Search Results - "FAIN, Pamela R."

NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome by Levandowski, Cecilia B., Mailloux, Christina M., Ferrara, Tracey M., Gowan, Katherine, Ben, Songtao, Jin, Ying, McFann, Kimberly K., Holland, Paulene J., Fain, Pamela R., Dinarello, Charles A., Spritz, Richard A.

“…Nuclear localization leucine-rich-repeat protein 1 (NLRP1) is a key regulator of the innate immune system, particularly in the skin where, in response to…”
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Comprehensive Association Analysis of Candidate Genes for Generalized Vitiligo Supports XBP1, FOXP3, and TSLP by Birlea, Stanca A., Jin, Ying, Bennett, Dorothy C., Herbstman, Deborah M., Wallace, Margaret R., McCormack, Wayne T., Helen Kemp, E., Gawkrodger, David J., Weetman, Anthony P., Picardo, Mauro, Leone, Giovanni, Taïeb, Alain, Jouary, Thomas, Ezzedine, Khaled, van Geel, Nanja, Lambert, Jo, Overbeck, Andreas, Fain, Pamela R., Spritz, Richard A.

“…We previously carried out a genome-wide association study of generalized vitiligo (GV) in non-Hispanic whites, identifying 13 confirmed susceptibility loci. In…”
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Extreme Genetic Risk for Type 1A Diabetes by Aly, Theresa A., Ide, Akane, Jahromi, Mohamed M., Barker, Jennifer M., Fernando, Maria S., Babu, Sunanda R., Yu, Liping, Miao, Dongmei, Erlich, Henry A., Fain, Pamela R., Barriga, Katherine J., Norris, Jill M., Rewers, Marian J., Eisenbarth, George S.

“…Type 1A diabetes (T1D) is an autoimmune disorder the risk of which is increased by specific HLA DR/DQ alleles [e.g., DRB1*03DQB1*0201 (DR3) or…”
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Concordance for islet autoimmunity among monozygotic twins by Redondo, Maria J, Jeffrey, Joy, Fain, Pamela R, Eisenbarth, George S, Orban, Tihamer

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Presence of De Novo Mutations in Autosomal Dominant Polycystic Kidney Disease Patients Without Family History by Reed, Berenice, PhD, McFann, Kim, PhD, Kimberling, William J., PhD, Pei, York, MD, Gabow, Patricia A., MD, Christopher, Karen, Petersen, Eric, Kelleher, Catherine, MD, Fain, Pamela R., PhD, Johnson, Ann, MS, Schrier, Robert W., MD

“…Background At the University of Colorado Health Sciences Center, on detailed questioning, approximately 10% of patients with autosomal dominant polycystic…”
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Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy by Campbell, Nzali, Sinagra, Gianfranco, Jones, Kenneth L, Slavov, Dobromir, Gowan, Katherine, Merlo, Marco, Carniel, Elisa, Fain, Pamela R, Aragona, Pierluigi, Di Lenarda, Andrea, Mestroni, Luisa, Taylor, Matthew R G

“…Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation…”
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Fine Mapping of Chromosome 6q23-25 Region in Familial Lung Cancer Families Reveals RGS17 as a Likely Candidate Gene by MING YOU, DAOLONG WANG, YAN LIU, WEIDONG WEN, PING YANG, ZHIFU SUN, PINNEY, Susan M, WEI ZHENG, SHU, Xiao-Ou, JIRONG LONG, GAO, Yu-Tang, XIANG, Yong-Bing, PENGYUAN LIU, CHOW, Wong-Ho, ROTHMAN, Nat, PETERSEN, Gloria M, DE ANDRADE, Mariza, YANHONG WU, CUNNINGHAM, Julie M, WIEST, Jonathan S, FAIN, Pamela R, SCHWARTZ, Ann G, GIRARD, Luc, VIKIS, Haris, GAZDAR, Adi, GABA, Colette, ROTHSCHILD, Henry, MANDAL, Diptasri, COONS, Teresa, LEE, Juwon, KUPERT, Elena, SEMINARA, Daniela, MINNA, John, BAILEY-WILSON, Joan E, JAMES, Michael, AMOS, Christopher I, ANDERSON, Marshall W, YAN LU, YIAN WANG, MIN WANG, QIONG CHEN, DONGMEI JIA

“…Purpose: We have previously mapped a major susceptibility locus influencing familial lung cancer risk to chromosome 6q23-25. However, the causal gene at this…”
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Genome-wide analysis of copy number variation in type 1 diabetes by Grayson, Britney L, Smith, Mary Ellen, Thomas, James W, Wang, Lily, Dexheimer, Phil, Jeffrey, Joy, Fain, Pamela R, Nanduri, Priyaanka, Eisenbarth, George S, Aune, Thomas M

“…Type 1 diabetes (T1D) tends to cluster in families, suggesting there may be a genetic component predisposing to disease. However, a recent large-scale…”
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Modifier genes play a significant role in the phenotypic expression of PKD1 by FAIN, Pamela R, MCFANN, Kimberly K, TAYLOR, Matthew R. G, TISON, Maryellyn, JOHNSON, Ann M, REED, Berenice, SCHRIER, Robert W

“…Polycystic kidney disease type 1 (PKD1) is characterized by extreme variation in the severity and progression of renal and extrarenal phenotypes. There are…”
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Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease by PATERSON, Andrew D, MAGISTRONI, Riccardo, NING HE, KAIRONG WANG, JOHNSON, Ann, FAIN, Pamela R, DICKS, Elizabeth, PARFREY, Patrick, GEORGE-HYSLOP, Peter St, PEI, York

“…Significant intrafamilial phenotypic variability is well documented in autosomal dominant polycystic kidney disease (ADPKD) and suggests a modifier effect. In…”
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Analysis of Single Nucleotide Polymorphisms Identifies Major Type 1A Diabetes Locus Telomeric of the Major Histocompatibility Complex by Aly, Theresa A, Baschal, Erin E, Jahromi, Mohamed M, Fernando, Maria S, Babu, Sunanda R, Fingerlin, Tasha E, Kretowski, Adam, Erlich, Henry A, Fain, Pamela R, Rewers, Marian J, Eisenbarth, George S

“…Analysis of Single Nucleotide Polymorphisms Identifies Major Type 1A Diabetes Locus Telomeric of the Major Histocompatibility Complex Theresa A. Aly 1 , 2 ,…”
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Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants by Jin, Ying, Andersen, Genevieve, Yorgov, Daniel, Ferrara, Tracey M, Ben, Songtao, Brownson, Kelly M, Holland, Paulene J, Birlea, Stanca A, Siebert, Janet, Hartmann, Anke, Lienert, Anne, van Geel, Nanja, Lambert, Jo, Luiten, Rosalie M, Wolkerstorfer, Albert, Wietze van der Veen, J P, Bennett, Dorothy C, Taïeb, Alain, Ezzedine, Khaled, Kemp, E Helen, Gawkrodger, David J, Weetman, Anthony P, Kõks, Sulev, Prans, Ele, Kingo, Külli, Karelson, Maire, Wallace, Margaret R, McCormack, Wayne T, Overbeck, Andreas, Moretti, Silvia, Colucci, Roberta, Picardo, Mauro, Silverberg, Nanette B, Olsson, Mats, Valle, Yan, Korobko, Igor, Böhm, Markus, Lim, Henry W, Hamzavi, Iltefat, Zhou, Li, Mi, Qing-Sheng, Fain, Pamela R, Santorico, Stephanie A, Spritz, Richard A

“…Richard Spritz and colleagues present a genome-wide association study of autoimmune vitiligo in 4,680 cases and 39,586 controls and report 23 new risk loci…”
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Congruence as a measurement of extended haplotype structure across the genome by Baschal, Erin E, Jasinski, Jean M, Boyle, Theresa A, Fain, Pamela R, Eisenbarth, George S, Siebert, Janet C

“…Historically, extended haplotypes have been defined using only a few data points, such as alleles for several HLA genes in the MHC. High-density SNP data, and…”
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NALP1 in Vitiligo-Associated Multiple Autoimmune Disease by Jin, Ying, Mailloux, Christina M, Gowan, Katherine, Riccardi, Sheri L, LaBerge, Greggory, Bennett, Dorothy C, Fain, Pamela R, Spritz, Richard A

“…A region on chromosome 17 has been associated with a range of epidemiologically associated autoimmune and autoinflammatory diseases, including vitiligo. Using…”
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Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo by Jin, Ying, Birlea, Stanca A, Fain, Pamela R, Ferrara, Tracey M, Ben, Songtao, Riccardi, Sheri L, Cole, Joanne B, Gowan, Katherine, Holland, Paulene J, Bennett, Dorothy C, Luiten, Rosalie M, Wolkerstorfer, Albert, van der Veen, J P Wietze, Hartmann, Anke, Eichner, Saskia, Schuler, Gerold, van Geel, Nanja, Lambert, Jo, Kemp, E Helen, Gawkrodger, David J, Weetman, Anthony P, Taïeb, Alain, Jouary, Thomas, Ezzedine, Khaled, Wallace, Margaret R, McCormack, Wayne T, Picardo, Mauro, Leone, Giovanni, Overbeck, Andreas, Silverberg, Nanette B, Spritz, Richard A

“…Richard Spritz and colleagues report genome-wide association analyses identifying 13 new susceptibility loci for generalized vitiligo. Their functional pathway…”
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Genetics of Autoimmune Thyroiditis in Type 1 Diabetes Reveals a Novel Association With DPB10201: Data From the Type 1 Diabetes Genetics Consortium by Kahles, Heinrich, Fain, Pamela R, Baker, Peter, Eisenbarth, George, Badenhoop, Klaus

“…Autoimmune thyroiditis occurs in 10-25% of patients with type 1 diabetes (T1D). Most of these patients are also positive for thyroid peroxidase (TPO)…”
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Identification of a novel tumor suppressor gene p34 on human chromosome 6q25.1 by MIN WANG, VIKIS, Haris G, DE ANDRADE, Mariza, PING YANG, WIEST, Jonathan S, FAIN, Pamela R, SCHWARTZ, Ann G, GAZDAR, Adi, MINNA, John, GABA, Colette, ROTHSCHILD, Henry, MANDAL, Diptasri, YIAN WANG, KUPERT, Elena, SEMINARA, Daniela, YAN LIU, VISWANATHAN, Avinash, GOVINDAN, Ramaswamy, ANDERSON, Marshall W, MING YOU, DONGMEI JIA, DAOLONG WANG, BIERUT, Laura J, BAILEY-WILSON, Joan E, AMOS, Christopher I, PINNEY, Susan M, PETERSEN, Gloria M

“…In this study, we observed loss of heterozygosity (LOH) in human chromosomal fragment 6q25.1 in sporadic lung cancer patients. LOH was observed in 65% of the…”
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Variant of TYR and Autoimmunity Susceptibility Loci in Generalized Vitiligo by Jin, Ying, Birlea, Stanca A, Fain, Pamela R, Gowan, Katherine, Riccardi, Sheri L, Holland, Paulene J, Mailloux, Christina M, Sufit, Alexandra J.D, Hutton, Saunie M, Amadi-Myers, Anita, Bennett, Dorothy C, Wallace, Margaret R, McCormack, Wayne T, Kemp, E. Helen, Gawkrodger, David J, Weetman, Anthony P, Picardo, Mauro, Leone, Giovanni, Taïeb, Alain, Jouary, Thomas, Ezzedine, Khaled, van Geel, Nanny, Lambert, Jo, Overbeck, Andreas, Spritz, Richard A

“…The results of a genomewide association study of generalized vitiligo implicate genes involved in the immune response and also a variant of TYR, which encodes…”
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Genome-Wide Association Study of Generalized Vitiligo in an Isolated European Founder Population Identifies SMOC2, in Close Proximity to IDDM8 by Birlea, Stanca A., Gowan, Katherine, Fain, Pamela R., Spritz, Richard A.

“…Generalized vitiligo is a common disorder in which patchy loss of skin and hair pigmentation principally appears to result from autoimmune loss of melanocytes…”
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Genetic Variations in NALP1 Are Associated with Generalized Vitiligo in a Romanian Population by Jin, Ying, Birlea, Stanca A., Fain, Pamela R., Spritz, Richard A.

“…Generalized vitiligo is a common, multifactorial, polygenic disease in which autoimmune loss of melanocytes results in depigmented spots of skin, overlying…”
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