Literature DB >> 7988670

Heritable trinucleotide repeats and neurological disorders.

B S Shastry1.   

Abstract

In the past 3 years, seven human neurological disorders have been found to be associated with an abnormal number of unstable trinucleotide repeats within exons or non-expressed regions of a gene. These forms of mutations are called dynamic mutations. The expansion in copy number of trinucleotide repeats may represent a large number of hereditary disorders. The correlation between the length of the repeated size and the disease severity and variable onset has provided some genetic explanation for a phenomenon called anticipation. However, there are numerous questions which cannot be explained by anticipation. Many other factors such as genomic imprinting and variable DNA methylation may also contribute to the puzzling features of these phenotypes.

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Year:  1994        PMID: 7988670     DOI: 10.1007/BF01923467

Source DB:  PubMed          Journal:  Experientia        ISSN: 0014-4754


  62 in total

1.  Slippage synthesis of simple sequence DNA.

Authors:  C Schlötterer; D Tautz
Journal:  Nucleic Acids Res       Date:  1992-01-25       Impact factor: 16.971

2.  Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Authors:  G K Suthers; J C Mulley; M A Voelckel; N Dahl; M L Väisänen; P Steinbach; I A Glass; C E Schwartz; B A van Oost; S N Thibodeau
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

Review 3.  Genes for normal and diseased mental states.

Authors:  F Ashall
Journal:  Trends Genet       Date:  1994-02       Impact factor: 11.639

4.  Nucleotide repeats. Slippery DNA and diseases.

Authors:  T A Kunkel
Journal:  Nature       Date:  1993-09-16       Impact factor: 49.962

5.  Trinucleotide repeat repeat repeat.

Authors:  P J Morrison
Journal:  Lancet       Date:  1993-08-14       Impact factor: 79.321

6.  Molecular analysis and clinical correlations of the Huntington's disease mutation.

Authors:  J C MacMillan; R G Snell; A Tyler; G D Houlihan; I Fenton; J P Cheadle; L P Lazarou; D J Shaw; P S Harper
Journal:  Lancet       Date:  1993-10-16       Impact factor: 79.321

7.  Transcriptional activation modulated by homopolymeric glutamine and proline stretches.

Authors:  H P Gerber; K Seipel; O Georgiev; M Höfferer; M Hug; S Rusconi; W Schaffner
Journal:  Science       Date:  1994-02-11       Impact factor: 47.728

8.  Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Authors:  S Nagafuchi; H Yanagisawa; K Sato; T Shirayama; E Ohsaki; M Bundo; T Takeda; K Tadokoro; I Kondo; N Murayama
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

9.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

10.  Huntington's disease gene (IT15) is widely expressed in human and rat tissues.

Authors:  S H Li; G Schilling; W S Young; X J Li; R L Margolis; O C Stine; M V Wagster; M H Abbott; M L Franz; N G Ranen
Journal:  Neuron       Date:  1993-11       Impact factor: 17.173

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  1 in total

1.  Telomere dysfunction in human diseases: the long and short of it!

Authors:  Kathryn A Carroll; Hinh Ly
Journal:  Int J Clin Exp Pathol       Date:  2009-05-10
  1 in total

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