Results 81 to 90 of about 314,978 (365)

No Genetic Causal Association Between Periodontitis and Arthritis: A Bidirectional Two-Sample Mendelian Randomization Analysis [PDF]

open access: gold, 2022
Kang-Jia Yin   +7 more
openalex   +1 more source

Key mendelian variants [PDF]

open access: yesNature Genetics, 2015
Genetic comparison of the effects of mutant and wild-type alleles is a powerful way to define gene function. But those few disease-causing variants that provide qualitatively different insights into the disease mechanisms of more common sporadic diseases have the greatest translational value.
openaire   +2 more sources

Development of Age‐ and Sex‐Specific Metabolomics‐Based Biological Ageing Clocks for 10‐Year Mortality Prediction

open access: yesAdvanced Science, EarlyView.
Metabolomics‐based ageing clocks developed using blood biomarkers from over 215 000 European adults, improved the prediction of 10‐year all‐cause mortality compared to traditional models. Biological age acceleration is associated with higher mortality risk, as each additional year of metabolic age corresponded to at least 8% increased risk. These tools
Lei Peng   +4 more
wiley   +1 more source

Identification and analyses of exonic and copy number variants in spastic paraplegia

open access: yesScientific Reports
Hereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurological features.
Anum Shafique   +8 more
doaj   +1 more source

Evaluating the potential role of pleiotropy in Mendelian randomization studies

open access: yesHuman Molecular Genetics, 2018
Pleiotropy, the phenomenon of a single genetic variant influencing multiple traits, is likely widespread in the human genome. If pleiotropy arises because the single nucleotide polymorphism (SNP) influences one trait, which in turn influences another ...
G. Hemani, J. Bowden, G. Davey Smith
semanticscholar   +1 more source

Mendelian randomization analyses explore the relationship between cathepsins and lung cancer

open access: yesCommunications Biology, 2023
A Mendelian randomization analysis identifies a potential causal link between cathepsin H and lung cancer risk. Lung cancer, a major contributor to cancer-related fatalities worldwide, involves a complex pathogenesis.
Jialin Li   +4 more
semanticscholar   +1 more source

Clarifying Mendelian vs non-Mendelian inheritance

open access: yesGENETICS
Abstract Gregor Mendel developed the principles of segregation and independent assortment in the mid-1800s based on his detailed analysis of several traits in pea plants. Those principles, now called Mendel's laws, in fact, explain the behavior of genes and alleles during meiosis and are now understood to underlie “Mendelian inheritance”
Susan Strome   +4 more
openaire   +4 more sources

ACSL5 Regulates Glucose Metabolism and Chemotherapy Sensitivity in Colorectal Cancer Cells under Glutamine Deficiency

open access: yesAdvanced Science, EarlyView.
Glutamine deprivation triggers ACSL5 upregulation in tumor cells, sustaining their viability via dual metabolic rewiring programs. ACSL5 enhances glycolysis by relieving p53's inhibition of PGAM1 while also sustaining mitochondrial respiration and TCA cycle flux through promoting IDH2 dimerization.
Shuai Tian   +11 more
wiley   +1 more source

Study on the causal relationship between educational attainment and delirium: A two-sample Mendelian randomization study

open access: yesHeliyon
This study aimed to investigate whether there is a causal relationship between educational attainment and delirium at the genetic level using the Mendelian randomization method, and provide new evidence for studies in this field.
Xianjie Wan   +9 more
doaj   +1 more source

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy

open access: yesAdvanced Science, EarlyView.
REEP1 contributes to endoplasmic reticulum (ER) shaping. Variants either cause cortical motoneuron degeneration and hereditary spastic paraplegia (HSP) or spinal motoneuron degeneration and distal hereditary motor neuropathy (dHMN). Knockout causes less complex ER structures and cortical motoneuron loss.
Andrea Bock   +25 more
wiley   +1 more source

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