ArticleAmerican journal of human genetics2018
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 23 citations in OpenAlex.
- Evidence that disruption of Discoidin domain receptor 2 contributes to palate malformations through effects on the extracellular matrix.Human molecular genetics · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- A manually curated gene-phenotype catalogue for progeroid syndromes and premature aging.Aging · 2026Article
- Investigating the Mechanisms of Pazopanib-induced Hepatotoxicity: Insights from Network Toxicology, Microarray Analysis, and Machine Learning.Current medicinal chemistry · 2026Article
- A Novel Mutation inArchives of Iranian medicine · 2025Article
- Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism.Current diabetes reports · 2025Review
- Warburg-Cinotti disease variant p.Tyr740Cys enhances catalytic activity of DDR2 kinase.PloS one · 2025Article
- Progressive conjunctival invasion of cornea in a child with Warburg-Cinotti Syndrome: a case report.BMC ophthalmology · 2024Article
- Evaluating the Pharmacokinetics and Pharmacodynamics of Chemotherapeutics within a Spatial SILAC-Labeled Spheroid Model System.Analytical chemistry · 2023Article
- Discoidin domain receptors; an ancient family of collagen receptors has major roles in bone development, regeneration and metabolism.Frontiers in dental medicine · 2023Article
- Lipodystrophy-associated progeroid syndromes.Hormones (Athens, Greece) · 2022Review
- Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.Pediatric rheumatology online journal · 2022Article
- Targeting adipocytic discoidin domain receptor 2 impedes fat gain while increasing bone mass.Cell death and differentiation · 2022Article
- Progression of skin lesions in Warburg-Cinotti syndrome.JAAD case reports · 2022Article
- Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.Molecular syndromology · 2022Article
- Tumor elastography and its association with cell-free tumor DNA in the plasma of breast tumor patients: a pilot study.Quantitative imaging in medicine and surgery · 2021Article
- Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist.Pediatric rheumatology online journal · 2021Review
- Discoidin domain receptors: Micro insights into macro assemblies.Biochimica et biophysica acta. Molecular cell research · 2019Review
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Authors and funding
17 authors at 7 institutions in 5 countries.
Funding
Abstract
We have investigated a distinct disorder with progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acro-osteolysis. In six affected individuals from four families, we found one of two recurrent variants in discoidin domain receptor tyrosine kinase 2 (DDR2): c.1829T>C (p.Leu610Pro) or c.2219A>G (p.Tyr740Cys). DDR2 encodes a collagen-responsive receptor tyrosine kinase that regulates connective-tissue formation. In three of the families, affected individuals comprise singleton adult individuals, and parental samples were not available for verification of the de novo occurrence of the DDR2 variants. In the fourth family, a mother and two of her children were affected, and the c.2219A>G missense variant was proven to be de novo in the mother. Phosphorylation of DDR2 was increased in fibroblasts from affected individuals, suggesting reduced receptor autoinhibition and ligand-independent kinase activation. Evidence for activation of other growth-regulatory signaling pathways was not found. Finally, we found that the protein kinase inhibitor dasatinib prevented DDR2 autophosphorylation in fibroblasts, suggesting an approach to treatment. We propose this progressive, fibrotic condition should be designated as Warburg-Cinotti syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.