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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. 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 J, Liu Y, Alimchandani M, Liu Q, Aung PP, Matsuda K, Lee C, Tsokos M, Hewitt S, Rushing E, Tamura D, Levens D, DiGiovanna J, Fine H, Patronas N, Khan S, Kleiner D, Oberholtzer JC, Quezado M, Kraemer K.
The influence of DNA repair on neurologic degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).
Acta Neuropathologica Communications. 1: 4, 2013.
Full Text Article. [Journal]
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. [Epub ahead of print], 2012.
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. [Epub ahead of print], 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.
Click Here to View Expanded Bibliography.

This page was last updated on 11/25/2013.