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Pamela Fain

Research Profile

Physiology

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TOP 3
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).
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.
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.

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All Publications

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: 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: 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: Erin E Baschal; Theresa A Boyle; Taylor K Armstrong; Sunanda R Babu; Pamela R Fain; Katharine R Grabek; Jean M Jasinski; Marian Rewers; Suparna A Sarkar; Janet C Siebert; Andrea K Steck; George S Eisenbarth
Replication and further characterization of a Type 1 diabetes-associated locus at the telomeric end of the major histocompatibility complex.
Journal of diabetes 2011;3(3):238-47.
2011: Peter R Baker; Jennifer M Barker; Erin E Baschal; Pamela R Fain; Peter A Gottlieb; Priyaanka Nanduri; Marian Rewers; Janet C Siebert; Taylor M Triolo; Taylor K Armstrong; Sunanda R Babu; George S Eisenbarth
Dominant suppression of Addison's disease associated with HLA-B15.
The Journal of clinical endocrinology and metabolism 2011;96(7):2154-62.
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.
2010: Peter R Baker; Erin E Baschal; Pamela R Fain; Taylor M Triolo; Priyaanka Nanduri; Janet C Siebert; Taylor K Armstrong; Sunanda R Babu; Marian Rewers; Peter A Gottlieb; Jennifer M Barker; George S Eisenbarth
Haplotype analysis discriminates genetic risk for DR3-associated endocrine autoimmunity and helps define extreme risk for Addison's disease.
The Journal of clinical endocrinology and metabolism 2010;95(10):E263-70.
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.
2009: Taylor M Triolo; Erin E Baschal; Taylor K Armstrong; Carrie S Toews; Pamela R Fain; Marian Rewers; Liping Yu; Dongmei Miao; George S Eisenbarth; Peter A Gottlieb; Jennifer M Barker
Homozygosity of the polymorphism MICA5.1 identifies extreme risk of progression to overt adrenal insufficiency among 21-hydroxylase antibody-positive patients with type 1 diabetes.
The Journal of clinical endocrinology and metabolism 2009;94(11):4517-23.
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.
2008: Berenice Reed; Kim McFann; William J Kimberling; York Pei; Patricia Gabow; Karen Christopher; Eric Petersen; Catherine Kelleher; Pamela R Fain; Ann Johnson; Robert W Schrier
Presence of de novo mutations in autosomal dominant polycystic kidney disease patients without family history.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2008;52(6):1042-50.
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: Theresa A Aly; Erin E Baschal; Mohamed M Jahromi; Maria S Fernando; Sunanda R Babu; Tasha E Fingerlin; Adam Kretowski; Henry A Erlich; Pamela R Fain; Marian Rewers; George S Eisenbarth
Analysis of single nucleotide polymorphisms identifies major type 1A diabetes locus telomeric of the major histocompatibility complex.
Diabetes 2008;57(3):770-6.
2007: Elise Eller; Pnina Vardi; Kim McFann; Sunanda R Babu; L Yu; Teodorica L Bugawan; Henry A Erlich; G S Eisenbarth; Pamela R Fain
Differential effects of DRB1*0301 and DQA1*0501-DQB1*0201 on the activation and progression of islet cell autoimmunity.
Genes and immunity 2007;8(8):628-33.
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: 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.
2006: Elise Eller; Pnina Vardi; Sunanda R Babu; Teodorica L Bugawan; Henry A Erlich; Liping Yu; Pamela R Fain
Celiac disease and HLA in a Bedouin kindred.
Human immunology 2006;67(11):940-50.
2006: J Ramón Bilbao; Begoña Calvo; Ana M Aransay; Ainhoa Martin-Pagola; Guiomar Perez de Nanclares; Theresa A Aly; Itxaso Rica; Juan Carlos Vitoria; Sonia Gaztambide; J Noble; Pamela R Fain; Zuheir L Awdeh; Chester A Alper; Luis Castaño
Conserved extended haplotypes discriminate HLA-DR3-homozygous Basque patients with type 1 diabetes mellitus and celiac disease.
Genes and immunity 2006;7(7):550-4.
2006: Theresa A Aly; Akane Ide; Mohamed M Jahromi; Jennifer M Barker; Maria S Fernando; Sunanda R Babu; Liping Yu; Dongmei Miao; Henry A Erlich; Pamela R Fain; Katherine Barriga; Jill M Norris; Marian Rewers; George S Eisenbarth
Extreme genetic risk for type 1A diabetes.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(38):14074-9.
2006: Theresa A Aly; Elise Eller; Akane Ide; Katherine Gowan; Sunanda R Babu; Henry A Erlich; Marian Rewers; George S Eisenbarth; Pamela R Fain
Multi-SNP analysis of MHC region: remarkable conservation of HLA-A1-B8-DR3 haplotype.
Diabetes 2006;55(5):1265-9.
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.
2005: Matthew R G Taylor; Dobromir Slavov; Andreas Gajewski; Sylvia Vlcek; Lisa Ku; Pamela R Fain; Elisa Carniel; Andrea Di Lenarda; Gianfranco Sinagra; Mark M Boucek; Jean Cavanaugh; Sharon L Graw; Patsy Ruegg; Jennie Feiger; Xiao Zhu; Debra A Ferguson; Michael R Bristow; Josef Gotzmann; Roland Foisner; Luisa Mestroni
Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy.
Human mutation 2005;26(6):566-74.
2005: Matthew Taylor; Ann M Johnson; Maryellyn Tison; Pamela R Fain; Robert W Schrier
Earlier diagnosis of autosomal dominant polycystic kidney disease: importance of family history and implications for cardiovascular and renal complications.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2005;46(3):415-23.
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.
2005: Elisa Carniel; Matthew R G Taylor; Gianfranco Sinagra; Andrea Di Lenarda; Lisa Ku; Pamela R Fain; Mark M Boucek; Jean Cavanaugh; Snjezana Miocic; Dobromir Slavov; Sharon L Graw; Jennie Feiger; Xiao Zhong Zhu; Dmi Dao; Debra A Ferguson; Michael R Bristow; Luisa Mestroni
Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.
Circulation 2005;112(1):54-9.
2005: Akane Ide; Sunanda R Babu; David T Robles; Tianbao Wang; Henry A Erlich; Teodorica L Bugawan; Marian Rewers; Pamela R Fain; George S Eisenbarth
Homozygosity for premature stop codon of the MHC class I chain-related gene A (MIC-A) is associated with early activation of islet autoimmunity of DR3/4-DQ2/8 high risk DAISY relatives.
Journal of clinical immunology 2005;25(4):303-8.
2005: Akane Ide; Sunanda R Babu; David T Robles; Tianbao Wang; Henry A Erlich; Teodorica L Bugawan; Marian Rewers; Pamela R Fain; George S Eisenbarth
"Extended" A1, B8, DR3 haplotype shows remarkable linkage disequilibrium but is similar to nonextended haplotypes in terms of diabetes risk.
Diabetes 2005;54(6):1879-83.
2005: Pamela R Fain; Kim McFann; Matthew R G Taylor; Maryellyn Tison; Ann M Johnson; Berenice Reed; Robert W Schrier
Modifier genes play a significant role in the phenotypic expression of PKD1.
Kidney international 2005;67(4):1256-67.
2005: Jennifer M Barker; Akane Ide; Corey Hostetler; Liping Yu; Dongmei Miao; Pamela R Fain; George S Eisenbarth; Peter A Gottlieb
Endocrine and immunogenetic testing in individuals with type 1 diabetes and 21-hydroxylase autoantibodies: Addison's disease in a high-risk population.
The Journal of clinical endocrinology and metabolism 2005;90(1):128-34.
2004: Sunanda R Babu; Gavin C Conant; Elise Eller; Christine M Roberts; Katherine Gowan; George S Eisenbarth; Pamela R Fain; Pnina Vardi
A second-generation genome screen for linkage to type 1 diabetes in a Bedouin Arab family.
Annals of the New York Academy of Sciences 2004;1037():157-60.
2004: Elise Eller; Pnina Vardi; Mark J Daly; Sunanda Babu; Christine Roberts; Fan Yang; George S Eisenbarth; Pamela R Fain
IDDM17: polymorphisms in the AMACO gene are associated with dominant protection against type 1A diabetes in a Bedouin Arab family.
Annals of the New York Academy of Sciences 2004;1037():145-9.
2004: Maria J Redondo; Pamela R Fain; Jeffrey P Krischer; Liping Yu; David Cuthbertson; William E Winter; George S Eisenbarth
Expression of beta-cell autoimmunity does not differ between potential dizygotic twins and siblings of patients with type 1 diabetes.
Journal of autoimmunity 2004;23(3):275-9.
2004: William P McNair; Lisa Ku; Matthew R G Taylor; Pamela R Fain; Dmi Dao; Eugene E Wolfel; Luisa Mestroni
SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
Circulation 2004;110(15):2163-7.
2004: Theresa R Pacheco; Nicole Oreskovich; Pamela R Fain
Genetic heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes.
American journal of medical genetics. Part A 2004;127A(3):324-6.
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: Fei Bao; Sunanda R Babu; Christine M Roberts; Allison K Martin; Katherine Gowan; George S Eisenbarth; Pamela R Fain
Single nucleotide polymorphism study of IDDM 17 in a Bedouin Arab family.
Annals of the New York Academy of Sciences 2003;1005():348-51.
2003: Sunanda R Babu; Fei Bao; Christine M Roberts; Allison K Martin; Katherine Gowan; George S Eisenbarth; Pamela R Fain
Caspase 7 is a positional candidate gene for IDDM 17 in a Bedouin Arab family.
Annals of the New York Academy of Sciences 2003;1005():340-3.
2003: Evie Melanitou; Pamela R Fain; George S Eisenbarth
Genetics of type 1A (immune mediated) diabetes.
Journal of autoimmunity 2003;21(2):93-8.
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: York E Miller; Pamela R Fain
Genetic susceptibility to lung cancer.
Seminars in respiratory and critical care medicine 2003;24(2):197-204.
2003: Matthew R G Taylor; Pamela R Fain; Gianfranco Sinagra; Misi L Robinson; Alastair D Robertson; Elisa Carniel; Andrea Di Lenarda; Teresa J Bohlmeyer; Debra A Ferguson; Gary L Brodsky; Mark M Boucek; Jean Lascor; Andrew C Moss; Li Patrick; Gary L Stetler; Francesco Muntoni; Michael R Bristow; Luisa Mestroni
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Journal of the American College of Cardiology 2003;41(5):771-80.
2002: Y S Park; C B Sanjeevi; David T Robles; Liping Yu; Marian Rewers; Peter A Gottlieb; Pamela R Fain; George S Eisenbarth
Additional association of intra-MHC genes, MICA and D6S273, with Addison's disease.
Tissue antigens 2002;60(2):155-63.
2002: Theresa R Pacheco; Gary A Bellus; Nicole M Oreskovich; Janet Talbert; William Old; Pamela R Fain
Exclusion of candidate genes and loci for multiple lentigines syndrome.
The Journal of investigative dermatology 2002;119(2):535-8.
2002: David T Robles; Pamela R Fain; Peter A Gottlieb; George S Eisenbarth
The genetics of autoimmune polyendocrine syndrome type II.
Endocrinology and metabolism clinics of North America 2002;31(2):353-68, vi-vii.
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.
2001: Maria J Redondo; Pamela R Fain; George S Eisenbarth
Genetics of type 1A diabetes.
Recent progress in hormone research 2001;56():69-89.
1999: C A Poole; Tim E Byers; E E Calle; Jessica Bondy; Pamela R Fain; C Rodriguez
Influence of a family history of cancer within and across multiple sites on patterns of cancer mortality risk for women.
American journal of epidemiology 1999;149(5):454-62.
1998: E Kawasaki; J Noble; Henry A Erlich; CL Mulgrew; Pamela R Fain; George S Eisenbarth
Transmission of DQ haplotypes to patients with type 1 diabetes.
Diabetes 1998;47(12):1971-3.
1998: K Sangthongpitag; K R Moore; NM Lapsys; F Bao; Sunanda R Babu; Pamela R Fain; CF Verge
No evidence for linkage of a novel CA repeat polymorphism for apoptosis antigen 1 (APO-1 or fas) with type I diabetes in a Caucasian population.
Human heredity 1998;48(6):343-5.
1998: CF Verge; Pnina Vardi; Sunanda Babu; Fei Bao; Henry A Erlich; Teodorica L Bugawan; D Tiosano; Liping Yu; George S Eisenbarth; Pamela R Fain
Evidence for oligogenic inheritance of type 1 diabetes in a large Bedouin Arab family.
The Journal of clinical investigation 1998;102(8):1569-75.