ReviewEuropean journal of pediatrics2013
Educational paper. Connective tissue disorders with vascular involvement: from gene to therapy.
Review in European journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
11 citing papers in PubMed, 27 citations in OpenAlex.
- A novel TGFBR2 mutation causes Loeys-Dietz syndrome in a Chinese infant: A case report.Heliyon · 2025Article
- Loeys-Dietz syndrome and Goldenhar syndrome unveiled together.BMJ case reports · 2024Article
- Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.Italian journal of pediatrics · 2022Review
- Loeys-Dietz syndrome associated with a heterozygous mutation inExperimental and therapeutic medicine · 2021Article
- Multifaced Roles of the αvβ3 Integrin in Ehlers-Danlos and Arterial Tortuosity Syndromes' Dermal Fibroblasts.International journal of molecular sciences · 2018Review
- Identification of FBN1 gene mutations in Ukrainian Marfan syndrome patients.Genetics research · 2016Article
- Aortic dissection and stroke in a 37-year-old woman: discovering an emerging heritable connective tissue disorder.Internal and emergency medicine · 2015Article
- Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene.European radiology · 2014Article
- Loeys-Dietz syndrome: a primer for diagnosis and management.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Review
- Severe aortopathy due to fibulin-4 deficiency: molecular insights, surgical strategy, and a review of the literature.European journal of pediatrics · 2014Review
- Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series.European journal of pediatrics · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heritable connective tissue diseases comprise a heterogeneous group of multisystemic disorders that are characterized by significant morbidity and mortality. These disorders do not merely result from defects in the amount or structure of one of the components of the extracellular matrix, as the extracellular matrix also serves other functions, including sequestration of cytokines, such as transforming growth factor beta (TGFβ). Indeed, disturbed TGFβ signaling was demonstrated in several heritable connective tissue diseases, including syndromic forms such as Marfan or Loeys-Dietz syndrome and non-syndromic presentations of thoracic aortic aneurysm/dissection. Because of these findings, new therapeutic targets have been unveiled, leading to the initiation of large clinical trials with angiotensin II type 1 receptor antagonists that also have an inhibiting effect on TGFβ signaling. Here, we present an overview of the clinical characteristics, the molecular findings, and the therapeutic strategies for the currently known syndromic and non-syndromic forms of thoracic aortic aneurysm/dissection.
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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.