The HUGO Journal
SCOPUS (2009-2015)
1877-6566
1877-6558
Cơ quản chủ quản: N/A
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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 haplotypes
- 2011
Abstract 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 the haplotype profiles reconstructed using polymorphisms in
the regula...
Translational genomics in personalized medicine – scientific challenges en route to clinical practice
Tập 6 - Trang 1-9 - 2012
In the area of omics and translational bio(medical)sciences, there is an
increasing need to integrate, normalize, analyze, store and protect genomics
data. Large datasets and scientific knowledge are rationally combined into
valuable clinical information that ultimately will benefit human healthcare and
are en route to clinical practice. Data from biomarker discovery and Next
Generation Sequencing...
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...
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...
Genetic determinants of immune-response to a polysaccharide vaccine for typhoid
Tập 3 - Trang 17-30 - 2010
Differences in immunological response among vaccine recipients are determined
both by their genetic differences and environmental factors. Knowledge of
genetic determinants of immunological response to a vaccine can be used to
design a vaccine that circumvents immunogenetic restrictions. The currently
available vaccine for typhoid is a pure polysaccharide vaccine, immune response
to which is T-cel...
The impact of cis-acting polymorphisms on the human phenotype
Tập 5 - Trang 13-23 - 2011
Cis-acting polymorphisms that affect gene expression are now known to be
frequent, although the extent and mechanisms by which such variation affects the
human phenotype are, as yet, only poorly understood. Key signatures of
cis-acting variation are differences in gene expression that are tightly
associated with regulatory SNPs or expression Quantitative Trait Loci (eQTL) and
an imbalance of allel...
The GAMY Project: young people’s attitudes to genetics in the South Wales valleys
Tập 4 - Trang 49-60 - 2011
This paper explores young people’s attitudes to genetics. It describes a
qualitative study involving a group of teenagers in a deprived South Wales
valley town over a period of 18 months. The GAMY (Genetics and Merthyr Youth)
Project involved a series of interactions with participants, including 2
interviews, 4 group days and 4 genetics tasks through which these young people
learned about, and the...
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...