Results 71 to 80 of about 19,593 (221)
A universal mechanism ties genotype to phenotype in trinucleotide diseases.
PLoS Computational Biology, 2007 Trinucleotide hereditary diseases such as Huntington disease and Friedreich ataxia are cureless diseases associated with inheriting an abnormally large number of DNA trinucleotide repeats in a gene.
Shai Kaplan +2 more
doaj +1 more source
Stem Cell Research, 2018 A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A ...
Stefanie Nicole Hayer +5 more
doaj +1 more source
, 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 +48 more
core +1 more source
Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]
, 2014 Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J +2 more
core +1 more source
Advanced Science, EarlyView.This study successfully establishes adamantinomatous craniopharyngioma (ACP) patient‐derived organoids (PDOs) that preserve the histopathological and genetic features of the original tumors. Through drug sensitivity assays and subsequent mechanistic analyses, the study demonstrates that Ceritinib exerts its inhibitory effects on ACP PDO growth by ...
Huarong Zhang +15 more
wiley +1 more source
Advanced Science, EarlyView.This study designs a novel mRNA‐LNP vaccine targeting VZV glycoprotein E (gE) for herpes zoster via an AI‐assisted pipeline. Validated in mice and rhesus macaques, the mRNA‐LNP vaccine shows strong humoral and cellular immune responses, with CD4+ T‐cell responses more effective and durable than Shingrix, offering a promising prophylactic option ...
Kai Dong +6 more
wiley +1 more source
Diverse Mechanisms of Trinucleotide Repeat Disorders: An Exploration of Fragile X Syndrome and Huntington’s Disease [PDF]
, 2013 Trinucleotide repeat disorders are an umbrella group of genetic diseases that have been well described clinically for a long time; however, the scientific community is only beginning to understand their molecular basis.
Strobel, Cara
core +1 more source
Androgen receptor polymorphisms and testicular cancer risk [PDF]
, 2015 Testicular cancer (TC) is currently the most common malignant solid tumour in Caucasian males aged 15-39 years. Epidemiological evidence suggests that its onset may be due to an imbalance in the action of steroidal sex hormones and their receptors.
CARLINI, TANIA +9 more
core +1 more source
Advanced Science, EarlyView.Tumor evolution in lung adenocarcinoma is shaped by genetic alterations and spatial immune dynamics. By integrating whole‐exome sequencing, imaging mass cytometry, and spatial transcriptomics across two mouse models, this study reveals how mutational burden, immune infiltration, and cell–state interactions evolve during early and late carcinogenesis ...
Bo Zhu +34 more
wiley +1 more source
Transcription as a Threat to Genome Integrity [PDF]
, 2016 Genomes undergo different types of sporadic alterations, including DNA damage, point mutations, and genome rearrangements, that constitute the basis for evolution.
Aguilera López, Andrés +1 more
core +1 more source