Results 101 to 110 of about 39,855 (249)

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

An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub‐Saharan Africa

Annals of Human Genetics, EarlyView.
Abstract Background Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South‐Africa specific to indigenous Africans.
Mendi J Muthinja, Carlos Othon Guelngar, Maouly Fall, Fatumah Jama, Huda Aldeen Shuja, Jamila Nambafu, Daniel Gams Massi, Oluwadamilola O. Ojo, Njideka U. Okubadejo, Funmilola Tolulope Taiwo, Alassane Mamadou Diop, Coudjou J. D. G. de Chacus, Fodé Abass Cissé, Amara Cissé, Juzar Hooker, Dilraj Sokhi, Henry Houlden, Mie Rizig   +17 more
wiley   +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

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

Simple Mathematical Model Of Pathologic Microsatellite Expansions: When Self-Reparation Does Not Work

, 2007
We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite ...
Amos, Angers, Barton, Bell, Boris Veytsman, Brinkmann, Brock, Brunner, Calabrese, Calabrese, Cleary, de Gennes, Di Rienzo, Ellegren, Ellegren, FitzSimmons, Garza, Goldstein, Gomes-Pereira, Harper, Harr, Huang, Kayser, Kruglyak, Kruglyak, Lai, Lai, Lai, Leila Akhmadeyeva, Libby, Makova, Mirkin, Monckton, Nielsen, Painter, Pearson, Pearson, Piñeiro, Primmer, Primmer, Schlötterer, Shinde, Shriver, Sibly, Sibly, Tachida, Whittaker, Xu, Yang   +48 more
core   +1 more source

Children With Fragile X Syndrome Display a Switch Towards Fast Fibres in Their Recruitment Strategy During Gait

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X Syndrome (FXS) is a genetic disorder caused by the lack of FMRP, a crucial protein for brain development and function. FMR1 mutations are categorized into premutation and full mutation (FXSFull), with somatic mosaicism (FXSMos) modulating the FXS phenotype.
Fabiola Spolaor, Federica Beghetti, Weronika Piatkowska, Annamaria Guiotto, Roberta Polli, Elisa Bettella, Valentina Liani, Elisa di Giorgio, Zimi Sawacha   +8 more
wiley   +1 more source

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model [PDF]

, 2012
Copyright @ 2012 Elsevier. The article can be accessed from the link below.This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a ...
Al-Mahdawi, S, Ezzatizadeh, V, Pinto, RM, Pook, MA, Sandi, C, Sandi, M, Te Riele, H   +6 more
core   +1 more source

Unprecedented Combination of Rare Degenerative Pathologies in an Octogenarian Ex‐Football Player

Neuropathology, EarlyView.
ABSTRACT A 79‐year‐old former professional football player presented with language deficits and cognitive changes. A year later, he had difficulty completing sentences, and 3 years after onset, was reduced to one‐word answers. He developed severe apathy and agitation, and became more impulsive.
Shelley L. Forrest, Nusrat Sadia, Mozhgan Khodadadi, Charles Tator, Robin Green, Maria Carmela Tartaglia, Gabor G. Kovacs   +6 more
wiley   +1 more source

Simple sequence repeats and their expansions: role in plant development, environmental response and adaptation

New Phytologist, EarlyView.
Summary Repetitive DNA is a feature of all organisms, ranging from archaea and plants to humans. DNA repeats can be seen both in coding and in noncoding regions of the genome. Due to the recurring nature of the sequences, simple DNA repeats tend to be more prone to errors during replication and repair, resulting in variability in their unit length ...
Sridevi Sureshkumar, Aaryan Chhabra, Ya‐Long Guo, Sureshkumar Balasubramanian   +3 more
wiley   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core