Results 31 to 40 of about 204,221 (349)

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

open access: yesHuman Molecular Genetics, 2020
The expanded HTT CAG repeat causing Huntington’s disease (HD) exhibits somatic expansion proposed to drive the rate of disease onset by eliciting a pathological process that ultimately claims vulnerable cells.
Ricardo Mouro Pinto   +23 more
semanticscholar   +1 more source

Slipped-CAG DNA binding small molecule induces trinucleotide repeat contractions in vivo

open access: yesNature Genetics, 2020
In many repeat diseases, such as Huntington’s disease (HD), ongoing repeat expansions in affected tissues contribute to disease onset, progression and severity.
M. Nakamori   +31 more
semanticscholar   +1 more source

Variation within the Huntington's disease gene influences normal brain structure. [PDF]

open access: yes, 2011
Genetics of the variability of normal and diseased brain structure largely remains to be elucidated. Expansions of certain trinucleotide repeats cause neurodegenerative disorders of which Huntington's disease constitutes the most common example. Here, we
Juliane Winkelmann   +40 more
core   +2 more sources

Four Chromosomal Type IV Secretion Systems in Helicobacter pylori: Composition, Structure and Function

open access: yesFrontiers in Microbiology, 2020
The pathogenic bacterium Helicobacter pylori is genetically highly diverse and a major risk factor for the development of peptic ulcer disease and gastric adenocarcinoma in humans. During evolution, H.
Wolfgang Fischer   +3 more
doaj   +1 more source

Selective suppression of polyglutamine-expanded protein by lipid nanoparticle-delivered siRNA targeting CAG expansions in the mouse CNS

open access: yesMolecular Therapy: Nucleic Acids, 2021
Polyglutamine (polyQ) diseases are inherited neurodegenerative disorders caused by expansion of cytosine-adenine-guanine (CAG)-trinucleotide repeats in causative genes.
Tomoki Hirunagi   +14 more
semanticscholar   +1 more source

A Small Trinucleotide Expansion in the TBP Gene Gives Rise to a Sporadic Case of SCA17 with Abnormal Putaminal Findings on MRI [PDF]

open access: yes, 2008
A Japanese woman developed gait disturbances at 25 years of age, and subsequently underwent gradual changes in her personality. By the age of 42, she showed clear signs of dementia and cerebellar ataxia, and displayed behavioral abnormalities, choreic ...
Suzuki, Chieko   +13 more
core   +1 more source

Management by geographic area or management specialised by disorder? A mixed-methods evaluation of the effects of an organisational intervention on secondary mental health care for common mental disorder [PDF]

open access: yes, 2016
In 2010, South London and Maudsley NHS Foundation Trust (SLaM) established a programme replacing the borough directorates responsible for adult mental health services with three Clinical Academic Groups (CAGs), each of which took on a subset of adult ...
Khondoker, Mizanur   +36 more
core   +1 more source

The COVID-19 Pandemic and Waste Management

open access: yesDüzce Tıp Fakültesi Dergisi, 2021
Waste management has been a great problem globally for at least five decades. Some of the developed countries could initiated certain processes to benefit from the waste.
İlhan Öztürk
doaj   +1 more source

To CAG or not to CAG? Difficulties in determining submission to the Confidentiality Advisory Group: a commentary [PDF]

open access: yesResearch Ethics, 2020
The Confidentiality Advisory Group (CAG) is a specialised body that advises the Health Research Authority (HRA) and the Secretary of State for Health on requests for access to confidential information, in the absence of informed consent from its owners.
V Ranieri, H Stynes, E Kennedy
openaire   +2 more sources

Helicobacter pylori type IV secretion apparatus exploits beta1 integrin in a novel RGD-independent manner. [PDF]

open access: yes, 2009
Translocation of the Helicobacter pylori (Hp) cytotoxin-associated gene A (CagA) effector protein via the cag-Type IV Secretion System (T4SS) into host cells is a major risk factor for severe gastric diseases, including gastric cancer.
Haas, Rainer   +42 more
core   +2 more sources

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