R C Trembath

Summary

Affiliation: National Institute for Medical Research
Country: UK

Publications

  1. ncbi request reprint Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis
    R C Trembath
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 6:813-20. 1997
  2. ncbi request reprint Insights into the genetic and molecular basis of primary pulmonary hypertension
    Richard C Trembath
    Division of Medical Genetics, Department of Medicine, Leicester University, Leicester, LE1 7RH, UK
    Pediatr Res 53:883-8. 2003
  3. ncbi request reprint Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    R C Trembath
    Department of Medicine, University of Leicester, United Kingdom
    N Engl J Med 345:325-34. 2001
  4. pmc BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
    R D Machado
    Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Leicester, England LE1 7RH
    Am J Hum Genet 68:92-102. 2001
  5. pmc Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
    J R Thomson
    Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, UK
    J Med Genet 37:741-5. 2000
  6. pmc Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci
    C D Veal
    Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Adrian Building, Leicester LE1 7RH, UK
    J Med Genet 38:7-13. 2001
  7. ncbi request reprint Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins
    N W Morrell
    Department of Medicine, University of Cambridge, Addenbrooke s and Papworth Hospitals, Cambridge, United Kingdom
    Circulation 104:790-5. 2001
  8. pmc Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
    R E Harrison
    Division of Medical Genetics, University of Leicester, Leicester, UK
    J Med Genet 40:865-71. 2003
  9. ncbi request reprint A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium
    R D Machado
    Division of Medical Genetics, University of Leicester, Leicester, LE1 7RH, England
    Genomics 68:220-8. 2000
  10. pmc Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
    E Kinning
    Division of Medical Genetics, Department of Genetics and Cardiovascular Science, University of Leicester, Leicester, UK
    J Med Genet 42:e70. 2005

Detail Information

Publications66

  1. ncbi request reprint Identification of a major susceptibility locus on chromosome 6p and evidence for further disease loci revealed by a two stage genome-wide search in psoriasis
    R C Trembath
    Department of Genetics, University of Leicester, UK
    Hum Mol Genet 6:813-20. 1997
    ....
  2. ncbi request reprint Insights into the genetic and molecular basis of primary pulmonary hypertension
    Richard C Trembath
    Division of Medical Genetics, Department of Medicine, Leicester University, Leicester, LE1 7RH, UK
    Pediatr Res 53:883-8. 2003
    ..This review explores the significance of the PPH gene identification and examines additional genetic determinants, emphasizing the immediate implications for assessment and management of patients and their relatives...
  3. ncbi request reprint Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia
    R C Trembath
    Department of Medicine, University of Leicester, United Kingdom
    N Engl J Med 345:325-34. 2001
    ..Because patients with hereditary hemorrhagic telangiectasia may have lung disease that is indistinguishable from primary pulmonary hypertension, we investigated the genetic basis of lung disease in these patients...
  4. pmc BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
    R D Machado
    Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Leicester, England LE1 7RH
    Am J Hum Genet 68:92-102. 2001
    ....
  5. pmc Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
    J R Thomson
    Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, UK
    J Med Genet 37:741-5. 2000
    ..We have searched for BMPR2 gene mutations in sporadic PPH patients to determine whether the same genetic defect underlies the more common form of the disorder...
  6. pmc Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci
    C D Veal
    Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Adrian Building, Leicester LE1 7RH, UK
    J Med Genet 38:7-13. 2001
    ..This study has provided linkage evidence in favour of a novel susceptibility locus for psoriasis and provides evidence of the complex mechanisms underlying the genetic predisposition to this common skin disease...
  7. ncbi request reprint Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins
    N W Morrell
    Department of Medicine, University of Cambridge, Addenbrooke s and Papworth Hospitals, Cambridge, United Kingdom
    Circulation 104:790-5. 2001
    ..We postulated that pulmonary artery smooth muscle cells (PASMCs) from patients with PPH might demonstrate abnormal growth responses to TGF-beta superfamily members...
  8. pmc Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia
    R E Harrison
    Division of Medical Genetics, University of Leicester, Leicester, UK
    J Med Genet 40:865-71. 2003
    ..Heterozygous mutations of the type II receptor BMPR2 underlie familial primary pulmonary hypertension...
  9. ncbi request reprint A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium
    R D Machado
    Division of Medical Genetics, University of Leicester, Leicester, LE1 7RH, England
    Genomics 68:220-8. 2000
    ..8 Mb at 2q33. Numerous expressed sequence tags and known genes were placed on the YAC/BAC contig spanning the PPH1 gene critical region...
  10. pmc Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
    E Kinning
    Division of Medical Genetics, Department of Genetics and Cardiovascular Science, University of Leicester, Leicester, UK
    J Med Genet 42:e70. 2005
    ..Direct sequencing of genomic DNA has identified causative mutations in the gene Dymeclin (chromosome 18q12-21), with the majority predicting the generation of a truncated protein product...
  11. ncbi request reprint A genome-wide scan and HCRTR2 candidate gene analysis in a European cluster headache cohort
    L Baumber
    Division of Medical Genetics, University of Leicester, UK
    Neurology 66:1888-93. 2006
    ..To investigate the molecular genetic basis of cluster headache (CH), using a genome-wide scan and candidate gene strategy...
  12. ncbi request reprint Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension
    Rajiv D Machado
    Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, UK
    Circulation 111:607-13. 2005
    ..We hypothesized that in patients with germline mutations, BMPR2 might behave as a classic tumor suppressor gene, with somatic loss of the wild-type allele contributing to disease progression...
  13. ncbi request reprint Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing
    Micheala A Aldred
    Division of Medical Genetics, Adrian Building, University of Leicester, University Road, LE1 7RH, Leicester, UK
    Hum Genet 115:428-31. 2004
    ....
  14. ncbi request reprint Transforming growth factor-beta receptor mutations and pulmonary arterial hypertension in childhood
    Rachel E Harrison
    Division of Medical Genetics, University of Leicester, Leicester, UK
    Circulation 111:435-41. 2005
    ..Adult-onset disease has previously been associated with mutations in BMPR2 and ALK-1. Presentation in early life may be associated with congenital heart disease but frequently is idiopathic...
  15. ncbi request reprint Constitutional deletion of chromosome 20q in two patients affected with albright hereditary osteodystrophy
    Micheala A Aldred
    Division of Medical Genetics, University of Leicester, and Department of Molecular Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK
    Am J Med Genet 113:167-72. 2002
    ..Parental origin could be determined in both cases and provides further support for the parent-of-origin effect on the biochemical status of patients with AHO...
  16. pmc Primary pulmonary hypertension: the pressure rises for a gene
    J R Thomson
    Division of Medical Genetics, Adrian Building, University of Leicester, Leicester LE1 7RH, UK
    J Clin Pathol 53:899-903. 2000
    ....
  17. ncbi request reprint Evidence of an association between desmoglein 3 haplotypes and pemphigus vulgaris
    F Capon
    Department of Genetics and Cardiovascular Sciences, University Hospitals Leicester, Leicester, UK
    Br J Dermatol 154:67-71. 2006
    ..Although an association between PV and HLA class II alleles has been established, the genetic factors predisposing to the disease remain poorly understood, the rarity of PV hampering the recruitment of substantial patient cohorts...
  18. ncbi request reprint BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension
    Micheala A Aldred
    Division of Medical Genetics, Dept of Genetics, University of Leicester, Leicester, United Kingdom
    Hum Mutat 27:212-3. 2006
    ..Dosage analysis should now be considered an integral of part of the molecular work-up of PAH patients...
  19. ncbi request reprint Genetic association of the serotonin transporter in pulmonary arterial hypertension
    Rajiv D Machado
    Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, UK
    Am J Respir Crit Care Med 173:793-7. 2006
    ....
  20. pmc A dual-light reporter system to determine the efficiency of protein-protein interactions in mammalian cells
    M T Nasim
    Department of Genetics, University of Leicester, Leicester LE1 7RH, UK
    Nucleic Acids Res 33:e66. 2005
    ..This system has potential for high-throughput screening of libraries (peptide, chemical, cDNA, etc.) to isolate agents that are capable of interfering with highly selective protein-protein interaction...
  21. ncbi request reprint Does BMPR2 mutation disrupt pulmonary vasculogenesis?
    Trina K Jeffery
    Department of Medicine, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
    Chest 128:602S. 2005
  22. ncbi request reprint LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
    S Shackleton
    Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Leicester, UK
    Nat Genet 24:153-6. 2000
    ....
  23. ncbi request reprint An update on the genetics of psoriasis
    Francesca Capon
    Division of Medical Genetics, Department of Genetics and Cardiovascular Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
    Dermatol Clin 22:339-47, vii. 2004
    ....
  24. ncbi request reprint Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension
    Rajiv D Machado
    Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, United Kingdom
    Hum Mutat 27:121-32. 2006
    ....
  25. ncbi request reprint Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension
    Nung Rudarakanchana
    Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke s and Papworth Hospitals, Cambridge CB2 2QQ, UK
    Hum Mol Genet 11:1517-25. 2002
    ..However, all mutants studied demonstrate a gain of function involving upregulation of p38(MAPK)-dependent proproliferative pathways...
  26. ncbi request reprint Primary pulmonary hypertension is associated with reduced pulmonary vascular expression of type II bone morphogenetic protein receptor
    Carl Atkinson
    Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke s Hospital, Cambridge, UK
    Circulation 105:1672-8. 2002
    ..Mutations in the type II receptor for bone morphogenetic protein (BMPR-II), a receptor member of the transforming growth factor-beta (TGF-beta) superfamily, underlie many familial and sporadic cases of primary pulmonary hypertension (PPH)...
  27. ncbi request reprint Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension
    Xudong Yang
    Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke s Hospital, Cambridge, UK
    Circ Res 96:1053-63. 2005
    ..We conclude that defective Smad signaling and unopposed p38(MAPK)/ERK signaling, as a consequence of mutation in BMPR2, underlie the abnormal vascular cell proliferation observed in familial PAH...
  28. doi request reprint Elevated levels of inflammatory cytokines predict survival in idiopathic and familial pulmonary arterial hypertension
    Elaine Soon
    Department of Medicine, University of Cambridge, Cambridge, UK
    Circulation 122:920-7. 2010
    ..We sought to determine the levels of a range of cytokines in PAH and to examine their impact on survival and relationship to hemodynamic indexes...
  29. doi request reprint Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: implications for familial pulmonary arterial hypertension
    Jun Yang
    Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke s and Papworth Hospitals, Cambridge CB2 2QQ, United Kingdom
    Circ Res 102:1212-21. 2008
    ..The integration of these signals at the level of Id gene expression may contribute to the pathogenesis of familial pulmonary arterial hypertension...
  30. ncbi request reprint Serotonin increases susceptibility to pulmonary hypertension in BMPR2-deficient mice
    Lu Long
    Department of Medicine, University of Cambridge School of Clinical Medicine, Addenbrooke s and Papworth Hospitals, Cambridge, United Kingdom
    Circ Res 98:818-27. 2006
    ..These findings provide the first evidence for an interaction between BMPR-II-mediated signaling and the serotonin pathway, perturbation of which may be critical to the pathogenesis of PAH...
  31. ncbi request reprint BMP4 inhibits proliferation and promotes myocyte differentiation of lung fibroblasts via Smad1 and JNK pathways
    Trina K Jeffery
    Division of Respiratory Medicine, Department of Medicine, University of Cambridge, School of Clinical Medicine, Addenbrooke s Hospital, Cambridge, CB2 2QQ, UK
    Am J Physiol Lung Cell Mol Physiol 288:L370-8. 2005
    ....
  32. ncbi request reprint A synonymous SNP of the corneodesmosin gene leads to increased mRNA stability and demonstrates association with psoriasis across diverse ethnic groups
    Francesca Capon
    Department of Genetics, University of Leicester, Leicester LE1 7RH, UK
    Hum Mol Genet 13:2361-8. 2004
    ..These results demonstrate the effect of synonymous variation upon allele specific gene expression, a finding of relevance to future studies of the pathogenesis of common and complex traits...
  33. ncbi request reprint Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension
    Rajiv D Machado
    Division of Medical Genetics, University of Leicester, Leicester LE1 7RH, UK
    Hum Mol Genet 12:3277-86. 2003
    ..Taken together, these data demonstrate a discrete function for the cytoplasmic domain of BMPR-II and justify further investigation of whether the interaction with and phosphorylation of Tctex-1 contributes to the pathogenesis of PPH...
  34. pmc Family-based analysis using a dense single-nucleotide polymorphism-based map defines genetic variation at PSORS1, the major psoriasis-susceptibility locus
    Colin D Veal
    Division of Medical Genetics, University of Leicester, Leicester, LE1 7RH, United Kingdom
    Am J Hum Genet 71:554-64. 2002
    ..These data demonstrate the power of SNP haplotype-based association analyses and provide high-resolution dissection of genetic variation across the PSORS1 interval, the major susceptibility locus for psoriasis...
  35. ncbi request reprint Molecular analysis of the PDS gene in Pendred syndrome
    B Coyle
    Department of Genetics, University of Leicester, Leicester LE1 7RH, UK
    Hum Mol Genet 7:1105-12. 1998
    ....
  36. ncbi request reprint Characterization of the BMPR2 5'-untranslated region and a novel mutation in pulmonary hypertension
    Micheala A Aldred
    Division of Medical Genetics, Department of Genetics, University of Leicester, Leicester, United Kingdom
    Am J Respir Crit Care Med 176:819-24. 2007
    ..We hypothesized that the apparent shortfall is due to mutations located in the promoter region of the gene, resulting in abnormal gene regulation...
  37. doi request reprint Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue
    Anastasia Sobolewski
    Department of Medicine, University of Cambridge School of Clinical Medicine, Box 157, Addenbrooke s Hospital, Hills Road, Cambridge, Cambridgeshire CB2 2QQ, UK
    Hum Mol Genet 17:3180-90. 2008
    ..We conclude that enhancement of cell-surface trafficking of mutant and wild-type BMPR-II may have therapeutic potential in familial PAH...
  38. 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...
  39. ncbi request reprint The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
    Ursula M Smith
    Section of Medical and Molecular Genetics, Division of Reproductive and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK
    Nat Genet 38:191-6. 2006
    ..It encodes a 995-amino acid seven-transmembrane receptor protein of unknown function that we have called meckelin...
  40. ncbi request reprint Genetic analysis of PSORS1 distinguishes guttate psoriasis and palmoplantar pustulosis
    Kati Asumalahti
    Department of Medical Genetics, University of Helsinki, Finland
    J Invest Dermatol 120:627-32. 2003
    ..Our results show conclusively that psoriasis vulgaris and guttate psoriasis have a similar genetic basis for their association to PSORS1, whereas palmoplantar pustulosis appears to be a distinct disorder...
  41. pmc Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
    Patrick Tarpey
    Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nat Genet 38:1242-4. 2006
    ..We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability...
  42. ncbi request reprint The major psoriasis susceptibility locus PSORS1 is not a risk factor for late-onset psoriasis
    Michael Hugh Allen
    St John s Institute of Dermatology, Kings College London, London, UK
    J Invest Dermatol 124:103-6. 2005
    ..These data suggest that the exclusion of LOP subjects from case-control studies will aid further delineation of the PSORS1 locus. Future genome-wide studies will be required to identify loci conferring risk for late-onset disease...
  43. ncbi request reprint An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 44:2178-83. 2003
    ..To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus...
  44. ncbi request reprint Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations
    Sai Prasad
    Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Am J Med Genet A 124:1-9. 2004
    ..We found DHPLC as accurate and reliable as direct sequencing but to be more rapid and cost effective. In addition, we report 11 novel disease-causing allele variants of SLC26A4...
  45. ncbi request reprint Genetic basis of pulmonary arterial hypertension: current understanding and future directions
    John H Newman
    Vanderbilt University School of Medicine, Nashville, Tennessee, United Kingdom
    J Am Coll Cardiol 43:33S-39S. 2004
    ..Advances in genetic testing, presymptomatic screening, and biomarkers should permit early detection of disease in those at risk of PAH and allow trials of preventive therapy in carriers...
  46. pmc Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome
    Nicholas C M Hearle
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, UK
    BMC Genomics 6:38. 2005
    ..It is conceivable that, on the basis of data from other diseases, inherited variation in promoter elements of STK11/LKB1 may cause PJS...
  47. ncbi request reprint Meta-analysis of genome-wide studies of psoriasis susceptibility reveals linkage to chromosomes 6p21 and 4q28-q31 in Caucasian and Chinese Hans population
    Gurdeep S Sagoo
    Biomedical Genetics Project, Division of Genomic Medicine, University of Sheffield, Royal Hallamshire Hospital, Sheffield, UK
    J Invest Dermatol 122:1401-5. 2004
    ..To overcome this problem, we suggest that future studies condition on the effect of the PSORS1 locus...
  48. ncbi request reprint Identification of a fourth locus (EVR4) for familial exudative vitreoretinopathy (FEVR)
    Carmel Toomes
    Molecular Medicine Unit, University of Leeds, St James s University Hospital, Leeds, UK
    Mol Vis 10:37-42. 2004
    ..The purpose of this study was to screen FZD4 in a large family previously proven to be linked to the EVR1 locus...
  49. ncbi request reprint BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension
    Marja Sankelo
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mutat 26:119-24. 2005
    ..Hum Mutat 26(2), 1-6, 2005. (c) 2005 Wiley-Liss, Inc...
  50. doi request reprint Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    Anita Rauch
    Institute of Human Genetics, University Hospital Erlangen, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
    Science 319:816-9. 2008
    ..Absence of PCNT results in disorganized mitotic spindles and missegregation of chromosomes. Mutations in related genes are known to cause primary microcephaly (MCPH1, CDK5RAP2, ASPM, and CENPJ)...
  51. ncbi request reprint Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema
    Sara J Brown
    J Invest Dermatol 128:1591-4. 2008
  52. doi request reprint Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension
    M Talat Nasim
    Department of Medical and Molecular Genetics, King s College London, Guy s Hospital, London SE1 9RT, UK
    Hum Mol Genet 17:1683-94. 2008
    ..Taken together, these studies have identified an important target for early therapeutic intervention in familial PAH...
  53. pmc Genetic association analysis using data from triads and unrelated subjects
    Michael P Epstein
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 76:592-608. 2005
    ..Our approach also allows for flexible modeling and estimation of allele effects, as well as for missing parental data. We illustrate the usefulness of our approach using SNP data from a candidate-gene study of psoriasis...
  54. ncbi request reprint A strategy for translation
    Graham M Lord
    NIHR Comprehensive Biomedical Research Centre, Guy s and St Thomas Hospital NHS Foundation Trust and King s College London, SE1 9RT, UK
    Lancet 369:1771-3. 2007
  55. ncbi request reprint Filaggrin null alleles are not associated with psoriasis
    Yiwei Zhao
    Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
    J Invest Dermatol 127:1878-82. 2007
    ..These data suggest that FLG mutations are unlikely to be involved in genetic susceptibility to psoriasis and implies that there may be within-locus heterogeneity in chromosomal regions involved in both AD and psoriasis...
  56. pmc Demographic features, BMPR2 status and outcomes in distal chronic thromboembolic pulmonary hypertension
    Jay Suntharalingam
    Pulmonary Vascular Diseases Unit, Papworth Hospital NHS Trust, Papworth Everard, Cambridgeshire CB3 8RE, UK
    Thorax 62:617-22. 2007
    ..The aetiology and characteristics of this patient group are currently not well understood...
  57. ncbi request reprint Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations
    Tim Forshew
    Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK
    Hum Genet 117:452-9. 2005
    ..These findings confirm that mutations in HSF4 may result in both autosomal dominant and autosomal recessive congenital cataract, and highlight the locus heterogeneity in autosomal recessive congenital cataract...
  58. pmc A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)
    Neil V Morgan
    Section of Medical and Molecular Genetics, Division of Medical Sciences, Institute of Biomedical Research, University of Birmingham, United Kingdom
    Am J Hum Genet 78:160-6. 2006
    ..These findings define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS...
  59. pmc Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E
    David Johnson
    Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, and Department of Plastic and Reconstructive Surgery, Radcliffe Infirmary, Oxford, United Kingdom
    Am J Hum Genet 72:984-97. 2003
    ..Molecular modeling of the Ile314Leu mutation indicates that this mixed gain and loss of affinity may be accounted for by the relative positions of methyl groups in the amino acid side chain and target base...
  60. ncbi request reprint Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome
    Vincent El Ghouzzi
    Department of Medical Genetics and INSERM U393, Hopital Necker Enfants Malades, 75015 Paris, France
    Hum Mol Genet 12:357-64. 2003
    ..We conclude that DMC syndrome is consequent upon loss of function of a gene that we propose to name Dymeclin, which may have a role in process of intracellular digestion of proteins...
  61. ncbi request reprint A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24
    Neil V Morgan
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham, B15 2TT, UK
    Hum Genet 111:456-61. 2002
    ..Comparison of the clinical features of MKS3-linked cases with reports of MKS1- and MKS2-linked kindreds suggests that polydactyly (and possibly encephalocele) appear less common in MKS3-linked families...
  62. pmc Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome
    Irene A Aligianis
    Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, United Kingdom
    Am J Hum Genet 78:702-7. 2006
    ..However, we did not detect RAB3GAP2 mutations in patients with Warburg micro syndrome. These findings suggest that RAB3GAP dysregulation may result in a spectrum of phenotypes that range from Warburg micro syndrome to Martsolf syndrome...
  63. pmc Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome
    Neil V Morgan
    Section of Medical and Molecular Genetics, University of Birmingham, Institute of Biomedical Research, Edgbaston, Birmingham, B15 2TT, UK
    Am J Hum Genet 79:390-5. 2006
    ..These findings extend the role of acetylcholine receptor dysfunction in human disease and provide new insights into the pathogenesis and management of fetal akinesia syndromes...
  64. ncbi request reprint Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood
    Jonathan N W N Barker
    St John s Institute of Dermatology, King s College London, St Thomas s Hospital, London, UK
    J Invest Dermatol 127:564-7. 2007
    ..This study helps to further define the nature of the AD phenotype associated with FLG null alleles...
  65. ncbi request reprint Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10
    Dominic R A White
    Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK
    Eur J Hum Genet 15:173-8. 2007
    ....
  66. ncbi request reprint Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis
    Francesca Capon
    Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King s College, London, UK
    Hum Genet 122:201-6. 2007
    ..0001) and rs3212227 (P = 0.036). Altogether, these findings indicate that genes participating in IL23 signalling play a significant role in the pathogenesis of chronic epithelial inflammation...