Results 61 to 70 of about 10,200 (202)

Detection of expanded CAG repeats in Bipolar Affective Disorder using the repeat expansion detection (RED) method

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, Per-Olof Nylander, An De bruyn, Daniel Sourey, Cecilia Zander, Christer Engström, Gösta Holmgren, Tom Hudson, Jayanti Chotai, Julien Mendlewicz, Christine Van Broeckhoven, Martin Schalling, Rolf Adolfsson   +12 more
doaj  

Expandable DNA Repeat and Human Hereditary Disorders [PDF]

Journal of Kerman University of Medical Sciences, 2016
Background & Aims: Nearly 30 hereditary disorders in humans result from an increase in the number of copies of simple repeats in genomic DNA, including fragile X syndrome, myotonic dystrophy, Huntington’s disease, and Friedreich’s ataxia.
Shahin Ramazi, Ali Fasihi, Maryam Godarziyan, Morteza Hashemzadeh-Chaleshtori   +3 more
doaj  

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, Rob Elphinstone, Marco Todesco, Loren H. Rieseberg   +3 more
wiley   +1 more source

Cannabidiol attenuates epileptic phenotype and increases survival in a mouse model of developmental and epileptic encephalopathy type 1

Epilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy type 1 (DEE1) is a rare drug‐resistant pediatric epilepsy caused by trinucleotide repeat expansions in the X‐linked ARX gene, leading to elongation of the first polyalanine tract. It presents with early onset tonic seizures or spasms, developmental and cognition delay, and high risk of ...
Lucia Verrillo, Fabio Arturo Iannotti, Denise Drongitis, Katiuscia Martinello, Loredana Poeta, Adriano Barra, Gaetano Terrone, Sergio Fucile, Vincenzo Di Marzo, Maria Giuseppina Miano   +9 more
wiley   +1 more source

CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral–pallidoluysian atrophy

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, Hana Tanaka, Terence Gall-Duncan, Mustafa Mehkary, Kazuhiko Nakatani, Christopher E. Pearson, Shoji Tsuji, Hideki Mochizuki, Masayuki Nakamori   +8 more
doaj  

Expanded CAG/CTG repeat DNA induces a checkpoint response that impacts cell proliferation in Saccharomyces cerevisiae. [PDF]

PLoS Genetics, 2011
Repetitive DNA elements are mutational hotspots in the genome, and their instability is linked to various neurological disorders and cancers. Although it is known that expanded trinucleotide repeats can interfere with DNA replication and repair, the ...
Rangapriya Sundararajan, Catherine H Freudenreich   +1 more
doaj   +1 more source

Solitary oil‐collecting bee in cities: Habitat suitability and lack of population structuring in Centris analis

Insect Conservation and Diversity, EarlyView.
Lack of genetic population structure in urban populations of Centris analis. Low morphological differentiation across four phytogeographical regions in Brazil. Monogyny‐monandry mating system in C. analis. Abstract The decline of insect populations worldwide has raised concerns about the negative impact on ecosystem services, particularly pollination ...
Leandro Pereira Rezende, Cintia Akemi Oi, Katia Maria Ferreira, Isabel Cristina de Godoy, Marco Antonio Del Lama   +4 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

Telomere‐to‐telomere genome assembly of linseed (Linum usitatissimum L.) for functional genomics and accelerated genetic improvement

Plant Biotechnology Journal, EarlyView.
Summary Linseed (Linum usitatissimum L.), a member of the Linaceae family, is a versatile crop valued for its oil, fibre, nutritional and medicinal applications. Recognized as a superfood, linseed is rich in omega‐3 fatty acid (~55%), lignans, high‐quality proteins, dietary fibre and bioactive secondary metabolites.
Hemant Kumar Yadav, Neha Singh, Babita Singh, Vikender Kaur, Samir V. Sawant   +4 more
wiley   +1 more source

Should we perform systematic electrophysiological study in Steinert's disease?

Journal of Cardiothoracic Surgery, 2008
Myotonic dystrophy type 1 (Steinert's disease) is a multisystem disorder with autosomal dominant inheritance. This disease is associated with the presence of an abnormal expansion of a cytosine thymine-guanine (CTG) trinucleotide repeat on chromosome ...
Fayssoil Abdallah
doaj   +1 more source