Results 11 to 20 of about 26,757 (246)

Epigenetics and triplet repeat neurological diseases [PDF]

open access: yesFrontiers in Neurology, 2015
The term ‘junk DNA’ has been reconsidered following the delineation of the functional significance of repetitive DNA regions. Typically associated with centromeres and telomeres, DNA repeats are found in nearly all organisms throughout their genomes ...
Sathiji eNageshwaran   +1 more
doaj   +4 more sources

Trinucleotide repeats and neuropsychiatric disorders [PDF]

open access: greenIndian Journal of Clinical Biochemistry, 2000
Expansions of trinucleotide repeats at the level of genomic DNA are increasingly recognized as a cause of a number of neuropsychiatric disorders. Triplet repeat disorders are commonly classified into two groups, those with moderate CAG expansions that result in a polyglutamine stretch in the gene products and those with very long expansions, usually ...
K. Taranath Shetty, Rita Christopher
openalex   +4 more sources

Trinucleotide Repeat Protocols [PDF]

open access: green, 2004
Part I. Introduction Mouse Models of Triplet Repeat Diseases Gillian P. Bates and David G. Hay Part II. Analysis of Triplet Repeat DNAs and RNAs Analysis of Triplet Repeat Replication by Two-Dimensional Gel Electrophoresis Maria M. Krasilnikova and Sergei M. Mirkin Genetic Analysis for Triplet Repeat Instability in Yeast Michael J.
Yoshinori Kohwi
openalex   +3 more sources

Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues [PDF]

open access: yes, 2012
Copyright @ 2012 Bourn et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source ...
Chiranjeevi Sandi   +7 more
core   +6 more sources

DNA methylation and trinucleotide repeat expansion diseases [PDF]

open access: yes, 2012
Copyright @ 2012 InTechThis article has been made available through the Brunel Open Access Publishing Fund.This article is made available through the Brunel Open Access Publishing ...
Pook, M
core   +2 more sources

Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion

open access: yesBrain Sciences, 2023
Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC.
Yusran Ady Fitrah   +24 more
doaj   +1 more source

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy. [PDF]

open access: yesPLoS ONE, 2012
Fuchs endothelial corneal dystrophy (FECD) is a common, familial disease of the corneal endothelium and is the leading indication for corneal transplantation.
Eric D Wieben   +6 more
doaj   +1 more source

Evaluation of CAG repeat length in the androgen receptor gene and polycystic ovary syndrome risk in Iranian women: A case-control study

open access: yesInternational Journal of Reproductive BioMedicine, 2022
Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, which affects about 15-20% of women of reproductive age. The most important etiopathogenesis factor in its incidence is hyperandrogenism; over 70 candidate genes are known to be ...
Hamideh Arasteh   +7 more
doaj   +1 more source

p53 Binds Preferentially to Non-B DNA Structures Formed by the Pyrimidine-Rich Strands of GAA·TTC Trinucleotide Repeats Associated with Friedreich's Ataxia. [PDF]

open access: yesMolecules, 2019
Expansions of trinucleotide repeats (TNRs) are associated with genetic disorders such as Friedreich’s ataxia. The tumor suppressor p53 is a central regulator of cell fate in response to different types of insults.
Helma R   +11 more
europepmc   +3 more sources

The CAG trinucleotide repeat length in the androgen receptor does not predict the early onset of prostate cancer [PDF]

open access: yes, 2002
Objective To relate the repeat length of the androgen-receptor CAG trinucleotide to the age of onset of prostate cancer, stage and grade of disease. Patients and methods After obtaining ethical approval, 265 patients with locally confined or locally ...
Bartlett, J.M.S.   +5 more
core   +1 more source

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