Item talk:Q167308
From geokb
{
"OpenAlex": { "cited_by_count": 750536, "created_date": "2024-01-23", "description": "This cluster of papers explores genetic and molecular aspects of various connective tissue disorders, including Marfan syndrome, Ehlers-Danlos syndrome, and Osteogenesis Imperfecta. It delves into mutations in genes encoding proteins like TGF-\u00df receptor, elastin, fibrillin-1, and collagen, as well as their implications in aortic aneurysms and skeletal abnormalities.", "display_name": "Genetic and Molecular Studies of Connective Tissue Disorders", "domain": { "id": "https://openalex.org/domains/1", "display_name": "Life Sciences" }, "field": { "id": "https://openalex.org/fields/13", "display_name": "Biochemistry, Genetics and Molecular Biology" }, "id": "https://openalex.org/T11310", "ids": { "openalex": "https://openalex.org/T11310", "wikipedia": "https://en.wikipedia.org/wiki/Connective_tissue_disease" }, "keywords": [ "Marfan Syndrome", "Ehlers-Danlos Syndrome", "Osteogenesis Imperfecta", "TGF-\u00df Receptor Mutations", "Elastin", "Fibrillin-1", "Smooth Muscle Alpha-Actin Mutations", "Collagen Disorders", "Aortic Aneurysm", "Genetic Skeletal Disorders" ], "siblings": [ { "id": "https://openalex.org/T10120", "display_name": "Bacterial Physiology and Genetics" }, { "id": "https://openalex.org/T11412", "display_name": "Ciliopathies: Genetic Disorders Involving Primary Cilia" }, { "id": "https://openalex.org/T14333", "display_name": "Dermatoglyphics in Medical Research and Genetics" }, { "id": "https://openalex.org/T11974", "display_name": "DNA Barcoding for Lepidoptera Taxonomy and Evolution" }, { "id": "https://openalex.org/T11764", "display_name": "Evolutionary Dynamics of Genetic Adaptation and Mutation" }, { "id": "https://openalex.org/T10613", "display_name": "Gene Therapy Techniques and Applications" }, { "id": "https://openalex.org/T13199", "display_name": "Genetic Adaptation of Lactase Persistence in Humans" }, { "id": "https://openalex.org/T11214", "display_name": "Genetic and Behavioral Studies on Dog Domestication" }, { "id": "https://openalex.org/T12989", "display_name": "Genetic and Clinical Studies of Ocular Development" }, { "id": "https://openalex.org/T11374", "display_name": "Genetic and Environmental Influences on Cleft Lip and Palate" }, { "id": "https://openalex.org/T12232", "display_name": "Genetic and Pathogenic Study of Plague Bacteria" }, { "id": "https://openalex.org/T11968", "display_name": "Genetic and Physiological Adaptations to High-Altitude Environments" }, { "id": "https://openalex.org/T11468", "display_name": "Genetic Architecture of Quantitative Traits" }, { "id": "https://openalex.org/T12919", "display_name": "Genetic Basis of Neutropenia Disorders" }, { "id": "https://openalex.org/T12924", "display_name": "Genetic Disorders Causing Tissue Mineralization Abnormalities" }, { "id": "https://openalex.org/T13354", "display_name": "Genetic Influence on Human Athletic Performance" }, { "id": "https://openalex.org/T10769", "display_name": "Genetic Research on BRCA Mutations and Cancer Risk" }, { "id": "https://openalex.org/T11679", "display_name": "Genetics and Development of Craniofacial Abnormalities" }, { "id": "https://openalex.org/T12370", "display_name": "Genetics and Genomics of Cucurbitaceae Family" }, { "id": "https://openalex.org/T11171", "display_name": "Genetics and Pathogenesis of Type 1 Diabetes" }, { "id": "https://openalex.org/T10134", "display_name": "Genetics and Treatment of Inflammatory Bowel Disease" }, { "id": "https://openalex.org/T10751", "display_name": "Genomic Analysis of Ancient DNA" }, { "id": "https://openalex.org/T11928", "display_name": "Genomic Imprinting and Parental Gene Expression Control" }, { "id": "https://openalex.org/T10702", "display_name": "Genomic Insights into Social Insects and Symbiosis" }, { "id": "https://openalex.org/T12355", "display_name": "Genomic Rearrangement Disorders in Skin Diseases" }, { "id": "https://openalex.org/T11213", "display_name": "Genomic Rearrangements and Copy Number Variations" }, { "id": "https://openalex.org/T13664", "display_name": "Genomic Rearrangements in Evolutionary Biology" }, { "id": "https://openalex.org/T10594", "display_name": "Genomic Selection in Plant and Animal Breeding" }, { "id": "https://openalex.org/T10261", "display_name": "Genomic Studies and Association Analyses" }, { "id": "https://openalex.org/T10756", "display_name": "Mechanisms of Estrogen Receptor Signaling" }, { "id": "https://openalex.org/T11772", "display_name": "Molecular Basis of Rett Syndrome and Related Disorders" }, { "id": "https://openalex.org/T13984", "display_name": "Nutritional Genomics: Personalized Nutrition and Health" }, { "id": "https://openalex.org/T12447", "display_name": "Phylogenetic Analysis of Spiders and Their Evolution" }, { "id": "https://openalex.org/T10012", "display_name": "Population Genetic Structure and Dynamics" }, { "id": "https://openalex.org/T12749", "display_name": "Race and Genetics in Biomedical Research" }, { "id": "https://openalex.org/T11077", "display_name": "Sex Determination and Differentiation in Organisms" }, { "id": "https://openalex.org/T11353", "display_name": "Snake Venom Evolution and Toxinology" }, { "id": "https://openalex.org/T11642", "display_name": "Standards and Guidelines for Genetic Variant Interpretation" }, { "id": "https://openalex.org/T12929", "display_name": "Transgenic Animal Research" } ], "subfield": { "id": "https://openalex.org/subfields/1311", "display_name": "Genetics" }, "updated_date": "2024-08-19T06:16:02.866040", "works_count": 45663, "oa_id": "T11310" }
}