Literature DB >> 24105368

Clinical utility gene card for: Xeroderma pigmentosum.

Steffen Schubert1, Janin Lehmann1, Limor Kalfon2, Hanoch Slor3, Tzipora C Falik-Zaccai2, Steffen Emmert1.   

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Year:  2013        PMID： 24105368      PMCID： PMC4060106          DOI： 10.1038/ejhg.2013.233

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  19 in total

1.  Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.

Authors:  Kyu-Seon Oh; Sikandar G Khan; N G J Jaspers; Anja Raams; Takahiro Ueda; Alan Lehmann; Peter S Friedmann; Steffen Emmert; Alexi Gratchev; Katherine Lachlan; Anneke Lucassan; Carl C Baker; Kenneth H Kraemer
Journal:  Hum Mutat       Date:  2006-11       Impact factor: 4.878

2.  Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.

Authors:  Fabrizio Thorel; Angelos Constantinou; Isabelle Dunand-Sauthier; Thierry Nouspikel; Philippe Lalle; Anja Raams; Nicolaas G J Jaspers; Wim Vermeulen; Mahmud K K Shivji; Richard D Wood; Stuart G Clarkson
Journal:  Mol Cell Biol       Date:  2004-12       Impact factor: 4.272

Review 3.  The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.

Authors:  A R Lehmann
Journal:  Genes Dev       Date:  2001-01-01       Impact factor: 11.361

4.  Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.

Authors:  Annika Schäfer; Alexei Gratchev; Christina Seebode; Lars Hofmann; Steffen Schubert; Petra Laspe; Antje Apel; Andreas Ohlenbusch; Mladen Tzvetkov; Carsten Weishaupt; Vinzenz Oji; Michael P Schön; Steffen Emmert
Journal:  Exp Dermatol       Date:  2013-07       Impact factor: 3.960

Review 5.  Nucleotide excision repair and human syndromes.

Authors:  J de Boer; J H Hoeijmakers
Journal:  Carcinogenesis       Date:  2000-03       Impact factor: 4.944

6.  Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.

Authors:  Sikandar G Khan; Kyu-Seon Oh; Tala Shahlavi; Takahiro Ueda; David B Busch; Hiroki Inui; Steffen Emmert; Kyoko Imoto; Vanessa Muniz-Medina; Carl C Baker; John J DiGiovanna; Deborah Schmidt; Arash Khadavi; Ahmet Metin; Engin Gozukara; Hanoch Slor; Alain Sarasin; Kenneth H Kraemer
Journal:  Carcinogenesis       Date:  2005-08-04       Impact factor: 4.944

7.  Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.

Authors:  K H Kraemer; M M Lee; J Scotto
Journal:  Arch Dermatol       Date:  1987-02

8.  Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.

Authors:  S G Khan; H L Levy; R Legerski; E Quackenbush; J T Reardon; S Emmert; A Sancar; L Li; T D Schneider; J E Cleaver; K H Kraemer
Journal:  J Invest Dermatol       Date:  1998-11       Impact factor: 8.551

9.  Xeroderma pigmentosum-variant patients from America, Europe, and Asia.

Authors:  Hiroki Inui; Kyu-Seon Oh; Carine Nadem; Takahiro Ueda; Sikandar G Khan; Ahmet Metin; Engin Gozukara; Steffen Emmert; Hanoch Slor; David B Busch; Carl C Baker; John J DiGiovanna; Deborah Tamura; Cornelia S Seitz; Alexei Gratchev; Wen Hao Wu; Kee Yang Chung; Hye Jin Chung; Esther Azizi; Roger Woodgate; Thomas D Schneider; Kenneth H Kraemer
Journal:  J Invest Dermatol       Date:  2008-03-27       Impact factor: 8.551

Review 10.  Lessons learned from DNA repair defective syndromes.

Authors:  Kai-Martin Thoms; Christiane Kuschal; Steffen Emmert
Journal:  Exp Dermatol       Date:  2007-06       Impact factor: 3.960
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  8 in total

1.  XPF knockout via CRISPR/Cas9 reveals that ERCC1 is retained in the cytoplasm without its heterodimer partner XPF.

Authors:  Janin Lehmann; Christina Seebode; Sabine Smolorz; Steffen Schubert; Steffen Emmert
Journal:  Cell Mol Life Sci       Date:  2017-01-27       Impact factor: 9.261

2.  Macular and Retinal Nerve Fibre Layer Thinning in Xeroderma Pigmentosum: A Cross-sectional Study.

Authors:  Anna M Gruener; Ana M S Morley
Journal:  Neuroophthalmology       Date:  2018-05-22

Review 3.  Xeroderma Pigmentosum: Gene Variants and Splice Variants.

Authors:  Marie Christine Martens; Steffen Emmert; Lars Boeckmann
Journal:  Genes (Basel)       Date:  2021-07-29       Impact factor: 4.096

4.  Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.

Authors:  Nikola A Bowden; Natalie J Beveridge; Katie A Ashton; Katherine J Baines; Rodney J Scott
Journal:  Int J Mol Sci       Date:  2015-07-14       Impact factor: 5.923

5.  α6 Integrin (α6high)/Transferrin Receptor (CD71)low Keratinocyte Stem Cells Are More Potent for Generating Reconstructed Skin Epidermis Than Rapid Adherent Cells.

Authors:  Elodie Metral; Nicolas Bechetoille; Frédéric Demarne; Walid Rachidi; Odile Damour
Journal:  Int J Mol Sci       Date:  2017-01-27       Impact factor: 5.923

6.  Simultaneous squamous cell carcinoma and malignant melanoma of the conjunctiva in a teenager with xeroderma pigmentosum: Case report.

Authors:  Ever Rodriguez Caso; Allexya Aa Marcos; Melina Morales; Rubens N Belfort
Journal:  Indian J Ophthalmol       Date:  2019-07       Impact factor: 1.848

7.  Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population.

Authors:  Karina Miranda Santiago; Amanda França de Nóbrega; Rafael Malagoli Rocha; Silvia Regina Rogatto; Maria Isabel Achatz
Journal:  Int J Mol Sci       Date:  2015-04-22       Impact factor: 5.923

8.  Ipsilateral presentation of ocular surface squamous neoplasia and conjunctival melanoma in xeroderma pigmentosum: A rare occurrence.

Authors:  Deepanjali Arya; Sima Das; Arpan Gandhi
Journal:  Indian J Ophthalmol       Date:  2019-12       Impact factor: 1.848
  8 in total

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