Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features.

abstract：:The use of genomic technologies in biogerontology has the potential to greatly enhance our understanding of human ageing. High-throughput screens for alleles correlated with survival in long-lived people have uncovered novel genes involved in age-associated disease. Genome-wide longevity studies in simple eukaryotes a...

journal_title：Human genomics

authors： Kaeberlein M

更新日期：2006-06-01 00:00:00

abstract：:Despite the fact that ribosomal proteins are the constituents of an organelle that is present in every cell, they show a surprising level of regulation, and several of them have also been shown to have other extra-ribosomal functions, such in replication, transcription, splicing or even ageing. This review provides a ...

journal_title：Human genomics

authors： Bhavsar RB,Makley LN,Tsonis PA

更新日期：2010-06-01 00:00:00

abstract：:Perifosine belongs to the class of alkylphospholipid analogues, which act primarily at the cell membrane, thereby targeting signal transduction pathways. In phase I/II clinical trials, perifosine has induced tumour regression and caused disease stabilisation in a variety of tumour types. The genetic determinants respo...

journal_title：Human genomics

authors： Zhang W,Liu W,Poradosu E,Ratain MJ

更新日期：2008-09-01 00:00:00

abstract：BACKGROUND:Genetic factors such as single-nucleotide polymorphisms (SNPs) play a key role in the development of postoperative nausea and vomiting (PONV). However, previous findings are not widely applicable to different populations because of population-specific genetic variation. We developed a Japanese-specific DNA m...

journal_title：Human genomics

authors： Sugino S,Konno D,Kawai Y,Nagasaki M,Endo Y,Hayase T,Yamazaki-Higuchi M,Kumeta Y,Tachibana S,Saito K,Suzuki J,Kido K,Kurosawa N,Namiki A,Yamauchi M

更新日期：2020-09-14 00:00:00

abstract：:Rapid advances in human genomic research are increasing the availability of genomic data for secondary analysis. Particularly in the case of vulnerable African populations, ethics and informed consent processes need to be transparent--both to ensure participant protection, as well as to share skills and to evolve best...

journal_title：Human genomics

authors： Wright GE,Adeyemo AA,Tiffin N

更新日期：2014-10-22 00:00:00

abstract：BACKGROUND:Microbes are greatly associated with human health and disease, especially in densely populated cities. It is essential to understand the microbial ecosystem in an urban environment for cities to monitor the transmission of infectious diseases and detect potentially urgent threats. To achieve this goal, the D...

journal_title：Human genomics

authors： Zhou G,Jiang JY,Ju CJ,Wang W

更新日期：2019-10-22 00:00:00

abstract：:In the search for genetic determinants of complex disease, two approaches to association analysis are most often employed, testing single loci or testing a small group of loci jointly via haplotypes for their relationship to disease status. It is still debatable which of these approaches is more favourable, and under ...

journal_title：Human genomics

authors： Zhang X,Roeder K,Wallstrom G,Devlin B

更新日期：2003-11-01 00:00:00

abstract：:Recent studies in human genomes have demonstrated the use of de novo assemblies to identify genetic variations that are difficult for mapping-based approaches. Construction of multiple human genome assemblies is enabled by massively parallel sequencing, but a conventional bioinformatics solution is costly and slow, cr...

journal_title：Human genomics

authors： Li Y,Hu Y,Bolund L,Wang J

更新日期：2010-04-01 00:00:00

abstract：:Carboplatin is a chemotherapeutic agent used in the management of many cancers, yet treatment is limited by resistance and toxicities. To achieve a better understanding of the genetic contribution to carboplatin resistance or toxicities, lymphoblastoid cell lines from 34 large Centre d'Etude du Polymorphisme Humain pe...

journal_title：Human genomics

authors： Shukla SJ,Duan S,Wu X,Badner JA,Kasza K,Dolan ME

更新日期：2009-01-01 00:00:00

abstract：:Probe and primer design for single nucleotide polymorphism (SNP) detection can be very challenging for A-T DNA-rich targets, requiring long sequences with lower specificity and stability, while G-C-rich DNA targets present limited design options to lower GC-content sequences only. We have developed the MGB Eclipse Pro...

journal_title：Human genomics

authors： Belousov YS,Welch RA,Sanders S,Mills A,Kulchenko A,Dempcy R,Afonina IA,Walburger DK,Glaser CL,Yadavalli S,Vermeulen NM,Mahoney W

更新日期：2004-03-01 00:00:00

abstract：:Matrix metalloproteinases (MMPs) are a family of zinc proteases that degrade most of the components of the extracellular matrix (ECM). MMPs also have a number of non-traditional roles in processing factors related to cell growth/proliferation, inflammation and more. There are 23 human MMPs and 23 mouse MMPs, most of w...

journal_title：Human genomics

authors： Jackson BC,Nebert DW,Vasiliou V

更新日期：2010-02-01 00:00:00

abstract：:This paper reviews the theoretical basis for single nucleotide polymorphism (SNP) tagging and considers the use of current software made freely available for this task. A distinction between haplotype block-based and non-block-based approaches yields two classes of procedures. Analysis of two different sets of SNP gen...

journal_title：Human genomics

authors： Stram DO

更新日期：2005-06-01 00:00:00

abstract：BACKGROUND:Schwannomas are the most common neurofibromatosis type 2 (NF2)-associated tumors with significant phenotypic heterogeneity in patients. The most severe subtype has an early and rapid progression and the mild type has a later onset and a less aggressive course. The aim of this study was to elucidate the under...

journal_title：Human genomics

authors： Toren A,Reichardt JK,Andalibi A,Hsu NY,Doherty J,Slattery W,Mehrian-Shai R

更新日期：2014-06-30 00:00:00

abstract：BACKGROUND:Several genome-wide association studies have identified single-nucleotide polymorphisms (SNPs), such as rs4409766, rs1004467, and rs3824755 in CYP17A1 and rs2021783 in CYP21A2, as new hypertension susceptibility genetic variants in the Chinese population. This study aimed to look into the relationship betwee...

journal_title：Human genomics

authors： Hou B,Jia X,Deng Z,Liu X,Liu H,Yu H,Liu S

更新日期：2020-09-25 00:00:00

abstract：:The Metabolism and Transport Drug Interaction Database (http://www.druginteractioninfo.org) is a web-based research and analysis tool developed in the Department of Pharmaceutics at the University of Washington. The database has the largest manually curated collection of data related to drug interactions in humans. Th...

journal_title：Human genomics

authors： Hachad H,Ragueneau-Majlessi I,Levy RH

更新日期：2010-10-01 00:00:00

abstract：:The detection of alternative splicing using microarray technology involves multiple computational steps: normalisation, filtering, detection and visualisation. In this review, these analyses are approached using the R and Bioconductor open-source computation solution. There is some discussion on how to integrate diffe...

journal_title：Human genomics

authors： Phang T

更新日期：2009-12-01 00:00:00

abstract：BACKGROUND:Persistent infections that induce prolonged inflammation might negatively affect the leukocyte telomere length (LTL); however, the role in LTL of Helicobacter pylori (H. pylori) infection, which persistently colonizes the stomach, remains unknown. The study objective was to examine associations of sero-preva...

journal_title：Human genomics

authors： Muhsen K,Sinnreich R,Merom D,Nassar H,Cohen D,Kark JD

更新日期：2019-07-22 00:00:00

abstract：BACKGROUND:Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and molecular basis of a nov...

journal_title：Human genomics

authors： Alsemari A,Al-Younes B,Goljan E,Jaroudi D,BinHumaid F,Meyer BF,Arold ST,Monies D

更新日期：2017-11-14 00:00:00

abstract：BACKGROUND:Conotruncal heart defects (CTDs) are heterogeneous congenital heart malformations that result from outflow tract dysplasia; however, the genetic determinants underlying CTDs remain unclear. Increasing evidence demonstrates that dysfunctional TBX2 and TBX3 result in outflow tract malformations, implying that ...

journal_title：Human genomics

authors： Xie H,Zhang E,Hong N,Fu Q,Li F,Chen S,Yu Y,Sun K

更新日期：2018-09-17 00:00:00

abstract：:The recent surge in mitochondrial research has been driven by the identification of mitochondria-associated diseases and the role of mitochondria in apoptosis. Both of these aspects have identified mitochondrial analysis as a vital component of medical research. Moreover, mitochondria have been implicated in the proce...

journal_title：Human genomics

authors： Parr RL,Dakubo GD,Thayer RE,McKenney K,Birch-Machin MA

更新日期：2006-01-01 00:00:00

abstract：BACKGROUND:Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epilepsy is affected by many factors, approximately 20-30% of cases are caused by acquired conditions, but in the remaining cases, genetic factors play an important role. Early establishment of a specific diagnosis i...

journal_title：Human genomics

authors： Zhang L,Gao J,Liu H,Tian Y,Zhang X,Lei W,Li Y,Guo Y,Yu H,Yuan E,Liang L,Cui S,Zhang X

更新日期：2020-12-07 00:00:00

abstract：BACKGROUND:Recurrent implantation failure (RIF) is the failure of embryos to implant more than two times in a given individual. There is debate about a precise definition for RIF, but we consider more than two implantation failures for individuals who undergo in vitro fertilization-embryo transfer (IVF-ET) to constitut...

journal_title：Human genomics

authors： Lee JY,Ahn EH,Kim JO,Park HS,Ryu CS,Kim JH,Kim YR,Lee WS,Kim NK

更新日期：2019-12-16 00:00:00

abstract：:Copy number variants (CNVs) are important contributors to the human pathogenic genetic diversity as demonstrated by a number of cases reported in the literature. The high homology between repetitive elements may guide genomic stability which will give rise to CNVs either by non-allelic homologous recombination (NAHR) ...

journal_title：Human genomics

authors： Cardoso AR,Oliveira M,Amorim A,Azevedo L

更新日期：2016-09-23 00:00:00

abstract：:The translational pipeline for genomic medicine has been well defined. However, as with any rapidly changing technology, innovations are difficult to predict leading to the potential to disrupt anticipated translation. Examples of potential disruptors such as laboratory-developed tests, direct-to-consumer testing, and...

journal_title：Human genomics

authors： Williams MS

更新日期：2015-06-14 00:00:00

abstract：:The X chromosome and X-linked variants have largely been ignored in genome-wide and candidate association studies of infectious diseases due to the complexity of statistical analysis of the X chromosome. This exclusion is significant, since the X chromosome contains a high density of immune-related genes and regulator...

journal_title：Human genomics

authors： Schurz H,Salie M,Tromp G,Hoal EG,Kinnear CJ,Möller M

更新日期：2019-01-08 00:00:00

abstract：:In this review, we examine examples of conservation of protein structural motifs in unrelated or non-homologous proteins. For this, we have selected three DNA-binding motifs: the histone fold, the helix-turn-helix motif, and the zinc finger, as well as the globin-like fold. We show that indeed similar structures exist...

journal_title：Human genomics

authors： Sousounis K,Haney CE,Cao J,Sunchu B,Tsonis PA

更新日期：2012-08-02 00:00:00

abstract：:Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD prevalence increases with age, clinical phenotypes are heterogeneous and control collections are prone to high false-negative rates, as many control subjects are li...

journal_title：Human genomics

authors： Hageman GS,Gehrs K,Lejnine S,Bansal AT,Deangelis MM,Guymer RH,Baird PN,Allikmets R,Deciu C,Oeth P,Perlee LT

更新日期：2011-07-01 00:00:00

abstract：BACKGROUND:Recent advances in semiconductor sequencing platform (SSP) have provided new methods for preimplantation genetic diagnosis/screening (PGD/S). The present study aimed to evaluate the applicability and efficiency of SSP in PGD/S. METHODS:The artificial positive single-cell-like DNAs and normal single-cell sam...

journal_title：Human genomics

authors： Wang LY,Rao XQ,Luo YQ,Liu B,Peng CF,Chen D,Yan K,Qian YQ,Yang YM,Huang YZ,Chen M,Sun YX,Li HG,Ye YH,Jin F,Liu HL,Dong MY

更新日期：2019-01-03 00:00:00

abstract：:In silico toxicology methods are practical, evidence-based and high throughput, with varying accuracy. In silico approaches are of keen interest, not only to scientists in the private sector and to academic researchers worldwide, but also to the public. They are being increasingly evaluated and applied by regulators. ...

journal_title：Human genomics

authors： Valerio LG Jr

更新日期：2011-03-01 00:00:00

abstract：BACKGROUND:Next-generation sequencing (NGS) has been advancing the progress of detection of disease-associated genetic variants and genome-wide profiling of expressed sequences over the past decade. NGS enables the analyses of multiple regions of a genome in a single reaction format and has been shown to be a cost-effe...

journal_title：Human genomics

authors： Sultana N,Rahman M,Myti S,Islam J,Mustafa MG,Nag K

更新日期：2019-07-04 00:00:00