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   Articles with "variants human" as a keyword



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Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications

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recommendations! Published in 2017 at "Human Mutation"

DOI: 10.1002/humu.23163

Abstract: Single‐nucleotide variants (SNVs) are the most frequent genetic changes found in human cancer. Most driver alterations are missense and nonsense variants localized in the coding region of cancer genes. Unbiased cancer genome sequencing shows that… read more here.

Keywords: cancer infamous; human cancer; somatic variants; synonymous somatic ... See more keywords
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TET2 missense variants in human neoplasia. A proposal of structural and functional classification

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recommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.772

Abstract: The human TET2 gene plays a pivotal role in the epigenetic regulation of normal and malignant hematopoiesis. Somatic TET2 mutations have been repeatedly identified in age‐related clonal hematopoiesis and in myeloid neoplasms ranging from acute… read more here.

Keywords: missense variants; tet2; structural functional; variants human ... See more keywords
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Incompatibilities between common mtDNA variants in human disease

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recommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2217452119

Abstract: Mitochondria are the powerhouses of cells and play important roles in development and health. Besides producing adenosine triphosphate (ATP), mitochondria are also responsible for a number of diverse cellular activities, including reactive oxygen species (ROS)… read more here.

Keywords: human disease; common mtdna; variants human; mitochondrial diseases ... See more keywords
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MutaFrame - an interpretative visualization framework for deleteriousness prediction of missense variants in the human exome.

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recommendations! Published in 2021 at "Bioinformatics"

DOI: 10.1093/bioinformatics/btab453

Abstract: MOTIVATION High-throughput experiments are generating ever increasing amounts of various -omics data, so shedding new light on the link between human disorders, their genetic causes, and the related impact on protein behavior and structure. While… read more here.

Keywords: deleteriousness prediction; mutaframe; human exome; variants human ... See more keywords
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Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.

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recommendations! Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac070

Abstract: The Roundabout (Robo) receptors, located on growth cones of neurons, induce axon repulsion in response to the extracellular ligand Slit. The Robo family of proteins controls midline crossing of commissural neurons during development in flies.… read more here.

Keywords: human robo1; robo1; t2a gal4; variants human ... See more keywords
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Deciphering the Impact of Mutations on the Binding Efficacy of SARS-CoV-2 Omicron and Delta Variants With Human ACE2 Receptor

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recommendations! Published in 2022 at "Frontiers in Chemistry"

DOI: 10.3389/fchem.2022.892093

Abstract: The pandemic of COVID-19, caused by SARS-CoV-2, has globally affected the human health and economy. Since the emergence of the novel coronavirus SARS-CoV-2, the life-threatening virus continues to mutate and evolve. Irrespective of acquired natural… read more here.

Keywords: variants human; ace2 receptor; efficacy; human ace2 ... See more keywords
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The Location of Missense Variants in the Human GIP Gene Is Indicative for Natural Selection

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recommendations! Published in 2022 at "Frontiers in Endocrinology"

DOI: 10.3389/fendo.2022.891586

Abstract: The intestinal hormone, glucose-dependent insulinotropic polypeptide (GIP), is involved in important physiological functions, including postprandial blood glucose homeostasis, bone remodeling, and lipid metabolism. While mutations leading to physiological changes can be identified in large-scale sequencing,… read more here.

Keywords: gip peptide; variants human; gip; human gip ... See more keywords