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Articles 1 - 3 of 3
Full-Text Articles in Medicine and Health Sciences
Estimation Of The Incidence Of A Rare Genetic Disease Through A Two-Tier Mutation Survey., R Chakraborty, M R Srinivasan, S Raskin
Estimation Of The Incidence Of A Rare Genetic Disease Through A Two-Tier Mutation Survey., R Chakraborty, M R Srinivasan, S Raskin
Journal Articles
Recent attempts to detect mutations involving single base changes or small deletions that are specific to genetic diseases provide an opportunity to develop a two-tier mutation-screening program through which incidence of rare genetic disorders and gene carriers may be precisely estimated. A two-tier survey consists of mutation screening in a sample of patients with specific genetic disorders and in a second sample of newborns from the same population in which mutation frequency is evaluated. We provide the statistical basis for evaluating the incidence of affected and gene carriers in such two-tier mutation-screening surveys, from which the precision of the estimates …
Sequencing Of Cdna From 50 Unrelated Patients Reveals That Mutations In The Triple-Helical Domain Of Type Iii Procollagen Are An Infrequent Cause Of Aortic Aneurysms., Gerard Tromp, Yuli Wu, Darwin J. Prockop, Swarna L. Madhatheri, Caren Kleinert, James J. Earley, Jiapiao Zhuang, Orjan Norrgård, R. Clement Darling, William M. Abbott, C. William Cole, Pekka Jaakkola, Markku Ryynanen, William H. Pearce, James S.T. Yao, Kari Majamaa, Stanton N. Smullens, Zoran Gatalica, Robert E. Ferrell, Sergio A. Jimenez, Charles E. Jackson, Virginia V. Michels, Michael Kaye, Helena Kuivaniemi
Sequencing Of Cdna From 50 Unrelated Patients Reveals That Mutations In The Triple-Helical Domain Of Type Iii Procollagen Are An Infrequent Cause Of Aortic Aneurysms., Gerard Tromp, Yuli Wu, Darwin J. Prockop, Swarna L. Madhatheri, Caren Kleinert, James J. Earley, Jiapiao Zhuang, Orjan Norrgård, R. Clement Darling, William M. Abbott, C. William Cole, Pekka Jaakkola, Markku Ryynanen, William H. Pearce, James S.T. Yao, Kari Majamaa, Stanton N. Smullens, Zoran Gatalica, Robert E. Ferrell, Sergio A. Jimenez, Charles E. Jackson, Virginia V. Michels, Michael Kaye, Helena Kuivaniemi
Department of Biochemistry and Molecular Biology Faculty Papers
Detailed DNA sequencing of the triple-helical domain of type III procollagen was carried out on cDNA prepared from 54 patients with aortic aneurysms. The 43 male and 11 female patients originated from 50 different families and five different nationalities. 43 patients had at least one additional blood relative who had aneurysms. Five overlapping asymmetric PCR products, covering all the coding sequences of the triple-helical domain of type III procollagen, were sequenced with 28 specific sequencing primers. Analysis of the sequencing gels revealed only two nucleotide changes that altered the structure of the protein. One was a substitution of threonine for …
The Tight Skin Mouse: Demonstration Of Mutant Fibrillin-1 Production And Assembly Into Abnormal Microfibrils, Cay M. Kielty, Michael Raghunath, Linda D. Siracusa, Michael J. Sherratt, Reiner Peters, C. Adrian Shuttleworth, Sergio A. Jimenez
The Tight Skin Mouse: Demonstration Of Mutant Fibrillin-1 Production And Assembly Into Abnormal Microfibrils, Cay M. Kielty, Michael Raghunath, Linda D. Siracusa, Michael J. Sherratt, Reiner Peters, C. Adrian Shuttleworth, Sergio A. Jimenez
Selected Works of Sergio Jiménez, MD, MACR
Mice carrying the Tight skin (Tsk) mutation harbor a genomic duplication within the fibrillin-1 (Fbn 1) gene that results in a larger than normal in-frame Fbn 1 transcript. In this study, the consequences of the Tsk mutation for fibrillin-containing microfibrils have been examined. Dermal fibroblasts from Tsk/+ mice synthesized and secreted both normal fibrillin (approximately 330 kD) and the mutant oversized Tsk fibrillin-1 (approximately 450 kD) in comparable amounts, and Tsk fibrillin-1 was stably incorporated into cell layers. Immunohistochemical and ultrastructural analyses of normal and Tsk/+ mouse skin highlighted differences in the gross organization and distribution of microfibrillar arrays. Rotary …