The HUGO Journal
1877-6566
1877-6558
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Các bài báo tiêu biểu
Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer
- 2009
Haplotype variation in the ACE gene in global populations, with special reference to India, and an alternative model of evolution of haplotypesAbstract
Angiotensin-I-converting enzyme (ACE) is known to be associated with human cardiovascular and psychiatric pathophysiology. We have undertaken a global survey of the haplotypes in ACE gene to study diversity and to draw inferences on the nature of selective forces that may be operating on this gene. We have investigated ... ... hiện toàn bộ
- 2011
The extent of functionality in the human genome
Tập 7 - Trang 1-4 - 2013
Recently articles have been published disputing the main finding of the ENCODE project that the majority of the human genome exhibits biochemical indices of function, based primarily on low sequence conservation and the existence of larger genomes in some ostensibly simpler organisms (the C-value enigma), indicating the likely presence of significant amounts of junk. Here we challenge these argume...... hiện toàn bộ
An economic perspective on personalized medicine
Tập 7 - Trang 1-6 - 2013
The concept of personalized medicine not only promises to enhance the life of patients and increase the quality of clinical practice and targeted care pathways, but also to lower overall healthcare costs through early-detection, prevention, accurate risk assessments and efficiencies in care delivery. Current inefficiencies are widely regarded as substantial enough to have a significant impact on t...... hiện toàn bộ
Current and emerging therapeutic strategies for Fanconi anemia
Tập 6 - Trang 1-8 - 2012
Fanconi Anemia (FA) is a rare disorder with incidence of 1in 350,000 births. It is characterized by progressive bone marrow failure leading to death of many patients in their childhood while development of cancer at later stages of life in some. The treatment of FA is still a medical challenge. Current treatments of FA include androgen administration, hematopoietic growth factors administration an...... hiện toàn bộ
Genome-wide identification and annotation of HIF-1α binding sites in two cell lines using massively parallel sequencing
Tập 4 - Trang 35-48 - 2011
We identified 531 and 616 putative HIF-1α target sites by ChIP-Seq in the cancerous cell line DLD-1 and the non-cancerous cell line TIG-3, respectively. We also examined the positions and expression levels of transcriptional start sites (TSSs) in these cell lines using our TSS-Seq method. We observed that 121 and 48 genes in DLD-1 and TIG-3 cells, respectively, had HIF-1α binding sites in proximal...... hiện toàn bộ
Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development
Tập 3 - Trang 31-40 - 2010
Multiple lines of evidence suggest regulatory variation to play an important role in phenotypic evolution and disease development, but few regulatory polymorphisms have been characterized genetically and molecularly. Recent technological advances have made it possible to identify bona fide regulatory sequences experimentally on a genome-wide scale and opened the window for the biological interroga...... hiện toàn bộ