نتایج جستجو برای: de novo

تعداد نتایج: 1534710  

2016
I.A.H. ter Horst Y. Kuijpers J. van ’t Sant A.E. Tuinenburg M.J. Cramer M. Meine

OBJECTIVE The objective of the study was to examine whether cardiac resynchronisation therapy upgrade procedures are more complex and associated with more complications than de novo implantations. METHOD We retrospectively compared 134 upgrade procedures performed between 2006-2012 with a random, equally sized, sample of de novo CRT device implantations in the same period. Procedural data and...

2015
Peng Ji Gao Jie Gao Zhao Li Zhi Ping Hu Ji Ye Zhu

PURPOSE The aim of this study is to evaluate the incidence of de novo malignancy after liver transplantation (LT) and compare with those among the general Chinese population. METHODS A total of 466 patients who had a minimum follow-up time of 6 months were enrolled in the study. All data of medical records and follow up were retrospectively reviewed. RESULTS The incidence rate of de novo ma...

Journal: :Biological psychiatry 2011
Elliott Rees Valentina Moskvina Michael J Owen Michael C O'Donovan George Kirov

BACKGROUND At least 10 large and rare recurrent DNA copy number variants (CNVs) have been identified as risk factors for schizophrenia and other neurodevelopmental disorders. Because such conditions are associated with reduced fecundity, these pathogenic CNVs should be filtered out from the population by selection and must be replenished by de novo events. METHODS To estimate the mutation rat...

2016
Xiaofan Zhou David Peris Jacek Kominek Cletus P. Kurtzman Chris Todd Hittinger Antonis Rokas

The availability of genomes across the tree of life is highly biased toward vertebrates, pathogens, human disease models, and organisms with relatively small and simple genomes. Recent progress in genomics has enabled the de novo decoding of the genome of virtually any organism, greatly expanding its potential for understanding the biology and evolution of the full spectrum of biodiversity. The...

Journal: :Neuron 2015
Stephan J. Sanders Xin He A. Jeremy Willsey A. Gulhan Ercan-Sencicek Kaitlin E. Samocha A. Ercument Cicek Michael T. Murtha Vanessa H. Bal Somer L. Bishop Shan Dong Arthur P. Goldberg Cai Jinlu John F. Keaney Lambertus Klei Jeffrey D. Mandell Daniel Moreno-De-Luca Christopher S. Poultney Elise B. Robinson Louw Smith Tor Solli-Nowlan Mack Y. Su Nicole A. Teran Michael F. Walker Donna M. Werling Arthur L. Beaudet Rita M. Cantor Eric Fombonne Daniel H. Geschwind Dorothy E. Grice Catherine Lord Jennifer K. Lowe Shrikant M. Mane Donna M. Martin Eric M. Morrow Michael E. Talkowski James S. Sutcliffe Christopher A. Walsh Timothy W. Yu David H. Ledbetter Christa Lese Martin Edwin H. Cook Joseph D. Buxbaum Mark J. Daly Bernie Devlin Kathryn Roeder Matthew W. State

Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with autism spectrum disorders (ASDs) and confirms six risk loci (1q21.1, 3q29, 7q11.23, 16p11.2, 15q11.2-13, and 22q11.2). The addition of published CNV data from the Autism Genome Project (AGP) and exome sequencing data from the SSC and the Autis...

2012
Jun-ichirou Ohzeki Jan H Bergmann Natalay Kouprina Vladimir N Noskov Megumi Nakano Hiroshi Kimura William C Earnshaw Vladimir Larionov Hiroshi Masumoto

The kinetochore is responsible for accurate chromosome segregation. However, the mechanism by which kinetochores assemble and are maintained remains unclear. Here we report that de novo CENP-A assembly and kinetochore formation on human centromeric alphoid DNA arrays is regulated by a histone H3K9 acetyl/methyl balance. Tethering of histone acetyltransferases (HATs) to alphoid DNA arrays breaks...

Journal: :Genome research 2015
Wigard P Kloosterman Laurent C Francioli Fereydoun Hormozdiari Tobias Marschall Jayne Y Hehir-Kwa Abdel Abdellaoui Eric-Wubbo Lameijer Matthijs H Moed Vyacheslav Koval Ivo Renkens Markus J van Roosmalen Pascal Arp Lennart C Karssen Bradley P Coe Robert E Handsaker Eka D Suchiman Edwin Cuppen Djie Tjwan Thung Mitch McVey Michael C Wendl André Uitterlinden Cornelia M van Duijn Morris A Swertz Cisca Wijmenga GertJan B van Ommen P Eline Slagboom Dorret I Boomsma Alexander Schönhuth Evan E Eichler Paul I W de Bakker Kai Ye Victor Guryev

Small insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retr...

Journal: :Current opinion in organ transplantation 2014
Chris Wiebe Peter Nickerson

PURPOSE OF REVIEW To summarize the evidence concerning human leukocyte antigen (HLA) epitope mismatch analysis as a means to predict donor-specific antibody (DSA) development and allograft survival. RECENT FINDINGS HLA epitope mismatch analysis outperforms traditional whole molecule antigen mismatch for predicting the risk of de-novo DSA development. By analyzing the number of epitope mismatc...

Journal: :iranian journal of blood and cancer 0
bhat sh manzoor f bashir n bashir y geelani s rasool j

background: acute myeloid leukemia (aml) with translocation (3,3) is a form of aml that may present de novo or may arise from a previous myelodysplastic syndrome. it is often associated with normal or elevated peripheral blood platelet count and increased bone marrow megakaryocytes with associated multi lineage dysplasia. a subset of patients present with hepatosplenomegaly while a few cases ha...

Journal: :The Journal of biological chemistry 2001
T Yamaoka M Yano M Kondo H Sasaki S Hino R Katashima M Moritani M Itakura

To clarify the contributions of amidophosphoribosyltransferase (ATase) and its feedback regulation to the rates of purine de novo synthesis, DNA synthesis, protein synthesis, and cell growth, mutated human ATase (mhATase) resistant to feedback inhibition by purine ribonucleotides was engineered by site-directed mutagenesis and expressed in CHO ade (-)A cells (an ATase-deficient cell line of Chi...

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