Exploration of CYP21A2 and CYP17A1 polymorphisms and preeclampsia risk among Chinese Han population: a large-scale case-control study based on 5021 subjects.

abstract：BACKGROUND:Long non-coding RNAs (lncRNAs) have previously been emerged as key players in a series of biological processes. Dysregulation of lncRNA is correlated to human diseases including neurological disorders. Here, we developed a multi-step bioinformatics analysis to study the functions of a particular Down syndrom...

journal_title：Human genomics

authors： Chen M,Wang J,Luo Y,Huang K,Shi X,Liu Y,Li J,Lai Z,Xue S,Gao H,Chen A,Chen D

更新日期：2018-01-19 00:00:00

abstract：:The finding, during the last decade, that several common, clinically delineated syndromes are caused by submicroscopic deletions or, more rarely, by duplications, has provided a powerful tool in the annotation of the human genome. Since most microdeletion/microduplication syndromes are defined by a common deleted/dupl...

journal_title：Human genomics

authors： Devriendt K,Vermeesch JR

更新日期：2004-01-01 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：: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：: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:The human genome contains millions of single nucleotide polymorphisms (SNPs); many of these SNPs are intronic and have unknown functional significance. SNPs occurring within intron branchpoint sites, especially at the adenine (A), would presumably affect splicing; however, this has not been systematically st...

journal_title：Human genomics

authors： Chiang HL,Wu JY,Chen YT

更新日期：2017-11-09 00:00:00

abstract：BACKGROUND:Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number variation (CNV) at AMY1 on salivary amylase protein production are less well understood. The amylase...

journal_title：Human genomics

authors： Carpenter D,Mitchell LM,Armour JA

更新日期：2017-02-20 00:00:00

abstract：BACKGROUND:Osteogenesis imperfecta (OI) comprises a clinically and genetically heterogeneous group of connective tissue disorders, characterized by low bone mass, increased bone fragility, and blue-gray eye sclera. OI often results from missense mutations in one of the conserved glycine residues present in the Gly-X-Y ...

journal_title：Human genomics

authors： Maasalu K,Nikopensius T,Kõks S,Nõukas M,Kals M,Prans E,Zhytnik L,Metspalu A,Märtson A

更新日期：2015-05-10 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：: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：: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:Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal disease. Mutations in polycystin-1 occur in 87% of cases of ADPKD and mutations in polycystin-2 are...

journal_title：Human genomics

authors： de Almeida RM,Clendenon SG,Richards WG,Boedigheimer M,Damore M,Rossetti S,Harris PC,Herbert BS,Xu WM,Wandinger-Ness A,Ward HH,Glazier JA,Bacallao RL

更新日期：2016-11-21 00:00:00

abstract：BACKGROUND:Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Approximately 90% of classic MFS patients have a FBN1 mutation that can be identified by single-gene sequencing or gene-panel sequencing targeting FBN1. However, a small proportion of MFS patients ...

journal_title：Human genomics

authors： Yang H,Ma Y,Luo M,Zhao K,Zhang Y,Zhu G,Sun X,Luo F,Wang L,Shu C,Zhou Z

更新日期：2018-10-04 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

abstract：UNLABELLED:Protein kinases play important roles in regulating signal transduction in eukaryotic cells. Due to evolutionary conserved binding sites in the catalytic domain of the kinases, most inhibitors that target these sites promiscuously inhibit multiple kinases. Quantitative analysis can reveal complex and unexpect...

journal_title：Human genomics

authors： Kim J,Yoo M,Kang J,Tan AC

更新日期：2013-09-23 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：:There is evidence that genetic polymorphisms and environmentally induced epigenetic changes play an important role in modifying disease risk. The commensal microbiota has the ability to affect the cellular environment throughout the body without requiring direct contact; for example, through the generation of a pro-in...

journal_title：Human genomics

authors： Nayyar A,Gindina S,Barron A,Hu Y,Danias J

更新日期：2020-03-13 00:00:00

abstract：BACKGROUND:Whole-exome sequencing (WES) over the last few years has been increasingly employed for clinical diagnosis. However, one caveat with its use is that it inevitably fails to detect disease-causative variants that occur within noncoding RNA genes. Our experience in identifying pathogenic variants in the noncodi...

journal_title：Human genomics

authors： Wang Y,Wu X,Du L,Zheng J,Deng S,Bi X,Chen Q,Xie H,Férec C,Cooper DN,Luo Y,Fang Q,Chen JM

更新日期：2018-01-25 00:00:00

abstract：:Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation of molecules that are important in cellular processes, like retinoic acid, betaine and gamma-aminobutyric acid. ALDHs exhibit additional, non-enz...

journal_title：Human genomics

authors： Jackson B,Brocker C,Thompson DC,Black W,Vasiliou K,Nebert DW,Vasiliou V

更新日期：2011-05-01 00:00:00

abstract：:The cytosine-guanine (CpG) dinucleotide has long been known to be a hotspot for pathological mutation in the human genome. This hypermutability is related to its role as the major site of cytosine methylation with the attendant risk of spontaneous deamination of 5-methylcytosine (5mC) to yield thymine. Cytosine methyl...

journal_title：Human genomics

authors： Cooper DN,Mort M,Stenson PD,Ball EV,Chuzhanova NA

更新日期：2010-08-01 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：: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：: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：BACKGROUND:Genome-wide association studies (GWAS) have significantly contributed to the association of many clinical conditions and phenotypic characteristics with genomic variants. The majority of these genomic findings have been deposited to the GWAS catalog. So far, findings uncovering associations of single nucleot...

journal_title：Human genomics

authors： Koromina M,Koutsilieri S,Patrinos GP

更新日期：2020-01-15 00:00:00

abstract：BACKGROUND:Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened up new approaches for non-invasive prenatal testing. With the development of whole-genome sequencing, small subchromosomal deletions and duplications could be found by NIPT. This study is to review the efficacy of NIPT as a screen...

journal_title：Human genomics

authors： Chen Y,Yu Q,Mao X,Lei W,He M,Lu W

更新日期：2019-11-29 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：:The past few decades have witnessed much progress in the field of pharmacogenetics. The identification of the genetic background that regulates the antidepressant response has benefited from these advances. This review focuses on the pharmacogenetics of the antidepressant response through the analysis and discussion o...

journal_title：Human genomics

authors： Drago A,De Ronchi D,Serretti A

更新日期：2009-04-01 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 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