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, study, and care linked to AOS. With the sphere of genetically brought on aortopathies transforming into, this crucial reference will assemble the most recent discoveries during this box, permitting cardiologists, cardio-thoracic surgeons, scientific geneticists, vascular surgeons, orthopedic surgeons, and researchers to achieve the data they wish with no need to collect the information from numerous sources.

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

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

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Additional info for Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations

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The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum Mutat 2007;28(9):928. Marfan Syndrome Chapter | 4a 47 [23] Faivre L, Masurel-Paulet A, Collod-Beroud G, Callewaert BL, Child AH, Stheneur C, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics 2009;123(1):391–8. [24] Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, et al.

5 cm/year), desire for pregnancy, a family history for aortic dissection, and/or significant aortic valve regurgitation [72,119]. Although these conventional criteria have definitely proved their benefit, further refinement seems appropriate to select those cases at risk with lower diameters, on the one hand, and cases that may still be “safe” at higher diameters, on the other hand. Additional criteria that could be considered include (1) aortic biomechanics, (2) expected normal aortic dimensions, (3) aortic geometry and shape, and (4) specific biomarkers, such as fibrillin fragments or serum TGF-β.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A 2009;149A(5):854–60. [34] Dietz HC, Pyeritz RE. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Hum Mol Genet 1995;4:1799–809. [35] Adès LC, Sreetharan D, Onikul E, Stockton V, Watson KC, Holman KJ. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.

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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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