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Analysis of Triplet Repeat Disorders (A Volume in the Human Molecular Genetics Series) (Human Molecular Genetics)

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Published by Academic Press .
Written in English


Book details:

Edition Notes

ContributionsD. C. Rubinsztein (Editor), M. R. Hayden (Editor)
The Physical Object
Number of Pages352
ID Numbers
Open LibraryOL7326528M
ISBN 10012220431X
ISBN 109780122204319

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Get this from a library! Analysis of triplet repeat disorders. [D C Rubinsztein; Michael R Hayden;] -- The clinical picture of diseases, caused by trinucleotide repeats, such as fragile X syndrome, myotonic dystrophy, Huntington's disease and forms of spinocerebella ataxia, provide the starting point.   Purchase Analysis of Triplet Repeat Disorders - 1st Edition. Print Book & E-Book. ISBN , Book Edition: 1. Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or psychiatric disturbances. Trinucleotide repeat disorders are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation in which repeats of three nucleotides (trinucleotide repeats) increase in copy numbers until they cross a threshold above which they become unstable. Depending on where it is located, the unstable trinucleotide repeat may cause defects in a protein encoded by a gene Other names: Trinucleotide repeat expansion disorders, Triplet repeat expansion disorders or Codon reiteration disorders.

COVID Resources. Reliable information about the coronavirus (COVID) is available from the World Health Organization (current situation, international travel).Numerous and frequently-updated resource results are available from this ’s WebJunction has pulled together information and resources to assist library staff as they consider how to handle coronavirus.   Book review; Published: May Analysis of triplet repeat disorders: D. C. Rubinsztein and M. R. Hayden (Editors) BIOS Scientific Publishers ( pages), ISBN 1 Author: Jamal Nasir. The discovery that trinucleotide repeats significantly influence the age of onset and severity of a variety of hereditary neurological disorders has opened the door to a deeper understanding of the disease mechanisms involved, as well as to a more productive search for novel therapeutic interventions. Epigenetic alterations and triplet repeat expansion disorders Triplet repeats are the type of epigenetic alteration in which the polymorphism is caused by the change in gene expression rather than.

W.F.A. Den Dunnen, in Handbook of Clinical Neurology, Abstract. Trinucleotide repeat disorders comprise a variable group of inherited neurodegenerative diseases, with a large range in prevalence figures. There is a broad range in clinical presentations, but many of these diseases lead to some form of ataxia or other movement disorders, which are frequently combined with cognitive or. Trinucleotide repeat disorders are a set of genetic disorders characterized by the expansion of certain genes of a segment of DNA that contains a repeat of three nucleotides, thus exceeding the. Description. Developer of biotherapeutic compounds designed to treat repeat expansion disorders. The company's biotherapeutics technology is developing a fundamentally different treatment for repeat expansion disorders including Huntington's disease, myotonic dystrophy, and spinocerebellar ataxias by addressing the underlying cause of the genetic dysfunction that drives disease onset and. @article{osti_, title = {Analysis of thirteen trinucleotide repeat loci as candidate genes for Schizophrenia and bipolar affective disorder}, author = {Jain, S and Leggo, J and Ferguson-Smith, M A and Rubinsztein, D C}, abstractNote = {A group of diseases are due to abnormal expansions of trinucleotide repeats. These diseases all affect the nervous system.