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Items: 19

1.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D.

Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017.

2.

Heterogeneity and overlaps in nucleotide excision repair disorders.

Ferri D, Orioli D, Botta E.

Clin Genet. 2020 Jan;97(1):12-24. doi: 10.1111/cge.13545. Epub 2019 Apr 22. Review.

PMID:
30919937
3.

Epigenetic Regulation of Skin Cells in Natural Aging and Premature Aging Diseases.

Orioli D, Dellambra E.

Cells. 2018 Dec 12;7(12). pii: E268. doi: 10.3390/cells7120268. Review.

4.

Cockayne Syndrome Type A Protein Protects Primary Human Keratinocytes from Senescence.

Cordisco S, Tinaburri L, Teson M, Orioli D, Cardin R, Degan P, Stefanini M, Zambruno G, Guerra L, Dellambra E.

J Invest Dermatol. 2019 Jan;139(1):38-50. doi: 10.1016/j.jid.2018.06.181. Epub 2018 Sep 25.

5.

From Structure to Phenotype: Impact of Collagen Alterations on Human Health.

Arseni L, Lombardi A, Orioli D.

Int J Mol Sci. 2018 May 8;19(5). pii: E1407. doi: 10.3390/ijms19051407. Review.

6.

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, Lanzafame M, Moriwaki S, Sugita K, Kubota M, Obringer C, Spitz MA, Stefanini M, Laugel V, Orioli D, Ogi T, Lehmann AR.

J Med Genet. 2018 May;55(5):329-343. doi: 10.1136/jmedgenet-2017-104877. Epub 2018 Mar 23.

PMID:
29572252
7.

Digital PCR identifies changes in CDH1 (E-cadherin) transcription pattern in intestinal-type gastric cancer.

Abou Khouzam R, Molinari C, Salvi S, Marabelli M, Molinaro V, Orioli D, Saragoni L, Morgagni P, Calistri D, Ranzani GN.

Oncotarget. 2017 Mar 21;8(12):18811-18820. doi: 10.18632/oncotarget.13401.

8.

Overexpression of parkin rescues the defective mitochondrial phenotype and the increased apoptosis of Cockayne Syndrome A cells.

Pascucci B, D'Errico M, Romagnoli A, De Nuccio C, Savino M, Pietraforte D, Lanzafame M, Calcagnile AS, Fortini P, Baccarini S, Orioli D, Degan P, Visentin S, Stefanini M, Isidoro C, Fimia GM, Dogliotti E.

Oncotarget. 2016 Jun 7;8(61):102852-102867. doi: 10.18632/oncotarget.9913. eCollection 2017 Nov 28.

9.

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.

10.

Studies on the ATP Binding Site of Fyn Kinase for the Identification of New Inhibitors and Their Evaluation as Potential Agents against Tauopathies and Tumors.

Tintori C, La Sala G, Vignaroli G, Botta L, Fallacara AL, Falchi F, Radi M, Zamperini C, Dreassi E, Dello Iacono L, Orioli D, Biamonti G, Garbelli M, Lossani A, Gasparrini F, Tuccinardi T, Laurenzana I, Angelucci A, Maga G, Schenone S, Brullo C, Musumeci F, Desogus A, Crespan E, Botta M.

J Med Chem. 2015 Jun 11;58(11):4590-609. doi: 10.1021/acs.jmedchem.5b00140. Epub 2015 May 20.

PMID:
25923950
11.

Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes.

Lanzafame M, Botta E, Teson M, Fortugno P, Zambruno G, Stefanini M, Orioli D.

Exp Dermatol. 2015 Apr;24(4):314-6. doi: 10.1111/exd.12657.

PMID:
25651864
12.

TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.

Arseni L, Lanzafame M, Compe E, Fortugno P, Afonso-Barroso A, Peverali FA, Lehmann AR, Zambruno G, Egly JM, Stefanini M, Orioli D.

Proc Natl Acad Sci U S A. 2015 Feb 3;112(5):1499-504. doi: 10.1073/pnas.1416181112. Epub 2015 Jan 20.

13.

From laboratory tests to functional characterisation of Cockayne syndrome.

Lanzafame M, Vaz B, Nardo T, Botta E, Orioli D, Stefanini M.

Mech Ageing Dev. 2013 May-Jun;134(5-6):171-9. doi: 10.1016/j.mad.2013.03.007. Epub 2013 Apr 6. Review.

PMID:
23567079
14.

XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.

Orioli D, Compe E, Nardo T, Mura M, Giraudon C, Botta E, Arrigoni L, Peverali FA, Egly JM, Stefanini M.

Hum Mol Genet. 2013 Mar 15;22(6):1061-73. doi: 10.1093/hmg/dds508. Epub 2012 Dec 5.

PMID:
23221806
15.

A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.

Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M.

Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.

16.

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

Botta E, Nardo T, Orioli D, Guglielmino R, Ricotti R, Bondanza S, Benedicenti F, Zambruno G, Stefanini M.

Hum Mutat. 2009 Mar;30(3):438-45. doi: 10.1002/humu.20912.

PMID:
19085937
17.

In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.

Yasuda G, Nishi R, Watanabe E, Mori T, Iwai S, Orioli D, Stefanini M, Hanaoka F, Sugasawa K.

Mol Cell Biol. 2007 Oct;27(19):6606-14. Epub 2007 Aug 6.

18.

Transfer of a human chromosomal vector from a hamster cell line to a mouse embryonic stem cell line.

Paulis M, Bensi M, Orioli D, Mondello C, Mazzini G, D'Incalci M, Falcioni C, Radaelli E, Erba E, Raimondi E, De Carli L.

Stem Cells. 2007 Oct;25(10):2543-50. Epub 2007 Jul 5.

19.

Rac3-induced neuritogenesis requires binding to Neurabin I.

Orioli D, Colaluca IN, Stefanini M, Riva S, Dotti CG, Peverali FA.

Mol Biol Cell. 2006 May;17(5):2391-400. Epub 2006 Mar 8.

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