Mitochondrial and nuclear genomics and the emergence of personalized medicine.

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：: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：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：: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：:The 'Statistical Analysis for Genetic Epidemiology' (S.A.G.E.) software package is an integrated, comprehensive package of computer programs designed to perform many of the different analyses required in the study of genetic epidemiology. It offers a graphical user interface for most platforms and, unlike many program...

journal_title：Human genomics

authors： Elston RC,Gray-McGuire C

更新日期：2004-11-01 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：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：: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：: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：: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：: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：: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：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：: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 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: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：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 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：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: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: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：: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：: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：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：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: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：: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：: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：: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：: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