Imperial College London

ProfessorAnneBowcock

Faculty of MedicineNational Heart & Lung Institute

Visiting Professor
 
 
 
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Contact

 

+44 (0)20 7594 1511a.bowcock

 
 
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Location

 

Guy Scadding BuildingRoyal Brompton Campus

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Summary

 

Publications

Publication Type
Year
to

225 results found

Gao X, Gordon D, Zhang D, Browne R, Helms C, Gillum J, Weber S, Devroy S, Swaney S, Dobbs M, Morcuende J, Sheffield V, Lovett M, Bowcock A, Herring J, Wise Cet al., 2007, CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 80, Pages: 957-965, ISSN: 0002-9297

Journal article

Council M, Cornelius LA, Bowcock AM, 2007, The V122M variant of the melanocortin 1 receptor is associated with melanoma, 68th Annual Meeting of the Society-for-Investigative-Dermatology, Publisher: NATURE PUBLISHING GROUP, Pages: S144-S144, ISSN: 0022-202X

Conference paper

Lowes MA, Bowcock AM, Krueger JG, 2007, Pathogenesis and therapy of psoriasis, NATURE, Vol: 445, Pages: 866-873, ISSN: 0028-0836

Journal article

Gurnett CA, Dobbs MB, Keppel CR, Pincus ER, Jansen LA, Bowcock AMet al., 2007, Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3, NEUROGENETICS, Vol: 8, Pages: 61-63, ISSN: 1364-6745

Journal article

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MBet al., 2007, Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol: 143A, Pages: 27-32, ISSN: 1552-4825

Journal article

Liu Y, Krueger JG, Bowcock AM, 2007, Psoriasis: genetic associations and immune system changes, GENES AND IMMUNITY, Vol: 8, Pages: 1-12, ISSN: 1466-4879

Journal article

Gurnett CA, Trevathan E, Dodson WE, Bowcock AMet al., 2006, Absence of X-chromosome microdeletions in three girls with Aicardi syndrome, 131st Annual Meeting of the American-Neurological-Association, Publisher: WILEY-LISS, Pages: 627-627, ISSN: 0364-5134

Conference paper

Gurnett CA, Dobbs MB, Nordsieck EJ, Keppel C, Goldfarb CA, Morcuende JA, Bowcock AMet al., 2006, Evidence for an additional locus for split Hand/Foot malformation in chromosome region 8q21.11-q22-3, AMERICAN JOURNAL OF MEDICAL GENETICS PART A, Vol: 140A, Pages: 1744-1748, ISSN: 1552-4825

Journal article

Gale SE, Frolov A, Han XL, Bickel PE, Cao L, Bowcock A, Schaffer JE, Ory DSet al., 2006, A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation, JOURNAL OF BIOLOGICAL CHEMISTRY, Vol: 281, Pages: 11082-11089, ISSN: 0021-9258

Journal article

Haider AS, Peters SB, Kaporis H, Cardinale I, Fei J, Ott J, Blumenberg M, Bowcock AM, Krueger JG, Carucci JAet al., 2006, Genomic analysis defines a cancer-specific gene expression signature for human squamous cell carcinoma and distinguishes malignant hyperproliferation from benign hyperplasia, JOURNAL OF INVESTIGATIVE DERMATOLOGY, Vol: 126, Pages: 869-881, ISSN: 0022-202X

Journal article

Sun C, Mathur P, Dupuis J, Tizard R, Ticho B, Crowell T, Gardner H, Bowcock AM, Carulli Jet al., 2006, Peptidoglycan recognition proteins Pglyrp3 and Pglyrp4 are encoded from the epidermal differentiation complex and are candidate genes for the Psors4 locus on chromosome 1q21, HUMAN GENETICS, Vol: 119, Pages: 113-125, ISSN: 0340-6717

Journal article

Morar N, Bowcock AM, Harper JI, Cookson WOCM, Moffatt MFet al., 2006, Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis, JOURNAL OF INVESTIGATIVE DERMATOLOGY, Vol: 126, Pages: 603-606, ISSN: 0022-202X

Journal article

Dobbs MB, Gurnett CA, Pierce B, Exner GU, Robarge J, Morcuende JA, Cole WG, Templeton PA, Foster B, Bowcock AMet al., 2006, HOXD10 M319K mutation in a family with isolated congenital vertical Talus, JOURNAL OF ORTHOPAEDIC RESEARCH, Vol: 24, Pages: 448-453, ISSN: 0736-0266

Journal article

Helms C, Saccone NL, Cao L, Daw JAW, Cao K, Hsu TM, Taillon-Miller P, Duan SH, Gordon D, Pierce B, Ott J, Rice J, Fernandez-Vina MA, Kwok PY, Menter A, Bowcock AMet al., 2005, Localization of PSORS1 to a haplotype block harboring HLA-C and distinct from corneodesmosin and HCR, HUMAN GENETICS, Vol: 118, Pages: 466-476, ISSN: 0340-6717

Journal article

Daly MJ, Goldstein DB, Rioux JD, Hafler DA, Seed B, Bowcock A, Kere J, Foote SJ, Cookson W, Wakeland EK, Goodnow CC, Abbas AK, Rao A, Ting J, Vyse TJ, Wicker LSet al., 2005, Discussion, Pages: 19-30, ISSN: 1528-2511

Conference paper

Hafler DA, Rao A, Goodnow CC, Abbas AK, Wakeland EK, Behrens TW, Goldstein DB, Kere J, Cookson W, Seed B, Lindgren C, Bowcock A, Kuchroo VK, Vyse TJ, Wijmenga C, Wicker LSet al., 2005, Discussion, Pages: 192-199, ISSN: 1528-2511

Conference paper

Abbas AK, Behrens TW, Bowcock A, Cookson W, Foote SJ, Goodnow CC, Hafler DA, Kere J, Kuchroo VK, Rao A, Rioux JD, Seed B, Ting J, Vyse TJ, Wakeland EK, Wicker LS, Wijmenga Cet al., 2005, Discussion, Pages: 65-75, ISSN: 1528-2511

Conference paper

Dobbs MB, Gurnett CA, Robarge J, Gordon JE, Morcuende JA, Bowcock AMet al., 2005, Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation, JOURNAL OF ORTHOPAEDIC RESEARCH, Vol: 23, Pages: 1490-1494, ISSN: 0736-0266

Journal article

Dobbs MB, Gurnett CA, Robarge J, Gordon JE, Morcuende JA, Bowcock AMet al., 2005, Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation., J Orthop Res, Vol: 23, Pages: 1490-1494, ISSN: 0736-0266

Isolated foot anomalies, including congenital vertical talus, were shown recently to occur in heterozygous carriers of CDMP-1 (cartilage-derived morphogenetic protein-1) gene mutations. Six families with isolated congenital vertical talus with apparent autosomal dominant inheritance were ascertained. DNA was isolated from 17 affected individuals and 24 unaffected individuals from these families and subjected to mutational analysis of the CDMP-1 gene. A missense mutation was identified (1312C>T) that results in an R438C substitution in the CDMP-1 active domain. This segregated with disease in one Northeren American family. Phenotypic variability in this family includes brachydactyly type C, clinodactyly, calcaneo valgus deformity, and congenital vertical talus. Metacarpophalangeal profiles (MCPPs) confirm incomplete penetrance in one family member. Hence, CDMP-1 mutations may be found in individuals with apparently isolated CVT, although careful examination of family members may reveal additional, subtle hand and foot abnormalities. However, mutations in CDMP-1 do not appear to be a frequent cause of isolated congenital vertical talus.

Journal article

Helms C, Pelsue S, Cao L, Lamb E, Loffredo B, Taillon-Miller P, Herrin B, Burzenski LM, Gott B, Lyons BL, Keppler D, Shultz LD, Bowcock AMet al., 2005, The tetratricopeptide repeat domain 7 gene is mutated in flaky skin mice: A model for psoriasis, autoimmunity, and anemia, EXPERIMENTAL BIOLOGY AND MEDICINE, Vol: 230, Pages: 659-667, ISSN: 1535-3702

Journal article

Bowcock AM, Krueger JG, 2005, Getting under the skin: The immunogenetics of psoriasis, NATURE REVIEWS IMMUNOLOGY, Vol: 5, Pages: 699-711, ISSN: 1474-1733

Journal article

Morar N, Bowcock AM, Harper J, Cookson WO, Moffatt MFet al., 2005, Investigation of the chromosome 17q25 PSORS2 locus in atopic dermatitis, 35th Annual Meeting of the European-Society-for-Dermatological-Research, Publisher: BLACKWELL PUBLISHING, Pages: A25-A25, ISSN: 0022-202X

Conference paper

Williams F, Meenagh A, Sleator C, Cook D, Fernandez-Vina M, Bowcock AM, Middleton Det al., 2005, Activating killer cell immunoglobulin-like receptor gene KIR2DS1 is associated with psoriatic arthritis, HUMAN IMMUNOLOGY, Vol: 66, Pages: 836-841, ISSN: 0198-8859

Journal article

Haider A, Cardinale I, Bowcock AM, Ott J, Krueger JG, Carucci JAet al., 2005, Regulation of malignant hyperproliferation: unique gene expression and immune microenvironment in squamous cell carcinoma, 66th Annual Meeting of the Society-for-Investigative-Dermatology, Publisher: BLACKWELL PUBLISHING INC, Pages: A21-A21, ISSN: 0022-202X

Conference paper

Gardner JM, Bowers R, Geula F, Ivanovich J, Cornelius LA, Bowcock AMet al., 2005, CDKN2A intronic variants in melanoma identified using Trangenomic WAVE technology: potential significance, 66th Annual Meeting of the Society-for-Investigative-Dermatology, Publisher: BLACKWELL PUBLISHING INC, Pages: A149-A149, ISSN: 0022-202X

Conference paper

Krueger JG, Bowcock A, 2005, Psoriasis pathophysiology: current concepts of pathogenesis, ANNALS OF THE RHEUMATIC DISEASES, Vol: 64, Pages: 30-36, ISSN: 0003-4967

Journal article

Gurnett CA, Dobbs MB, Jansen LA, Bowcock AMet al., 2005, Identification of locus for complex febrile seizures on chromosome 12q22-q23.3 in a North American family, Joint Annual Meeting of the American-Epilepsy-Society/American-Clinical-Neurophsiology-Society, Publisher: BLACKWELL PUBLISHING, Pages: 367-368, ISSN: 0013-9580

Conference paper

Bashiardes S, Veile R, Helms C, Mardis ER, Bowcock AM, Lovett Met al., 2005, Direct genomic selection, NATURE METHODS, Vol: 2, Pages: 63-69, ISSN: 1548-7091

Journal article

Bowcock AM, 2005, The genetics of psoriasis and autommunity, ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, Vol: 6, Pages: 93-122, ISSN: 1527-8204

Journal article

Bowcock AM, 2005, Understanding the pathogenesis of psoriasis, psoriatic arthritis, and autoimmunity via a fusion of molecular genetics and immunology, IMMUNOLOGIC RESEARCH, Vol: 32, Pages: 45-56, ISSN: 0257-277X

Journal article

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