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EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Am J Med Genet A
June 2024
Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Article Synopsis
- The study describes a hereditary connective tissue disorder characterized by features like hyperextensible skin, joint laxity, and specific craniofacial characteristics linked to mutations in the EFEMP1 gene.
- Genome sequencing revealed that both the proband and her mother carried a specific stop-gain mutation, leading to significantly reduced levels of the EFEMP1 transcript in their fibroblasts.
- The findings highlight the role of EFEMP1 haploinsufficiency due to nonsense-mediated decay in causing severe symptoms, marking the first report of an autosomal dominant disorder associated with this gene and expanding the understanding of related conditions.
Smooth Muscle α-Actin Expression in Mitral Valve Interstitial Cells is Important for Mediating Extracellular Matrix Remodeling.
J Cardiovasc Dev Dis
August 2020
Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Background: Mitral valve prolapse (MVP) affects 3-6% of the total population including those with connective tissue disorders. Treatment is limited, and patients commonly require surgery which can be impermanent and insuperable. Abnormal prolapse of mitral valve leaflets into the left atria is caused by disturbances to the composition and organization of the extracellular matrix (ECM), that weaken biomechanics.
View Article and Find Full Text PDFConsensus statement on surgical pathology of the aorta from the Society for Cardiovascular Pathology and the Association For European Cardiovascular Pathology: II. Noninflammatory degenerative diseases - nomenclature and diagnostic criteria.
Cardiovasc Pathol
January 2017
University of Amsterdam, Amsterdam, the Netherlands.
Surgical aortic specimens are usually examined in Pathology Departments as a result of treatment of aneurysms or dissections. A number of diseases, genetic syndromes (Marfan syndrome, Loeys-Dietz syndrome, etc.), and vasculopathic aging processes involved in vascular injury can cause both distinct and nonspecific histopathologic changes with degeneration of the media as a common denominator.
View Article and Find Full Text PDFBackground differences in baseline and stimulated MMP levels influence abdominal aortic aneurysm susceptibility.
Atherosclerosis
December 2015
Department of Surgery, University of Nebraska Medical Center, Omaha, NE, USA. Electronic address:
Objective: Evidence has demonstrated profound influence of genetic background on cardiovascular phenotypes. Murine models in Marfan syndrome (MFS) have shown that genetic background-related variations affect thoracic aortic aneurysm formation, rupture, and lifespan of mice. MFS mice with C57Bl/6 genetic background are less susceptible to aneurysm formation compared to the 129/SvEv genetic background.
View Article and Find Full Text PDFDiagnosing the dead: the retrospective analysis of genetic diseases.
J R Coll Physicians Edinb
December 2013
The suspected presence of hereditary disease in important historical and political figures has interested researchers for many decades. Whether Abraham Lincoln suffered from Marfan syndrome, if George III became 'mad' because he inherited variegate porphyria, and if the Romanov dynasty collapsed because the heir Alexei inherited haemophilia are important questions; physical illness can adversely affect the ability of leaders to function within the social and political realm of their day. This article will outline an approach to such a medical-historical analysis including assessment of hereditary predisposition, family history and the use of DNA technology to confirm or deny the clinical suspicions of the investigator.
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