ArticleAnnals of the New York Academy of Sciences2021
Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins.
Article in Annals of the New York Academy of Sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- The Pathogenic ADAMTSL2 D167N Variant Causes Geleophysic Dysplasia-Like Connective Tissue Changes in Mice.The American journal of pathology · 2026Article
- Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients.European journal of pediatrics · 2026Article
- Article
- Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes.Life science alliance · 2025Article
- Global, regional, and national burden of congenital musculoskeletal and limb anomalies, 1990-2021: a systematic analysis of the global burden of disease in 2021.Tropical medicine and health · 2025Article
- Myoblast-derived ADAMTS-like 2 promotes skeletal muscle regeneration after injury.NPJ Regenerative medicine · 2024Article
- Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.Cureus · 2024Article
- Emerging roles for the ADAMTS-like family of matricellular proteins in cardiovascular disease through regulation of the extracellular microenvironment.Molecular biology reports · 2024Review
- Article
- Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation inFrontiers in pediatrics · 2024Article
- En route towards a personalized medicine approach: Innovative therapeutic modalities for connective tissue disorders.Matrix biology : journal of the International Society for Matrix Biology · 2023Review
- Phylogenetic inference of the emergence of sequence modules and protein-protein interactions in the ADAMTS-TSL family.PLoS computational biology · 2023Article
- ADAMTSL3 knock-out mice develop cardiac dysfunction and dilatation with increased TGFβ signalling after pressure overload.Communications biology · 2022Article
- Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome.Human molecular genetics · 2022Article
- O-fucosylation of thrombospondin type 1 repeats is essential for ECM remodeling and signaling during bone development.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- The matrix in focus: new directions in extracellular matrix research from the 2021 ASMB hybrid meeting.Biology open · 2022Article
- Genome-wide methylation patterns in Marfan syndrome.Clinical epigenetics · 2021Article
- Article
- Fascia Mobility, Proprioception, and Myofascial Pain.Life (Basel, Switzerland) · 2021Review
- Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.American journal of human genetics · 2021Article
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3 authors at 1 institution in 1 country.
Funding
Abstract
Acromelic dysplasias are a group of rare musculoskeletal disorders that collectively present with short stature, pseudomuscular build, stiff joints, and tight skin. Acromelic dysplasias are caused by mutations in genes (FBN1, ADAMTSL2, ADAMTS10, ADAMTS17, LTBP2, and LTBP3) that encode secreted extracellular matrix proteins, and in SMAD4, an intracellular coregulator of transforming growth factor-β (TGF-β) signaling. The shared musculoskeletal presentations in acromelic dysplasias suggest that these proteins cooperate in a biological pathway, but also fulfill distinct roles in specific tissues that are affected in individual disorders of the acromelic dysplasia group. In addition, most of the affected proteins directly interact with fibrillin microfibrils in the extracellular matrix and have been linked to the regulation of TGF-β signaling. Together with recently developed knockout mouse models targeting the affected genes, novel insights into molecular mechanisms of how these proteins regulate musculoskeletal development and homeostasis have emerged. Here, we summarize the current knowledge highlighting pathogenic mechanisms of the different disorders that compose acromelic dysplasias and provide an overview of the emerging biological roles of the individual proteins that are compromised. Finally, we develop a conceptual model of how these proteins may interact and form an "acromelic dysplasia complex" on fibrillin microfibrils in connective tissues of the musculoskeletal system.
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