Publications by authors named "Ivo J H M de Vos"
Article Synopsis
- Frank-Ter Haar syndrome (FTHS) is a rare disorder that affects bones and skin, causing unusual shapes in the face and body and problems with soft tissues.
- It is caused by specific gene mutations that affect how the body makes and remodels collagen, which is important for strong bones and skin.
- Researchers created special mutant zebrafish to study FTHS better, showing that the fish can help scientists find new treatments for the problems caused by this syndrome.
Microfibril-associated glycoprotein 4 (MFAP4) is an extracellular matrix protein belonging to the fibrinogen-related protein superfamily. MFAP4 is produced by vascular smooth muscle cells and is highly enriched in the blood vessels of the heart and lung, where it is thought to contribute to the structure and function of elastic fibers. Genetic studies in humans have implicated MFAP4 in the pathogenesis of Smith-Magenis syndrome, in which patients present with multiple congenital abnormalities and mental retardation, as well as in the severe cardiac malformation left-sided congenital heart disease.
View Article and Find Full Text PDFThe nervous system communicates with peripheral tissues through nerve fibres and the systemic release of hypothalamic and pituitary neurohormones. Communication between the nervous system and the largest human organ, skin, has traditionally received little attention. In particular, the neuro-regulation of sebaceous glands (SGs), a major skin appendage, is rarely considered.
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- Frank-Ter Haar syndrome, Winchester syndrome, and multicentric osteolysis, nodulosis, and arthropathy are rare genetic disorders that share symptoms like facial abnormalities, low bone density, and heart issues, caused by mutations in specific genes (SH3PXD2B, MMP14, MMP2).
- An overview of 63 patients shows significant clinical similarities among these syndromes, and the genes involved play crucial roles in collagen remodeling, which is impaired in these disorders.
- The authors suggest a new classification called the "defective collagen-remodelling spectrum (DECORS)" to highlight the importance of collagen issues, which could open up new avenues for treatment.
Article Synopsis
- - Winchester syndrome (WS) is a very rare genetic disorder that leads to serious joint problems and bone damage, primarily caused by mutations in the MMP14 gene.
- - Researchers identified a new, milder mutation (R111H) in the MMP14 gene that only partially reduces its function, which may explain why some patients have less severe symptoms than others.
- - To better study WS, scientists created a knockout zebrafish model that shows similar symptoms to the disorder, such as malformations and reduced bone density, which could help in finding new treatments.
Cerebral cavernous malformations are vascular anomalies of the central nervous system characterized by clusters of enlarged, leaky capillaries. They are caused by loss-of-function mutations in KRIT1, CCM2, or PDCD10. The proteins encoded by these genes are involved in four partially interconnected signaling pathways that control angiogenesis and endothelial permeability.
View Article and Find Full Text PDFAnterior segment dysgeneses are developmental anomalies of the anterior eye segment that can occur as isolated defects or as part of various syndromes. A subgroup is caused by abnormal embryonic neural crest development. The Axenfeld-Rieger syndrome is an umbrella term for a continuum of anterior segment dysgeneses of neural crest origin, characterized by the presence of the Axenfeld or Rieger eye malformation predisposing for glaucoma.
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