By Denise van der Linde, Jolien Roos-Hesselink, Bart L. Loeys

ISBN-10: 0128027088

ISBN-13: 9780128027080

Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, examine, and care linked to AOS. With the sector of genetically brought on aortopathies starting to be, this significant reference will assemble the most recent discoveries during this box, permitting cardiologists, cardio-thoracic surgeons, medical geneticists, vascular surgeons, orthopedic surgeons, and researchers to realize the information they want with no need to collect the knowledge from a number of sources.

Coverage comprises genotype and phenotype correlations, the practical function of SMAD3, and insights into the function of TGFbeta signaling in aortic sickness. The e-book increases wisdom approximately AOS, delivering knowledge and higher sufferer take care of this competitive disease.

  • Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to sufferer care
  • Contains medical administration advice on optimum cardiovascular remedies and surgery
  • Explains the autosomal dominant syndromes brought on by mutations within the SMAD3 gene
  • Identifies the foremost positive aspects of this syndrome, together with arterial aneurysms and tortuosity, early onset arthritis, and delicate craniofacial features

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Extra info for Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations

Sample text

Am J Med Genet A 2013;161A(5):1028–35. [6] Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, et al. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res 2011;109(6):680–6. [7] Martens T, van Herzeele I, de Ryck F, Renard M, de Paepe A, Francois K, et al. Multiple aneurysms in a patient with aneurysms-osteoarthritis syndrome. Ann Thorac Surg 2013;95(1):332–5. [8] Hilhorst-Hofstee Y, Scholte AJHA, Rijlaarsdam MEB, van Haeringen A, Kroft LJ, Reijnierse M, et al.

The established marked phenotypic variability among individuals carrying the same mutation tends to blur distinctions among different mutations, [28] and it is likely that epigenetic and environmental factors also play an important role. The most robust genotype-phenotype correlation is for point mutations or small in-frame deletions in the epidermal growth factor–like motifs in the middle region of the gene (exons 24–32), which tend to result in a more severe form of the disorder and explain virtually all cases of neonatal MFS [23].

Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. Circulation 2013;127(15):1569–75. [50] McKusick VA. The cardiovascular aspects of Marfan’s syndrome: a heritable disorder of connective tissue. Circulation 1955;11(3):321–42. [51] Sherif HMF. Heterogeneity in the segmental development of the aortic tree: impact on management of genetically triggered aortic aneurysms. Aorta (Stamford) 2014;2(5):186–95. [52] Hungerford JE, Little CD. Developmental biology of the vascular smooth muscle cell: building a multilayered vessel wall.

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Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations by Denise van der Linde, Jolien Roos-Hesselink, Bart L. Loeys


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