Literature DB >> 7805257

Unstable triplet repeat diseases.

D G Monckton1, C T Caskey.   

Abstract

Seven inherited human disorders are now associated with the intragenic expansion of triplet repeat DNA sequences. These repeats demonstrate extreme instability in both germline and somatic tissue, accounting for the unusual genetic inheritance patterns and symptom variability associated with these diseases.

Entities:  

Mesh：

Year:  1995        PMID： 7805257     DOI： 10.1161/01.cir.91.2.513

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


  12 in total

1.  Modeling Huntington's disease in cells, flies, and mice.

Authors:  S Sipione; E Cattaneo
Journal:  Mol Neurobiol       Date:  2001-02       Impact factor: 5.590

2.  Identification of novel intronic BRCA1 variants of uncertain significance in a Thai hereditary breast cancer family.

Authors:  Adisorn Ratanaphan; Pornpen Panomwan; Bhutorn Canyuk; Tanaphon Maipang
Journal:  J Genet       Date:  2011-08       Impact factor: 1.166

3.  Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study.

Authors:  J E Nielsen; K Krabbe; P Jennum; P Koefoed; L N Jensen; K Fenger; H Eiberg; L Hasholt; L Werdelin; S A Sørensen
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-01       Impact factor: 10.154

Review 4.  Repeat instability during DNA repair: Insights from model systems.

Authors:  Karen Usdin; Nealia C M House; Catherine H Freudenreich
Journal:  Crit Rev Biochem Mol Biol       Date:  2015-01-22       Impact factor: 8.250

Review 5.  Anticipation and CAG*CTG repeat expansion in schizophrenia and bipolar affective disorder.

Authors:  M Teresa Fortune; James L Kennedy; John B Vincent
Journal:  Curr Psychiatry Rep       Date:  2003-06       Impact factor: 5.285

6.  DNA sequence analysis of Sry alleles (subgenus Mus) implicates misregulation as the cause of C57BL/6J-Y(POS) sex reversal and defines the SRY functional unit.

Authors:  K H Albrecht; E M Eicher
Journal:  Genetics       Date:  1997-11       Impact factor: 4.562

7.  Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.

Authors:  Shivakumar Vasanth; Allen O Eghrari; Briana C Gapsis; Jiangxia Wang; Nicolas F Haller; Walter J Stark; Nicholas Katsanis; S Amer Riazuddin; John D Gottsch
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-07       Impact factor: 4.799

8.  Inherited predisposition to multiple myeloma.

Authors:  Divya T Koura; Amelia A Langston
Journal:  Ther Adv Hematol       Date:  2013-08

9.  In vivo assessment of muscle membrane properties in myotonic dystrophy.

Authors:  S Veronica Tan; Werner J Z'graggen; Delphine Boërio; Christopher Turner; Michael G Hanna; Hugh Bostock
Journal:  Muscle Nerve       Date:  2016-05-24       Impact factor: 3.217

10.  Microhomology-mediated DNA strand annealing and elongation by human DNA polymerases λ and β on normal and repetitive DNA sequences.

Authors:  Emmanuele Crespan; Tibor Czabany; Giovanni Maga; Ulrich Hübscher
Journal:  Nucleic Acids Res       Date:  2012-02-28       Impact factor: 16.971
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