Results 141 to 150 of about 456,399 (317)

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

open access: yesAging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

SVhawkeye: an ultra-fast software for user-friendly visualization of targeted structural fragments from BAM files

open access: yesFrontiers in Genetics
SVhawkeye is a novel visualization software created to rapidly extract essential structural information from third-generation sequencing data, such as data generated by PacBio or Oxford Nanopore Technologies.
Yuhui Xiao   +3 more
doaj   +1 more source

Genotyping-By-Sequencing applications in biology

open access: yes, 2017
Genotyping-by-Sequencing (GBS) is a method used to develop rapid and cost-effective high-density genetic marker data for diverse applications in biology.
Shannon Clarke (3504989)   +14 more
core  

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

SNP genotyping results from Intertek Sweden outsourcing service

open access: yes
Leaf discs were collected in the field and greenhouse and sent to Intertek Sweden for DNA extraction and SNP genotyping. 10 SNPs were evaluated on each sample.
Raatz, Bodo
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone   +8 more
wiley   +1 more source

Predictive genotype [PDF]

open access: yesCanadian Medical Association Journal, 2010
Shinya, Ito, Bruce C, Carleton
openaire   +2 more sources

A mass spectrometry-based multiplex SNP genotyping by utilizing allelespecific ligation and strand displacement amplification

open access: yes, 2017
We herein describe a new mass spectrometry-based method for multiplex SNP genotyping by utilizing allelespecific ligation and strand displacement amplification (SDA) reaction.
박현규   +6 more
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu   +21 more
wiley   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han   +8 more
wiley   +1 more source

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