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Items: 1 to 50 of 150

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.

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies.

Sanchez GAM, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, Schalm S, Murias S, Dare JA, Brown D, Stone DL, Gao L, Klausmeier T, Foell D, de Jesus AA, Chapelle DC, Kim H, Dill S, Colbert RA, Failla L, Kost B, O'Brien M, Reynolds JC, Folio LR, Calvo KR, Paul SM, Weir N, Brofferio A, Soldatos A, Biancotto A, Cowen EW, Digiovanna JJ, Gadina M, Lipton AJ, Hadigan C, Holland SM, Fontana J, Alawad AS, Brown RJ, Rother KI, Heller T, Brooks KM, Kumar P, Brooks SR, Waldman M, Singh HK, Nickeleit V, Silk M, Prakash A, Janes JM, Ozen S, Wakim PG, Brogan PA, Macias WL, Goldbach-Mansky R.

J Clin Invest. 2018 Jun 11. pii: 98814. doi: 10.1172/JCI98814. [Epub ahead of print]

4.

Chemoprevention of Basal and Squamous Cell Carcinoma With a Single Course of Fluorouracil, 5%, Cream: A Randomized Clinical Trial.

Weinstock MA, Thwin SS, Siegel JA, Marcolivio K, Means AD, Leader NF, Shaw FM, Hogan D, Eilers D, Swetter SM, Chen SC, Jacob SE, Warshaw EM, Stricklin GP, Dellavalle RP, Sidhu-Malik N, Konnikov N, Werth VP, Keri JE, Robinson-Bostom L, Ringer RJ, Lew RA, Ferguson R, DiGiovanna JJ, Huang GD; Veterans Affairs Keratinocyte Carcinoma Chemoprevention Trial (VAKCC) Group.

JAMA Dermatol. 2018 Feb 1;154(2):167-174. doi: 10.1001/jamadermatol.2017.3631.

PMID:
29299592
5.

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
6.

5-Fluorouracil for Actinic Keratosis Treatment and Chemoprevention: A Randomized Controlled Trial.

Walker JL, Siegel JA, Sachar M, Pomerantz H, Chen SC, Swetter SM, Dellavalle RP, Stricklin GP, Qureshi AA, DiGiovanna JJ, Weinstock MA.

J Invest Dermatol. 2017 Jun;137(6):1367-1370. doi: 10.1016/j.jid.2016.12.029. No abstract available.

7.

Molecular diagnosis of xeroderma pigmentosum variant in an isolated population: the interface between precision medicine and public health.

Tamura D, Khan SG, DiGiovanna JJ.

Br J Dermatol. 2017 May;176(5):1125-1126. doi: 10.1111/bjd.15435. No abstract available.

PMID:
28504392
8.

Basic Science Insights into Clinical Puzzles.

DiGiovanna JJ.

Dermatol Clin. 2017 Jan;35(1):ix-x. doi: 10.1016/j.det.2016.10.001. No abstract available.

PMID:
27890242
9.

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].

10.

Comparing histopathology from patients with X-linked recessive ichthyosis and autosomal recessive congenital ichthyosis with transglutaminase 1 mutation: A report from the National Registry for Ichthyosis and Related Skin Disorders.

Yang CS, Pomerantz H, Mannava KA, Corwin J, Weinstock MA, Fleckman P, DiGiovanna JJ, Robinson-Bostom L.

J Am Acad Dermatol. 2016 May;74(5):1008-10.e2. doi: 10.1016/j.jaad.2015.12.027. No abstract available.

11.

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.

12.

Cutaneous adverse events in multiple sclerosis patients treated with daclizumab.

Cortese I, Ohayon J, Fenton K, Lee CC, Raffeld M, Cowen EW, DiGiovanna JJ, Bielekova B.

Neurology. 2016 Mar 1;86(9):847-55. doi: 10.1212/WNL.0000000000002417. Epub 2016 Feb 3.

13.

Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome.

Aivaz O, Berkman S, Middelton L, Linehan WM, DiGiovanna JJ, Cowen EW.

JAMA Dermatol. 2015 Jul;151(7):770-4. doi: 10.1001/jamadermatol.2015.0215.

PMID:
25970555
14.

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
15.

Cutaneous adverse effects associated with the tyrosine-kinase inhibitor cabozantinib.

Zuo RC, Apolo AB, DiGiovanna JJ, Parnes HL, Keen CM, Nanda S, Dahut WL, Cowen EW.

JAMA Dermatol. 2015 Feb;151(2):170-7. doi: 10.1001/jamadermatol.2014.2734.

PMID:
25427282
16.

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.

17.

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.

18.

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.

19.

Activated STING in a vascular and pulmonary syndrome.

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R.

N Engl J Med. 2014 Aug 7;371(6):507-518. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16.

20.

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.

21.

Rapid development of migratory, linear, and serpiginous lesions in association with immunosuppression.

Pichard DC, Hensley JR, Williams E, Apolo AB, Klion AD, DiGiovanna JJ.

J Am Acad Dermatol. 2014 Jun;70(6):1130-4. doi: 10.1016/j.jaad.2013.11.036. Review.

22.

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
23.

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
24.

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
25.

Fluorouracil and other predictors of morpheaform basal cell carcinoma among high-risk patients: the Veterans Affairs Topical Tretinoin Chemoprevention Trial.

Xiong MY, Korgavkar K, Digiovanna JJ, Weinstock MA; Veterans Affairs Topical Tretinoin Chemoprevention Trial Group.

JAMA Dermatol. 2014 Mar;150(3):332-4. doi: 10.1001/jamadermatol.2013.5619. No abstract available.

PMID:
24258386
26.

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.

27.

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.

28.

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.

29.

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.

30.

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.

31.

Systemic retinoids in the management of ichthyoses and related skin types.

Digiovanna JJ, Mauro T, Milstone LM, Schmuth M, Toro JR.

Dermatol Ther. 2013 Jan-Feb;26(1):26-38. doi: 10.1111/j.1529-8019.2012.01527.x.

32.

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.

33.

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.

34.

Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.

Kimonis VE, Singh KE, Zhong R, Pastakia B, Digiovanna JJ, Bale SJ.

Genet Med. 2013 Jan;15(1):79-83. doi: 10.1038/gim.2012.96. Epub 2012 Aug 23.

PMID:
22918513
35.

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.

36.

Tretinoin and the prevention of keratinocyte carcinoma (Basal and squamous cell carcinoma of the skin): a veterans affairs randomized chemoprevention trial.

Weinstock MA, Bingham SF, Digiovanna JJ, Rizzo AE, Marcolivio K, Hall R, Eilers D, Naylor M, Kirsner R, Kalivas J, Cole G, Vertrees JE; Veterans Affairs Topical Tretinoin Chemoprevention Trial Group.

J Invest Dermatol. 2012 Jun;132(6):1583-90. doi: 10.1038/jid.2011.483. Epub 2012 Feb 9.

37.

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.

38.

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.

39.

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.

40.

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.

41.

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.

42.

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.

43.

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.

44.

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H.

J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. Review.

PMID:
20643494
45.

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.

46.

Fracturing support for the role of systemic retinoid therapy as a cause of bone demineralization.

DiGiovanna JJ.

Arch Dermatol. 2010 May;146(5):551-3. doi: 10.1001/archdermatol.2010.81. No abstract available.

PMID:
20479307
47.

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.

48.

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.

49.

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.

50.

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.

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