解剖学和形态学
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行为科学
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细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
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综合和补充性医学
医学伦理学
医学信息学
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产科医学和妇科医学
肿瘤学
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药理学和药剂学
生理学
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健康政策和服务
心理学,临床
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
更新日期:2014-07-22 00:00:00
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
更新日期:2014-03-27 00:00:00
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
更新日期:2014-03-05 00:00:00
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
更新日期:2013-09-26 00:00:00
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
更新日期:2013-07-25 00:00:00
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
更新日期:2013-04-17 00:00:00
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
更新日期:2012-10-12 00:00:00
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
更新日期:2012-07-26 00:00:00
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
更新日期:2012-05-29 00:00:00
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
更新日期:2011-12-21 00:00:00
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
更新日期:2011-11-25 00:00:00
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
更新日期:2011-10-28 00:00:00
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
更新日期:2011-08-02 00:00:00
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
更新日期:2011-05-31 00:00:00
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
更新日期:2011-01-14 00:00:00
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
更新日期:2010-12-15 00:00:00
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
更新日期:2010-09-30 00:00:00
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
更新日期:2010-07-02 00:00:00
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
更新日期:2010-05-25 00:00:00