# Connective tissue disorders research

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/connective-tissue-disorders-research/

## Facts

| Field | Value |
| --- | --- |
| 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-ß receptor, elastin, fibrillin-1, and collagen, as well as their implications in aortic aneurysms and skeletal abnormalities. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t11310 |
| Works | 209 |

## Topic papers all

Showing 15 of 209.

- [The 2017 international classification of the Ehlers–Danlos syndromes](https://scholariq.org/papers/the-2017-international-classification-of-the-ehlers-danlos-syndromes/)
- [Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta](https://scholariq.org/papers/transplantability-and-therapeutic-effects-of-bone-marrow-derived-mesenchymal/)
- [Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone](https://scholariq.org/papers/isolated-allogeneic-bone-marrow-derived-mesenchymal-cells-engraft-and-stimulate/)
- [Endovascular Stent–Graft Placement for the Treatment of Acute Aortic Dissection](https://scholariq.org/papers/endovascular-stent-graft-placement-for-the-treatment-of-acute-aortic-dissection/)
- [APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy](https://scholariq.org/papers/app-locus-duplication-causes-autosomal-dominant-early-onset-alzheimer-disease/)
- [Canonical WNT Signaling Promotes Osteogenesis by Directly Stimulating Runx2 Gene Expression](https://scholariq.org/papers/canonical-wnt-signaling-promotes-osteogenesis-by-directly-stimulating-runx2-gene/)
- [Cerebrospinal fluid drainage reduces paraplegia after thoracoabdominal aortic aneurysm repair: Results of a randomized clinical trial](https://scholariq.org/papers/cerebrospinal-fluid-drainage-reduces-paraplegia-after-thoracoabdominal-aortic/)
- [The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm](https://scholariq.org/papers/the-same-sequence-variant-on-9p21-associates-with-myocardial-infarction/)
- [Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development](https://scholariq.org/papers/identification-of-rnf213-as-a-susceptibility-gene-for-moyamoya-disease-and-its/)
- [Vascular Smooth Muscle Cells and Arterial Stiffening: Relevance in Development, Aging, and Disease](https://scholariq.org/papers/vascular-smooth-muscle-cells-and-arterial-stiffening-relevance-in-development/)
- [Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis](https://scholariq.org/papers/mutations-in-smad3-cause-a-syndromic-form-of-aortic-aneurysms-and-dissections/)
- [Replacement of the Aortic Root in Patients with Marfan's Syndrome](https://scholariq.org/papers/replacement-of-the-aortic-root-in-patients-with-marfan-s-syndrome/)
- [Elastic fiber homeostasis requires lysyl oxidase–like 1 protein](https://scholariq.org/papers/elastic-fiber-homeostasis-requires-lysyl-oxidase-like-1-protein/)
- [Contemporary results of surgery in acute type A aortic dissection: The International Registry of Acute Aortic Dissection experience](https://scholariq.org/papers/contemporary-results-of-surgery-in-acute-type-a-aortic-dissection-the/)
- [Nosology and classification of genetic skeletal disorders: 2019 revision](https://scholariq.org/papers/nosology-and-classification-of-genetic-skeletal-disorders-2019-revision/)

## Topic primary papers

Showing 15 of 71.

- [The 2017 international classification of the Ehlers–Danlos syndromes](https://scholariq.org/papers/the-2017-international-classification-of-the-ehlers-danlos-syndromes/)
- [Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta](https://scholariq.org/papers/transplantability-and-therapeutic-effects-of-bone-marrow-derived-mesenchymal/)
- [APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy](https://scholariq.org/papers/app-locus-duplication-causes-autosomal-dominant-early-onset-alzheimer-disease/)
- [Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis](https://scholariq.org/papers/mutations-in-smad3-cause-a-syndromic-form-of-aortic-aneurysms-and-dissections/)
- [Nosology and classification of genetic skeletal disorders: 2019 revision](https://scholariq.org/papers/nosology-and-classification-of-genetic-skeletal-disorders-2019-revision/)
- [Loeys–Dietz syndrome: a primer for diagnosis and management](https://scholariq.org/papers/loeys-dietz-syndrome-a-primer-for-diagnosis-and-management/)
- [Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta](https://scholariq.org/papers/clinical-responses-to-bone-marrow-transplantation-in-children-with-severe/)
- [Nosology and classification of genetic skeletal disorders: 2015 revision](https://scholariq.org/papers/nosology-and-classification-of-genetic-skeletal-disorders-2015-revision/)
- [Dwarfism and early death in mice lacking C-type natriuretic peptide](https://scholariq.org/papers/dwarfism-and-early-death-in-mice-lacking-c-type-natriuretic-peptide/)
- [Diagnosis, natural history, and management in vascular Ehlers–Danlos syndrome](https://scholariq.org/papers/diagnosis-natural-history-and-management-in-vascular-ehlers-danlos-syndrome/)
- [Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta](https://scholariq.org/papers/exome-sequencing-identifies-truncating-mutations-in-human-serpinf1-in-autosomal/)
- [Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta](https://scholariq.org/papers/identification-of-a-frameshift-mutation-in-osterix-in-a-patient-with-recessive/)
- [Mutations in SEPT9 cause hereditary neuralgic amyotrophy](https://scholariq.org/papers/mutations-in-sept9-cause-hereditary-neuralgic-amyotrophy/)
- [Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome](https://scholariq.org/papers/phenotypic-spectrum-of-the-smad3-related-aneurysms-osteoarthritis-syndrome/)
- [The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome](https://scholariq.org/papers/the-type-of-variants-at-the-col3a1-gene-associates-with-the-phenotype-and/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.