Results 11 to 20 of about 11,828,008 (230)
Topologically Associating Domains and Regulatory Landscapes in Development, Evolution and Disease
Frontiers in Cell and Developmental Biology, 2021 Animal genomes are folded in topologically associating domains (TADs) that have been linked to the regulation of the genes they contain by constraining regulatory interactions between cis-regulatory elements and promoters. Therefore, TADs are proposed as
Juan J. Tena, José M. Santos-Pereira
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Management of genetic diseases: Present and future
Revista de la Facultad de Medicina Humana, 2021 Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms ...
Hugo Hernán Abarca Barriga +2 more
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Use of Zebrafish Models to Boost Research in Rare Genetic Diseases
International Journal of Molecular Sciences, 2021 Rare genetic diseases are a group of pathologies with often unmet clinical needs. Even if rare by a single genetic disease (from 1/2000 to 1/more than 1,000,000), the total number of patients concerned account for approximatively 400 million peoples ...
Lucie Crouzier +5 more
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Molecular Genetics & Genomic Medicine, 2023 Background Copy number variation sequencing (CNV‐seq) could detect most chromosomal abnormalities except polyploidy, and quantitative fluorescence polymerase chain reaction (QF‐PCR) is a supplementary method to CNV‐seq in triploid detection.
Quan Chen +7 more
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Case Report: Identification of Polygenic Mutations by Exome Sequencing
Frontiers in Pediatrics, 2021 The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G ...
Yanfeng Liu +2 more
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Health and Quality of Life Outcomes, 2020 Purpose The present study evaluated how heart failure (HF) negatively impacts health-related quality of life (HRQoL) in hypertrophic cardiomyopathy (HCM) patients and explored the major clinical determinants associated with HRQoL impairment in this ...
Razvan Capota +6 more
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Association of ABCC8 and KCNJ11 gene variants with type 1 diabetes in south Indians
Egyptian Journal of Medical Human Genetics, 2021 Background Type 1 diabetes mellitus (TIDM) is a polygenic disorder with the involvement of several genetic and environmental risk factors. Mutation in genes namely ABCC8 and KCNJ11 disrupt the potentiality of KATP channel and regulates the secretion of ...
Shilpa Reddy +7 more
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Assessing the knowledge and awareness of the Taif community about genetic diseases
Journal of Biochemical and Clinical Genetics, 2022 Background: Diseases have a genetic basis, wherein changes in the human deoxyribonucleic acid and variances in its activities, which the environment may influence, contribute to disease processes.
Ghaliah Alnefaie +6 more
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Journal of Biochemical and Clinical Genetics, 2021 Background: There is a high rate of consanguinity and related genetic diseases in the general population of Saudi Arabia. Studies have been conducted to address the level of awareness about consanguineous marriages (CM); however, targeted young female ...
Hadil Alahdal +7 more
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The third generation sequencing: the advanced approach to genetic diseases
Translational Pediatrics, 2020 Genomic sequencing technologies have revolutionized mutation detection of the genetic diseases in the past few years. In recent years, the third generation sequencing (TGS) has been gaining insight into more genetic diseases owing to the single molecular
T. Xiao, Wenhao Zhou
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