Literature DB >> 8260825

Trinucleotide repeat expansions in neurological disease.

S T Warren1, D L Nelson.   

Abstract

During the past year, new examples of human neurological disease have been discovered that have an unprecedented type of mutation as their cause: the remarkable expansion of trinucleotide repeats. These triplet repeats are normally polymorphic and exonic, though not always coding. In disease states they become markedly unstable and may expand moderately or by thousands of repeats in a single generation, influencing gene expression, message stability or protein structure.

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Year:  1993        PMID: 8260825     DOI: 10.1016/0959-4388(93)90149-s

Source DB:  PubMed          Journal:  Curr Opin Neurobiol        ISSN: 0959-4388            Impact factor:   6.627


  7 in total

1.  Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast.

Authors:  Nicole Cherng; Alexander A Shishkin; Lucas I Schlager; Ryan H Tuck; Laura Sloan; Robert Matera; Partha S Sarkar; Tetsuo Ashizawa; Catherine H Freudenreich; Sergei M Mirkin
Journal:  Proc Natl Acad Sci U S A       Date:  2011-01-31       Impact factor: 11.205

2.  Characteristic enrichment of DNA repeats in different genomes.

Authors:  R Cox; S M Mirkin
Journal:  Proc Natl Acad Sci U S A       Date:  1997-05-13       Impact factor: 11.205

Review 3.  Mechanisms of DNA expansion.

Authors:  C T McMurray
Journal:  Chromosoma       Date:  1995-10       Impact factor: 4.316

4.  Microsatellites in different eukaryotic genomes: survey and analysis.

Authors:  G Tóth; Z Gáspári; J Jurka
Journal:  Genome Res       Date:  2000-07       Impact factor: 9.043

5.  Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes.

Authors:  Anika Oellrich; Nigel Collier; Damian Smedley; Tudor Groza
Journal:  PLoS One       Date:  2015-01-21       Impact factor: 3.240

6.  Definition and refinement of the 7q36.3 duplication region associated with schizophrenia.

Authors:  Branko Aleksic; Itaru Kushima; Tamae Ohye; Masashi Ikeda; Shohko Kunimoto; Yukako Nakamura; Akira Yoshimi; Takayoshi Koide; Shuji Iritani; Hiroki Kurahashi; Nakao Iwata; Norio Ozaki
Journal:  Sci Rep       Date:  2013       Impact factor: 4.379

7.  Characterization of the heart transcriptome of the white shark (Carcharodon carcharias).

Authors:  Vincent P Richards; Haruo Suzuki; Michael J Stanhope; Mahmood S Shivji
Journal:  BMC Genomics       Date:  2013-10-11       Impact factor: 3.969

  7 in total

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