Results 71 to 80 of about 33,292 (260)
Paradoxical delay in the onset of disease caused by super-long CAG repeat expansions in R6/2 mice
Neurobiology of Disease, 2009 Huntington's disease (HD) is caused by an expanded CAG repeat in the HD gene. The pathological threshold for expansion in HD is around 36 CAG repeats, although ‘super-long’ expansions are found in brains of HD patients.
A Jennifer Morton +6 more
doaj +1 more source
Advanced Science, EarlyView.In MYC‐enforced B‐cell lymphoma, SOX5 occupies promoter‐proximal regulatory regions and is associated with reduced chromatin accessibility at the PCNP locus. PCNP repression promotes proliferative remodeling by limiting apoptosis and cell‐cycle restraint.
Yiyou Mao +6 more
wiley +1 more source
The International Journal of Biological Markers, 2015 Purpose The influence of the androgen receptor (AR) CAG repeat polymorphism on breast cancer is controversial. We investigated the combined effects of CAG repeat length and estrogen receptor (ER) status on prognosis in 355 postmenopausal women with ...
Patrizia Cogliati +8 more
doaj +1 more source
Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients
Arquivos de Neuro-Psiquiatria, 2011 Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum
S T Camargos, W Marques-Jr, A C Santos
doaj +1 more source
Therapeutic Gene Editing of APOE4 in Sporadic Alzheimer's Disease via Prime Editor 7
Advanced Science, EarlyView.Prime Editor 7‐mediated conversion of APOE4 to APOE3 alleviates Alzheimer's disease‐associated pathology in AD mouse models and patient‐derived neurons and improves cognitive performance in vivo, supporting therapeutic genome editing as a promising strategy for APOE4‐associated neurodegeneration.
Yunkyung Kim +16 more
wiley +1 more source
Advanced Science, EarlyView.NSD2 coordinates the neurogenic‐to‐gliogenic transition in the developing neocortex through H3K36me2‐dependent activation of EGFR–ERK signaling. Loss of NSD2 disrupts astroglial and oligodendroglial development, whereas ERK activation rescues gliogenic defects in vitro and in vivo.
Hanxue Chen +7 more
wiley +1 more source
Advanced Science, EarlyView.Resolution pharmacology is an emerging strategy to tackle inflammatory pathologies. Bioinspired meroterpenoids induce a lipid mediator class switch toward inflammation resolution in vitro and in vivo by targeting key nodes in lipid mediator biosynthesis and neutral lipid dynamics.
Lorenz Waltl +20 more
wiley +1 more source
Attenuated huntingtin gene CAG nucleotide repeat size in individuals with Lynch syndrome
Scientific ReportsDNA mismatch repair (MMR) is thought to contribute to the onset and progression of Huntington disease (HD) by promoting somatic expansion of the pathogenic CAG nucleotide repeat in the huntingtin gene (HTT).
Karin Dalene Skarping +4 more
doaj +1 more source
Advanced Science, EarlyView.Endothelial miR‐15a/16‐1 deletion promotes long‐term recovery after traumatic brain injury by restoring SYNE1 expression. Enhanced endothelial SYNE1 preserves vascular integrity, protects white and gray matter, and improves neurological function. The endothelial miR‐15a/16‐1–SYNE1 axis emerges as a key regulator of neurovascular repair and a potential ...
Shun Li +17 more
wiley +1 more source
Cell ReportsSummary: Somatic CAG instability in the mutant Huntingtin (HTT) gene is increasingly recognized as a key hallmark of Huntington’s disease (HD). Using our novel human CAGinSTEM platform, we manipulated cis genetic elements influencing instability in human
Martina Zobel +23 more
doaj +1 more source