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  • An efficient estimator of the mutation parameter and analysis of polymorphism from the 1000 genomes project.

    abstract::The mutation parameter θ is fundamental and ubiquitous in the analysis of population samples of DNA sequences. This paper presents a new highly efficient estimator of θ by utilizing the phylogenetic information among distinct alleles in a sample of DNA sequences. The new estimator, called Allelic BLUE, is derived from...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes5030561

    authors: Fu Y

    更新日期:2014-07-22 00:00:00

  • Architecture of inherited susceptibility to colorectal cancer: a voyage of discovery.

    abstract::This review looks back at five decades of research into genetic susceptibility to colorectal cancer (CRC) and the insights these studies have provided. Initial evidence of a genetic basis of CRC stems from epidemiological studies in the 1950s and is further provided by the existence of multiple dominant predisposition...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes5020270

    authors: Whiffin N,Houlston RS

    更新日期:2014-03-27 00:00:00

  • Mechanisms of base substitution mutagenesis in cancer genomes.

    abstract::Cancer genome sequence data provide an invaluable resource for inferring the key mechanisms by which mutations arise in cancer cells, favoring their survival, proliferation and invasiveness. Here we examine recent advances in understanding the molecular mechanisms responsible for the predominant type of genetic altera...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes5010108

    authors: Bacolla A,Cooper DN,Vasquez KM

    更新日期:2014-03-05 00:00:00

  • Monogenic diabetes: a diagnostic algorithm for clinicians.

    abstract::Monogenic forms of beta cell diabetes account for approximately 1%-2% of all cases of diabetes, yet remain underdiagnosed. Overlapping clinical features with common forms of diabetes, make diagnosis challenging. A genetic diagnosis of monogenic diabetes in many cases alters therapy, affects prognosis, enables genetic ...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes4040522

    authors: Carroll RW,Murphy R

    更新日期:2013-09-26 00:00:00

  • Abnormal base excision repair at trinucleotide repeats associated with diseases: a tissue-selective mechanism.

    abstract::More than fifteen genetic diseases, including Huntington's disease, myotonic dystrophy 1, fragile X syndrome and Friedreich ataxia, are caused by the aberrant expansion of a trinucleotide repeat. The mutation is unstable and further expands in specific cells or tissues with time, which can accelerate disease progressi...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes4030375

    authors: Goula AV,Merienne K

    更新日期:2013-07-25 00:00:00

  • Trapping DNA replication origins from the human genome.

    abstract::Synthesis of chromosomal DNA is initiated from multiple origins of replication in higher eukaryotes; however, little is known about these origins' structures. We isolated the origin-derived nascent DNAs from a human repair-deficient cell line by blocking the replication forks near the origins using two different origi...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes4020198

    authors: Eki T,Murakami Y,Hanaoka F

    更新日期:2013-04-17 00:00:00

  • Factors behind junk DNA in bacteria.

    abstract::Although bacterial genomes have been traditionally viewed as being very compact, with relatively low amounts of repetitive and non-coding DNA, this view has dramatically changed in recent years. The increase of available complete bacterial genomes has revealed that many species present abundant repetitive DNA (i.e., i...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes3040634

    authors: Gil R,Latorre A

    更新日期:2012-10-12 00:00:00

  • Beyond junk-variable tandem repeats as facilitators of rapid evolution of regulatory and coding sequences.

    abstract::Copy Number Variations (CNVs) and Single Nucleotide Polymorphisms (SNPs) have been the major focus of most large-scale comparative genomics studies to date. Here, we discuss a third, largely ignored, type of genetic variation, namely changes in tandem repeat number. Historically, tandem repeats have been designated as...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes3030461

    authors: Gemayel R,Cho J,Boeynaems S,Verstrepen KJ

    更新日期:2012-07-26 00:00:00

  • The role of bromodomain proteins in regulating gene expression.

    abstract::Histone modifications are important in regulating gene expression in eukaryotes. Of the numerous histone modifications which have been identified, acetylation is one of the best characterised and is generally associated with active genes. Histone acetylation can directly affect chromatin structure by neutralising char...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes3020320

    authors: Josling GA,Selvarajah SA,Petter M,Duffy MF

    更新日期:2012-05-29 00:00:00

  • Comparison of the fecal microbiota in feral and domestic goats.

    abstract::Animals have co-evolved with mutualistic microbial communities, known as the microbiota, which are essential for organ development and function. We hypothesize that modern animal husbandry practices exert an impact on the intestinal microbiota. In this study, we compared the structure of the fecal microbiota between f...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes3010001

    authors: De Jesús-Laboy KM,Godoy-Vitorino F,Piceno YM,Tom LM,Pantoja-Feliciano IG,Rivera-Rivera MJ,Andersen GL,Domínguez-Bello MG

    更新日期:2011-12-21 00:00:00

  • Type Three Secretion System in Pseudomonas savastanoi Pathovars: Does Timing Matter?

    abstract::Pseudomonas savastanoi pv. savastanoi is the causal agent of Olive knot disease, relying on the Type Three Secretion System (TTSS) for its pathogenicity. In this regard, nothing was known about the two other pathovars belonging to this species, pv. nerii and pv. fraxini, characterized by a different host range. Here w...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes2040957

    authors: Tegli S,Gori A,Cerboneschi M,Cipriani MG,Sisto A

    更新日期:2011-11-25 00:00:00

  • The evolution of protein structures and structural ensembles under functional constraint.

    abstract::Protein sequence, structure, and function are inherently linked through evolution and population genetics. Our knowledge of protein structure comes from solved structures in the Protein Data Bank (PDB), our knowledge of sequence through sequences found in the NCBI sequence databases (http://www.ncbi.nlm.nih.gov/), and...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes2040748

    authors: Siltberg-Liberles J,Grahnen JA,Liberles DA

    更新日期:2011-10-28 00:00:00

  • Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts.

    abstract::In human pre-mRNA splicing, infrequent errors occur resulting in erroneous splice products as shown in a genome-wide approach. One characteristic subgroup consists of products lacking one cassette exon. The noise in the splicing process, represented by those misspliced products, can be increased by cold shock treatmen...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes2030562

    authors: Mellert K,Uhl M,Högel J,Lamla M,Kemkemer R,Kaufmann D

    更新日期:2011-08-02 00:00:00

  • Allelic imbalances in radiation-associated acute myeloid leukemia.

    abstract::Acute myeloid leukemia (AML) can develop as a secondary malignancy following radiotherapy, but also following low-dose environmental or occupational radiation exposure. Therapy-related AML frequently carries deletions of chromosome 5q and/or 7, but for low-dose exposure associated AML this has not been described. For ...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes2020384

    authors: Klymenko SV,Smida J,Atkinson MJ,Bebeshko VG,Nathrath M,Rosemann M

    更新日期:2011-05-31 00:00:00

  • Prospects and limitations of using endogenous neural stem cells for brain regeneration.

    abstract::Neural stem cells (NSCs) are capable of producing a variety of neural cell types, and are indispensable for the development of the mammalian brain. NSCs can be induced in vitro from pluripotent stem cells, including embryonic stem cells and induced-pluripotent stem cells. Although the transplantation of these exogenou...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes2010107

    authors: Kaneko N,Kako E,Sawamoto K

    更新日期:2011-01-14 00:00:00

  • Synaptonemal complex length variation in wild-type male mice.

    abstract::Meiosis yields haploid gametes following two successive divisions of a germ cell in the absence of intervening DNA replication. Balanced segregation of homologous chromosomes in Meiosis I is aided by a proteinaceous structure, the synaptonemal complex (SC). The objective of this study was to determine total average au...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes1030505

    authors: Vranis NM,Van der Heijden GW,Malki S,Bortvin A

    更新日期:2010-12-15 00:00:00

  • Role of Cell Division Autoantigen 1 (CDA1) in Cell Proliferation and Fibrosis.

    abstract::Cell Division Autoantigen 1 (CDA1) was discovered following screening a human expression library with serum from a patient with Discoid Lupus Erythematosus. CDA1, encoded by TSPYL2 on the X chromosome, shares anti-proliferative and pro‑fibrotic properties with TGF-b. It inhibits cell growth through p53, pERK1/2 and p2...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes1030335

    authors: Toh BH,Tu Y,Cao Z,Cooper ME,Chai Z

    更新日期:2010-09-30 00:00:00

  • Review of the Application of Modern Cytogenetic Methods (FISH/GISH) to the Study of Reticulation (Polyploidy/Hybridisation).

    abstract::The convergence of distinct lineages upon interspecific hybridisation, including when accompanied by increases in ploidy (allopolyploidy), is a driving force in the origin of many plant species. In plant breeding too, both interspecific hybridisation and allopolyploidy are important because they facilitate introgressi...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes1020166

    authors: Chester M,Leitch AR,Soltis PS,Soltis DE

    更新日期:2010-07-02 00:00:00

  • Next generation DNA sequencing and the future of genomic medicine.

    abstract::In the years since the first complete human genome sequence was reported, there has been a rapid development of technologies to facilitate high-throughput sequence analysis of DNA (termed "next-generation" sequencing). These novel approaches to DNA sequencing offer the promise of complete genomic analysis at a cost fe...

    journal_title:Genes

    pub_type: 杂志文章

    doi:10.3390/genes1010038

    authors: Anderson MW,Schrijver I

    更新日期:2010-05-25 00:00:00

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