Academia.edu no longer supports Internet Explorer.
To browse Academia.edu and the wider internet faster and more securely, please take a few seconds to upgrade your browser.
2023, Human Reproduction
2015 •
2017 •
Meiosis is the cellular program that underlies gamete formation. For this program, crossovers between homologous chromosomes play an essential mechanical role to ensure regular segregation. We present a detailed study of crossover formation in human male and female meiosis, enabled by modeling analysis. Results suggest that recombination in the two sexes proceeds analogously and efficiently through most stages. However, specifically in female (but not male), ∼25% of the intermediates that should mature into crossover products actually fail to do so. Further, this "female-specific crossover maturation inefficiency" is inferred to make major contributions to the high level of chromosome mis-segregation and resultant aneuploidy that uniquely afflicts human female oocytes (e.g., giving Down syndrome). Additionally, crossover levels on different chromosomes in the same nucleus tend to co-vary, an effect attributable to global per-nucleus modulation of chromatin loop size. Matur...
2010 •
2014 •
Bioinformatics
TroX: a new method to learn about the genesis of aneuploidy from trisomic products of conception2014 •
Motivation : An estimated 10–30% of clinically recognized conceptions are aneuploid, leading to spontaneous miscarriages, in vitro fertilization failures and, when viable, severe developmental disabilities. With the ongoing reduction in the cost of genotyping and DNA sequencing, the use of high-density single nucleotide polymorphism (SNP) markers for clinical diagnosis of aneuploidy and biomedical research into its causes is becoming common practice. A reliable, flexible and computationally feasible method for inferring the sources of aneuploidy is thus crucial. Results : We propose a new method, TroX, for analyzing human trisomy data using high density SNP markers from a trisomic individual or product of conception and one parent. Using a hidden Markov model, we infer the stage of the meiotic error (I or II) and the individual in which non-disjunction event occurred, as well as the crossover locations on the trisomic chromosome. A novel and important feature of the method is its re...
npj Genomic Medicine
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation2021 •
Chromosome instability is inherent to human IVF embryos, but the full spectrum and developmental fate of chromosome anomalies remain uncharacterized. Using haplotyping-based preimplantation genetic testing for monogenic diseases (PGT-M), we mapped the parental and mechanistic origin of common and rare genomic abnormalities in 2300 cleavage stage and 361 trophectoderm biopsies. We show that while single whole chromosome aneuploidy arises due to chromosome-specific meiotic errors in the oocyte, segmental imbalances predominantly affect paternal chromosomes, implicating sperm DNA damage in segmental aneuploidy formation. We also show that postzygotic aneuploidy affects multiple chromosomes across the genome and does not discriminate between parental homologs. In addition, 6% of cleavage stage embryos demonstrated signatures of tripolar cell division with excessive chromosome loss, however hypodiploid blastomeres can be excluded from further embryo development. This observation supports...
bioRxiv (Cold Spring Harbor Laboratory)
<i>IIIandMe</i>: An Algorithm for Chromosome-scale Haplotype Determination Using Genome-wide Variants of Three Haploid Reproductive Cells2022 •
Indian Journal of Medical Research
Identifying the risk of producing aneuploids using meiotic recombination genes as biomarkers: A copy number variation approach2017 •
2023 •
The presence of metalworking tools in burials, hoards, and sanctuaries, from the Bell Beaker period until the Iron Age, invites the question of what link there was between the artisan and his tools, but also between the artisan and society. In these specific find contexts, tools not only provide technical evidence but also acquire a specific symbolic value, as they form part of certain rituals. For example, in the Late Iron Age of Continental Europe, these ritual aspects of artisanship relate to the profound upheavals in society that lead to the emergence of oppida. But tools are also technological items that answer to a specific need, and therefore should not be separated from their function and from the technical purpose for which they are employed. The “Metools” conference which was organised in Belfast in June 2016 as part of the HardRock project “Between a Rock and a Hard Place: context, function, and choice of early metalworking tools on Europe’s Atlantic façade” (Marie Skłodowska Curie, No. 623392) and the “Metal Ages in Europe” commission of the International Union of Pre- and Protohistoric Sciences (UISPP). Its aim was to shine a spotlight on the tools of the metalworker, whether in metal, stone, terracotta or organic materials, to follow their evolution from the appearance of metallurgy at the beginning of the Bronze Age to the Iron Age, as well as the place held by metalworking and its artisans in the economic and social landscape of the period. This volume brings together the various communications that were presented at the “Metools” international symposium to some sixty European researchers. It contains 12 papers by 22 authors. The papers, written in English and French, present new data from the British Isles, France, Germany, Spain, Italy and Corsica and cover a wide range of topics that make up some of the latest research on metalworking during the Bronze and Iron ages. Two projects involving experimental archaeology and various prospection methods used to detect open air metallurgy workshops are presented here. They underline the difficulty of identifying metalworking features in the archaeological record and give insight into why this is the case. Gold metalworking is the subject of two papers that give a comprehensive overview of the tools and the techniques required for this intricate and highly specialised artisanship. Other works shed light on the metalworking tools themselves found in domestic contexts, with detailed analyses of their use during specific stages of the metalworking process. Special emphasis is given to the rare tools found in hoards and their significance in these ritual contexts. This conference intended to provide a forum for developing a better understanding of the role metalworking and metalworkers played in society, and of the evolution of that role during the period conventionally referred to as the Metal Ages.
in A. DI NAPOLI (ed.), Dalle crociate al dialogo. S. Francesco e Federico II sulle vie della Pace, Bari, pp. 219-230.
«Fraternità umana, islam e cristianesimo: riflessioni per una teologia cristiana dell’islam alla luce della Dichiarazione di Abu Dhabi», in A. DI NAPOLI (ed.), Dalle crociate al dialogo. S. Francesco e Federico II sulle vie della Pace, Bari 2022, 219-230. in Dalle crociate al dialogo2022 •
Asian Journal of Pharmaceutical & Clinical Research
OPTIMIZATION OF DRUG SOLUBILITY USING ASPEN PLUS: ACETYLSALICYLIC ACID (ASPIRIN) SOLUBILITY -A SECOND CASE STUDY2020 •
Humanities Journal of University of Zakho
The Impact of E-Marketing Channels on Online Consumer Buying BehaviorKultury Wschodniosłowiańskie - Oblicza i Dialog
Радянський джентльмен: український професор супроти викликів історії2019 •
2013 •
Parkinson's Disease
Mindfulness for Motor and Nonmotor Dysfunctions in Parkinson’s Disease2016 •
Proceedings of the Proceedings of the 1st Workshop on Multidisciplinary and Its Applications Part 1, WMA-01 2018, 19-20 January 2018, Aceh, Indonesia
Zakat on Sustainable Development Goals ( SDGs 2016-2030)2019 •
Developments in Marketing Science: Proceedings of the Academy of Marketing Science
The Efficacy of Sexualized Female Models in Young Adult-Male Oriented Cigarette Advertising2016 •
Boletín de la Sociedad Geológica Mexicana
Crustacea (Isopoda, Anomura, Brachyura) from the Cretaceous of Soh area (NW Isfahan) Central Iran2020 •
BIO Web of Conferences
Impact on Tannat wines aroma produced by different yeast using three vinification systems2019 •