Literature DB >> 24418926

Differences in clinical phenotype among patients with XP complementation group D: 3D structure and ATP-docking of XPD in silico.

Eiji Nakano1, Ryusuke Ono1, Taro Masaki1, Seiji Takeuchi1, Yutaka Takaoka2, Eiichi Maeda2, Chikako Nishigori3.   

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Year:  2014        PMID： 24418926     DOI： 10.1038/jid.2014.14

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  12 in total

1.  XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.

Authors:  Li Fan; Jill O Fuss; Quen J Cheng; Andrew S Arvai; Michal Hammel; Victoria A Roberts; Priscilla K Cooper; John A Tainer
Journal:  Cell       Date:  2008-05-30       Impact factor: 41.582

2.  Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.

Authors:  Jennifer Boyle; Takahiro Ueda; Kyu-Seon Oh; Kyoko Imoto; Deborah Tamura; Jared Jagdeo; Sikandar G Khan; Carine Nadem; John J Digiovanna; Kenneth H Kraemer
Journal:  Hum Mutat       Date:  2008-10       Impact factor: 4.878

3.  Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.

Authors:  T Kobayashi; I Kuraoka; M Saijo; Y Nakatsu; A Tanaka; Y Someda; S Fukuro; K Tanaka
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

4.  A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.

Authors:  Tzipora C Falik-Zaccai; Reut Erel-Segal; Liran Horev; Ora Bitterman-Deutsch; Sivan Koka; Sara Chaim; Zohar Keren; Limor Kalfon; Bella Gross; Zvi Segal; Shlomi Orgal; Yishay Shoval; Hanoch Slor; Graciela Spivak; Philip C Hanawalt
Journal:  Environ Mol Mutagen       Date:  2012-07-23       Impact factor: 3.216

5.  Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

Authors:  E M Taylor; B C Broughton; E Botta; M Stefanini; A Sarasin; N G Jaspers; H Fawcett; S A Harcourt; C F Arlett; A R Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  1997-08-05       Impact factor: 11.205

6.  Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

Authors:  K Takayama; E P Salazar; A Lehmann; M Stefanini; L H Thompson; C A Weber
Journal:  Cancer Res       Date:  1995-12-01       Impact factor: 12.701

7.  Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.

Authors:  Takehiro Kobayashi; Makoto Uchiyama; Shuhei Fukuro; Kiyoji Tanaka
Journal:  Am J Med Genet       Date:  2002-07-01

8.  Structure of the DNA repair helicase XPD.

Authors:  Huanting Liu; Jana Rudolf; Kenneth A Johnson; Stephen A McMahon; Muse Oke; Lester Carter; Anne-Marie McRobbie; Sara E Brown; James H Naismith; Malcolm F White
Journal:  Cell       Date:  2008-05-30       Impact factor: 41.582

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

Authors:  Steffen Emmert; Takahiro Ueda; Urs Zumsteg; Peter Weber; Sikandar G Khan; Kyu-Seon Oh; Jennifer Boyle; Petra Laspe; Karolin Zachmann; Lars Boeckmann; Christiane Kuschal; Andreas Bircher; Kenneth H Kraemer
Journal:  Exp Dermatol       Date:  2008-07-07       Impact factor: 3.960

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

Authors:  Takahiro Ueda; Emmanuel Compe; Philippe Catez; Kenneth H Kraemer; Jean-Marc Egly
Journal:  J Exp Med       Date:  2009-11-23       Impact factor: 14.307
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  6 in total

Review 1.  Xeroderma pigmentosum-Cockayne syndrome complex.

Authors:  Valerie Natale; Hayley Raquer
Journal:  Orphanet J Rare Dis       Date:  2017-04-04       Impact factor: 4.123

2.  Co-precipitation molecules hemopexin and transferrin may be key molecules for fibrillogenesis in TTR V30M amyloidogenesis.

Authors:  Mika Ohta; Aki Sugano; Naoya Hatano; Hirotaka Sato; Hirofumi Shimada; Hitoshi Niwa; Toshiyuki Sakaeda; Hajime Tei; Yoshiyuki Sakaki; Ken-Ichi Yamamura; Yutaka Takaoka
Journal:  Transgenic Res       Date:  2017-12-29       Impact factor: 2.788

3.  In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in maturity-onset diabetes of the young type 1.

Authors:  Kenji Sugawara; Kazuhiro Nomura; Yuko Okada; Aki Sugano; Masaaki Matsumoto; Toru Takarada; Atsuko Takeuchi; Hiroyuki Awano; Yushi Hirota; Hisahide Nishio; Yutaka Takaoka; Wataru Ogawa
Journal:  J Diabetes Investig       Date:  2018-12-10       Impact factor: 4.232

4.  Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Authors:  Hiva Fassihi; Mieran Sethi; Heather Fawcett; Jonathan Wing; Natalie Chandler; Shehla Mohammed; Emma Craythorne; Ana M S Morley; Rongxuan Lim; Sally Turner; Tanya Henshaw; Isabel Garrood; Paola Giunti; Tammy Hedderly; Adesoji Abiona; Harsha Naik; Gemma Harrop; David McGibbon; Nicolaas G J Jaspers; Elena Botta; Tiziana Nardo; Miria Stefanini; Antony R Young; Robert P E Sarkany; Alan R Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  2016-02-16       Impact factor: 11.205

5.  Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.

Authors:  Mariangela Sabatella; Arjan F Theil; Cristina Ribeiro-Silva; Jana Slyskova; Karen Thijssen; Chantal Voskamp; Hannes Lans; Wim Vermeulen
Journal:  Nucleic Acids Res       Date:  2018-10-12       Impact factor: 16.971

6.  In Silico Drug Repurposing by Structural Alteration after Induced Fit: Discovery of a Candidate Agent for Recovery of Nucleotide Excision Repair in Xeroderma Pigmentosum Group D Mutant (R683W).

Authors:  Yutaka Takaoka; Mika Ohta; Satoshi Tateishi; Aki Sugano; Eiji Nakano; Kenji Miura; Takashi Suzuki; Chikako Nishigori
Journal:  Biomedicines       Date:  2021-03-03
  6 in total

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