Literature DB >> 9776183

Transition mutations at CpG dinucleotides are the most frequent in vivo spontaneous single-based substitution mutation in the human HPRT gene.

J P O'Neill1, B A Finette.   

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Year:  1998        PMID： 9776183     DOI： 10.1002/(sici)1098-2280(1998)32:2<188::aid-em16>3.0.co;2-y

Source DB:  PubMed          Journal:  Environ Mol Mutagen        ISSN： 0893-6692            Impact factor:   3.216


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  13 in total

Review 1.  On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

Authors:  David N Cooper; Albino Bacolla; Claude Férec; Karen M Vasquez; Hildegard Kehrer-Sawatzki; Jian-Min Chen
Journal:  Hum Mutat       Date:  2011-09-02       Impact factor: 4.878

2.  Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Authors:  Radhika Sampat; Rong Fu; Laura E Larovere; Rosa J Torres; Irene Ceballos-Picot; Michel Fischbach; Raquel de Kremer; David J Schretlen; Juan Garcia Puig; H A Jinnah
Journal:  Hum Genet       Date:  2010-10-28       Impact factor: 4.132

3.  Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Authors:  Irène Ceballos-Picot; Franck Augé; Rong Fu; Anne Olivier-Bandini; Julie Cahu; Brigitte Chabrol; Bernard Aral; Bérengère de Martinville; Jean-Paul Lecain; H A Jinnah
Journal:  Mol Genet Metab       Date:  2013-09-08       Impact factor: 4.797

4.  The unexpected landscape of in vivo somatic mutation in a human epithelial cell lineage.

Authors:  Lorel M Colgin; Alden F M Hackmann; Mary J Emond; Raymond J Monnat
Journal:  Proc Natl Acad Sci U S A       Date:  2002-01-29       Impact factor: 11.205

5.  Reduced rates of gene loss, gene silencing, and gene mutation in Dnmt1-deficient embryonic stem cells.

Authors:  M F Chan; R van Amerongen; T Nijjar; E Cuppen; P A Jones; P W Laird
Journal:  Mol Cell Biol       Date:  2001-11       Impact factor: 4.272

6.  Large-scale analysis of adeno-associated virus vector integration sites in normal human cells.

Authors:  Daniel G Miller; Grant D Trobridge; Lisa M Petek; Michael A Jacobs; Rajinder Kaul; David W Russell
Journal:  J Virol       Date:  2005-09       Impact factor: 5.103

Review 7.  Adeno-associated virus vector integration.

Authors:  David R Deyle; David W Russell
Journal:  Curr Opin Mol Ther       Date:  2009-08

Review 8.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501

9.  Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.

Authors:  David N Cooper; Matthew Mort; Peter D Stenson; Edward V Ball; Nadia A Chuzhanova
Journal:  Hum Genomics       Date:  2010-08       Impact factor: 4.639

10.  Characteristic mutations induced in the small intestine of Msh2-knockout gpt delta mice.

Authors:  Yasunobu Aoki; Mizuki Ohno; Michiyo Matsumoto; Michi Matsumoto; Kenichi Masumura; Takehiko Nohmi; Teruhisa Tsuzuki
Journal:  Genes Environ       Date:  2021-07-05
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