A Spritz
Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus.
Mammalian genome : official journal of the International Mammalian Genome Society 2001;12(6):466-8.
2001: Kazutomo Toyofuku; Ikuo Wada; Richard A Spritz; Vincent J Hearing
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation.
The Biochemical journal 2001;355(Pt 2):259-69.
2000: Koji Suzuki; D Hu; T Bustos; J Zlotogora; A Richieri-Costa; J A Helms; Richard A Spritz
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia.
Nature genetics 2000;25(4):427-30.
2000: Jangsuk Oh; Z X Liu; GH Feng; G Raposo; Richard A Spritz
The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes.
Human molecular genetics 2000;9(3):375-85.
2000: Richard A Spritz
Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2000;13(1):15-20.
1999: Richard A Spritz
Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast.
Trends in genetics : TIG 1999;15(9):337-40.
1999: Richard A Spritz
Multi-organellar disorders of pigmentation: tied up in traffic.
Clinical genetics 1999;55(5):309-17.
1998: Koji Suzuki; T Bustos; Richard A Spritz
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.
American journal of human genetics 1998;63(4):1102-7.
1998: L Ho; Marc S Williams; Richard A Spritz
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.
American journal of human genetics 1998;62(5):1102-6.
1998: Richard A Spritz
Genetic defects in Chediak-Higashi syndrome and the beige mouse.
Journal of clinical immunology 1998;18(2):97-105.
1998: Jangsuk Oh; L Ho; Sirpa Ala-Mello; D Amato; L Armstrong; S Bellucci; G Carakushansky; J P Ellis; Chin-To Fong; J S Green; E Heon; E Legius; A V Levin; H Karel Nieuwenhuis; A Pinckers; N Tamura; M L Whiteford; H Yamasaki; Richard A Spritz
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
American journal of human genetics 1998;62(3):593-8.
1998: Minao Furumura; Francisco Solano; N Matsunaga; C Sakai; Richard A Spritz; Vincent J Hearing
Metal ligand-binding specificities of the tyrosinase-related proteins.
Biochemical and biophysical research communications 1998;242(3):579-85.
1997: Richard A Spritz; L Ho; Minao Furumura; Vincent J Hearing
Mutational analysis of copper binding by human tyrosinase.
The Journal of investigative dermatology 1997;109(2):207-12.
1997: Richard A Spritz; T Bailin; RD Nicholls; ST Lee; S K Park; M J Mascari; M G Butler
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.
American journal of medical genetics 1997;71(1):57-62.
1997: M A Karim; D L Nagle; H H Kandil; J Bürger; K J Moore; Richard A Spritz
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.
Human molecular genetics 1997;6(7):1087-9.
1997: T Bailin; Jangsuk Oh; GH Feng; K Fukai; Richard A Spritz
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene.
The Journal of investigative dermatology 1997;108(6):923-7.
1997: GH Feng; T Bailin; Jangsuk Oh; Richard A Spritz
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
Human molecular genetics 1997;6(5):793-7.
1997: Richard A Spritz
Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development.
Seminars in cutaneous medicine and surgery 1997;16(1):15-23.
1997: Richard A Spritz; ST Lee; K Fukai; karen brondum-nielsen; D Chitayat; M H Lipson; Maria A Musarella; A Rosenmann; Richard G Weleber
Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).
Human mutation 1997;10(2):175-7.
1997: Richard A Spritz; J Oh; K Fukai; S A Holmes; L Ho; D Chitayat; T D France; Maria A Musarella; S J Orlow; RE Schnur; Richard G Weleber; A V Levin
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
Human mutation 1997;10(2):171-4.
1997: Elena V Sviderskaya; Dorothy C Bennett; L Ho; T Bailin; ST Lee; Richard A Spritz
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.
The Journal of investigative dermatology 1997;108(1):30-4.
1996: DL Nagle; M A Karim; EA Woolf; LM Holmgren; P Bork; D J Misumi; S H McGrail; BJ Dussault; Charles M Perou; R E Boissy; Geoffrey Duyk; Richard A Spritz; KJ Moore
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.
Nature genetics 1996;14(3):307-11.
1996: Jangsuk Oh; T Bailin; K Fukai; G H Feng; L Ho; J I Mao; E Frenk; N Tamura; Richard A Spritz
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles.
Nature genetics 1996;14(3):300-6.
1996: K Fukai; Jangsuk Oh; M A Karim; KJ Moore; H H Kandil; H Ito; J Bürger; Richard A Spritz
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).
American journal of human genetics 1996;59(3):620-4.
1996: Rhonda E Schnur; B T Sellinger; S A Holmes; P A Wick; Y O Tatsumura; Richard A Spritz
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene.
The Journal of investigative dermatology 1996;106(5):1137-40.
1996: T Bailin; S T Lee; Richard A Spritz
Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus.
The Journal of investigative dermatology 1996;106(1):24-7.
1995: K Fukai; Jangsuk Oh; E Frenk; C Almodóvar; Richard A Spritz
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.
Human molecular genetics 1995;4(9):1665-9.
1995: Richard A Spritz; K Fukai; S A Holmes; J Luande
Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).
American journal of human genetics 1995;56(6):1320-3.
1995: S T Lee; Robert D Nicholls; M T Jong; K Fukai; Richard A Spritz
Organization and sequence of the human P gene and identification of a new family of transport proteins.
Genomics 1995;26(2):354-63.
1995: K Fukai; S A Holmes; N J Lucchese; V M Siu; Richard G Weleber; Rhonda E Schnur; Richard A Spritz
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism.
Nature genetics 1995;9(1):92-5.
1994: S T Lee; Robert D Nicholls; Rhonda E Schnur; L C Guida; J Lu-Kuo; Nancy B Spinner; E H Zackai; Richard A Spritz
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).
Human molecular genetics 1994;3(11):2047-51.
1994: Richard A Spritz
Molecular basis of human piebaldism.
The Journal of investigative dermatology 1994;103(5 Suppl):137S-140S.
1994: Richard A Spritz; L Ho; K M Strunk
Inhibition of proliferation of human melanocytes by a KIT antisense oligodeoxynucleotide: implications for human piebaldism and mouse dominant white spotting (W).
The Journal of investigative dermatology 1994;103(2):148-50.
1994: Richard A Spritz; K M Strunk; S T Lee; J M Lu-Kuo; David C Ward; D Le Paslier; M R Altherr; Todd Dorman; D T Moir
A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFRA-KIT-KDR) in chromosome segment 4q12.
Genomics 1994;22(2):431-6.
1994: Ruth Gershoni-Baruch; A Rosenmann; S Droetto; S Holmes; R K Tripathi; Richard A Spritz
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
American journal of human genetics 1994;54(4):586-94.
1994: K Ezoe; S T Lee; K M Strunk; Richard A Spritz
PTK1, a novel protein kinase required for proliferation of human melanocytes.
Oncogene 1994;9(3):935-8.
1994: S T Lee; Robert D Nicholls; S Bundey; R Laxova; Maria A Musarella; Richard A Spritz
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.
The New England journal of medicine 1994;330(8):529-34.
1994: Richard A Spritz
Molecular genetics of oculocutaneous albinism.
Human molecular genetics 1994;3 Spec No():1469-75.
1994: Richard A Spritz; Vincent J Hearing
Genetic disorders of pigmentation.
Advances in human genetics 1994;22():1-45.
1993: S T Lee; K M Strunk; Richard A Spritz
A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes.
Oncogene 1993;8(12):3403-10.
1993: R K Tripathi; S Bundey; Maria A Musarella; S Droetto; K M Strunk; S A Holmes; Richard A Spritz
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA).
American journal of human genetics 1993;53(6):1173-9.
1993: Richard A Spritz
Molecular genetics of oculocutaneous albinism.
Seminars in dermatology 1993;12(3):167-72.
1993: Richard A Spritz; S A Holmes; S Z Berg; J J Nordlund; K Fukai
A recurrent deletion in the KIT (mast/stem cell growth factor receptor) proto-oncogene is a frequent cause of human piebaldism.
Human molecular genetics 1993;2(9):1499-500.
1993: Richard A Spritz; S A Holmes; P Itin; W Küster
Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
The Journal of investigative dermatology 1993;101(1):22-5.
1993: J Lu-Kuo; David C Ward; Richard A Spritz
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;16(1):173-9.
1992: R K Tripathi; Vincent J Hearing; K Urabe; P Aroca; Richard A Spritz
Mutational mapping of the catalytic activities of human tyrosinase.
The Journal of biological chemistry 1992;267(33):23707-12.
1992: Richard A Spritz; S A Holmes; R Ramesar; J Greenberg; D Curtis; P Beighton
Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.
American journal of human genetics 1992;51(5):1058-65.
1992: Richard A Spritz
The molecular basis of human piebaldism.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 1992;5(5 Pt 2):340-3.
1992: Richard A Spritz; S Droetto; Y Fukushima
Deletion of the KIT and PDGFRA genes in a patient with piebaldism.
American journal of medical genetics 1992;44(4):492-5.
1992: L B Giebel; K M Strunk; S A Holmes; Richard A Spritz
Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene.
Oncogene 1992;7(11):2207-17.
1992: R K Tripathi; K M Strunk; L B Giebel; Richard G Weleber; Richard A Spritz
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions.
American journal of medical genetics 1992;43(5):865-71.
1992: Richard A Spritz; L B Giebel; S A Holmes
Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.
American journal of human genetics 1992;50(2):261-9.
1992: L B Giebel; Richard A Spritz
The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 1992;Suppl 2():101-6.
1991: L B Giebel; Richard A Spritz
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(19):8696-9.
1991: L B Giebel; Maria A Musarella; Richard A Spritz
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.
Journal of medical genetics 1991;28(7):464-7.
1991: L B Giebel; R K Tripathi; K M Strunk; Jon M Hanifin; C E Jackson; R A King; Richard A Spritz
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.
American journal of human genetics 1991;48(6):1159-67.
1991: R K Tripathi; L B Giebel; K M Strunk; Richard A Spritz
A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.
Gene expression 1991;1(2):103-10.
1991: L B Giebel; K M Strunk; Richard A Spritz
Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.
Genomics 1991;9(3):435-45.
1991: L B Giebel; R K Tripathi; R A King; Richard A Spritz
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.
The Journal of clinical investigation 1991;87(3):1119-22.
1991: Richard A Spritz; K M Strunk; C L Hsieh; G S Sekhon; U Francke
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.
American journal of human genetics 1991;48(2):318-24.
1990: Richard A Spritz; K Strunk; C S Surowy; Harvey W Mohrenweiser
Human U1-70K ribonucleoprotein antigen gene: organization, nucleotide sequence, and mapping to locus 19q13.3.
Genomics 1990;8(2):371-9.
1990: C S Surowy; George Hoganson; J Gosink; K Strunk; Richard A Spritz
The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved.
Gene 1990;90(2):299-302.
1990: Richard A Spritz; K M Strunk; L B Giebel; R A King
Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism.
The New England journal of medicine 1990;322(24):1724-8.
1990: L B Giebel; K M Strunk; R A King; Jon M Hanifin; Richard A Spritz
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
Proceedings of the National Academy of Sciences of the United States of America 1990;87(9):3255-8.
1989: C S Surowy; V L van Santen; S M Scheib-Wixted; Richard A Spritz
Direct, sequence-specific binding of the human U1-70K ribonucleoprotein antigen protein to loop I of U1 small nuclear RNA.
Molecular and cellular biology 1989;9(10):4179-86.
1988: Richard A Spritz; L B Giebel
The structure and evolution of the spider monkey delta-globin gene.
Molecular biology and evolution 1988;5(1):21-9.
1987: Richard A Spritz; K Strunk; C S Surowy; Sallie O Hoch; David Barton; U Francke
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding.
Nucleic acids research 1987;15(24):10373-91.
1987: V L van Santen; Richard A Spritz
Nucleotide sequence of a bean (Phaseolus vulgaris) U1 small nuclear RNA gene: implications for plant pre-mRNA splicing.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(24):9094-8.
1987: K M Lang; Richard A Spritz
In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences?
Molecular and cellular biology 1987;7(10):3428-37.