Novel age-dependent targets in vestibular schwannomas.

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：: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：: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：: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：: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：: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: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：: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：: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：: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：: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: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：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: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：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: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: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：: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：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: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: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：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 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: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: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: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：: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: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