Literature DB >> 8353413

Trinucleotide repeats and genome variation.

D P Kuhl1, C T Caskey.   

Abstract

The recent cloning of several disease genes has identified the instability of trinucleotide repeats as a fundamental mechanism for variation within the human genome. This mutation mechanism explains the unique inheritance characteristics of the diseases it causes, and there is a significant potential that this mechanism is involved in the pathogenesis of other, as yet uncharacterized, genetic diseases.

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Year:  1993        PMID： 8353413     DOI： 10.1016/0959-437x(93)90112-3

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  10 in total

Review 1.  Genetic regulation of phospholipid biosynthesis in Saccharomyces cerevisiae.

Authors:  M L Greenberg; J M Lopes
Journal:  Microbiol Rev       Date:  1996-03

2.  Gene conversion plays the major role in controlling the stability of large tandem repeats in yeast.

Authors:  S Gangloff; H Zou; R Rothstein
Journal:  EMBO J       Date:  1996-04-01       Impact factor: 11.598

3.  A Ca2+/calmodulin-dependent protein kinase, CaM kinase-Gr, expressed after transformation of primary human B lymphocytes by Epstein-Barr virus (EBV) is induced by the EBV oncogene LMP1.

Authors:  G Mosialos; S H Hanissian; S Jawahar; L Vara; E Kieff; T A Chatila
Journal:  J Virol       Date:  1994-03       Impact factor: 5.103

4.  Error-prone replication of repeated DNA sequences by T7 DNA polymerase in the absence of its processivity subunit.

Authors:  T A Kunkel; S S Patel; K A Johnson
Journal:  Proc Natl Acad Sci U S A       Date:  1994-07-19       Impact factor: 11.205

Review 5.  Mini- and microsatellites.

Authors:  C Ramel
Journal:  Environ Health Perspect       Date:  1997-06       Impact factor: 9.031

6.  Mapping quantitative trait loci controlling milk production in dairy cattle by exploiting progeny testing.

Authors:  M Georges; D Nielsen; M Mackinnon; A Mishra; R Okimoto; A T Pasquino; L S Sargeant; A Sorensen; M R Steele; X Zhao
Journal:  Genetics       Date:  1995-02       Impact factor: 4.562

7.  Genetic analysis of kifafa, a complex familial seizure disorder.

Authors:  R J Neuman; J M Kwon; L Jilek-Aall; H T Rwiza; J P Rice; P J Goodfellow
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  Species-specific markers for the differential diagnosis of Trypanosoma cruzi and Trypanosoma rangeli and polymorphisms detection in Trypanosoma rangeli.

Authors:  Keila Adriana Magalhães Ferreira; Emanuella Francisco Fajardo; Rodrigo P Baptista; Andrea Mara Macedo; Eliane Lages-Silva; Luis Eduardo Ramírez; André Luiz Pedrosa
Journal:  Parasitol Res       Date:  2014-04-12       Impact factor: 2.289

9.  Altered expression after expansion of a v-erbA transgene in transgenic mice.

Authors:  C Barlow; B Meister; U Lendahl; B Vennström
Journal:  Transgenic Res       Date:  1995-11       Impact factor: 2.788

10.  Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Authors:  R S Wildin; M J Antush; R L Bennett; J M Schoof; C R Scott
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025
  10 in total

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