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

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, learn, and care linked to AOS. With the sphere of genetically prompted aortopathies growing to be, this crucial reference will bring together the latest discoveries during this box, permitting cardiologists, cardio-thoracic surgeons, scientific geneticists, vascular surgeons, orthopedic surgeons, and researchers to achieve the data they want with no need to assemble the information from quite a few sources.

Coverage comprises genotype and phenotype correlations, the useful position of SMAD3, and insights into the function of TGFbeta signaling in aortic illness. The booklet increases wisdom approximately AOS, supplying expertise and higher sufferer deal with this competitive disease.

  • Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to sufferer care
  • Contains scientific administration suggestions on optimum cardiovascular remedies and surgery
  • Explains the autosomal dominant syndromes as a result of mutations within the SMAD3 gene
  • Identifies the major beneficial properties of this syndrome, together with arterial aneurysms and tortuosity, early onset arthritis, and gentle craniofacial features

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Extra resources for Aneurysms-Osteoarthritis Syndrome. SMAD3 Gene Mutations

Example text

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet 2002;71(2):223–37. [21] Comeglio P, Evans AL, Brice G, Cooling RJ, Child AH. Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. Brit J Ophthalmol 2002;86(12):1359–62. [22] Comeglio P, Johnson P, Arno G, Brice G, Evans A, Aragon-Martin J, et al. The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations.

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. An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.

Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann Hum Genet 1972;35(3):331–6. [19] Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Am J Hum Genet 1999;65(4):1007–20. [20] Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, et al. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

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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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