{"cited_by_count":669112,"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":"Connective tissue disorders research","domain_id":"1","external_ids":{"openalex":"https://openalex.org/T11310","wikipedia":"https://en.wikipedia.org/wiki/Connective_tissue_disease"},"field_id":"13","id":"T11310","keywords":[{"display_name":"Marfan syndrome","id":"marfan-syndrome","score":0.5543,"url":"https://openalex.org/keywords/marfan-syndrome"},{"display_name":"osteogenesis imperfecta","id":"osteogenesis-imperfecta","score":0.5662,"url":"https://openalex.org/keywords/osteogenesis-imperfecta"},{"display_name":"skeletal dysplasia","id":"skeletal-dysplasia","score":0.2898,"url":"https://openalex.org/keywords/skeletal-dysplasia"},{"display_name":"Ehlers-Danlos syndrome","id":"ehlers-danlos-syndrome","score":0.5028,"url":"https://openalex.org/keywords/ehlers-danlos-syndrome"},{"display_name":"joint hypermobility","id":"joint-hypermobility","score":0.4118,"url":"https://openalex.org/keywords/joint-hypermobility"},{"display_name":"fibrillin-1","id":"fibrillin-1","score":0.6135,"url":"https://openalex.org/keywords/fibrillin-1"},{"display_name":"achondroplasia","id":"achondroplasia","score":0.4008,"url":"https://openalex.org/keywords/achondroplasia"},{"display_name":"aortic root dilatation","id":"aortic-root-dilation","score":0.2413,"url":"https://openalex.org/keywords/aortic-root-dilation"},{"display_name":"hereditary connective tissue disorders","id":"heritable-connective-tissue-disorders","score":0.6233,"url":"https://openalex.org/keywords/heritable-connective-tissue-disorders"},{"display_name":"Loeys-Dietz syndrome","id":"loeys-dietz-syndrome","score":0.6543,"url":"https://openalex.org/keywords/loeys-dietz-syndrome"},{"display_name":"vascular Ehlers-Danlos syndrome","id":"vascular-ehlers-danlos-syndrome","score":0.7025,"url":"https://openalex.org/keywords/vascular-ehlers-danlos-syndrome"},{"display_name":"COL1A2","id":"col1a2","score":0.3264,"url":"https://openalex.org/keywords/col1a2"},{"display_name":"chondrodysplasia","id":"chondrodysplasia","score":0.2783,"url":"https://openalex.org/keywords/chondrodysplasia"},{"display_name":"connective tissue dysplasia","id":"connective-tissue-dysplasia","score":0.3389,"url":"https://openalex.org/keywords/connective-tissue-dysplasia"},{"display_name":"arachnodactyly","id":"arachnodactyly","score":0.6518,"url":"https://openalex.org/keywords/arachnodactyly"},{"display_name":"blue sclera","id":"blue-sclerae","score":0.5254,"url":"https://openalex.org/keywords/blue-sclerae"},{"display_name":"Ehlers-Danlos syndrome type IV","id":"ehlers-danlos-syndrome-type-iv","score":0.6238,"url":"https://openalex.org/keywords/ehlers-danlos-syndrome-type-iv"},{"display_name":"hypermobile Ehlers-Danlos syndrome","id":"hypermobile-ehlers-danlos-syndrome","score":0.5018,"url":"https://openalex.org/keywords/hypermobile-ehlers-danlos-syndrome"},{"display_name":"FBN1 gene","id":"fbn1-gene","score":0.8989,"url":"https://openalex.org/keywords/fbn1-gene"},{"display_name":"Stickler syndrome","id":"stickler-syndrome","score":0.4591,"url":"https://openalex.org/keywords/stickler-syndrome"},{"display_name":"FBN1 mutations","id":"fbn1-mutations","score":0.8804,"url":"https://openalex.org/keywords/fbn1-mutations"},{"display_name":"Beighton score","id":"beighton-score","score":0.4475,"url":"https://openalex.org/keywords/beighton-score"},{"display_name":"cutis laxa","id":"cutis-laxa","score":0.4123,"url":"https://openalex.org/keywords/cutis-laxa"},{"display_name":"joint hypermobility syndrome","id":"joint-hypermobility-syndrome","score":0.6085,"url":"https://openalex.org/keywords/joint-hypermobility-syndrome"},{"display_name":"hypermobility spectrum disorders","id":"hypermobility-spectrum-disorders","score":0.5267,"url":"https://openalex.org/keywords/hypermobility-spectrum-disorders"}],"legacy_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"],"openalex_id":"https://openalex.org/T11310","source_created_date":"2024-01-23T15:27:10","source_updated_date":"2026-10-17T03:02:00","subfield_id":"1311","url":"/topics/T11310","works_api_url":"https://api.openalex.org/works?filter=topics.id:T11310","works_count":47930,"label":"Connective tissue disorders research","provider":"openalex","revision":"68d14d17d0207110","taxonomy_revision":"f050b5d4780b1289","title":"Connective tissue disorders research","kind":"topic-directory","aeo_cohort":"topic-directory","catalogue_revision":"f050b5d4780b1289","numeric_address":"36182745835433671","address_version":"morton4x16-v1","coordinates":[1,13,1311,11310],"answer_status":"Directory metadata; local answer requires separate source review","truth_status":"Subject descriptor, not a factual answer or a demonstrated knowledge gap","reviewed_answer":null}