Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.

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：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: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: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：: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：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:Genome-wide association studies (GWAS) have identified single nucleotide polymorphisms (SNPs) significantly associated with chronic obstructive pulmonary disease (COPD). However, many genetic variants show suggestive evidence for association but do not meet the strict threshold for genome-wide significance. ...

journal_title：Human genomics

authors： Morrow JD,Cho MH,Platig J,Zhou X,DeMeo DL,Qiu W,Celli B,Marchetti N,Criner GJ,Bueno R,Washko GR,Glass K,Quackenbush J,Silverman EK,Hersh CP

更新日期：2018-01-15 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：: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：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：: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：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: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：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：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: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：: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：:The increased availability of polymorphism resources for humans and high-throughput genotyping technologies account for the large number of genetic associations published every month. Resources that allow one to synthesise published data quickly and effectively are needed to keep up to date with such information. In a...

journal_title：Human genomics

authors： Soranzo N

更新日期：2004-05-01 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：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：: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：: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: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：: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：: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：BACKGROUND:Neurodegenerative diseases (NGDs) such as Alzheimer's and Parkinson's are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs indicate that neurodegeneration is a complex trait determined by multiple genes and by the environm...

journal_title：Human genomics

authors： Wang YA,Kammenga JE,Harvey SC

更新日期：2017-05-25 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：:Developing early detection biosensors for disease has been the long‒held goal of the Human Genome Project, but with little success. Conversely, the biological properties of the mitochondrion coupled with the relative simplicity of the mitochondrial genome give this organelle extraordinary functionality as a biosensor ...

journal_title：Human genomics

authors： Parr RL,Martin LH

更新日期：2012-07-05 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