Literature DB >> 22227937

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Mariem Ben Rekaya1, Olfa Messaoud, Amel Mebazaa, Olfa Riahi, Hela Azaiez, Rim Kefi, Mohamed Zghal, Samir Boubaker, Ahlem Amouri, Amel Ben Osman-Dhahri, Sonia Abdelhak, Mourad Mokni.   

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Year:  2011        PMID： 22227937     DOI： 10.1007/s12041-011-0101-y

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


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  18 in total

Review 1.  Molecular genetics of Xeroderma pigmentosum variant.

Authors:  Alexei Gratchev; Pamela Strein; Jochen Utikal; Goerdt Sergij
Journal:  Exp Dermatol       Date:  2003-10       Impact factor: 3.960

2.  Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population.

Authors:  Yuko Hirai; Yoshiaki Kodama; Shin-Ichi Moriwaki; Asao Noda; Harry M Cullings; Donald G Macphee; Kazunori Kodama; Kiyohiko Mabuchi; Kenneth H Kraemer; Charles E Land; Nori Nakamura
Journal:  Mutat Res       Date:  2006-08-14       Impact factor: 2.433

3.  What a difference a decade makes: insights into translesion DNA synthesis.

Authors:  Wei Yang; Roger Woodgate
Journal:  Proc Natl Acad Sci U S A       Date:  2007-09-26       Impact factor: 11.205

4.  Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms.

Authors:  Y Matsumura; C Nishigori; T Yagi; S Imamura; H Takebe
Journal:  Hum Mol Genet       Date:  1998-06       Impact factor: 6.150

5.  Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.

Authors:  O Messaoud; M Ben Rekaya; R Kefi; S Chebel; A Boughammoura-Bouatay; H Bel Hadj Ali; N Gouider-Khouja; J Zili; M Frih-Ayed; I Mokhtar; S Abdelhak; M Zghal
Journal:  Br J Dermatol       Date:  2010-02-25       Impact factor: 9.302

6.  Molecular analysis of mutations in DNA polymerase eta in xeroderma pigmentosum-variant patients.

Authors:  Bernard C Broughton; Agnes Cordonnier; Wim J Kleijer; Nicolaas G J Jaspers; Heather Fawcett; Anja Raams; Victor H Garritsen; Anne Stary; Marie-Françoise Avril; Francois Boudsocq; Chikahide Masutani; Fumio Hanaoka; Robert P Fuchs; Alain Sarasin; Alan R Lehmann
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-02       Impact factor: 11.205

7.  True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.

Authors:  Vesna Rapić-Otrin; Valentina Navazza; Tiziana Nardo; Elena Botta; Mary McLenigan; Dawn C Bisi; Arthur S Levine; Miria Stefanini
Journal:  Hum Mol Genet       Date:  2003-07-01       Impact factor: 6.150

8.  [Epidemio-clinical profile of skin cancer in southern Tunisia].

Authors:  Madiha Mseddi; Slaheddine Marrekchi; Wafa Abdelmaksoud; Samir Bouassida; Taha Jalel Meziou; Sonia Boudaya; Abderrahnen Masmoudi; Abdelmajid Zahaf; Hamida Turki
Journal:  Tunis Med       Date:  2007-06

9.  Xeroderma pigmentosum cells with normal levels of excision repair have a defect in DNA synthesis after UV-irradiation.

Authors:  A R Lehmann; S Kirk-Bell; C F Arlett; M C Paterson; P H Lohman; E A de Weerd-Kastelein; D Bootsma
Journal:  Proc Natl Acad Sci U S A       Date:  1975-01       Impact factor: 11.205

10.  Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.

Authors:  Miki Tanioka; Taro Masaki; Ryusuke Ono; Tohru Nagano; Eriko Otoshi-Honda; Yasuhiro Matsumura; Masahiro Takigawa; Hiroki Inui; Yoshiki Miyachi; Shinichi Moriwaki; Chikako Nishigori
Journal:  J Invest Dermatol       Date:  2007-03-08       Impact factor: 8.551
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  6 in total

1.  Whole-Exome Sequencing Enables the Diagnosis of Variant-Type Xeroderma Pigmentosum.

Authors:  Xiaokai Fang; Yonghu Sun
Journal:  Front Genet       Date:  2019-05-24       Impact factor: 4.599

2.  Genetics and genomic medicine in Tunisia.

Authors:  Houda Elloumi-Zghal; Habiba Chaabouni Bouhamed
Journal:  Mol Genet Genomic Med       Date:  2018-03       Impact factor: 2.183

3.  Variant subtype of xeroderma pigmentosum diagnosed in a 77-year-old woman.

Authors:  Andrew M Armenta; Paul R Massey; Sikandar G Khan; Deborah Tamura; Moise L Levy; John J DiGiovanna; Kenneth H Kraemer; Matthew C Fox
Journal:  JAAD Case Rep       Date:  2018-11-14

4.  Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.

Authors:  Xiaoyan Liu; Xianning Zhang; Jianjun Qiao; Hong Fang
Journal:  Int J Med Sci       Date:  2013-04-21       Impact factor: 3.738

5.  Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.

Authors:  Oscar Ortega-Recalde; Jéssica Inés Vergara; Dora Janeth Fonseca; Xiomara Ríos; Hernando Mosquera; Olga María Bermúdez; Claudia Liliana Medina; Clara Inés Vargas; Argemiro Enrique Pallares; Carlos Martín Restrepo; Paul Laissue
Journal:  PLoS One       Date:  2013-06-03       Impact factor: 3.240

6.  A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.

Authors:  Mariem Ben Rekaya; Nadia Laroussi; Olfa Messaoud; Mariem Jones; Manel Jerbi; Chokri Naouali; Yosra Bouyacoub; Mariem Chargui; Rym Kefi; Becima Fazaa; Mohamed Samir Boubaker; Hamouda Boussen; Mourad Mokni; Sonia Abdelhak; Mohamed Zghal; Aida Khaled; Houda Yacoub-Youssef
Journal:  Biomed Res Int       Date:  2014-05-04       Impact factor: 3.411
  6 in total

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