Search Results - Richard C. Trembath

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  1. 1
    Activating and inactivating mutations in the human GNAS1 gene

    Activating and inactivating mutations in the human GNAS1 gene by Micheala A. Aldred, Richard C. Trembath

    Published 2000
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  2. 2
    Searching for the Major Histocompatibility Complex Psoriasis Susceptibility Gene

    Searching for the Major Histocompatibility Complex Psoriasis Susceptibility Gene by Francesca Capon, Margo Munro, Richard C. Trembath, Juliet N. Barker

    Published 2002
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  3. 3
    Psoriasis and Other Complex Trait Dermatoses: From Loci to Functional Pathways

    Psoriasis and Other Complex Trait Dermatoses: From Loci to Functional Pathways by Francesca Capon, A. David Burden, Richard C. Trembath, Juliet N. Barker

    Published 2011
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  4. 4
    Bone Morphogenetic Protein (BMP) and Activin Type II Receptors Balance BMP9 Signals Mediated by Activin Receptor-like Kinase-1 in Human Pulmonary Artery Endothelial Cells

    Bone Morphogenetic Protein (BMP) and Activin Type II Receptors Balance BMP9 Signals Mediated by Activin Receptor-like Kinase-1 in Human Pulmonary Artery Endothelial Cells by Paul D. Upton, Rachel Davies, Richard C. Trembath, Nicholas W. Morrell

    Published 2009
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  5. 5
    γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis

    γ-Secretase Mutations in Hidradenitis Suppurativa: New Insights into Disease Pathogenesis by Andrew Pink, Michael A. Simpson, Nemesha Desai, Richard C. Trembath, Juliet N. Barker

    Published 2012
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  6. 6
    Mutations of the<i>PDS</i>Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred Syndrome

    Mutations of the<i>PDS</i>Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred Syndrome by Julie P. Taylor, Russell Metcalfe, Philip F. Watson, Anthony P. Weetman, Richard C. Trembath

    Published 2002
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  7. 7
    Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis

    Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis by Marie-José Bijlmakers, Seshu K. Kanneganti, Juliet N. Barker, Richard C. Trembath, Francesca Capon

    Published 2011
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  8. 8
    Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy.

    Parental origin of Gs alpha gene mutations in Albright's hereditary osteodystrophy. by Louise C. Wilson, M E Oude Luttikhuis, Peter T. Clayton, William D. Fraser, Richard C. Trembath

    Published 1994
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  9. 9
    Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

    Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype by Sue Shackleton, Dawn T. Smallwood, Peter T. Clayton, Louise C. Wilson, Anil Agarwal, Abhimanyu Garg, Richard C. Trembath

    Published 2005
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  10. 10
    Altered Growth Responses of Pulmonary Artery Smooth Muscle Cells From Patients With Primary Pulmonary Hypertension to Transforming Growth Factor-β <sub>1</sub> and Bone Morphogenetic Proteins

    Altered Growth Responses of Pulmonary Artery Smooth Muscle Cells From Patients With Primary Pulmonary Hypertension to Transforming Growth Factor-β <sub>1</sub> and Bone Morphogenet... by Nicholas W. Morrell, Xudong Yang, Paul D. Upton, Karen B. Jourdan, Neal Morgan, Karen Sheares, Richard C. Trembath

    Published 2001
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  11. 11
    Maternal uniparental disomy 7 in Silver-Russell syndrome.

    Maternal uniparental disomy 7 in Silver-Russell syndrome. by Michael A. Preece, Susan Price, V Davies, Louise E. Clough, Philip Stanier, Richard C. Trembath, Gudrun E. Moore

    Published 1997
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  12. 12
    BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH

    BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH by Talat Nasim, Takeshi Ogo, Hasnin M. Chowdhury, Lan Zhao, Chien-Nien Chen, Christopher J. Rhodes, Richard C. Trembath

    Published 2012
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  13. 13
    Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue

    Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue by Anastasia Sobolewski, Nung Rudarakanchana, Paul D. Upton, Jun Yang, Trina K. Crilley, Richard C. Trembath, Nicholas W. Morrell

    Published 2008
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  14. 14
    PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa)

    PSENEN and NCSTN Mutations in Familial Hidradenitis Suppurativa (Acne Inversa) by Andrew Pink, Michael A. Simpson, Glen Brice, Catherine Smith, Nemesha Desai, Peter Mortimer, Juliet N. Barker, Richard C. Trembath

    Published 2011
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  15. 15
    A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups

    A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups by Francesca Capon, Michael H. Allen, Mahreen Ameen, A. David Burden, David M. Tillman, Juliet N. Barker, Richard C. Trembath

    Published 2004
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  16. 16
    Genetics and precision genomics approaches to pulmonary hypertension

    Genetics and precision genomics approaches to pulmonary hypertension by Eric D. Austin, Micheala A. Aldred, Mona Alotaibi, Stefan Gräf, William C. Nichols, Richard C. Trembath, Wendy K. Chung

    Published 2024
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  17. 17
    Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E

    Missense Mutations in the Homeodomain of HOXD13 Are Associated with Brachydactyly Types D and E by David Johnson, Shih‐hsin Kan, Michael Oldridge, Richard C. Trembath, Philippe Roche, Robert Esnouf, Henk Giele, Andrew O.M. Wilkie

    Published 2003
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  18. 18
    Mutations in the γ-Secretase Genes NCSTN , PSENEN , and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa)

    Mutations in the γ-Secretase Genes NCSTN , PSENEN , and PSEN1 Underlie Rare Forms of Hidradenitis Suppurativa (Acne Inversa) by Andrew Pink, Michael A. Simpson, Nemesha Desai, Dimitra Dafou, Alison Hills, Peter Mortimer, Catherine Smith, Richard C. Trembath, Juliet N. Barker

    Published 2012
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  19. 19
    Mutations in Bone Morphogenetic Protein Type II Receptor Cause Dysregulation of Id Gene Expression in Pulmonary Artery Smooth Muscle Cells

    Mutations in Bone Morphogenetic Protein Type II Receptor Cause Dysregulation of Id Gene Expression in Pulmonary Artery Smooth Muscle Cells by Jun Yang, Rachel Davies, Mark Southwood, Lü Long, Xudong Yang, Anastasia Sobolewski, Paul D. Upton, Richard C. Trembath, Nicholas W. Morrell

    Published 2008
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  20. 20
    SUN1 Interacts with Nuclear Lamin A and Cytoplasmic Nesprins To Provide a Physical Connection between the Nuclear Lamina and the Cytoskeleton

    SUN1 Interacts with Nuclear Lamin A and Cytoplasmic Nesprins To Provide a Physical Connection between the Nuclear Lamina and the Cytoskeleton by Farhana Haque, David J. Lloyd, Dawn T. Smallwood, Carolyn L. Dent, Catherine M. Shanahan, Andrew M. Fry, Richard C. Trembath, Sue Shackleton

    Published 2006
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