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Items: 1 to 50 of 204

1.

Four-dimensional, dynamic mosaicism is a hallmark of normal human skin that permits mapping of the organization and patterning of human epidermis during terminal differentiation.

Wang Y, Masaki T, Khan SG, Tamura D, Kuschal C, Rogers M, DiGiovanna JJ, Kraemer KH.

PLoS One. 2018 Jun 13;13(6):e0198011. doi: 10.1371/journal.pone.0198011. eCollection 2018.

2.

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F.

Shanbhag NM, Geschwind MD, DiGiovanna JJ, Groden C, Godfrey R, Yousefzadeh MJ, Wade EA, Niedernhofer LJ, Malicdan MCV, Kraemer KH, Gahl WA, Toro C.

Neurol Genet. 2018 Jun 8;4(3):e240. doi: 10.1212/NXG.0000000000000240. eCollection 2018 Jun.

3.

Pembrolizumab treatment of a patient with xeroderma pigmentosum with disseminated melanoma and multiple nonmelanoma skin cancers.

Kraemer KH, Tamura D, Khan SG.

Br J Dermatol. 2018 May;178(5):1009. doi: 10.1111/bjd.16525. No abstract available.

PMID:
29785825
4.

Recurrent scarring papulovesicular lesions on sun-exposed skin in a 22-year-old man.

Levoska MA, Cohen JI, Manoli I, Richard Lee CC, Ching SST, Shand J, Tamura D, Kraemer KH, DiGiovanna JJ.

J Am Acad Dermatol. 2018 Mar;78(3):637-642. doi: 10.1016/j.jaad.2017.08.005. Epub 2017 Sep 28.

PMID:
28964535
5.

Xeroderma Pigmentosum.

Kraemer KH, DiGiovanna JJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2003 Jun 20 [updated 2016 Sep 29].

6.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M.

Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17.

7.

Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.

Kuschal C, Khan SG, Enk B, DiGiovanna JJ, Kraemer KH.

Exp Dermatol. 2015 Apr;24(4):296-7. doi: 10.1111/exd.12655. Epub 2015 Mar 23.

PMID:
25651777
8.

Global contributions to the understanding of DNA repair and skin cancer.

Kraemer KH, DiGiovanna JJ.

J Invest Dermatol. 2014 Oct 10;134(e1):E8-17. doi: 10.1038/skinbio.2014.3. Review. No abstract available.

9.

Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.

Heller ER, Khan SG, Kuschal C, Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2015 Mar;135(3):734-741. doi: 10.1038/jid.2014.440. Epub 2014 Oct 7.

10.

Forty years of research on xeroderma pigmentosum at the US National Institutes of Health.

Kraemer KH, DiGiovanna JJ.

Photochem Photobiol. 2015 Mar-Apr;91(2):452-9. doi: 10.1111/php.12345. Epub 2015 Jan 8. Review.

11.

Growth and nutrition in children with trichothiodystrophy.

Atkinson EC, Thiara D, Tamura D, DiGiovanna JJ, Kraemer KH, Hadigan C.

J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):458-64. doi: 10.1097/MPG.0000000000000458.

12.

High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients.

Masaki T, Wang Y, DiGiovanna JJ, Khan SG, Raffeld M, Beltaifa S, Hornyak TJ, Darling TN, Lee CC, Kraemer KH.

Pigment Cell Melanoma Res. 2014 May;27(3):454-64. doi: 10.1111/pcmr.12226. Epub 2014 Feb 21.

PMID:
24483290
13.

Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.

Tamura D, DiGiovanna JJ, Khan SG, Kraemer KH.

Photodermatol Photoimmunol Photomed. 2014 Apr-Jun;30(2-3):146-52. doi: 10.1111/phpp.12108. Epub 2014 Feb 19. Review.

PMID:
24417420
14.

Burning issues in the diagnosis of xeroderma pigmentosum.

Kraemer KH, Tamura D, Khan SG, Digiovanna JJ.

Br J Dermatol. 2013 Dec;169(6):1176. doi: 10.1111/bjd.12707. No abstract available.

PMID:
24299525
15.

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).

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.

Acta Neuropathol Commun. 2013 May 8;1:4. doi: 10.1186/2051-5960-1-4.

16.

Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.

Kuschal C, DiGiovanna JJ, Khan SG, Gatti RA, Kraemer KH.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19483-8. doi: 10.1073/pnas.1312088110. Epub 2013 Nov 11.

17.

Histopathology of the inner ear in patients with xeroderma pigmentosum and neurologic degeneration.

Viana LM, Seyyedi M, Brewer CC, Zalewski C, DiGiovanna JJ, Tamura D, Totonchy M, Kraemer KH, Nadol JB Jr.

Otol Neurotol. 2013 Sep;34(7):1230-6. doi: 10.1097/MAO.0b013e31829795e9.

18.

Do not underestimate nucleotide excision repair: it predicts not only melanoma risk but also survival outcome.

Emmert S, Kraemer KH.

J Invest Dermatol. 2013 Jul;133(7):1713-7. doi: 10.1038/jid.2013.72.

19.

Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.

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.

Hum Mutat. 2013 Sep;34(9):1250-9. doi: 10.1002/humu.22354. Epub 2013 Jun 3.

20.

Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage.

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.

Ophthalmology. 2013 Jul;120(7):1324-36. doi: 10.1016/j.ophtha.2012.12.044. Epub 2013 Apr 16.

21.

Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration.

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.

Brain. 2013 Jan;136(Pt 1):194-208. doi: 10.1093/brain/aws317.

22.

Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.

Zhou X, Khan SG, Tamura D, Ueda T, Boyle J, Compe E, Egly JM, DiGiovanna JJ, Kraemer KH.

Eur J Hum Genet. 2013 Aug;21(8):831-7. doi: 10.1038/ejhg.2012.246. Epub 2012 Dec 12.

23.

Ancient origin of a Japanese xeroderma pigmentosum founder mutation.

Imoto K, Nadem C, Moriwaki S, Nishigori C, Oh KS, Khan SG, Goldstein AM, Kraemer KH.

J Dermatol Sci. 2013 Feb;69(2):175-6. doi: 10.1016/j.jdermsci.2012.10.008. Epub 2012 Nov 9. No abstract available.

24.

Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.

Tamura D, Khan SG, Merideth M, DiGiovanna JJ, Tucker MA, Goldstein AM, Oh KS, Ueda T, Boyle J, Sarihan M, Kraemer KH.

Eur J Hum Genet. 2012 Dec;20(12):1308-10. doi: 10.1038/ejhg.2012.90. Epub 2012 May 23.

25.

Montagna Symposium 2011: 60th Anniversary--Advances in Science and Medicine Catalyzed by Pioneering Skin Research.

Yuspa SH, Kraemer KH, Dlugosz AA, Roop DR, Kulesz-Martin M, Bickenbach JR.

J Invest Dermatol. 2012 May;132(5):1317-20. doi: 10.1038/jid.2011.480. No abstract available.

26.

Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities.

Moriwaki S, Takigawa M, Igarashi N, Nagai Y, Amano H, Ishikawa O, Khan SG, Kraemer KH.

Exp Dermatol. 2012 Apr;21(4):304-7. doi: 10.1111/j.1600-0625.2012.01446.x.

27.

Shining a light on xeroderma pigmentosum.

DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2012 Mar;132(3 Pt 2):785-96. doi: 10.1038/jid.2011.426. Epub 2012 Jan 5. Review.

28.

Ocular manifestations of trichothiodystrophy.

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.

Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28.

29.

Transcriptional signatures of full-spectrum and non-UVB-spectrum solar irradiation in human skin.

Tock CL, Turner LR, Altiner A, Batra P, Booher SL, Coelho SG, Warner JA, Therrien JP, Turner ML, Miller SA, Beer JZ, Kraemer KH, Udey MC, Vogel JC, Terunuma A.

Pigment Cell Melanoma Res. 2011 Oct;24(5):972-4. doi: 10.1111/j.1755-148X.2011.00899.x. Epub 2011 Aug 30. No abstract available.

30.

High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.

Tamura D, Merideth M, DiGiovanna JJ, Zhou X, Tucker MA, Goldstein AM, Brooks BP, Khan SG, Oh KS, Ueda T, Boyle J, Moslehi R, Kraemer KH.

Prenat Diagn. 2011 Nov;31(11):1046-53. doi: 10.1002/pd.2829. Epub 2011 Jul 29.

31.

Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients.

Niedernhofer LJ, Bohr VA, Sander M, Kraemer KH.

Mech Ageing Dev. 2011 Jun-Jul;132(6-7):340-7. doi: 10.1016/j.mad.2011.06.004. Epub 2011 Jun 25. Review.

32.

Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.

Ramkumar HL, Brooks BP, Cao X, Tamura D, Digiovanna JJ, Kraemer KH, Chan CC.

Surv Ophthalmol. 2011 Jul-Aug;56(4):348-61. doi: 10.1016/j.survophthal.2011.03.001. Review.

33.

Nucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cells.

Oh KS, Imoto K, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH.

Photochem Photobiol. 2011 May-Jun;87(3):729-33. doi: 10.1111/j.1751-1097.2011.00909.x. Epub 2011 Mar 9.

34.

Multiple skin cancers in adults with mutations in the XP-E (DDB2) DNA repair gene.

Oh KS, Emmert S, Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2011 Mar;131(3):785-8. doi: 10.1038/jid.2010.352. Epub 2010 Nov 25. No abstract available.

35.

Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.

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.

J Med Genet. 2011 Mar;48(3):168-76. doi: 10.1136/jmg.2010.083022. Epub 2010 Nov 19.

36.

UV-induced histone H2AX phosphorylation and DNA damage related proteins accumulate and persist in nucleotide excision repair-deficient XP-B cells.

Oh KS, Bustin M, Mazur SJ, Appella E, Kraemer KH.

DNA Repair (Amst). 2011 Jan 2;10(1):5-15. doi: 10.1016/j.dnarep.2010.09.004. Epub 2010 Oct 13.

37.

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.

Zhou X, Khan SG, Tamura D, Patronas NJ, Zein WM, Brooks BP, Kraemer KH, DiGiovanna JJ.

J Am Acad Dermatol. 2010 Aug;63(2):323-8. doi: 10.1016/j.jaad.2010.03.041. No abstract available.

38.

Founder mutations in xeroderma pigmentosum.

Tamura D, DiGiovanna JJ, Kraemer KH.

J Invest Dermatol. 2010 Jun;130(6):1491-3. doi: 10.1038/jid.2010.76.

39.

Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development.

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.

Clin Genet. 2010 Apr;77(4):365-73. doi: 10.1111/j.1399-0004.2009.01336.x. Epub 2009 Dec 10.

40.

Genetic diversity in melanoma metastases from a patient with xeroderma pigmentosum.

Wang Y, Tan XH, DiGiovanna JJ, Lee CC, Stern JB, Raffeld M, Jaffe ES, Kraemer KH.

J Invest Dermatol. 2010 Apr;130(4):1188-91. doi: 10.1038/jid.2009.377. Epub 2009 Dec 3. No abstract available.

41.

XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.

Khan SG, Yamanegi K, Zheng ZM, Boyle J, Imoto K, Oh KS, Baker CC, Gozukara E, Metin A, Kraemer KH.

Hum Mutat. 2010 Feb;31(2):167-75. doi: 10.1002/humu.21166.

42.

Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.

Ueda T, Compe E, Catez P, Kraemer KH, Egly JM.

J Exp Med. 2009 Dec 21;206(13):3031-46. doi: 10.1084/jem.20091892. Epub 2009 Nov 23.

43.

Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew.

Christen-Zaech S, Imoto K, Khan SG, Oh KS, Tamura D, Digiovanna JJ, Boyle J, Patronas NJ, Schiffmann R, Kraemer KH, Paller AS.

Arch Dermatol. 2009 Nov;145(11):1285-91. doi: 10.1001/archdermatol.2009.279.

44.

The nucleosome-binding protein HMGN2 modulates global genome repair.

Subramanian M, Gonzalez RW, Patil H, Ueda T, Lim JH, Kraemer KH, Bustin M, Bergel M.

FEBS J. 2009 Nov;276(22):6646-57. doi: 10.1111/j.1742-4658.2009.07375.x. Epub 2009 Oct 16.

45.

Evidence of ultraviolet type mutations in xeroderma pigmentosum melanomas.

Wang Y, Digiovanna JJ, Stern JB, Hornyak TJ, Raffeld M, Khan SG, Oh KS, Hollander MC, Dennis PA, Kraemer KH.

Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6279-84. doi: 10.1073/pnas.0812401106. Epub 2009 Mar 27.

46.

Skin cancers, blindness, and anterior tongue mass in African brothers.

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.

J Am Acad Dermatol. 2008 Nov;59(5):881-6. doi: 10.1016/j.jaad.2008.06.030. No abstract available.

47.

Activation of ATM depends on chromatin interactions occurring before induction of DNA damage.

Kim YC, Gerlitz G, Furusawa T, Catez F, Nussenzweig A, Oh KS, Kraemer KH, Shiloh Y, Bustin M.

Nat Cell Biol. 2009 Jan;11(1):92-6. doi: 10.1038/ncb1817. Epub 2008 Dec 14.

48.

XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.

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.

DNA Repair (Amst). 2009 Jan 1;8(1):114-25. doi: 10.1016/j.dnarep.2008.09.007. Epub 2008 Nov 14.

49.

Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).

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.

Exp Dermatol. 2009 Jan;18(1):64-8. doi: 10.1111/j.1600-0625.2008.00763.x. Epub 2008 Jul 7.

50.

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.

Faghri S, Tamura D, Kraemer KH, Digiovanna JJ.

J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25. Review.

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