K H Kraemer

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Topical enzyme therapy for skin diseases?
    Kenneth H Kraemer
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bldg 37, Room 3E24, Bethesda, MD 20892, USA
    J Am Acad Dermatol 46:463-6. 2002
  2. ncbi request reprint New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging
    Kenneth H Kraemer
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    Mech Ageing Dev 128:229-35. 2007
  3. pmc Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage
    Kyu Seon Oh
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892 4258, USA
    DNA Repair (Amst) 6:1359-70. 2007
  4. pmc Shining a light on xeroderma pigmentosum
    John J DiGiovanna
    DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    J Invest Dermatol 132:785-96. 2012
  5. pmc Do not underestimate nucleotide excision repair: it predicts not only melanoma risk but also survival outcome
    Steffen Emmert
    Department of Dermatology, Venerology, and Allergology, University Medical Center Gottingen, Gottingen, Germany
    J Invest Dermatol 133:1713-7. 2013
  6. pmc Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration
    Mariam B Totonchy
    Dermatology Branch, National Cancer Institute, Bethesda, MD 20892, USA
    Brain 136:194-208. 2013
  7. pmc Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
    K H Kraemer
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Building 37 Room 4002 MSC 4258, Bethesda, MD 20892 4258, USA
    Neuroscience 145:1388-96. 2007
  8. ncbi request reprint Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair
    Y Takebayashi
    Laboratory of Molecular Pharmacology, National Cancer Institute/NIH, Bethesda, Maryland, USA
    Nat Med 7:961-6. 2001
  9. ncbi request reprint Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes
    A Terunuma
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
    Gene Ther 11:1729-34. 2004
  10. pmc The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms
    S Emmert
    Basic Research Laboratory, National Cancer Institute, National Institutes of Health, Building 37 Room 3E24, Bethesda, MD 20892, USA
    Nucleic Acids Res 29:1443-52. 2001

Collaborators

Detail Information

Publications43

  1. ncbi request reprint Topical enzyme therapy for skin diseases?
    Kenneth H Kraemer
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bldg 37, Room 3E24, Bethesda, MD 20892, USA
    J Am Acad Dermatol 46:463-6. 2002
  2. ncbi request reprint New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging
    Kenneth H Kraemer
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    Mech Ageing Dev 128:229-35. 2007
    ..This workshop report summarizes some of the presentations and outcomes of the workshop...
  3. pmc Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage
    Kyu Seon Oh
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892 4258, USA
    DNA Repair (Amst) 6:1359-70. 2007
    ..Ineffectual repair of UV-induced photoproducts resulting from delayed recruitment and impaired redistribution of NER proteins may contribute to the markedly increased frequency of skin cancer in XP patients...
  4. pmc Shining a light on xeroderma pigmentosum
    John J DiGiovanna
    DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    J Invest Dermatol 132:785-96. 2012
    ..Interestingly, patients with another disorder, trichothiodystrophy, have defects in some of the same genes as XP, but they have primary developmental abnormalities without an increase in skin cancer...
  5. pmc Do not underestimate nucleotide excision repair: it predicts not only melanoma risk but also survival outcome
    Steffen Emmert
    Department of Dermatology, Venerology, and Allergology, University Medical Center Gottingen, Gottingen, Germany
    J Invest Dermatol 133:1713-7. 2013
    ..In this issue, Li et al. provide evidence that SNPs in NER genes may also predict melanoma survival...
  6. pmc Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration
    Mariam B Totonchy
    Dermatology Branch, National Cancer Institute, Bethesda, MD 20892, USA
    Brain 136:194-208. 2013
    ..These results provide evidence that DNA repair is critical in maintaining neurological integrity of the auditory system...
  7. pmc Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
    K H Kraemer
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Building 37 Room 4002 MSC 4258, Bethesda, MD 20892 4258, USA
    Neuroscience 145:1388-96. 2007
    ....
  8. ncbi request reprint Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair
    Y Takebayashi
    Laboratory of Molecular Pharmacology, National Cancer Institute/NIH, Bethesda, Maryland, USA
    Nat Med 7:961-6. 2001
    ..We found that Et743 interacts with the transcription-coupled NER machinery to induce lethal DNA strand breaks...
  9. ncbi request reprint Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes
    A Terunuma
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
    Gene Ther 11:1729-34. 2004
    ..This assay can be used to assess and evaluate other types of ODN-based approaches, and to further optimize them...
  10. pmc The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms
    S Emmert
    Basic Research Laboratory, National Cancer Institute, National Institutes of Health, Building 37 Room 3E24, Bethesda, MD 20892, USA
    Nucleic Acids Res 29:1443-52. 2001
    ..74 for 3507G and 0.26 for 3507C in 91 donors. The human XPG gene contains multiple splice sites with low information content in association with multiple alternatively spliced isoforms of XPG mRNA...
  11. pmc Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development
    R Moslehi
    Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA
    Clin Genet 77:365-73. 2010
    ..Thus, we hypothesize that TTD DNA repair and transcription genes play an important role in normal human placental development...
  12. pmc Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
    S Faghri
    DNA Repair Section, Basic Research Laboratory, Center for Clinical Research, Building 37, Room 4002, MSC 4258, National Cancer Institute, Bethesda, MD 20892, USA
    J Med Genet 45:609-21. 2008
    ..Abnormal characteristics at birth and pregnancy complications, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development...
  13. pmc Abnormal ultraviolet mutagenic spectrum in plasmid DNA replicated in cultured fibroblasts from a patient with the skin cancer-prone disease, xeroderma pigmentosum
    S Seetharam
    Laboratory of Molecular Carcinogenesis, National Cancer Institute, Bethesda, Maryland 20892
    J Clin Invest 80:1613-7. 1987
    ....
  14. ncbi request reprint Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center
    Vilhelm A Bohr
    Laboratory of Molecular Gerontology, NIH, National Institute on Aging, Baltimore, MD 21224, USA
    DNA Repair (Amst) 4:293-302. 2005
    ..Mouse models offer the possibility of exploring the effects of complex interactions among these genes. These issues were all discussed at a recent workshop...
  15. ncbi request reprint Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: a quantitative analysis by Raman microspectroscopy
    S Schl├╝cker
    Laboratory of Chemical Physics, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Biopolymers 82:615-22. 2006
    ..Structure-spectra correlations for the three dominant disulfide conformers are confirmed by quantum chemical calculations using modern density functional theory (DFT)...
  16. pmc Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy
    Jennifer Boyle
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    Hum Mutat 29:1194-208. 2008
    ..In contrast, in TTD, low levels of unstable TFIIH proteins do not accumulate at sites of unrepaired photoproducts and may permit normal translesion DNA synthesis without increased skin cancer...
  17. pmc XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms
    Sikandar G Khan
    Basic Research Laboratory, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, United States
    DNA Repair (Amst) 8:114-25. 2009
    ..The neurological abnormalities in patient XP21BE may be related to close consanguinity and simultaneous inheritance of other recessive genes or other gene modifying effects rather than the influence of XPC gene itself...
  18. ncbi request reprint Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients
    Steffen Emmert
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    J Invest Dermatol 118:972-82. 2002
    ..Retaining residual functional activity in one allele was associated with mild clinical features without neurologic abnormalities...
  19. ncbi request reprint Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells
    Takahisa Furuta
    Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20892 4255, USA
    Cancer Res 62:4899-902. 2002
    ..XPC complementation had no effect on cisplatin antiproliferative activity. We propose that one of the pathways related to cisplatin response is TC-NER, not GG-NER...
  20. ncbi request reprint Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome
    Kyu Seon Oh
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    Hum Mutat 27:1092-103. 2006
    ..The remarkable phenotypic heterogeneity of XPB is associated with partially active missense mutations in milder patients while severe XP/CS complex patients have nonsense mutations in both alleles with low levels of altered XPB proteins...
  21. ncbi request reprint Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy
    Christine Liang
    DNA Repair Section, National Cancer Institute, Bethesda, Maryland, USA
    J Am Acad Dermatol 52:224-32. 2005
    ..Tiger tail banding under polarizing light microscopy and hair shaft abnormalities are associated with trichothiodystrophy (TTD), a rare disorder with a wide spectrum of clinical presentations...
  22. ncbi request reprint Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk
    Sikandar G Khan
    Basic Research Laboratory, Center for Cancer Research, National Cancer Institute NIH, Building 37 Room 4002 MSC 4258, Bethesda, MD 20892 4258, USA
    Hum Mol Genet 13:343-52. 2004
    ..However, a small amount of normal XPC mRNA can provide partial protection against skin cancers...
  23. ncbi request reprint Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia
    S G Khan
    Laboratory of Molecular Carcinogenesis, National Cancer Institute, Bethesda, Maryland 20892, USA
    J Invest Dermatol 111:791-6. 1998
    ..Normal glycine levels were maintained with oral glycine supplements and his hyperactivity diminished. These data provide evidence of an association of an XPC splice site mutation with autistic neurologic features and hypoglycinemia...
  24. ncbi request reprint Adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case
    J H Robbins
    Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 1908, USA
    Clin Neuropathol 21:18-23. 2002
    ..Our findings indicate that XP ND originating in this adult is, like XP ND in children, a primary neuronal degeneration that manifests first in the peripheral nervous system...
  25. pmc The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function
    Sikandar G Khan
    Basic Research Laboratory, National Cancer Institute, Building 37 Room 3E24, Bethesda, MD 20892, USA
    Nucleic Acids Res 30:3624-31. 2002
    ..6-fold) of the XPC mRNA isoform that skipped exon 12 than those homozygous for C/C. This abnormally spliced XPC mRNA isoform has diminished DNA repair function and may contribute to cancer susceptibility...
  26. pmc XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients
    Sikandar G Khan
    Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
    Hum Mutat 31:167-75. 2010
    ..At the cellular level these changes were associated with features of reduced DNA repair including diminished NER protein recruitment, reduced post-UV survival and impaired photoproduct removal...
  27. pmc Founder mutations in xeroderma pigmentosum
    Deborah Tamura
    Dermatology Branch, National Cancer Institute, Bethesda, MD 20892, USA
    J Invest Dermatol 130:1491-3. 2010
    ..These patients have a high frequency of skin cancer. The presence of this founder mutation provides an opportunity for genetic counseling and early diagnosis of XP...
  28. ncbi request reprint Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients
    Sikandar G Khan
    Basic Research Laboratory and Laboratory of Cellular Oncology, CCR, NCI, Bethesda, MD, USA
    Carcinogenesis 27:84-94. 2006
    ..This study demonstrates reduced XPC mRNA levels in XP-C patients and heterozygotes. Thus, XPC mRNA levels may be evaluated as a marker of cancer susceptibility in carriers of mutations in the XPC gene...
  29. pmc Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair
    Porcia T Bradford
    Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    J Med Genet 48:168-76. 2011
    ..The frequency of cancer, neurologic degeneration and mortality in xeroderma pigmentosum (XP) patients with defective DNA repair was determined in a four decade natural history study...
  30. pmc Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas
    Yun Wang
    Basic Research Laboratory, Laboratory of Pathology, Dermatology Branch, Medical Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 106:6279-84. 2009
    ..This gene is known to be a key regulator of carcinogenesis and therefore these data provide solid mechanistic support for UV protection for prevention of melanoma...
  31. pmc Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin
    Yehudit Birger
    Protein Section, LM, Basic Research Laboratory, CCR, NCI, NIH, Bethesda, MD 20892, USA
    EMBO J 22:1665-75. 2003
    ..By reducing the compaction of the higher-order chromatin structure, HMGN1 facilitates access to UV-damaged DNA sites and enhances the rate of DNA repair in chromatin...
  32. pmc Xeroderma pigmentosum-variant patients from America, Europe, and Asia
    Hiroki Inui
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892 4258, USA
    J Invest Dermatol 128:2055-68. 2008
    ..We found a wide spectrum of mutations in the POLH gene among XP-V patients in different countries, suggesting that many of these mutations arose independently...
  33. ncbi request reprint The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant
    Sule Yavuz
    Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
    J Immunol 169:3825-30. 2002
    ..However, its overall contribution to the somatic hypermutational process does not appear to be indispensable and in its absence other mechanisms maintain mutational activity...
  34. ncbi request reprint Structural and molecular hair abnormalities in trichothiodystrophy
    Christine Liang
    DNA Repair Section, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892 4258, USA
    J Invest Dermatol 126:2210-6. 2006
    ..Our data indicate that the brittleness of the TTD hair is dependent upon abnormalities at several levels of organization. These changes make TTD hairs excessively prone to breakage and weathering...
  35. ncbi request reprint From proteomics to disease
    Kenneth H Kraemer
    Nat Genet 36:677-8. 2004
  36. ncbi request reprint A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family
    Steffen Emmert
    J Invest Dermatol 126:2542-4. 2006
  37. ncbi request reprint No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma
    Sandra Blankenburg
    Department of Dermatology, Georg August University Goettingen, von Siebold Strasse 3, 37075 Goettingen, Germany
    Eur J Hum Genet 13:253-5. 2005
    ....
  38. ncbi request reprint Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study
    Sandra Blankenburg
    Department of Dermatology, Georg August University, Goettingen, Germany
    Carcinogenesis 26:1085-90. 2005
    ..Our results should be validated in independent samples in order to guard against false positive findings...
  39. ncbi request reprint Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population
    Yuko Hirai
    Department of Genetics, Radiation Effects Research Foundation, 5 2 Hijiyama Park, Hiroshima, Japan
    Mutat Res 601:171-8. 2006
    ..88%. This rate, if representative, implies that there are about 1 million carriers of the XPA founder mutation in the Japanese population. Thus, investigation of their cancer risk may be warranted...
  40. pmc Melanin acts as a potent UVB photosensitizer to cause an atypical mode of cell death in murine skin
    Seiji Takeuchi
    Departments of Therapeutic Radiology, Genetics, and Dermatology, and Yale Comprehensive Cancer Center, Yale School of Medicine, New Haven, CT 06520 8040, USA
    Proc Natl Acad Sci U S A 101:15076-81. 2004
    ..Melanin-induced apoptosis may contribute to the increased sensitivity of individuals with blonde and red hair to sunburn and skin cancer...
  41. ncbi request reprint NRAS hypermutability in familial melanoma with CDKN2A mutations--cause and effect?
    Kenneth H Kraemer
    J Natl Cancer Inst 95:768-9. 2003
  42. ncbi request reprint Rapid assessment of repair of ultraviolet DNA damage with a modified host-cell reactivation assay using a luciferase reporter gene and correlation with polymorphisms of DNA repair genes in normal human lymphocytes
    Yawei Qiao
    Department of Epidemiology, Box 189, The University of Texas M D Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA
    Mutat Res 509:165-74. 2002
    ..These features make the LUC-based HCR assay suitable for molecular epidemiological studies...
  43. ncbi request reprint The DNA Repair Interest Group: a global village
    Kenneth H Kraemer
    DNA Repair (Amst) 4:405-6. 2005