T56 Studies Of Alcohol Related Phenotypes Across Human, Mouse And Invertebrate Models
Sign Up to like & getrecommendations! Published in 2017 at "European Neuropsychopharmacology"
DOI: 10.1016/j.euroneuro.2016.09.544
Abstract: Background Genetic influences on alcohol dependence (AD) have been well established, with the heritability of AD as estimated in behavioral genetic studies ranging from 50-60%. However, robust genetic association signals in human studies of AD… read more here.
Keywords: human samples; alcohol related; related phenotypes; association ... See more keywords
Dosage Counts: Correcting Trisomy-21-Related Phenotypes in Human Organoids and Xenografts.
Sign Up to like & getrecommendations! Published in 2019 at "Cell stem cell"
DOI: 10.1016/j.stem.2019.05.009
Abstract: Studies in mice suggest that Olig2 gene dosage alters cerebral cortical interneuron development and contributes to trisomy-21/Down-syndrome-related intellectual disability. Xu et al. (2019) extend these studies through the remarkable use of cerebral organoid and human iPSC/mouse… read more here.
Keywords: trisomy related; correcting trisomy; related phenotypes; dosage counts ... See more keywords
PUFA status at birth and allergy-related phenotypes in childhood: a pooled analysis of the Maastricht Essential Fatty Acid Birth (MEFAB) and RHEA birth cohorts
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Nutrition"
DOI: 10.1017/s0007114517003348
Abstract: Abstract Lower prenatal exposure to n-3 PUFA relative to n-6 PUFA has been hypothesised to influence allergy development, but evidence remains largely inconsistent. In the Dutch Maastricht Essential Fatty Acid Birth (MEFAB) (n 293) and… read more here.
Keywords: pufa; related phenotypes; birth; fatty acid ... See more keywords
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0007-7
Abstract: PurposeTo examine the impact of a targeted exome approach for the molecular diagnosis of patients nationwide with a wide range of ataxia-related phenotypes.MethodsOne hundred and seventy patients with ataxia of unknown etiology referred from clinics… read more here.
Keywords: range ataxia; analysis; related phenotypes; ataxia related ... See more keywords
Revisiting TOP2B-related phenotypes: Three new cases and literature review.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14341
Abstract: DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes… read more here.
Keywords: revisiting top2b; phenotypes three; three new; top2b related ... See more keywords
Deletion of Pofut1 in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in cis and in trans
Sign Up to like & getrecommendations! Published in 2017 at "Molecular and Cellular Biology"
DOI: 10.1128/mcb.00426-16
Abstract: ABSTRACT Sarcopenia, the loss of muscle mass and strength during normal aging, involves coordinate changes in skeletal myofibers and the cells that contact them, including satellite cells and motor neurons. Here we show that the… read more here.
Keywords: skeletal myofibers; muscle; related phenotypes; aging related ... See more keywords
Genetic polymorphisms associated with sleep-related phenotypes; relationships with individual nocturnal symptoms of insomnia in the HUNT study
Sign Up to like & getrecommendations! Published in 2019 at "BMC Medical Genetics"
DOI: 10.1186/s12881-019-0916-6
Abstract: BackgroundIn recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia are not known. The aim of this… read more here.
Keywords: hunt study; related phenotypes; sleep related; associated sleep ... See more keywords
Rare variants in the endocytic pathway are associated with Alzheimer’s disease, its related phenotypes, and functional consequences
Sign Up to like & getrecommendations! Published in 2021 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009772
Abstract: Late-onset Alzheimer’s disease (LOAD) is the most common type of dementia causing irreversible brain damage to the elderly and presents a major public health challenge. Clinical research and genome-wide association studies have suggested a potential… read more here.
Keywords: endocytic pathway; alzheimer disease; related phenotypes; rare variants ... See more keywords
Fibrinogen and clot-related phenotypes determined by fibrinogen polymorphisms: Independent and IL-6-interactive associations
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DOI: 10.1371/journal.pone.0187712
Abstract: Interleukin-6 (IL-6) induces the expression of fibrinogen, and polymorphic variation within the fibrinogen genes is believed to alter the magnitude of this expression. The identification of the functional relevance of individual fibrinogen single nucleotide polymorphisms… read more here.
Keywords: clot; fibrinogen clot; fibrinogen; fibrinogen concentrations ... See more keywords
Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings
Sign Up to like & getrecommendations! Published in 2021 at "Genes"
DOI: 10.3390/genes12101482
Abstract: Suicide in Bipolar Disorder (BD) is a relevant clinical concern. Genetics may shape the individual risk for suicide behavior in BD, together with known clinical factors. The lack of consistent replication in BD may be… read more here.
Keywords: suicide related; related phenotypes; genetic underpinnings; phenotypes bipolar ... See more keywords
Opposite Genetic Effects of CMIP Polymorphisms on the Risk of Type 2 Diabetes and Obesity: A Family-Based Study in China
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms19041011
Abstract: C-Maf Inducing Protein (CMIP) gene polymorphisms were reported to be associated with type 2 diabetes mellitus (T2DM). Whether the association between CMIP and T2DM is mediated via obesity-related phenotypes is still unclear. We analyzed the… read more here.
Keywords: t2dm; type diabetes; related phenotypes; obesity related ... See more keywords