Richard C Trembath

Summary

Affiliation: King's College London
Country: UK

Publications

  1. pmc A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease
    Neil V Morgan
    Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine, University of Birmingham School of Medicine, Birmingham, UK
    Orphanet J Rare Dis 8:74. 2013
  2. pmc Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish
    Laura Southgate
    Department of Medical and Molecular Genetics, King s College London, School of Medicine, Floor 8 Tower Wing, Guy s Hospital, London, SE1 9RT, UK
    Neurogenetics 11:379-89. 2010
  3. ncbi request reprint The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
    Katie M G Snape
    Guy s and St Thomas NHS Hospital Trust Kings College London, NIHR Biomedical Research Centre, UK
    Am J Med Genet A 149:1860-81. 2009
  4. pmc An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element
    Alex Clop
    Division of Genetics and Molecular Medicine, King s College London, London, United Kingdom
    PLoS ONE 8:e71690. 2013
  5. pmc Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis
    Marie Jose Bijlmakers
    Division of Immunology, Infection and Inflammatory Disease, King s College London, School of Medicine at Guy s, King s College and St Thomas Hospitals, London SE1 9RT, UK
    Hum Mol Genet 20:3129-37. 2011
  6. pmc A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
    Mol Genet Metab 99:325-8. 2010
  7. pmc Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK
    Am J Hum Genet 86:471-8. 2010
  8. pmc Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
    Laura Southgate
    Department of Medical and Molecular Genetics, King s College London, School of Medicine, Guy s Hospital, London, London, UK
    Am J Hum Genet 88:574-85. 2011
  9. doi request reprint Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    Pia Ostergaard
    Medical Genetics Unit, Biomedical Sciences, St George s University of London, London, UK
    Nat Genet 43:929-31. 2011
  10. pmc Psoriasis and other complex trait dermatoses: from Loci to functional pathways
    Francesca Capon
    Division of Genetics and Molecular Medicine, King s College London, London, UK
    J Invest Dermatol 132:915-22. 2012

Collaborators

Detail Information

Publications23

  1. pmc A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease
    Neil V Morgan
    Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine, University of Birmingham School of Medicine, Birmingham, UK
    Orphanet J Rare Dis 8:74. 2013
    ..Although the initial 2 affected cousins died in the first year of life, accurate diagnosis and management of the youngest patient led to successful treatment of the liver disease and disease-free survival...
  2. pmc Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish
    Laura Southgate
    Department of Medical and Molecular Genetics, King s College London, School of Medicine, Floor 8 Tower Wing, Guy s Hospital, London, SE1 9RT, UK
    Neurogenetics 11:379-89. 2010
    ..This study represents the first investigation in zebrafish addressing the function of a causative gene in autosomal recessive HSP and identifies a critical role for spatacsin during early neural development in vivo...
  3. ncbi request reprint The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects
    Katie M G Snape
    Guy s and St Thomas NHS Hospital Trust Kings College London, NIHR Biomedical Research Centre, UK
    Am J Med Genet A 149:1860-81. 2009
    ..Taken in combination with a detailed review of the available literature, we provide evidence for distinct clinical entities within the ACC/TTLD spectrum, which may reflect genetic heterogeneity within this spectrum of disorders...
  4. pmc An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element
    Alex Clop
    Division of Genetics and Molecular Medicine, King s College London, London, United Kingdom
    PLoS ONE 8:e71690. 2013
    ....
  5. pmc Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis
    Marie Jose Bijlmakers
    Division of Immunology, Infection and Inflammatory Disease, King s College London, School of Medicine at Guy s, King s College and St Thomas Hospitals, London SE1 9RT, UK
    Hum Mol Genet 20:3129-37. 2011
    ..Thus, our data point to a novel pathogenic pathway, where dysregulation of RIG-I/MDA5 signalling leads to the over-production of type I IFN, a key early mediator of epithelial inflammation...
  6. pmc A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham B15 2TT, UK
    Mol Genet Metab 99:325-8. 2010
    ..194dupG) at a mononucleotide repeat in exon 1 predicted to result in a truncated protein (p.Cys66LeufsX99). This report extends current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum...
  7. pmc Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, B15 2TT, UK
    Am J Hum Genet 86:471-8. 2010
    ..This is the first gene to be associated with Fowler syndrome, and this finding provides a basis for further studies to elucidate the pathogenetic mechanisms and phenotypic spectrum of associated disorders...
  8. pmc Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies
    Laura Southgate
    Department of Medical and Molecular Genetics, King s College London, School of Medicine, Guy s Hospital, London, London, UK
    Am J Hum Genet 88:574-85. 2011
    ..These data identify the requirement for regulated Cdc42 and/or Rac1 signaling processes during early human development...
  9. doi request reprint Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    Pia Ostergaard
    Medical Genetics Unit, Biomedical Sciences, St George s University of London, London, UK
    Nat Genet 43:929-31. 2011
    ..Our findings indicate that haploinsufficiency of GATA2 underlies primary lymphedema and predisposes to acute myeloid leukemia in this syndrome...
  10. pmc Psoriasis and other complex trait dermatoses: from Loci to functional pathways
    Francesca Capon
    Division of Genetics and Molecular Medicine, King s College London, London, UK
    J Invest Dermatol 132:915-22. 2012
    ....
  11. doi request reprint Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development
    Celine Denais
    King s College London, Department of Medical and Molecular Genetics, School of Medicine, Guy s Hospital, London, United Kingdom
    Hum Mutat 32:231-9. 2011
    ..Together these data identify the role of Dymeclin in secretory pathways essential to endochondral bone formation during early development...
  12. ncbi request reprint AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking
    Niovi Setta-Kaffetzi
    Division of Genetics and Molecular Medicine, King s College London, London SE1 9RT, UK
    Am J Hum Genet 94:790-7. 2014
    ..These findings identify pustular psoriasis as an autoinflammatory phenotype caused by defects in vesicular trafficking and demonstrate a requirement of AP-1 for Toll-like receptor homeostasis. ..
  13. pmc Allele-specific cytokine responses at the HLA-C locus: implications for psoriasis
    Christian Hundhausen
    St John s Institute of Dermatology, King s College London, Guy s Hospital, London, UK
    J Invest Dermatol 132:635-41. 2012
    ..These data pave the way for functional studies into the pathogenic role of the major psoriasis susceptibility allele...
  14. pmc De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome
    Michael A Simpson
    Division of Genetics and Molecular Medicine, King s College London School of Medicine, Guy s Hospital, UK
    Am J Hum Genet 90:290-4. 2012
    ..These findings define the genetic basis of GPS and illustrate the complex role of the regulation of histone acetylation during development...
  15. doi request reprint BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH
    Md Talat Nasim
    Department of Medical and Molecular Genetics, King s College London, London, UK
    Hum Mol Genet 21:2548-58. 2012
    ..Taken together, these data suggest dysfunctional BMPR-II responsiveness intensifies TGFβ-TAK1-MAPK signalling and thus alters the ratio of apoptosis to proliferation. This axis may be a potential therapeutic target in PAH...
  16. doi request reprint Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension
    Md Talat Nasim
    Department of Medical and Molecular Genetics, King s College London, School of Medicine, Guy s Hospital, London, UK
    Hum Mutat 32:1385-9. 2011
    ..These results demonstrate the role of BMPR2 mutation in the pathogenesis of PAH and indicate that variation within the SMAD family represents an infrequent cause of the disease...
  17. pmc Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease
    Reza Sharifi
    Biomedical Sciences Division, Human Genetics Research Centre, St George s University of London, London, UK
    EMBO J 32:1225-37. 2013
    ..Collectively, our data suggest that C6orf130 enzymatic activity has a role in the turnover and recycling of protein ADP-ribosylation, and we have implicated the importance of this protein in supporting normal cellular function in humans...
  18. doi request reprint Inhibition of overactive transforming growth factor-β signaling by prostacyclin analogs in pulmonary arterial hypertension
    Takeshi Ogo
    Department of Medical and Molecular Genetics, School of Medicine, King s College London, London, United Kingdom
    Am J Respir Cell Mol Biol 48:733-41. 2013
    ..Taken together, these data suggest that prostacyclin analogs inhibit dysregulated TGF-β signaling in vitro and in vivo, and reduce BMPR-II-mediated proliferation defects in mutant mice PASMCs...
  19. pmc Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
    Alexandros Onoufriadis
    Division of Genetics and Molecular Medicine, King s College London School of Medicine, Guy s Hospital, UK
    Am J Hum Genet 89:432-7. 2011
    ....
  20. doi request reprint γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis
    Andrew E Pink
    Division of Genetics and Molecular Medicine, King s College London School of Medicine, King s College London, London, UK
    J Invest Dermatol 133:601-7. 2013
    ..In this article, we review the recent genetic data, how they inform disease pathogenesis, and the long-term implications in HS and related diseases...
  21. doi request reprint Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
    Michael A Simpson
    Division of Genetics and Molecular Medicine, King s College London School of Medicine, Guy s Hospital, London, UK
    Nat Genet 43:303-5. 2011
    ....
  22. pmc Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
    Esther Meyer
    Department of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Mol Vis 15:1014-9. 2009
    ..To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a consanguineous family with four affected children...
  23. pmc Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene
    Francesca Capon
    Division of Genetics and Molecular Medicine, Infection and Inflammatory Disease, King s College London, London, UK
    Hum Mol Genet 17:1938-45. 2008
    ..These findings collectively identify a novel psoriasis susceptibility gene, with a putative role in the regulation of immune responses...