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DaYang Chen et al.
Scientific reports, 8(1), 4963-4963 (2018-03-23)
Research based on a strategy of single-cell low-coverage whole genome sequencing (SLWGS) has enabled better reproducibility and accuracy for detection of copy number variations (CNVs). The whole genome amplification (WGA) method and sequencing platform are critical factors for successful SLWGS
Eric J Forman et al.
Fertility and sterility, 98(3), 644-649 (2012-05-23)
To assess the impact of oocyte vitrification on aneuploidy and reproductive potential by comparing vitrified and control oocytes from a single patient within a single cycle and a single fresh transfer. Paired randomized controlled trial in which each patient's cohort
José Carlos Pansonato-Alves et al.
PloS one, 9(9), e107169-e107169 (2014-09-17)
Chromosome painting with DNA probes obtained from supernumerary (B) and sex chromosomes in three species of fish genus Characidium (C. gomesi, C. pterostictum and C. oiticicai) showed a close resemblance in repetitive DNA content between B and sex chromosomes in
Wen Fong Ooi et al.
Nature communications, 7, 12983-12983 (2016-09-30)
Regulatory enhancer elements in solid tumours remain poorly characterized. Here we apply micro-scale chromatin profiling to survey the distal enhancer landscape of primary gastric adenocarcinoma (GC), a leading cause of global cancer mortality. Integrating 110 epigenomic profiles from primary GCs
Sara Franceschi et al.
Oncotarget, 9(35), 24014-24027 (2018-05-31)
Glioblastoma is a devastating disease that despite all the information gathered so far, its optimal management remains elusive due to the absence of validated targets from clinical studies. A better clarification of the molecular mechanisms is needed. In this study
Susan Gribble et al.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 12(2), 143-151 (2004-04-01)
We have used OmniPlex library technology to construct chromosome painting probes from single copies of flow sorted chromosomes. We show that this whole genome amplification technology is particularly efficient at amplifying single copies of chromosomes for the production of paints
Jochen B Geigl et al.
Nature protocols, 2(12), 3173-3184 (2007-12-15)
A comprehensive genomic analysis of single cells is instrumental for numerous applications in tumor genetics, clinical diagnostics and forensic analyses. Here, we provide a protocol for single-cell isolation and whole genome amplification, which includes the following stages: preparation of single-cell
Abdul Hakim Elnfati et al.
Genomics data, 7, 175-177 (2016-03-17)
During spermiogenesis in mammals and many other vertebrate classes, histone-containing nucleosomes are replaced by protamine toroids, which can repackage chromatin at a 10 to 20-fold higher density than in a typical somatic nucleus. However, recent evidence suggests that sperm of
PingYuan Xie et al.
Fertility and sterility, 112(2), 336-342 (2019-05-20)
To determine factors affecting unbalanced chromosomal rearrangement originating from parental inversion and interchromosomal effect occurrence in blastocysts from inversion carriers. Retrospective study. University-affiliated center. Couples with one partner carrying inversion underwent preimplantation genetic testing for chromosomal structural rearrangement cycles. Not
Dehua Cheng et al.
Journal of assisted reproduction and genetics, 38(1), 243-250 (2020-10-24)
To elucidate the genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and provide appropriate strategies of assisted reproductive therapy (ART). Two similar couples having a child with global developmental delay/intellectual disability symptoms attended the
E J Forman et al.
Human reproduction (Oxford, England), 28(2), 502-508 (2012-11-22)
When a chromosome aneuploidy is detected in the first polar body and a reciprocal loss or gain of the same chromosome is detected in the second polar body, is the resulting embryo usually aneuploid for that chromosome? When reciprocal aneuploidy
Sherif El-Sharnouby et al.
PLoS genetics, 9(10), e1003842-e1003842 (2013-10-23)
The Drosophila spermatogenesis cell differentiation pathway involves the activation of a large set of genes in primary spermatocytes. Most of these genes are activated by testis-specific TATA-binding protein associated factors (tTAFs). In the current model for the activation mechanism, Polycomb
Eunhee Choi et al.
Cell, 166(3), 567-581 (2016-07-05)
Insulin signaling regulates many facets of animal physiology. Its dysregulation causes diabetes and other metabolic disorders. The spindle checkpoint proteins MAD2 and BUBR1 prevent precocious chromosome segregation and suppress aneuploidy. The MAD2 inhibitory protein p31(comet) promotes checkpoint inactivation and timely
Young Chung et al.
Cloning and stem cells, 11(2), 213-223 (2009-02-04)
There is renewed interest in using animal oocytes to reprogram human somatic cells. Here we compare the reprogramming of human somatic nuclei using oocytes obtained from animal and human sources. Comparative analysis of gene expression in morula-stage embryos was carried
Kira S Zadesenets et al.
Scientific reports, 7(1), 6066-6066 (2017-07-22)
The free-living flatworm Macrostomum lignano is a model organism for evolutionary and developmental biology studies. Recently, an unusual karyotypic diversity was revealed in this species. Specifically, worms are either 'normal' 2n = 8, or they are aneuploid with one or two additional
Leif C Lindeman et al.
PloS one, 5(12), e15651-e15651 (2010-12-29)
Uncovering epigenetic states by chromatin immunoprecipitation and microarray hybridization (ChIP-chip) has significantly contributed to the understanding of gene regulation at the genome-scale level. Many studies have been carried out in mice and humans; however limited high-resolution information exists to date
Brian P Hermann et al.
Cell stem cell, 11(5), 715-726 (2012-11-06)
Spermatogonial stem cells (SSCs) maintain spermatogenesis throughout a man's life and may have application for treating some cases of male infertility, including those caused by chemotherapy before puberty. We performed autologous and allogeneic SSC transplantations into the testes of 18
Davide F Robbiani et al.
Molecular cell, 36(4), 631-641 (2009-11-28)
Cancer-initiating translocations such as those associated with lymphomas require the formation of paired DNA double-strand breaks (DSBs). Activation-induced cytidine deaminase (AID) produces widespread somatic mutation in mature B cells; however, the extent of "off-target" DSB formation and its role in
Jia-Hui Ng et al.
Developmental cell, 24(3), 324-333 (2013-01-29)
The limited number of in vivo germ cells poses an impediment to genome-wide studies. Here, we applied a small-scale chromatin immunoprecipitation sequencing (ChIP-seq) method on purified mouse fetal germ cells to generate genome-wide maps of four histone modifications (H3K4me3, H3K27me3
Claire A Higgins et al.
Proceedings of the National Academy of Sciences of the United States of America, 110(49), 19679-19688 (2013-10-23)
De novo organ regeneration has been observed in several lower organisms, as well as rodents; however, demonstrating these regenerative properties in human cells and tissues has been challenging. In the hair follicle, rodent hair follicle-derived dermal cells can interact with
Kunio Kitada et al.
Genes, chromosomes & cancer, 50(4), 217-227 (2011-02-15)
Analysis of structural rearrangements at the individual chromosomal level is still technologically challenging. Here we optimized a chromosome isolation method using fluorescent marker-assisted laser-capture and laser-beam microdissection and applied it to structural analysis of two aberrant chromosomes found in a
Marta N Shahbazi et al.
Nature communications, 11(1), 3987-3987 (2020-08-12)
Aneuploidy, the presence of an abnormal number of chromosomes, is a major cause of early pregnancy loss in humans. Yet, the developmental consequences of specific aneuploidies remain unexplored. Here, we determine the extent of post-implantation development of human embryos bearing
Juliette Auvinet et al.
BMC evolutionary biology, 20(1), 39-39 (2020-03-21)
Chromosomal rearrangements are thought to be an important driving force underlying lineage diversification, but their link to speciation continues to be debated. Antarctic teleost fish of the family Nototheniidae (Notothenioidei) diversified in a changing environmental context, which led to ecological
Jose Paolo Magbanua et al.
Molecular and cellular biology, 35(1), 318-330 (2014-11-05)
Although the majority of genomic binding sites for the insulator protein CCCTC-binding factor (CTCF) are constitutively occupied, a subset show variable occupancy. Such variable sites provide an opportunity to assess context-specific CTCF functions in gene regulation. Here, we have identified
Ping Yuan et al.
Journal of assisted reproduction and genetics, 38(3), 709-718 (2021-01-08)
The aim of this study was to determine factors affecting the chromosome imbalance in blastocysts and reproductive outcomes by a comparison between the reciprocal translocation (REC), inversion (INV), and Robertsonian translocation (ROB) carriers. Couples with one partner carrying translocation or
Christopher E Barbieri et al.
Nature genetics, 44(6), 685-689 (2012-05-23)
Prostate cancer is the second most common cancer in men worldwide and causes over 250,000 deaths each year. Overtreatment of indolent disease also results in significant morbidity. Common genetic alterations in prostate cancer include losses of NKX3.1 (8p21) and PTEN
Tamir Biezuner et al.
Scientific reports, 11(1), 17171-17171 (2021-08-27)
Advances in whole genome amplification (WGA) techniques enable understanding of the genomic sequence at a single cell level. Demand for single cell dedicated WGA kits (scWGA) has led to the development of several commercial kit. To this point, no robust
Elkin Y Suárez-Villota et al.
Cytogenetic and genome research, 143(4), 232-240 (2014-09-18)
Unlike the X chromosome, the mammalian Y chromosome undergoes evolutionary decay resulting in small size. This sex chromosomal heteromorphism, observed in most species of the fossorial rodent Ctenomys, contrasts with the medium-sized, homomorphic acrocentric sex chromosomes of closely related C.
Elisabeth Ullrich et al.
Journal of biotechnology, 310, 80-88 (2020-02-06)
We have identified 24 molecular markers, based on circulating nucleic acids (CNA) originating from the human genome, which in combination can be used in a quantitative real-time PCR (qPCR) assay to identify the presence of human sepsis, starting two to
Remi Klotz et al.
Cancer discovery, 10(1), 86-103 (2019-10-12)
Hematogenous metastasis is initiated by a subset of circulating tumor cells (CTC) shed from primary or metastatic tumors into the blood circulation. Thus, CTCs provide a unique patient biopsy resource to decipher the cellular subpopulations that initiate metastasis and their
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