Results 91 to 100 of about 39,855 (249)
New insight into genetic disease : the role of trinucleotide repeat expansions [PDF]
, 1995 The development of genetics in the last few decades is replete with surprise phenomena and new findings. One such phenomenon is the trinucleotide repeat expansion, a new type of mutation first discovered in 1991.
Cuschieri, Alfred
core
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1 [PDF]
, 2000 The genetic basis of myotonic dystrophy type 1 (DM1) is the expansion of a CTG repeat in the 3' untranslated region of DM1PK . Once into the disease range, the repeat becomes highly unstable and is biased toward expansion in both somatic and germline ...
Baiget, M. +3 more
core +1 more source
Phenotypic Heterogeneity in Genetic and Acquired Pediatric Cerebellar Disorders
Movement Disorders, EarlyView.Abstract Background The genetic landscape of pediatric cerebellar disorders (PCDs) in Finland is undefined. Objectives The objective was to define epidemiological, clinical, neuroradiological, and genetic characteristics of PCDs in Northern Finland.
Katariina Granath +17 more
wiley +1 more source
Neurobiology of Disease, 1995 Genetic factors are of major aetiological importance in Bipolar Affective Disorder (BPAD type I and II). The exact mode of inheritance of BPAD is unknown, but the recent demonstration of anticipation suggests that dynamic mutations could be involved in ...
Kerstin Lindblad +12 more
doaj
The differential diagnosis of chorea [PDF]
, 2007 Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core +1 more source
Plant Species Biology, EarlyView.We utilized 10 microsatellite loci to examine the genetic diversity, genetic structure, and demographic history of Zamia decumbens Calonje, Meerman, M.P. Griff. & Hoese, an endangered cycad species occurring in small disjunct populations on karst topography within the Maya Mountains of Belize.
Michael Calonje +4 more
wiley +1 more source
R-loops promote trinucleotide repeat deletion through DNA base excision repair enzymatic activities
Journal of Biological Chemistry, 2020 Trinucleotide repeat (TNR) expansion and deletion are responsible for over 40 neurodegenerative diseases and associated with cancer. TNRs can undergo somatic instability that is mediated by DNA damage and repair and gene transcription.
Eduardo E. Laverde +5 more
semanticscholar +1 more source
RepeatOBserver: Tandem Repeat Visualisation and Putative Centromere Detection
Molecular Ecology Resources, EarlyView.ABSTRACT Tandem repeats play an important role in centromere structure, subtelomeric regions, DNA methylation, recombination and the regulation of gene activity. Analysis of their distribution in genomes offers a potential means for predicting putative centromere locations, which continues to be a challenge for genome annotation.
Cassandra Elphinstone +3 more
wiley +1 more source
Possible Involvement of the RNAi Pathway in Trinucleotide Repeat Expansion Diseases [PDF]
Journal of Biomolecular Structure and Dynamics, 2005 A new molecular mechanism of trinucleotide expansion diseases is suggested. The mechanism involves the formation of double-helical RNA hairpins by transcripts carrying (CNG)(n) sequences, which are processed via the RNAi pathway with subsequent RNA silencing of genes containing (CNG)(n) sequences.
openaire +3 more sources
Neurobiology of Disease, 2022 Dentatorubral–pallidoluysian atrophy (DRPLA) is a devastating genetic disease presenting myoclonus, epilepsy, ataxia, and dementia. DRPLA is caused by the expansion of a CAG repeat in the ATN1 gene.
Yuhei Hasuike +8 more
doaj