C G Mathew

Summary

Affiliation: King's College London
Country: UK

Publications

  1. pmc Cancer incidence in relatives of British Fanconi Anaemia patients
    Marc Tischkowitz
    Cancer Genetics Program, Departments of Human Genetics and Oncology, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    BMC Cancer 8:257. 2008
  2. ncbi request reprint New links to the pathogenesis of Crohn disease provided by genome-wide association scans
    Christopher G Mathew
    Division of Genetics and Molecular Medicine, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Nat Rev Genet 9:9-14. 2008
  3. ncbi request reprint Fanconi anaemia genes and susceptibility to cancer
    C G Mathew
    King s College London School of Medicine, Division of Genetics and Molecular Medicine, Guy s Hospital, London, UK
    Oncogene 25:5875-84. 2006
  4. ncbi request reprint Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31
    C Onnie
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
    Genes Immun 7:359-65. 2006
  5. ncbi request reprint Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway
    A L Medhurst
    Division of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, 8th Floor, Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Hum Mol Genet 10:423-9. 2001
  6. ncbi request reprint A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population
    N J Prescott
    Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, GKT School of Medicine, King s College London, London, UK
    Tissue Antigens 66:318-20. 2005
  7. ncbi request reprint Genetic variation at the chromosome 16 chemokine gene cluster: development of a strategy for association studies in complex disease
    S A Fisher
    Division of Genetics and Development, Guy s, King s and St Thomas School of Medicine, London, UK
    Ann Hum Genet 67:377-90. 2003
  8. pmc Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa
    A J Tipping
    Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London Bridge, London SE1 9RT, United Kingdom
    Proc Natl Acad Sci U S A 98:5734-9. 2001
  9. ncbi request reprint Sequence variants of the estrogen receptor (ER) gene found in breast cancer patients with ER negative and progesterone receptor positive tumors
    H Iwase
    Imperial Cancer Research Fund, Clinical Oncology Unit, Guy s Hospital, London, UK
    Cancer Lett 108:179-84. 1996
  10. pmc Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease
    C M Lewis
    Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King s College London School of Medicine, London, UK
    J Med Genet 44:689-94. 2007

Detail Information

Publications72

  1. pmc Cancer incidence in relatives of British Fanconi Anaemia patients
    Marc Tischkowitz
    Cancer Genetics Program, Departments of Human Genetics and Oncology, Sir M B Davis Jewish General Hospital, McGill University, Montreal, Quebec, Canada
    BMC Cancer 8:257. 2008
    ....
  2. ncbi request reprint New links to the pathogenesis of Crohn disease provided by genome-wide association scans
    Christopher G Mathew
    Division of Genetics and Molecular Medicine, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Nat Rev Genet 9:9-14. 2008
    ..The results so far suggest that genome scans may re-define our ideas on the nature of causal variants in complex disease...
  3. ncbi request reprint Fanconi anaemia genes and susceptibility to cancer
    C G Mathew
    King s College London School of Medicine, Division of Genetics and Molecular Medicine, Guy s Hospital, London, UK
    Oncogene 25:5875-84. 2006
    ..Inhibition of this pathway represents a possible route to sensitization of tumours to DNA crosslinking drugs such as cisplatin...
  4. ncbi request reprint Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31
    C Onnie
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
    Genes Immun 7:359-65. 2006
    ..Other as yet undiscovered SNPs in this region may therefore modulate gene expression and contribute to the risk of CD, and perhaps of other inflammatory phenotypes...
  5. ncbi request reprint Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway
    A L Medhurst
    Division of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, 8th Floor, Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Hum Mol Genet 10:423-9. 2001
    ..These proteins may act either as a multimeric complex or by sequential recruitment of subsets of the proteins in a common pathway that protects the genomic integrity of mammalian cells...
  6. ncbi request reprint A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population
    N J Prescott
    Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, GKT School of Medicine, King s College London, London, UK
    Tissue Antigens 66:318-20. 2005
    ..No significant differences in genotype or allele frequencies were observed between IBD, CD or UC and controls, indicating that PTPN22 does not influence risk of IBD...
  7. ncbi request reprint Genetic variation at the chromosome 16 chemokine gene cluster: development of a strategy for association studies in complex disease
    S A Fisher
    Division of Genetics and Development, Guy s, King s and St Thomas School of Medicine, London, UK
    Ann Hum Genet 67:377-90. 2003
    ..We describe an efficient experimental design from SNP screening to association testing. This strategy can be used to test candidate genes for involvement in susceptibility to complex disease...
  8. pmc Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa
    A J Tipping
    Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London Bridge, London SE1 9RT, United Kingdom
    Proc Natl Acad Sci U S A 98:5734-9. 2001
    ..The molecular and genealogical evidence is consistent with transmission of the major mutation to Western Germany and the Cape near the end of the 17th century, confirming the existence of a founder effect for FA in South Africa...
  9. ncbi request reprint Sequence variants of the estrogen receptor (ER) gene found in breast cancer patients with ER negative and progesterone receptor positive tumors
    H Iwase
    Imperial Cancer Research Fund, Clinical Oncology Unit, Guy s Hospital, London, UK
    Cancer Lett 108:179-84. 1996
    ..Although the frequency of these polymorphic sites was not correlated with hormone receptor status, the variant in codon 325 tended to be seen more frequently in breast cancer patients than in non-cancer control cases (P = 0.057)...
  10. pmc Estimating risks of common complex diseases across genetic and environmental factors: the example of Crohn disease
    C M Lewis
    Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King s College London School of Medicine, London, UK
    J Med Genet 44:689-94. 2007
    ..Progress has been made in identifying mutations that confer susceptibility to complex diseases, with the prospect that these genetic risks might be used in determining individual disease risk...
  11. pmc Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions
    A Catteau
    Division of Medical and Molecular Genetics, UMDS, Guy s Hospital, London, UK
    Br J Cancer 79:759-63. 1999
    ..Furthermore, it suggests that mutations within the BRCA1 promoter are unlikely to account for the reported decreased expression of BRCA1 in sporadic disease...
  12. ncbi request reprint A Crohn's disease-associated insertion polymorphism (3020insC) in the NOD2 gene is not associated with psoriasis vulgaris, palmo-plantar pustular psoriasis or guttate psoriasis
    C Young
    St John s Institute of Dermatology, Guy s, Kings and St Thomas School of Medicine, London, UK
    Exp Dermatol 12:506-9. 2003
    ..However, other mutations exist in the NOD2 gene, which may potentially have a role in psoriasis susceptibility...
  13. ncbi request reprint SNP subset selection for genetic association studies
    M C Byng
    Division of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, London, UK
    Ann Hum Genet 67:543-56. 2003
    ..These methods are illustrated using eleven SNPs in the MMP2 gene...
  14. ncbi request reprint Deletion and reduced expression of the Fanconi anemia FANCA gene in sporadic acute myeloid leukemia
    M D Tischkowitz
    Department of Medical and Molecular Genetics, Division of Genetics and Development Guy s, King s and St Thomas School of Medicine, King s College London, Guy s Hospital, London, UK
    Leukemia 18:420-5. 2004
    ..These findings suggest that gene deletions and reduced expression of FANCA may be involved in the promotion of genetic instability in a subset of cases of sporadic AML...
  15. ncbi request reprint Investigation of Fanconi anemia protein interactions by yeast two-hybrid analysis
    P A Huber
    Division of Medical Genetics, Guy s, King s and St Thomas School of Medicine, Guy s Hospital, 7th Floor, Guy s Tower, London, SE1 9RT, United Kingdom
    Biochem Biophys Res Commun 268:73-7. 2000
    ..Although both N- and C-terminal fragments did interact, binding to FANCA was drastically reduced, suggesting that more than one region of the FANCG protein is required for proper interaction with FANCA...
  16. ncbi request reprint Genetic variation in the IGSF6 gene and lack of association with inflammatory bowel disease
    K King
    Department of Medical and Molecular Genetics, Division of Genetics and Development, Guy s, King s and St Thomas School of Medicine, King s College London, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Eur J Immunogenet 30:187-90. 2003
    ..The novel SNPs and the linkage disequilibrium map will be a useful resource for the analysis of IGSF6 in other immune disorders...
  17. ncbi request reprint Investigation of association of the DLG5 gene with phenotypes of inflammatory bowel disease in the British population
    Alexandra V Pearce
    Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Int J Colorectal Dis 22:419-24. 2007
    ....
  18. pmc Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease
    Sheila A Fisher
    Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Nat Genet 40:710-2. 2008
    ..These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases...
  19. pmc Genetic evidence for interaction of the 5q31 cytokine locus and the CARD15 gene in Crohn disease
    Muddassar M Mirza
    Division of Medical and Molecular Genetics, Guy s, King s, and Thomas s School of Medicine, King s College London, Guy s Hospital, London, United Kingdom
    Am J Hum Genet 72:1018-22. 2003
    ..0019). These findings suggest that genetic variants at the 5q31 (IBD5) locus may hasten the onset of Crohn disease and cooperate with CARD15 in disease causation...
  20. ncbi request reprint Development of rheumatoid arthritis is not associated with two polymorphisms in the Crohn's disease gene CARD15
    S Steer
    Molecular Immunogenetics, Department of Rheumatology, Division of Medicine, Guy s, King s and St Thomas School of Medicine, Guy s Hospital Campus, King s College, London, UK
    Rheumatology (Oxford) 42:304-7. 2003
    ..Recently, common variation in the CARD15 (NOD2) gene on chromosome 16q12 has been associated with Crohn's disease (CD) in several independent populations. CARD15 is an excellent functional and positional candidate gene for RA...
  21. ncbi request reprint Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis
    N V Whittock
    Department of Cell and Molecular Pathology, St John s Institute of Dermatology, St Thomas Hospitals Medical School, London, UK
    J Invest Dermatol 113:673-86. 1999
    ....
  22. pmc Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease
    Natalie J Prescott
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London SE1 9RT, UK
    Hum Mol Genet 19:1828-39. 2010
    ....
  23. ncbi request reprint Genetics of inflammatory bowel disease: progress and prospects
    Christopher G Mathew
    Division of Genetics and Development, Guy s King s and St Thomas School of Medicine, King s College London, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
    Hum Mol Genet 13:R161-8. 2004
    ..Although important obstacles to further progress will need to be overcome, the successes of the past 2 years suggest that a detailed description of the genetic basis of inflammatory bowel disease is a realistic goal...
  24. pmc Trial Protocol: Communicating DNA-based risk assessments for Crohn's disease: a randomised controlled trial assessing impact upon stopping smoking
    Sophia C L Whitwell
    Health Psychology Section, Department of Psychology, King s College London, Guy s Campus, London, UK
    BMC Public Health 11:44. 2011
    ....
  25. ncbi request reprint A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn's disease and is independent of CARD15 and IBD5
    Natalie J Prescott
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
    Gastroenterology 132:1665-71. 2007
    ..We investigated this association in independent U.K. cohorts of Crohn's disease and ulcerative colitis...
  26. ncbi request reprint Sex stratification of an inflammatory bowel disease genome search shows male-specific linkage to the HLA region of chromosome 6
    Sheila A Fisher
    Division of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, UK
    Eur J Hum Genet 10:259-65. 2002
    ..The existence of sex-specific linkage is further evidence of the complex mechanisms involved in IBD and will facilitate future studies to identify susceptibility genes...
  27. pmc Clinical, cytogenetic, and molecular analysis of three families with FRAXE
    A J Barnicoat
    Department of Medical and Molecular Genetics, Guy s Hospital, London, UK
    J Med Genet 34:13-7. 1997
    ..All the males who expressed FRAXE had a large methylated CCG repeat at FRAXF. All males with the mutation had some degree of mental handicap. This study illustrates the need for the FRAXE phenotype to be defined further...
  28. pmc Loss of heterozygosity of the oestrogen receptor gene in breast cancer
    H Iwase
    Imperial Cancer Research Fund ICRF, Guy s Hospital, London, UK
    Br J Cancer 71:448-50. 1995
    ..LOH correlated weakly with histological grade and age, but not with ER status. This result suggests that LOH of the ER gene does not have an important role in the lack of ER function in breast cancer tissues...
  29. pmc Evidence of linkage of the inflammatory bowel disease susceptibility locus on chromosome 16 (IBD1) to ulcerative colitis
    M M Mirza
    Division of Medical and Molecular Genetics, UMDS, Guy s Hospital, London, UK
    J Med Genet 35:218-21. 1998
    ..2). The data suggest that IBD1 may also contribute to susceptibility to ulcerative colitis, and that it is likely to be located in the 12 cM interval between D16S419 and D16S409...
  30. ncbi request reprint Direct or indirect association in a complex disease: the role of SLC22A4 and SLC22A5 functional variants in Crohn disease
    Sheila A Fisher
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, United Kingdom
    Hum Mutat 27:778-85. 2006
    ....
  31. ncbi request reprint Novel mutations and polymorphisms in the Fanconi anemia group C gene
    R A Gibson
    Division of Medical and Molecular Genetics UMDS, Guy s Hospital, London, UK
    Hum Mutat 8:140-8. 1996
    ..This study indicates that the proportion of FA patients from complementation group C is generally likely to be less than 10%. Guidelines for the selection of FA patients for FAC mutation screening are proposed...
  32. ncbi request reprint Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR
    R A Gibson
    Division of Medical and Molecular Genetics UMDS, Guy s Hospital, London, UK
    Hum Mol Genet 2:35-8. 1993
    ..Characterisation of splice site mutations in Fanconi anaemia patients with abnormal FACC transcripts and screening of large numbers of patients for mutations by amplification of the coding sequence from genomic DNA will now be possible...
  33. ncbi request reprint Diverse effects of the CARD15 and IBD5 loci on clinical phenotype in 630 patients with Crohn's disease
    Clive M Onnie
    Division of Genetics and Molecular Medicine, King s College London School of Medicine, Guy s Hospital, London, UK
    Eur J Gastroenterol Hepatol 20:37-45. 2008
    ..We studied 630 well-characterized patients to clarify the genotype/phenotype relationship in CD...
  34. ncbi request reprint Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach
    H Hanson
    Division of Medical and Molecular Genetics, Guy's, King's and St Thomas' School of Medicine, London, UK
    Cytogenet Cell Genet 93:203-6. 2001
    ..In 12 out of the 16 patients, decrease in telomere signal intensity could also be detected using a Q-FISH approach...
  35. pmc High frequency of large intragenic deletions in the Fanconi anemia group A gene
    N V Morgan
    Division of Medical and Molecular Genetics, GKT School of Medicine, Guy s Hospital, London, United Kingdom
    Am J Hum Genet 65:1330-41. 1999
    ..The dual screening strategy that we describe may be useful for mutation screening in other genetic disorders in which mutation-detection rates are unexpectedly low...
  36. ncbi request reprint Recruiting first-degree relatives for prevention research: a comparison of clinician and proband-led methods of contact in Crohn's disease
    Erin P Reid
    Department of Psychology, Health Psychology Section, Institute of Psychiatry, King s College London, London, UK
    Eur J Hum Genet 14:1263-8. 2006
    ..High levels of interest in research across the two recruitment methods suggest that although proband-led methods may maximise privacy, they may deny relatives the opportunity to take part in research that would be of interest...
  37. doi request reprint Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation
    Richard D Bagnall
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
    Eur J Hum Genet 16:619-25. 2008
    ..The multiple isoforms and differing consequences for a predicted stop codon polymorphism underline the importance of detailed analysis of the effects of proposed functional variants on gene expression...
  38. ncbi request reprint Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease
    David A van Heel
    Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, London, UK
    Inflamm Bowel Dis 12:598-605. 2006
    ..Rare NOD2 variants occur, but it is difficult to both identify them and assess their functional effect. We assessed the true frequency of defective muramyl dipeptide sensing in Crohn's disease and developed a rapid diagnostic assay...
  39. ncbi request reprint Associations of allelic variants of the multidrug resistance gene (ABCB1 or MDR1) and inflammatory bowel disease and their effects on disease behavior: a case-control and meta-analysis study
    Clive M Onnie
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, UK
    Inflamm Bowel Dis 12:263-71. 2006
    ....
  40. ncbi request reprint Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene
    Kathy King
    Department of Medical and Molecular Genetics, King s College London School of Medicine, Guy s Hospital, London, UK
    Genomics 90:493-501. 2007
    ..We show that there is no significant association between variants in the novel NOD2 promoter region and CD...
  41. ncbi request reprint A common Fanconi anemia mutation in black populations of sub-Saharan Africa
    Neil V Morgan
    Department of Medical and Molecular Genetics, Guy s Hospital, 8th Floor, Guy s Tower, London SE1 9RT, United Kingdom
    Blood 105:3542-4. 2005
    ..Diagnostic screening is now possible by means of a simple DNA test...
  42. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  43. pmc IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease
    Mark Tremelling
    IBD Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge, England, UK
    Gastroenterology 132:1657-64. 2007
    ..We tested for association between IL23R and IBD in a large independent UK panel to determine the size of the effect and explore subphenotype correlation and interaction with CARD15...
  44. ncbi request reprint Genetic variation in DLG5 is associated with inflammatory bowel disease
    Monika Stoll
    First Department of Medicine, University Hospital Schleswig Holstein, Schittenhelmstr 12, 24105 Kiel, Germany
    Nat Genet 36:476-80. 2004
    ..This is suggestive of a complex pattern of gene-gene interaction between DLG5 and CARD15, reflecting the complex nature of polygenic diseases. Further functional studies will evaluate the biological significance of DLG5 variants...
  45. pmc Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
    Miles Parkes
    Inflammatory Bowel Disease Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge CB2 2QQ, UK
    Nat Genet 39:830-2. 2007
    ..We obtained replication for the autophagy-inducing IRGM gene on chromosome 5q33.1 (replication P = 6.6 x 10(-4), combined P = 2.1 x 10(-10)) and for nine other loci, including NKX2-3, PTPN2 and gene deserts on chromosomes 1q and 5p13...
  46. ncbi request reprint Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
    Sarah Reid
    Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
    Nat Genet 39:162-4. 2007
    ....
  47. ncbi request reprint Association of DLG5 R30Q variant with inflammatory bowel disease
    Mark J Daly
    The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA
    Eur J Hum Genet 13:835-9. 2005
    ..This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect...
  48. ncbi request reprint Stratification by CARD15 variant genotype in a genome-wide search for inflammatory bowel disease susceptibility loci
    Sarah H Shaw
    DNA Sciences, Fremont, California, USA
    Hum Genet 113:514-21. 2003
    ..This result is in agreement with the existence of a substantial number of private variants at the NOD2/CARD15 locus. Interaction with NOD2/CARD15 needs to be considered in future gene identification efforts on chromosomes 6 and 10...
  49. pmc Common variants near MC4R are associated with fat mass, weight and risk of obesity
    Ruth J F Loos
    MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
    Nat Genet 40:768-75. 2008
    ....
  50. pmc Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    Jeffrey C Barrett
    Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Genet 40:955-62. 2008
    ..The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development...
  51. ncbi request reprint A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
    Jochen Hampe
    Institute for Clinical Molecular Biology, Christian Albrechts University Kiel, University Hospital Schleswig Holstein, 24105 Kiel, Germany
    Nat Genet 39:207-11. 2007
    ..039). Together with the lack of association between rs2241880 and ulcerative colitis (P > 0.4), these data suggest that the underlying biological process may be specific to Crohn disease...
  52. ncbi request reprint Genetic variation in myosin IXB is associated with ulcerative colitis
    Adriaan A van Bodegraven
    Department of Gastroenterology, VU University Medical Centre, Amsterdam, The Netherlands
    Gastroenterology 131:1768-74. 2006
    ..These findings suggested the current study investigating a possible further role for MYO9B variation in inflammatory bowel disease...
  53. pmc Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16p
    Jochen Hampe
    Department of General Internal Medicine, Christian Albrechts University, 24118 Kiel, Germany
    Proc Natl Acad Sci U S A 99:321-6. 2002
    ..00027, IBD phenotype). On stratification based on NOD2 genotype, this significance increased to P = 0.0001. These results confirm the importance of NOD2 and provide evidence for a second IBD gene located on chromosome 16p...
  54. ncbi request reprint Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15
    Kathy King
    Department of Medical and Molecular Genetics, Guy s, King s and St Thomas School of Medicine, King s College London, London, United Kingdom
    Hum Mutat 27:44-54. 2006
    ..The strategy developed here may have general application to the assessment of mutation pathogenicity and genetic models in other complex disorders...
  55. ncbi request reprint The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease
    Andrew P Cuthbert
    Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London, England, United Kingdom
    Gastroenterology 122:867-74. 2002
    ....
  56. ncbi request reprint The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J
    Marieke Levitus
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Van der Boechorststraat 7, NL 1081 BT Amsterdam, The Netherlands
    Nat Genet 37:934-5. 2005
    ..This finding is compelling evidence that the Fanconi anemia pathway functions through a direct physical interaction with DNA...
  57. ncbi request reprint Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport
    Tanja Y Reuter
    Department of Biochemistry, University of Wuerzburg, D 97074 Wuerzburg, Germany
    Exp Cell Res 289:211-21. 2003
    ..Taken together, our data strongly support the hypothesis that FA proteins are functionally involved in several complex cellular pathways including transcription regulation, cell signaling, oxidative metabolism, and cellular transport...
  58. ncbi request reprint Should chromosome breakage studies be performed in patients with VACTERL association?
    Laurence Faivre
    Centre de Genetique, Hôpital d Enfants, Dijon, France
    Am J Med Genet A 137:55-8. 2005
    ....
  59. ncbi request reprint Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease
    David A van Heel
    Intestinal Inflammation and Repair Group, Department of Gastroenterology, Imperial College London, UK
    Lancet 365:1794-6. 2005
    ....
  60. ncbi request reprint Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1
    Shobbir Hussain
    Division of Genetics and Development, Guy s, King s and St Thomas School of Medicine, King s College London, UK
    Hum Mol Genet 12:2503-10. 2003
    ....
  61. pmc Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression
    Philip Rosenstiel
    Institute of Clinical Molecular Biology, University Hospital Schleswig Holstein, Campus Kiel, Germany
    BMC Genomics 8:472. 2007
    ..Tissue specific constitutive and inducible expression patterns of NOD2 have been described that result from complex regulatory events for which the molecular mechanisms are not yet fully understood...
  62. ncbi request reprint Heterogeneity in Fanconi anemia: evidence for 2 new genetic subtypes
    Marieke Levitus
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Blood 103:2498-503. 2004
    ..Our results suggest that the FA pathway of genome stabilization may be controlled by at least 11 different genes, including FANCI and FANCJ...
  63. ncbi request reprint Interaction of FANCD2 and NBS1 in the DNA damage response
    Koji Nakanishi
    Department of Pediatric Oncology, Dana Farber Cancer Institute, 44 Binney Street, Boston, MA 02115, USA
    Nat Cell Biol 4:913-20. 2002
    ..NBS1 and FANCD2 therefore cooperate in two distinct cellular functions, one involved in the DNA crosslink response and one involved in the S-phase checkpoint response...
  64. ncbi request reprint Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors
    Toshiyasu Taniguchi
    Department of Pediatric Oncology, Dana Farber Cancer Institute, Guy s King s and St Thomas School of Medicine, London, UK
    Nat Med 9:568-74. 2003
    ..We propose a model for ovarian tumor progression in which the initial methylation of FANCF is followed by FANCF demethylation and ultimately results in cisplatin resistance...
  65. ncbi request reprint Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia
    Marc Tischkowitz
    Department of Medical and Molecular Genetics, Division of Genetics and Development Guy s, King s and St Thomas s School of Medicine, King s College London, Guy s Hospital, London, UK
    Br J Haematol 123:469-71. 2003
    ..As FANCF is localized in a hot-spot region for somatic hypermethylation (11p15), FANCF silencing might be an early step in sporadic carcinogenesis, including leukaemogenesis...
  66. ncbi request reprint Acquired FANCA dysfunction and cytogenetic instability in adult acute myelogenous leukemia
    M William Lensch
    OHSU Cancer Institute, CR145, Hatfield Research Center, 3181 SW Sam Jackson Park Rd, Portland, OR 97201, USA
    Blood 102:7-16. 2003
    ....
  67. ncbi request reprint Combined evidence from three large British Association studies rejects TUCAN/CARD8 as an IBD susceptibility gene
    Sheila A Fisher
    Gastroenterology 132:2078-80. 2007
  68. ncbi request reprint A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain
    Elsa Callen
    Universitat Autònoma de Barcelona and the Hospital Meterno Infantil Vall d Hebron, Barcelona, Spain
    Blood 105:1946-9. 2005
    ..The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer...
  69. ncbi request reprint Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways
    Shobbir Hussain
    Division of Genetics and Development, Guy s, King s and St Thomas s School of Medicine, King s College London, UK
    Hum Mol Genet 13:1241-8. 2004
    ..These findings suggest that FANCD2 may have a role in the cellular response to stalled replication forks or in the repair of replication-associated double-strand breaks, irrespective of the type of primary DNA lesion...
  70. ncbi request reprint Identification of the Fanconi anemia complementation group I gene, FANCI
    Josephine C Dorsman
    Department of Clinical Genetics, Vrije Universiteit Medical Center, Van der Boechorststraat 7, NL 1081 BT Amsterdam, The Netherlands
    Cell Oncol 29:211-8. 2007
    ..These data add up to two conclusions. First, KIAA1794 is a FA gene. Second, this gene is identical to FANCI, since the patient cell lines found mutated in this study included the reference cell line for group I, EUFA592...
  71. ncbi request reprint Tetratricopeptide-motif-mediated interaction of FANCG with recombination proteins XRCC3 and BRCA2
    Shobbir Hussain
    Department of Medical and Molecular Genetics, King s College London School of Medicine at Guy s Hospital, London SE1 9RT, UK
    DNA Repair (Amst) 5:629-40. 2006
    ..We propose that FANCG, in addition to stabilising the FA core complex, may have a role in building multiprotein complexes that facilitate homologous recombination repair...
  72. pmc A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M
    Amom Ruhikanta Meetei
    Division of Experimental Hematology, Cincinnati Children s Hospital Research Foundation and University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA
    Nat Genet 37:958-63. 2005
    ..Our data suggest an evolutionary link between Fanconi anemia-associated proteins and DNA repair; FANCM may act as an engine that translocates the Fanconi anemia core complex along DNA...