Literature DB >> 25337066

What a Difference an ERCC1 or ERCC4 (XPF) Mutation Makes!

Martin Poot.   

Abstract

Entities:  

Year:  2014        PMID： 25337066      PMCID： PMC4188153          DOI： 10.1159/000358893

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


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  14 in total

1.  Werner syndrome cells are sensitive to DNA cross-linking drugs.

Authors:  M Poot; J S Yom; S H Whang; J T Kato; K A Gollahon; P S Rabinovitch
Journal:  FASEB J       Date:  2001-05       Impact factor: 5.191

2.  Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia.

Authors:  Massimo Bogliolo; Beatrice Schuster; Chantal Stoepker; Burak Derkunt; Yan Su; Anja Raams; Juan P Trujillo; Jordi Minguillón; María J Ramírez; Roser Pujol; José A Casado; Rocío Baños; Paula Rio; Kerstin Knies; Sheila Zúñiga; Javier Benítez; Juan A Bueren; Nicolaas G J Jaspers; Orlando D Schärer; Johan P de Winter; Detlev Schindler; Jordi Surrallés
Journal:  Am J Hum Genet       Date:  2013-04-25       Impact factor: 11.025

3.  Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

Authors:  Kazuya Kashiyama; Yuka Nakazawa; Daniela T Pilz; Chaowan Guo; Mayuko Shimada; Kensaku Sasaki; Heather Fawcett; Jonathan F Wing; Susan O Lewin; Lucinda Carr; Tao-Sheng Li; Koh-ichiro Yoshiura; Atsushi Utani; Akiyoshi Hirano; Shunichi Yamashita; Danielle Greenblatt; Tiziana Nardo; Miria Stefanini; David McGibbon; Robert Sarkany; Hiva Fassihi; Yoshito Takahashi; Yuji Nagayama; Norisato Mitsutake; Alan R Lehmann; Tomoo Ogi
Journal:  Am J Hum Genet       Date:  2013-04-25       Impact factor: 11.025

4.  Functional role of the Werner syndrome RecQ helicase in human fibroblasts.

Authors:  Kiranjit K Dhillon; Julia Sidorova; Yannick Saintigny; Martin Poot; Katherine Gollahon; Peter S Rabinovitch; Raymond J Monnat
Journal:  Aging Cell       Date:  2007-02       Impact factor: 9.304

5.  Werner syndrome lymphoblastoid cells are sensitive to camptothecin-induced apoptosis in S-phase.

Authors:  M Poot; K A Gollahon; P S Rabinovitch
Journal:  Hum Genet       Date:  1999-01       Impact factor: 4.132

6.  Werner syndrome diploid fibroblasts are sensitive to 4-nitroquinoline-N-oxide and 8-methoxypsoralen: implications for the disease phenotype.

Authors:  Martin Poot; Katherine A Gollahon; Mary J Emond; John R Silber; Peter S Rabinovitch
Journal:  FASEB J       Date:  2002-03-12       Impact factor: 5.191

7.  Cytogenetics of Werner's syndrome cultured skin fibroblasts: variegated translocation mosaicism.

Authors:  D Salk; K Au; H Hoehn; G M Martin
Journal:  Cytogenet Cell Genet       Date:  1981

8.  Systematic growth studies, cocultivation, and cell hybridization studies of Werner syndrome cultured skin fibroblasts.

Authors:  D Salk; E Bryant; K Au; H Hoehn; G M Martin
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy.

Authors:  Wim J Kleijer; Vincent Laugel; Mark Berneburg; Tiziana Nardo; Heather Fawcett; Alexei Gratchev; Nicolaas G J Jaspers; Alain Sarasin; Miria Stefanini; Alan R Lehmann
Journal:  DNA Repair (Amst)       Date:  2008-03-10

Review 10.  Spectrum and risk of neoplasia in Werner syndrome: a systematic review.

Authors:  Julia M Lauper; Alison Krause; Thomas L Vaughan; Raymond J Monnat
Journal:  PLoS One       Date:  2013-04-01       Impact factor: 3.240
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