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Our Science – Kraemer Website

Kenneth H. Kraemer, M.D.

Selected Publications

1)  Kuschal C, Digiovanna JJ, Khan SG, Gatti RA, Kraemer KH.
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
Proc. Natl. Acad. Sci. U.S.A. 110: 19483-8, 2013.
2)  Tan X, Anzick SL, Khan SG, Ueda T, Stone G, Digiovanna JJ, Tamura D, Wattendorf D, Busch D, Brewer CC, Zalewski C, Butman JA, Griffith AJ, Meltzer PS, Kraemer KH.
Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency.
Hum. Mutat. 34: 1250-9, 2013.
3)  Lai JP, Liu YC, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee CC, Tsokos M, Hewitt S, Rushing EJ, Tamura D, Levens DL, Digiovanna JJ, Fine HA, Patronas N, Khan SG, Kleiner DE, Oberholtzer JC, Quezado MM, Kraemer KH.
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).
Acta Neuropathol Commun. 1: 4, 2013.
4)  Totonchy MB, Tamura D, Pantell MS, Zalewski C, Bradford PT, Merchant SN, Nadol J, Khan SG, Schiffmann R, Pierson TM, Wiggs E, Griffith AJ, DiGiovanna JJ, Kraemer KH, Brewer CC.
Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.
Brain. 136: 194-208, 2013.
5)  Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, DiGiovanna JJ, Tucker MA, Kraemer KH.
Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.
J. Med. Genet. 48: 168-76, 2011.
6)  Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, Zein WM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Iliff NT, Bradford P, Digiovanna JJ, Kraemer KH.
Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.
Ophthalmology. 120: 1324-36, 2013.
7)  Zhou X, Khan SG, Tamura D, Ueda T, Boyle J, Compe E, Egly J, Digiovanna JJ, Kraemer KH.
Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
Eur. J. Hum. Genet. 21: 831-7, 2013.
8)  Tamura D, Khan SG, Merideth M, Digiovanna JJ, Tucker MA, Goldstein AM, Oh K, Ueda T, Boyle J, Sarihan M, Kraemer KH.
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
Eur J Hum Genet. 20: 1308-10, 2012.
9)  Imoto K, Nadem C, Moriwaki S, Nishigori C, Oh KS, Khan SG, Goldstein AM, Kraemer KH.
Ancient origin of a Japanese xeroderma pigmentosum founder mutation.
J. Dermatol. Sci. 69: 175-6, 2013.
10)  DiGiovanna JJ, Kraemer KH.
Shining a light on xeroderma pigmentosum.
J. Invest. Dermatol. 132: 785-96, 2012.
11)  Kraemer K, DiGiovanna J.
Xeroderma Pigmentosum (updated Feb 13 2014).
GeneReviews (Internet). 2014.
In Press. [Journal]
12)  Masaki T, Wang Y, Digiovanna JJ, Khan SG, Raffeld M, Beltaifa S, Hornyak TJ, Darling TN, Lee CC, Kraemer KH.
High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.
Pigment Cell Melanoma Res. 27: 454-64, 2014.
13)  Kraemer KH, Tamura D, Khan SG, Digiovanna JJ.
Burning issues in the diagnosis of xeroderma pigmentosum.
Br. J. Dermatol. 169: 1176, 2013.
14)  Emmert S, Kraemer KH.
Do not underestimate nucleotide excision repair: it predicts not only melanoma risk but also survival outcome.
J. Invest. Dermatol. 133: 1713-7, 2013.
15)  Viana LM, Seyyedi M, Brewer CC, Zalewski C, Digiovanna JJ, Tamura D, Totonchy M, Kraemer KH, Nadol JB.
Histopathology of the Inner Ear in Patients With Xeroderma Pigmentosum and Neurologic Degeneration.
Otol. Neurotol. 34: 1230-1236, 2013.
16)  Tamura D, DiGiovanna JJ, Khan SG, Kraemer KH.
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
Photodermatol Photoimmunol Photomed. 30: 146-52, 2013.
17)  Kraemer K, Ruenger T.
Wolff K, Katz S, Goldsmith L, Gilchrist B, Leffell D, Paller A, eds.
Genome instability, DNA repair and cancer. In: Fitzpatrick's Dermatology in General Medicine. Volume eighth edition.
New York: McGraw-Hill; 2012. p. 1227-39 [Book Chapter]
18)  Ruenger T, DiGiovanna J, Kraemer K.
Wolff K, Katz S, Goldsmith L, Gilchrist B, Leffell D, Paller A, eds.
Hereditary diseases of genome instability and DNA repair. In: Fitzpatrick's Dermatology in General Medicine. Volume eighth edition.
New York: McGraw-Hill; 2012. p. 1654-71 [Book Chapter]
19)  Yuspa SH, Kraemer KH, Dlugosz AA, Roop DR, Kulesz-Martin M, Bickenbach JR.
Montagna Symposium 2011: 60th Anniversary--Advances in Science and Medicine Catalyzed by Pioneering Skin Research.
J. Invest. Dermatol. 132: 1317-20, 2012.
20)  Moriwaki S, Takigawa M, Igarashi N, Nagai Y, Amano H, Ishikawa O, Khan SG, Kraemer KH.
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.
Exp. Dermatol. 21: 304-7, 2012.
21)  Tamura D, Merideth M, Digiovanna JJ, Zhou X, Tucker MA, Goldstein AM, Brooks BP, Khan SG, Oh K, Ueda T, Boyle J, Moslehi R, Kraemer KH.
High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
Prenat Diagn. 31: 1046-53, 2011.
22)  Oh KS, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH.
Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.
J. Invest. Dermatol. 131: 785-8, 2011.
23)  Oh KS, Imoto K, Emmert S, Tamura D, Digiovanna JJ, Kraemer KH.
Nucleotide Excision Repair Proteins Rapidly Accumulate but Fail to Persist in Human XP-E (DDB2 Mutant) Cells.
Photochem. Photobiol. 87: 729-33, 2011.
24)  Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH.
Ocular manifestations of trichothiodystrophy.
Ophthalmology. 118: 2335-42, 2011.
25)  Tock CL, Turner LR, Altiner A, Batra P, Booher SL, Coelho SG, Warner JA, Therrien J, Turner ML, Miller SA, Beer JZ, Kraemer KH, Udey MC, Vogel JC, Terunuma A.
Transcriptional signatures of full-spectrum and non-UVB-spectrum solar irradiation in human skin.
Pigment Cell Melanoma Res. 24: 972-4, 2011.
26)  Oh K, Bustin M, Mazur SJ, Appella E, Kraemer KH.
UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells.
DNA Repair (Amst.). 10: 5-15, 2011.
27)  Kraemer K, DiGiovanna J.
Xeroderma Pigmentosum.
GeneReviews at GeneTests: Medical Genetics Information Resource. August: Online publication, 2011.
Full Text Article. [Journal]
28)  Niedernhofer LJ, Bohr VA, Sander M, Kraemer KH.
Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: Molecules to patients.
Mech. Ageing Dev. 132: 340-7, 2011.
29)  Tamura D, DiGiovanna J, Kraemer K.
Lebwohl M, Heymann W, Berth-Jones J, Coulson I, eds.
Xeroderma pigmentosum. In: Treatment of Skin Disease - comprehensive Therapeutic Strategies. Volume third edition.
London: Saunders, Elsevier; 2010. p. 78-9792 [Book Chapter]
30)  Moslehi R, Signore C, Tamura D, Mills JL, Digiovanna JJ, Tucker MA, Troendle J, Ueda T, Boyle J, Khan SG, Oh KS, Goldstein AM, Kraemer KH.
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.
Clin. Genet. 77: 365-73, 2010.
31)  Zhou X, Khan SG, Tamura D, Patronas NJ, Zein WM, Brooks BP, Kraemer KH, DiGiovanna JJ.
Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.
J. Am. Acad. Dermatol. 63: 323-8, 2010.
32)  Tamura D, DiGiovanna JJ, Kraemer KH.
Founder mutations in xeroderma pigmentosum.
J. Invest. Dermatol. 130: 1491-3, 2010.
33)  Wang Y, Tan XH, DiGiovanna JJ, Lee CC, Stern JB, Raffeld M, Jaffe ES, Kraemer KH.
Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.
J. Invest. Dermatol. 130: 1188-91, 2010.
34)  Ramkumar HL, Brooks BP, Cao X, Tamura D, Digiovanna JJ, Kraemer KH, Chan CC.
Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.
Surv Ophthalmol. 56: 348-61, 2010.
35)  Khan SG, Yamanegi K, Zheng ZM, Boyle J, Imoto K, Oh KS, Baker CC, Gozukara E, Metin A, Kraemer KH.
XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
Hum. Mutat. 31: 167-75, 2010.
36)  Kim YC, Gerlitz G, Furusawa T, Catez F, Nussenzweig A, Oh KS, Kraemer KH, Shiloh Y, Bustin M.
Activation of ATM depends on chromatin interactions occurring before induction of DNA damage.
Nat. Cell Biol. 11: 92-6, 2009.
37)  Ueda T, Compe E, Catez P, Kraemer KH, Egly JM.
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
J. Exp. Med. 206: 3031-46, 2009.
38)  Wang Y, Digiovanna JJ, Stern JB, Hornyak TJ, Raffeld M, Khan SG, Oh KS, Hollander MC, Dennis PA, Kraemer KH.
Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.
Proc. Natl. Acad. Sci. U.S.A. 106: 6279-84, 2009.
39)  Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH.
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
Exp. Dermatol. 18: 64-8, 2009.
40)  Subramanian M, Gonzalez RW, Patil H, Ueda T, Lim JH, Kraemer KH, Bustin M, Bergel M.
The nucleosome-binding protein HMGN2 modulates global genome repair.
FEBS J. 276: 6646-57, 2009.
41)  Christen-Zaech S, Imoto K, Khan SG, Oh KS, Tamura D, Digiovanna JJ, Boyle J, Patronas NJ, Schiffmann R, Kraemer KH, Paller AS.
Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.
Arch Dermatol. 145: 1285-91, 2009.
42)  Khan SG, Oh KS, Emmert S, Imoto K, Tamura D, Digiovanna JJ, Shahlavi T, Armstrong N, Baker CC, Neuburg M, Zalewski C, Brewer C, Wiggs E, Schiffmann R, Kraemer KH.
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
DNA Repair (Amst.). 8: 114-25, 2009.
43)  Kraemer K, Ruenger T.
Wolff K, Katz S, Goldsmith L, Gilchrist B, Leffell D, Paller A, eds.
Genome instability, DNA repair and cancer. In: Fitzpatrick's Dermatology in General Medicine. Volume seventh edition.
New York: Mc-Graw Hill; 2008. p. 977-986 [Book Chapter]
44)  Ruenger T, DiGiovanna J, Kraemer K.
Wolff K, Katz S, Goldsmith L, Gilchrist B, Leffell D, Paller A, eds.
Hereditary Diseases of genome instability and DNA repair. In: Fitzpatrick's Dermatology in General Medicine. Volume seventh edition.
New York: Mc-Graw Hill; 2008. p. 1311 -1325 [Book Chapter]
45)  Stefanini M, Kraemer K.
Xeroderma pigmentosum. In: Neurocutaneous disorders: Phakomatoses. Volume Chapter 51.
New York: Springer-Verlag; 2008. p. 771-792 [Book Chapter]
46)  Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Hum. Mutat. 2008.
47)  Mahindra P, DiGiovanna JJ, Tamura D, Brahim JS, Hornyak TJ, Stern JB, Lee CC, Khan SG, Brooks BP, Smith JA, Driscoll BP, Montemarano AD, Sugarman K, Kraemer KH.
Skin cancers, blindness, and anterior tongue mass in African brothers.
J. Am. Acad. Dermatol. 59: 881-6, 2008.
48)  Faghri S, Tamura D, Kraemer KH, Digiovanna JJ.
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
J. Med. Genet. 45: 609-21, 2008.
49)  Inui H, Oh KS, Nadem C, Ueda T, Khan SG, Metin A, Gozukara E, Emmert S, Slor H, Busch DB, Baker CC, DiGiovanna JJ, Tamura D, Seitz CS, Gratchev A, Wu WH, Chung KY, Chung HJ, Azizi E, Woodgate R, Schneider TD, Kraemer KH.
Xeroderma pigmentosum-variant patients from America, Europe, and Asia.
J. Invest. Dermatol. 128: 2055-68, 2008.
50)  Moriwaki SI, Kraemer K.
Krieg T, eds.
Disorders of DNA repair. In: Therapy of Skin Diseases.
2007. In Press. [Book Chapter]
51)  Berneburg M, Kraemer K.
Lim H, Hoenigsmann H, Hawk J, eds.
Xeroderma pigmentosum and other repair deficient photodermatoses. In: Photodermatology.
New York: Informa Healthcare; 2007. p. 239-249 [Book Chapter]
52)  Oh KS, Imoto K, Boyle J, Khan SG, Kraemer KH.
Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage.
DNA Repair (Amst.). 6: 1359-70, 2007.
53)  Kraemer KH, Sander M, Bohr VA.
New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging.
Mech. Ageing Dev. 128: 229-35, 2007.
54)  Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Neuroscience. 145: 1388-96, 2007.
55)  Emmert S, Wetzig T, Imoto K, Khan SG, Oh KS, Laspe P, Zachmann K, Simon JC, Kraemer KH.
A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family.
J. Invest. Dermatol. 126: 2542-4, 2006.
56)  Schlücker S, Liang C, Strehle KR, Digiovanna JJ, Kraemer KH, Levin IW.
Conformational differences in protein disulfide linkages between normal hair and hair from subjects with trichothiodystrophy: A quantitative analysis by Raman microspectroscopy.
Biopolymers. 82: 615-622, 2006.
Full Text Article. [Journal]
57)  Hirai Y, Kodama Y, Moriwaki S, Noda A, Cullings HM, Macphee DG, Kodama K, Mabuchi K, Kraemer KH, Land CE, Nakamura N.
Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.
Mutat. Res. 601: 171-8, 2006.
58)  Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH.
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum. Mutat. 27: 1092-103, 2006.
59)  Khan SG, Oh K, Shahlavi T, Ueda T, Busch DB, Inui H, Emmert S, Imoto K, Muniz-Medina V, Baker CC, DiGiovanna JJ, Schmidt D, Khadavi A, Metin A, Gozukara E, Slor H, Sarasin A, Kraemer KH.
Reduced XPC DNA repair gene mRNA levels in clinically normal arents of xeroderma pigmentosum patients.
Carcinogenesis. 27: 84-94, 2006.
60)  Liang C, Morris A, Schlücker S, Imoto K, Price VH, Menefee E, Wincovitch SM, Levin IW, Tamura D, Strehle KR, Kraemer KH, DiGiovanna JJ.
Structural and molecular hair abnormalities in trichothiodystrophy.
J. Invest. Dermatol. 126: 2210-6, 2006.
61)  Blankenburg S, König IR, Moessner R, Laspe P, Thoms KM, Krueger U, Khan SG, Westphal G, Berking C, Volkenandt M, Reich K, Neumann C, Ziegler A, Kraemer KH, Emmert S.
Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study.
Carcinogenesis. 26: 1085-90, 2005.
62)  Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, DiGiovanna JJ.
Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy.
J Am Acad Dermatol. 52: 224-32, 2005.
63)  Blankenburg S, König IR, Moessner R, Laspe P, Thoms KM, Krueger U, Khan SG, Westphal G, Volkenandt M, Neumann C, Ziegler A, Kraemer KH, Reich K, Emmert S.
No association between three xeroderma pigmentosum group C and one group G gene polymorphisms and risk of cutaneous melanoma.
Eur J Hum Genet. 13: 253-5, 2005.
64)  Bohr VA, Sander M, Kraemer KH.
Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer center.
DNA Repair (Amst). 4: 293-302, 2005.
65)  Kraemer KH, Bohr VA, DNA Repair Interest Group .
The DNA Repair Interest Group: a global village.
DNA Repair (Amst). 4: 405-6, 2005.
66)  Wattendorf D, Kraemer K.
Xeroderma pigmentosum.
GeneReviews. 1, 2005.
Full Text Article. [Journal]
67)  Kraemer KH.
From proteomics to disease.
Nat Genet. 36: 677-8, 2004.
68)  Takeuchi S, Zhang W, Wakamatsu K, Ito S, Hearing VJ, Kraemer KH, Brash DE.
Melanin acts as a potent UVB photosensitizer to cause an atypical mode of cell death in murine skin.
Proc Natl Acad Sci U S A. 101: 15076-81, 2004.
69)  Khan SG, Metin A, Gozukara E, Inui H, Shahlavi T, Muniz-Medina V, Baker CC, Ueda T, Aiken JR, Schneider TD, Kraemer KH.
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.
Hum Mol Genet. 13: 343-52, 2004.
70)  Terunuma A, Ye J, Emmert S, Khan SG, Kraemer KH, Vogel JC.
Ultraviolet light selection assay to optimize oligonucleotide correction of mutations in endogenous xeroderma pigmentosum genes.
Gene Ther. 2004.
71)  Birger Y, West KL, Postnikov YV, Lim JH, Furusawa T, Wagner JP, Laufer CS, Kraemer KH, Bustin M.
Chromosomal protein HMGN1 enhances the rate of DNA repair in chromatin.
EMBO J. 22: 1665-75, 2003.
72)  Kraemer KH.
NRAS hypermutability in familial melanoma with CDKN2A mutations--cause and effect?.
J Natl Cancer Inst. 95: 768-9, 2003.
73)  Robbins JH, Kraemer KH, Merchant SN, Brumback RA.
Adult-onset xeroderma pigmentosum neurological disease--observations in an autopsy case.
Clin Neuropathol. 21: 18-23, 2002.
74)  Qiao Y, Spitz MR, Guo Z, Hadeyati M, Grossman L, Kraemer KH, Wei Q.
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.
Mutat Res. 509: 165-74, 2002.
75)  Emmert S, Slor H, Busch DB, Batko S, Albert RB, Coleman D, Khan SG, Abu-Libdeh B, DiGiovanna JJ, Cunningham BB, Lee MM, Crollick J, Inui H, Ueda T, Hedayati M, Grossman L, Shahlavi T, Cleaver JE, Kraemer KH.
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
J Invest Dermatol. 118: 972-82, 2002.
76)  Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, Emmert S, Schneider TD, Kraemer KH.
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.
Nucleic Acids Res. 30: 3624-31, 2002.
77)  Yavuz S, Yavuz AS, Kraemer KH, Lipsky PE.
The role of polymerase eta in somatic hypermutation determined by analysis of mutations in a patient with xeroderma pigmentosum variant.
J Immunol. 169: 3825-30, 2002.
78)  Kraemer KH, DiGiovanna JJ.
Topical enzyme therapy for skin diseases?.
J Am Acad Dermatol. 46: 463-6, 2002.
79)  Furuta T, Ueda T, Aune G, Sarasin A, Kraemer KH, Pommier Y.
Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells.
Cancer Res. 62: 4899-902, 2002.
80)  Gozukara EM, Khan SG, Metin A, Emmert S, Busch DB, Shahlavi T, Coleman DM, Miller M, Chinsomboon N, Stefanini M, Kraemer KH.
A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
J Invest Dermatol. 117: 197-204, 2001.
81)  Shen H, Sturgis EM, Khan SG, Qiao Y, Shahlavi T, Eicher SA, Xu Y, Wang X, Strom SS, Spitz MR, Kraemer KH, Wei Q.
An intronic poly (AT) polymorphism of the DNA repair gene XPC and risk of squamous cell carcinoma of the head and neck: a case-control study.
Cancer Res. 61: 3321-5, 2001.
82)  Takebayashi Y, Pourquier P, Zimonjic DB, Nakayama K, Emmert S, Ueda T, Urasaki Y, Kanzaki A, Akiyama SI, Popescu N, Kraemer KH, Pommier Y.
Antiproliferative activity of ecteinascidin 743 is dependent upon transcription-coupled nucleotide-excision repair.
Nat Med. 7: 961-6, 2001.
83)  Zeng X, Winter DB, Kasmer C, Kraemer KH, Lehmann AR, Gearhart PJ.
DNA polymerase eta is an A-T mutator in somatic hypermutation of immunoglobulin variable genes.
Nat Immunol. 2: 537-41, 2001.
84)  Bohr VA, Souza Pinto N, Nyaga SG, Dianov G, Kraemer K, Seidman MM, Brosh RM.
DNA repair and mutagenesis in Werner syndrome.
Environ Mol Mutagen. 38: 227-34, 2001.
85)  Suzuki H, Kalair W, Shivji GM, Wang B, Toto P, Amerio P, Kraemer KH, Sauder DN.
Impaired ultraviolet-B-induced cytokine induction in xeroderma pigmentosum fibroblasts.
J Invest Dermatol. 117: 1151-5, 2001.
86)  Emmert S, Schneider TD, Khan SG, Kraemer KH.
The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.
Nucleic Acids Res. 29: 1443-52, 2001.
87)  Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR.
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
Hum Mol Genet. 10: 2539-47, 2001.
88)  Moriwaki S, Kraemer KH.
Xeroderma pigmentosum--bridging a gap between clinic and laboratory.
Photodermatol Photoimmunol Photomed. 17: 47-54, 2001.
89)  Lindenbaum Y, Dickson D, Rosenbaum P, Kraemer K, Robbins I, Rapin I.
Xeroderma pigmentosum/cockayne syndrome complex: first neuropathological study and review of eight other cases.
Eur J Paediatr Neurol. 5: 225-42, 2001.
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This page was last updated on 8/7/2014.