Works matching AU Bowcock, Anne M.

Results: 64

CARD14 signalosome formation is associated with its endosomal relocation and mTORC1-induced keratinocyte proliferation.

Published in:

Biochemical Journal, 2024, v. 481, n. 18, p. 1143, doi. 10.1042/BCJ20240058

By:

O’Sullivan, Paul A.;
Aidarova, Aigerim;
Afonina, Inna S.;
Manils, Joan;
Thurston, Teresa L. M.;
Instrell, Rachael;
Howell, Michael;
Boeing, Stefan;
Ranawana, Sashini;
Herpels, Melanie B.;
Chetian, Riwia;
Bassa, Matilda;
Flynn, Helen;
Frith, David;
Snijders, Ambrosius P.;
Howes, Ashleigh;
Beyaert, Rudi;
Bowcock, Anne M.;
Ley, Steven C.

Publication type:

Article

CORRIGENDUM: Getting under the skin: the immunogenetics of psoriasis.

Published in:

2005

By:

Bowcock, Anne M.;
Kruger, James G.

Publication type:

Correction Notice

Getting under the skin: the immunogenetics of psoriasis.

Published in:

Nature Reviews Immunology, 2005, v. 5, n. 9, p. 699, doi. 10.1038/nri1689

By:

Bowcock, Anne M.;
Krueger, James G.

Publication type:

Article

A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 9, p. 752, doi. 10.1038/sj.ejhg.5201219

By:

Gordon, Derek;
Haynes, Chad;
Johnnidis, Christopher;
Patel, Shailendra B.;
Bowcock, Anne M.;
Ott, Jürg

Publication type:

Article

Zeroing in on tolerance.

Published in:

Nature Medicine, 2001, v. 7, n. 3, p. 279, doi. 10.1038/85408

By:

Bowcock, Anne M.;
Lovett, Michael

Publication type:

Article

Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.

Published in:

Nature Genetics, 2013, v. 45, n. 2, p. 133, doi. 10.1038/ng.2523

By:

Harbour, J William;
Roberson, Elisha D O;
Anbunathan, Hima;
Onken, Michael D;
Worley, Lori A;
Bowcock, Anne M

Publication type:

Article

Genome-wide association analysis identifies three psoriasis susceptibility loci.

Published in:

Nature Genetics, 2010, v. 42, n. 11, p. 1000, doi. 10.1038/ng.693

By:

Stuart, Philip E.;
Nair, Rajan P.;
Ellinghaus, Eva;
Ding, Jun;
Tejasvi, Trilokraj;
Gudjonsson, Johann E.;
Yun Li;
Weidinger, Stephan;
Eberlein, Bernadette;
Gieger, Christian;
Wichmann, H. Erich;
Kunz, Manfred;
Ike, Robert;
Krueger, Gerald G.;
Bowcock, Anne M.;
Mrowietz, Ulrich;
Lim, Henry W.;
Voorhees, John J.;
Abecasis, Gonçalo R.;
Weichenthal, Michael

Publication type:

Article

A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis.

Published in:

Nature Genetics, 2003, v. 35, n. 4, p. 349, doi. 10.1038/ng1268

By:

Helms, Cynthia;
Li Cao;
Krueger, James G.;
Wijsman, Ellen M.;
Chamian, Francesca;
Gordon, Derek;
Heffernan, Michael;
Robarge, Jason;
Ott, Jurg;
Kwok, Pui-Yan;
Menter, Alan;
Bowcock, Anne M.;
Daw, Jil A. Wright

Publication type:

Article

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

Published in:

Nature Genetics, 2002, v. 31, n. 1, p. 21, doi. 10.1038/ng880

By:

Agarwal, Anil K.;
Arioglu, Elif;
de Almeida, Salome;
Akkoc, Nurullah;
Taylor, Simeon I.;
Bowcock, Anne M.;
Barnes, Robert I.;
Garg, Abhimanyu

Publication type:

Article

Phenotypic Heterogeneity in Patients with Familial Partial Lipodystrophy (Dunnigan Variety) Related to the Site of Missense Mutations in Lamin A/C Gene.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 1, p. 59, doi. 10.1210/jcem.86.1.7121

By:

GARG, ABHIMANYU;
VINAITHEERTHAN, MAHESWARI;
WEATHERALL, PAUL T.;
BOWCOCK, ANNE M.

Publication type:

Article

A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.

Published in:

Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 9, p. 3390, doi. 10.1210/jcem.84.9.6103

By:

Garg, Abhimanyu;
Wilson, Ross;
Barnes, Robert;
Arioglu, Elif;
Zaidi, Zohra;
Gurakan, Figen;
Kocak, Nurten;
O’Rahilly, Stephen;
Taylor, Simeon I.;
Patel, Shailendra B.;
Bowcock, Anne M.

Publication type:

Article

BAP1 deficiency causes loss of melanocytic cell identity in uveal melanoma.

Published in:

2013

By:

Matatall, Katie A.;
Agapova, Olga A.;
Onken, Michael D.;
Worley, Lori A.;
Bowcock, Anne M.;
Harbour, J. William

Publication type:

journal article

Genetic Locus for Psoriasis Identified.

Published in:

Annals of Medicine, 1995, v. 27, n. 2, p. 183, doi. 10.3109/07853899509031956

By:

Bowcock, Anne M.

Publication type:

Article

CARD14 Expression in Dermal Endothelial Cells in Psoriasis.

Published in:

PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0111255

By:

Harden, Jamie L.;
Lewis, Steven M.;
Pierson, Katherine C.;
Suárez-Fariñas, Mayte;
Lentini, Tim;
Ortenzio, Francesca S.;
Zaba, Lisa C.;
Goldbach-Mansky, Raphaela;
Bowcock, Anne M.;
Lowes, Michelle A.

Publication type:

Article

A Genetic Risk Score Combining Ten Psoriasis Risk Loci Improves Disease Prediction.

Published in:

PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019454

By:

Haoyan Chen;
Poon, Annie;
Yeung, Celestine;
Helms, Cynthia;
Pons, Jennifer;
Bowcock, Anne M.;
Pui-Yan Kwok;
Liao, Wilson

Publication type:

Article

Noncanonical microRNAs and endogenous siRNAs in normal and psoriatic human skin.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 737, doi. 10.1093/hmg/dds481

By:

Xia, Jing;
Joyce, Cailin E.;
Bowcock, Anne M.;
Zhang, Weixiong

Publication type:

Article

HOXD10 M319K mutation in a family with isolated congenital vertical talus.

Published in:

Journal of Orthopaedic Research, 2006, v. 24, n. 3, p. 448, doi. 10.1002/jor.20052

By:

Dobbs, Matthew B.;
Gurnett, Christina A.;
Pierce, Brandon;
Exner, G. Ulrich;
Robarge, Jason;
Morcuende, Jose A.;
Cole, William G.;
Templeton, Peter A.;
Foster, Bruce;
Bowcock, Anne M.

Publication type:

Article

Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation

Published in:

Journal of Orthopaedic Research, 2005, v. 23, n. 6, p. 1490, doi. 10.1016/j.orthres.2005.04.011.1100230636

By:

Dobbs, Matthew B.;
Gurnett, Christina A.;
Robarge, Jason;
Gordon, J. Eric;
Morcuende, Jose A.;
Bowcock, Anne M.

Publication type:

Article

Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21.

Published in:

Human Genetics, 2006, v. 119, n. 1/2, p. 113, doi. 10.1007/s00439-005-0115-8

By:

Chao Sun;
Mathur, Punam;
Dupuis, Josée;
Tizard, Rich;
Ticho, Barry;
Crowell, Tom;
Gardner, Humphrey;
Bowcock, Anne M.;
Carulli, John

Publication type:

Article

Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR.

Published in:

Human Genetics, 2005, v. 118, n. 3/4, p. 466, doi. 10.1007/s00439-005-0048-2

By:

Helms, Cynthia;
Saccone, Nancy L.;
Li Cao;
Daw, Jil A. Wright;
Kai Cao;
Hsu, Tony M.;
Taillon-Miller, Patricia;
Shenghui Duan;
Gordon, Derek;
Pierce, Brandon;
Ott, Jurg;
Rice, John;
Fernandez-Vina, Marcelo A.;
Pui-Yan Kwok;
Menter, Alan;
Bowcock, Anne M.

Publication type:

Article

SNTG1, the gene encoding γ1-syntrophin: a candidate gene for idiopathic scoliosis.

Published in:

Human Genetics, 2004, v. 115, n. 1, p. 81, doi. 10.1007/s00439-004-1121-y

By:

Bashiardes, Stavros;
Veile, Rose;
Allen, Missy;
Wise, Carol A.;
Dobbs, Mathew;
Morcuende, Jose A.;
Szappanos, Lazlos;
Herring, John A.;
Bowcock, Anne M.;
Lovett, Michael

Publication type:

Article

Novel immunoglobulin superfamily gene cluster, mapping to a region of human chromosome 17q25, linked to psoriasis susceptibility.

Published in:

Human Genetics, 2003, v. 112, n. 1, p. 34, doi. 10.1007/s00439-002-0851-y

By:

Speckman, Rebecca A.;
Wright Daw, Jil A.;
Helms, Cynthia;
Duan, Shenghui;
Cao, Li;
Taillon-Miller, Patricia;
Kwok, Pui-Yan;
Menter, Alan;
Bowcock, Anne M.

Publication type:

Article

The genetics of psoriasis: a complex disorder of the skin and immune system.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 10, p. 1537, doi. 10.1093/hmg/7.10.1537

By:

Bhalerao, Jayant;
Bowcock, Anne M.

Publication type:

Article

The genetics of psoriasis: a complex disorder of the skin and immune system.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 10, p. 1537, doi. 10.1093/hmg/7.10.1537

By:

Bhalerao, Jayant;
Bowcock, Anne M.

Publication type:

Article

Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 2, p. 195, doi. 10.1093/hmg/7.2.195

By:

Thai, To Hoa;
Du, Fenghe;
Tsan, Julia Tsou;
Jin, Ying;
Phung, Anne;
Spillman, Monique A.;
Massa, Hillary F.;
Muller, Carolyn Y.;
Ashfaq, Raheela;
Mathis, J. Michael;
Miller, David S.;
Trask, Barbara J.;
Baer, Richard;
Bowcock, Anne M.

Publication type:

Article

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites.

Published in:

Human Molecular Genetics, 1993, v. 2, n. 12, p. 2019

By:

Beckmann, Jacques S.;
Tomfohrde, James;
Barnes, Robert I.;
Williams, Michele;
Broux, Odlle;
Richard, Isabelle;
Welssenbach, Jean;
Bowcock, Anne M.

Publication type:

Article

Punctuated evolution of canonical genomic aberrations in uveal melanoma.

Published in:

Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02428-w

By:

Field, Matthew G.;
Durante, Michael A.;
Cai, Louis Z.;
Decatur, Christina L.;
Kurtenbach, Stefan;
Harbour, J. William;
Anbunathan, Hima;
Bowcock, Anne M.

Publication type:

Article

The haemoglobin H disease mental retardation syndrome: molecular studies on the South African case.

Published in:

British Journal of Haematology, 1984, v. 56, n. 1, p. 69, doi. 10.1111/j.1365-2141.1984.tb01272.x

By:

Bowcock, Anne M.;
Van Tonder, Sue;
Jenkins, Trefor

Publication type:

Article

Breast Cancer Genes.

Published in:

Breast Journal, 1997, v. 3, n. S1, p. 1, doi. 10.1111/j.1524-4741.1997.tb00200.x

By:

Bowcock, Anne M.

Publication type:

Article

Conservation of function and primary structure in the BRCA1-associated RING domain (BARD1) protein.

Published in:

Oncogene, 1998, v. 17, n. 16, p. 2143, doi. 10.1038/sj.onc.1202123

By:

Ayi, Teck-Choon;
Tsan, Julia Tsou;
Hwang, Larn-Yuan;
Bowcock, Anne M;
Baer, Richard

Publication type:

Article

Deep sequencing of small RNAs from human skin reveals major alterations in the psoriasis miRNAome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 20, p. 4025, doi. 10.1093/hmg/ddr331

By:

Joyce, Cailin E.;
Zhou, Xiang;
Xia, Jing;
Ryan, Caitriona;
Thrash, Breck;
Menter, Alan;
Zhang, Weixiong;
Bowcock, Anne M.

Publication type:

Article

The genetics of psoriasis, psoriatic arthritis and atopic dermatitis.

Published in:

Human Molecular Genetics, 2004, v. 13, n. suppl_1, p. R43

By:

Bowcock, Anne M.;
Cookson, William O.C.M.

Publication type:

Article

Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma.

Published in:

Cancers, 2022, v. 14, n. 17, p. 4105, doi. 10.3390/cancers14174105

By:

Cole, Yasemin C.;
Zhang, Yu-Zhi;
Gallo, Beatrice;
Januszewski, Adam P.;
Nastase, Anca;
Essex, David J.;
Thaung, Caroline M. H.;
Cohen, Victoria M. L.;
Sagoo, Mandeep S.;
Bowcock, Anne M.

Publication type:

Article

Fine mapping of eight psoriasis susceptibility loci.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 844, doi. 10.1038/ejhg.2014.172

By:

Das, Sayantan;
Stuart, Philip E;
Ding, Jun;
Tejasvi, Trilokraj;
Li, Yanming;
Tsoi, Lam C;
Chandran, Vinod;
Fischer, Judith;
Helms, Cynthia;
Duffin, Kristina Callis;
Voorhees, John J;
Bowcock, Anne M;
Krueger, Gerald G;
Lathrop, G Mark;
Nair, Rajan P;
Rahman, Proton;
Abecasis, Goncalo R;
Gladman, Dafna;
Elder, James T

Publication type:

Article

Driver Mutations in Uveal Melanoma: Associations With Gene Expression Profile and Patient Outcomes.

Published in:

2016

By:

Decatur, Christina L.;
Ong, Erin;
Garg, Nisha;
Anbunathan, Hima;
Bowcock, Anne M.;
Field, Matthew G.;
Harbour, J. William

Publication type:

journal article

Association of Cardiovascular and Metabolic Disease Genes with Psoriasis.

Published in:

Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 836, doi. 10.1038/jid.2012.366

By:

Lu, Yingchang;
Chen, Haoyan;
Nikamo, Pernilla;
Qi Low, Hui;
Helms, Cynthia;
Seielstad, Mark;
Liu, Jianjun;
Bowcock, Anne M;
Stahle, Mona;
Liao, Wilson

Publication type:

Article

Protective Effect of Human Endogenous Retrovirus K dUTPase Variants on Psoriasis Susceptibility.

Published in:

Journal of Investigative Dermatology, 2012, v. 132, n. 7, p. 1833, doi. 10.1038/jid.2012.69

By:

Lai, Olivia Y;
Chen, Haoyan;
Michaud, Henri-Alexandre;
Hayashi, Genki;
Kuebler, Peter J;
Hultman, Gustaf K;
Ariza, Maria-Eugenia;
Williams, Marshall V;
Batista, Mariana D;
Nixon, Douglas F;
Foerster, John;
Bowcock, Anne M;
Liao, Wilson

Publication type:

Article

Genome-Wide Meta-Analysis of Psoriatic Arthritis Identifies Susceptibility Locus at REL.

Published in:

Journal of Investigative Dermatology, 2012, v. 132, n. 4, p. 1133, doi. 10.1038/jid.2011.415

By:

Ellinghaus, Eva;
Stuart, Philip E;
Ellinghaus, David;
Nair, Rajan P;
Debrus, Sophie;
Raelson, John V;
Belouchi, Majid;
Tejasvi, Trilokraj;
Li, Yanming;
Tsoi, Lam C;
Onken, Anna T;
Esko, Tonu;
Metspalu, Andres;
Rahman, Proton;
Gladman, Dafna D;
Bowcock, Anne M;
Helms, Cynthia;
Krueger, Gerald G;
Koks, Sulev;
Kingo, Külli

Publication type:

Article

A Subset of Methylated CpG Sites Differentiate Psoriatic from Normal Skin.

Published in:

Journal of Investigative Dermatology, 2012, v. 132, n. 3 part 1, p. 583, doi. 10.1038/jid.2011.348

By:

Roberson, Elisha D O;
Liu, Ying;
Ryan, Caitriona;
Joyce, Cailin E;
Duan, Shenghui;
Cao, Li;
Martin, Ann;
Liao, Wilson;
Menter, Alan;
Bowcock, Anne M

Publication type:

Article

Targeting Skin: Vitiligo and Autoimmunity.

Published in:

Journal of Investigative Dermatology, 2012, v. 132, n. 1, p. 13, doi. 10.1038/jid.2011.353

By:

Bowcock, Anne M;
Fernandez-Vina, Marcelo

Publication type:

Article

Carriers of Rare Missense Variants in IFIH1 Are Protected from Psoriasis.

Published in:

Journal of Investigative Dermatology, 2010, v. 130, n. 12, p. 2768, doi. 10.1038/jid.2010.214

By:

Yonghong Li;
Wilson Liao;
Cargill, Michele;
Chang, Monica;
Matsunami, Nori;
Bing-Jian Feng;
Poon, Annie;
Callis-Duffin, Kristina P.;
Catanese, Joseph J.;
Bowcock, Anne M.;
Leppert, Mark F.;
Pui-Yan Kwok;
Krueger, Gerald G.;
Begovich, Ann B.

Publication type:

Article

Further Genetic Evidence for Three Psoriasis-Risk Genes: ADAM33, CDKAL1, and PTPN22.

Published in:

Journal of Investigative Dermatology, 2009, v. 129, n. 3, p. 629, doi. 10.1038/jid.2008.297

By:

Li, Yonghong;
Liao, Wilson;
Chang, Monica;
Schrodi, Steven J.;
Bui, Nam;
Catanese, Joseph J.;
Poon, Annie;
Matsunami, Nori;
Callis-Duffin, Kristina P.;
Leppert, Mark F.;
Bowcock, Anne M.;
Kwok, Pui-Yan;
Krueger, Gerald G.;
Begovich, Ann B.

Publication type:

Article

Montagna Symposium 2008: The Biologic Basis of Psoriasis.

Published in:

Journal of Investigative Dermatology, 2009, v. 129, n. 2, p. 259, doi. 10.1038/jid.2008.402

By:

Blauvelt, Andrew;
Bickenbach, Jackie R.;
Kulesz-Martin, Molly F.;
Bowcock, Anne M.

Publication type:

Article

Investigation of the Chromosome 17q25 PSORS2 Locus in Atopic Dermatitis.

Published in:

Journal of Investigative Dermatology, 2006, v. 126, n. 3, p. 603, doi. 10.1038/sj.jid.5700108

By:

Morar, Nilesh;
Bowcock, Anne M.;
Harper, John I.;
Cookson, William O. C. M.;
Moffatt, Miriam F.

Publication type:

Article

Psoriasis Genetics: The Way Forward.

Published in:

2004

By:

Bowcock, Anne M.

Publication type:

Editorial

Direct genomic selection.

Published in:

Nature Methods, 2005, v. 2, n. 1, p. 63, doi. 10.1038/nmeth0105-63

By:

Bashiardes, Stavros;
Veile, Rose;
Helms, Cynthia;
Mardis, Elaine R.;
Bowcock, Anne M.;
Lovett, Michael

Publication type:

Article

Biology of advanced uveal melanoma and next steps for clinical therapeutics.

Published in:

Pigment Cell & Melanoma Research, 2015, v. 28, n. 2, p. 135, doi. 10.1111/pcmr.12304

By:

Luke, Jason J.;
Triozzi, Pierre L.;
McKenna, Kyle C.;
Van Meir, Erwin G.;
Gershenwald, Jeffrey E.;
Bastian, Boris C.;
Gutkind, J. Silvio;
Bowcock, Anne M.;
Streicher, Howard Z.;
Patel, Poulam M.;
Sato, Takami;
Sossman, Jeffery A.;
Sznol, Mario;
Welch, Jack;
Thurin, Magdalena;
Selig, Sara;
Flaherty, Keith T.;
Carvajal, Richard D.

Publication type:

Article

The Tetratricopeptide Repeat Domain 7 Gene is Mutated in Flaky Skin Mice: A Model for Psoriasis, Autoimmunity, and Anemia.

Published in:

Experimental Biology & Medicine, 2005, v. 230, n. 9, p. 659, doi. 10.1177/153537020523000908

By:

Helms, Cynthia;
Pelsue, Stephen;
Cao, Li;
Lamb, Erika;
Loffredo, Brett;
Taillon-Miller, Patricia;
Herrin, Brooke;
Burzenski, Lisa M.;
Gott, Bruce;
Lyons, Bonnie L.;
Keppler, Deana;
Shultz, Leonard D.;
Bowcock, Anne M.

Publication type:

Article

Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.

Published in:

2003

By:

Haque, Wasim A.;
Oral, Elif Arioglu;
Dietz, Kelly;
Bowcock, Anne M.;
Agarwal, Anil K.;
Garg, Abhimanyu

Publication type:

journal article

Human Population Expansion and Microsatellite Variation.

Published in:

Molecular Biology & Evolution, 2000, v. 17, n. 5, p. 757, doi. 10.1093/oxfordjournals.molbev.a026354

By:

Zhivotovsky, Lev A.;
Bennett, Lynda;
Bowcock, Anne M.;
Feldman, Marcus W.

Publication type:

Article