Item talk:Q317069
From geokb
{
"OpenAlex": { "id": "https://openalex.org/T12919", "display_name": "Genetic Basis of Neutropenia Disorders", "description": "This cluster of papers focuses on the genetic basis and clinical manifestations of various neutropenia disorders, including Shwachman-Diamond syndrome, Kostmann disease, and Cohen syndrome. It explores the impact of mutations in genes such as ELANE, HAX1, GFI1, and SBDS on neutrophil development and function, as well as the implications for hematopoietic stem cell transplantation and G-CSF therapy. The research also delves into the molecular mechanisms underlying neutropenia and potential therapeutic targets.", "keywords": [ "Neutropenia", "Genetic Mutations", "Congenital Disorders", "G-CSF Therapy", "ELANE Gene", "Hematopoietic Stem Cells", "Shwachman-Diamond Syndrome", "HAX1 Deficiency", "Gfi1 Transcription Factor", "SBDS Gene" ], "ids": { "openalex": "https://openalex.org/T12919", "wikipedia": "https://en.wikipedia.org/wiki/Neutropenia" }, "subfield": { "id": "https://openalex.org/subfields/1311", "display_name": "Genetics" }, "field": { "id": "https://openalex.org/fields/13", "display_name": "Biochemistry, Genetics and Molecular Biology" }, "domain": { "id": "https://openalex.org/domains/1", "display_name": "Life Sciences" }, "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/T11310", "display_name": "Genetic and Molecular Studies of Connective Tissue Disorders" }, { "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/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" } ], "works_count": 37156, "cited_by_count": 302568, "updated_date": "2024-08-26T05:18:06.469248", "created_date": "2024-01-23" }
}