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Roy Kakali Satapathy Amit Kumar Houhton Jayne A. L. Flanagan Sarah E. Radha Venkatesan Mohan Viswanathan Sharma Rajni Jain Vandana 《Indian journal of pediatrics》2019,86(11):1051-1053
Indian Journal of Pediatrics - Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disorder, characterized by dysregulated insulin secretion. Pathogenic variants in at... 相似文献
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Rydz Natalia Leggo Jayne Tinlin Shawn James Paula Lillicrap David 《American journal of hematology》2013,88(12):1030-1034
A reference genotyping laboratory was established in 2000 at Queen's University, Kingston, to provide genetic testing for Hemophilia A (HA) and B (HB) and create a Canadian mutation database. Canadian hemophilia treatment centers and genetics clinics provided DNA and clinical information from November 2000 to March 2011. The factor VIII (F8) gene was analyzed in 1,177 patients (47% of HA population) and 787 female family members and the factor IX (F9) gene in 267 patients (47% of HB population) and 123 female family members, using Southern Blot, PCR, conformation sensitive gel electrophoresis, and/or direct sequencing. The mutation detection rates for HA and HB were 91% and 94%, respectively. 380 different F8 mutations were identified: inversions of intron 22 and intron 1, 229 missense, 45 nonsense, eight deletions, 70 frameshifts, 25 splice site, and one compound mutation with a splice site and intron 1 inversion. Of these mutations, 228 were novel to the Hemophilia A Database (HADB, http://hadb.org.uk/ ). A total 125 different F9 mutations were identified: 80 missense, 12 frameshift, 12 splice site, nine nonsense and seven promoter mutations, three large deletions, and two compound mutations with both missense and nonsense changes. Of these mutations, 36 were novel to the International Haemophilia B Mutation database ( http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html ). The Canadian F8 and F9 mutation database reflects the allelic heterogeneity of HA and HB, and is similar to previously described populations. This report represents the largest and longest duration experience of a national hemophilia genotyping program documented, to date. Am. J. Hematol. 88:1030–1034, 2013. © 2013 Wiley Periodicals, Inc. 相似文献
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Hawk JD Stefanovic L Boyer JC Petes TD Farber RA 《Proceedings of the National Academy of Sciences of the United States of America》2005,102(24):8639-8643
Evolutionary studies have suggested that mutation rates vary significantly at different positions in the eukaryotic genome. The mechanism that is responsible for this context-dependence of mutation rates is not understood. We demonstrate experimentally that frameshift mutation rates in yeast microsatellites depend on the genomic context and that this variation primarily reflects the context-dependence of the efficiency of DNA mismatch repair. We measured the stability of a 16.5-repeat polyGT tract by using a reporter gene (URA3-GT) in which the microsatellite was inserted in-frame into the yeast URA3 gene. We constructed 10 isogenic yeast strains with the reporter gene at different locations in the genome. Rates of frameshift mutations that abolished the correct reading frame of this gene were determined by fluctuation analysis. A 16-fold difference was found among these strains. We made mismatch-repair-deficient (msh2) derivatives of six of the strains. Mutation rates were elevated for all of these strains, but the differences in rates among the strains were substantially reduced. The simplest interpretation of this result is that the efficiency of DNA mismatch repair varies in different regions of the genome, perhaps reflecting some aspect of chromosome structure. 相似文献
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Franchi Francesco Schneider David J. Prats Jayne Fan Weihong Rollini Fabiana Been Latonya Taatjes-Sommer Heidi S. Bhatt Deepak L. Deliargyris Efthymios N. Angiolillo Dominick J. 《Journal of thrombosis and thrombolysis》2022,54(3):373-381
Journal of Thrombosis and Thrombolysis - Low dose enteric-coated aspirin (EC-ASA) is routinely used for secondary cardiovascular event prevention. However, absorption of EC tablets is poor, which... 相似文献
18.
Pascal Cohen Christian Pagnoux Alfred Mahr Jean‐Pierre Arène Luc Mouthon Véronique Le Guern Marie‐Hélène André Martine Gayraud David Jayne Daniel Blöckmans Jean‐franÇois Cordier Loïc Guillevin The French Vasculitis Study Group 《Arthritis care & research》2007,57(4):686-693
Objective
To compare long and short durations of adjunctive cyclophosphamide for the treatment of severe Churg‐Strauss syndrome (CSS).Methods
In this prospective multicenter therapeutic trial, 48 patients with CSS with at least 1 poor‐prognosis factor at baseline were treated with glucocorticoids and either 12 or 6 intravenous cyclophosphamide pulses.Results
At 8 years, complete remission rates and severe side effects of therapy were comparable for both groups. The overall difference in relapses was not significant between the 12‐pulse and the 6‐pulse regimens (P = 0.07), but when considering only the number of mild relapses this difference became statistically significant (P < 0.02). Although the total number of inclusions was not reached, the study was stopped prematurely in response to the superiority of the 12‐pulse regimen.Conclusion
We concluded that 12 cyclophosphamide pulses were better able to control severe CSS than a 6‐pulse regimen. The optimal duration of therapy remains to be determined. 相似文献19.
Chamberlain Jayne L. Huda Saif Whittam Daniel H. Matiello Marcelo Morgan B. Paul Jacob Anu 《Journal of neurology》2021,268(5):1665-1665
Journal of Neurology - The original version of this article unfortunately contained a mistake. Fifth sentence of the fourth paragraph in the section “Non-nAChR autoantibody targets in... 相似文献
20.
Meurk Carla Wittenhagen Lisa Lucke Jayne Barker Ruth Roberts Susan Moss Katherine Waterson Elissa Heffernan Ed 《Archives of women's mental health》2021,24(4):579-593
Archives of Women's Mental Health - The purpose of this scoping review was to summarize research that uses linked data to examine peripartum suicidal behaviours and critically appraise studies... 相似文献