genetic predisposition to disease definition
human genome epidemiology 2nd edition building the evidence for using genetic information to improve health and prevent disease jan 2010
Ngày tải lên :
11/06/2014, 10:43
... Medical genetics—Methodology. 3. Genomics. I. Khoury, Muin J.
[DNLM: 1. Genetics, Medical—methods. 2. Genetic Diseases, Inborn—epidemiology. 3. Genetic
Predisposition to Disease epidemiology. 4. Genetic ... several case studies related to various diseases that attempt
to present an evolving knowledge base of the cumulative evidence on genetic var-
iation in a variety of human diseases. As the information ... point that is central to the search for moderate- to high-frequency
low- penetrance variants associated with human diseases and traits (12). Efforts to
replicate are necessary to guard against the...
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Tài liệu Báo cáo khoa học: Emerging pathways in genetic Parkinson’s disease: Autosomal-recessive genes in Parkinson’s disease – a common pathway? docx
Ngày tải lên :
18/02/2014, 14:20
... DJ-1 in mitochondrial function, the fact that
Drosophila lacking DJ-1 exhibit increased sensitivity to
environmental mitochondrial toxins [44,51] does point
to a role for DJ-1 in mitochondrial ... suggested to protect against oxidative stress by
phosphorylating the mitochondrial chaperone tumour
necrosis factor receptor-associated protein 1 (TRAP1)
Autosomal recessive genes in Parkinson’s disease ... activity and therefore contribute to the
accumulation of toxic Parkin substrates and decreased
ability of dopaminergic cells to cope with toxic insults in
PD [87]. To date, no direct phosphorylation...
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Tài liệu Báo cáo khoa học: Emerging pathways in genetic Parkinson’s disease: Potential role of ceramide metabolism in Lewy body disease pptx
Ngày tải lên :
18/02/2014, 14:20
... bodies [17–19].
Pantothenate kinase is an essential regulatory enzyme
in co-enzyme A biosynthesis, catalyzing the cytosolic
phosphorylation of pantothenate (vitamin B5),
N-pantothenoylcysteine ... the
brainstem and cortical areas.
Genetic research in the past decade has changed the
view of PD from an archetypical non -genetic disease
to one having a clear genetic basis in a percentage of
patients ... body disease J. Bras et al.
5772 FEBS Journal 275 (2008) 57675773 Journal compilation ê 2008 FEBS. No claim to original US government works
MINIREVIEW
Emerging pathways in genetic Parkinson’s disease:
Potential...
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MicroRNAs FROM BASIC SCIENCE TO DISEASE BIOLOGY docx
Ngày tải lên :
06/03/2014, 09:21
... 10021, USA
xii List of contributors
MicroRNAs
FROM BASIC SCIENCE TO DISEASE BIOLOGY
Edited by
Krishnarao Appasani
GeneExpression Systems, Inc.
Forewords by
Victor R. Ambros
Dartmouth Medical ... demonstrated in any
organism to date. In this book I intend to bring the various aspects of microRNA
research together, including the biology, applications, their role in stem cell and
disease biology. As ... volume describes genetic
and molecular studies of the roles of microRNAs in development and human
disease. The full scope of the involvement of microRNAs in human disease is
difficult to envision...
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Footprints of genetic susceptibility to pulmonary tuberculosis: Cytokine gene variants in north Indians pdf
Ngày tải lên :
29/03/2014, 03:20
... and therapy
to combat this pathogen. Also it could provide an
insightinto predictingindividual’s genetic proneness
to tuberculosisandofbeingfuturediagnostictoolfor
preventivetherapyagainsttuberculosis.
Material ... PCR
reaction.ThePCRproductwasfurtherpuriedbefore
theprimerextensionreaction to generateallele-specic
baseextensionproducts.Thebase-extensionproducts
weredetectedintheMALDI-TOFmassspectrometer to
determinegenotypes.
Genetic and statistical ... any
underlyingstructureinthestudypopulationthatcould
ABHIMANYUet al:CYTOKINEGENEVARIANTSINPTB 765
Footprintsof genetic susceptibility to pulmonarytuberculosis:
CytokinegenevariantsinnorthIndians
Abhimanyu,MridulaBose,PankajJha
*
&IndianGenomeVariationConsortium
Department...
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Báo cáo khoa học: The mitochondrial permeability transition from in vitro artifact to disease target ppt
Ngày tải lên :
30/03/2014, 11:20
... effector mechanism of cell death, how-
ever, only followed the demonstration that in the
course of apoptosis, cytochrome c is released into the
cytosol [72], together with apoptosis-inducing factor
[73] ... acid [257], in cell death
following facial motoneuron axotomy in neonatal
rodents [258] and in photoreceptor apoptosis [259].
Furthermore, mice with genetic inactivation of the
Ppif
– ⁄ –
gene ... release of cytochrome c
and other proapoptotic factors follow a PT in situ
needs to be verified in each experimental setting.
An interesting mechanism that links PTP opening to
release of cytochrome...
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Báo cáo khóa học: Genetic approaches to the cellular functions of polyamines in mammals potx
Ngày tải lên :
30/03/2014, 13:20
... accumulation during late
spermatogenesis appears to be detrimental to the germ cells
and, hence, antizyme 3 apparently functions to limit any
ODC expression to the early spermatogenesis. The trans-
gene-derived ... ternary
complex with the transcription factor Smad1 and protea-
somal subunit HsN3 that is translocated into nucleus in
response to bone morphogenetic protein receptor activation
[22]. In the nucleus, ... developed to
the blastocyst stage, i.e., to more advanced stage than
those grown in vitro in the presence of DFMO [136], was
in all likelihood attributable to maternal components
[139]. Attempts to...
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báo cáo hóa học:" Genetic Barriers to Resistance and Impact on Clinical Response" pptx
Ngày tải lên :
20/06/2014, 08:20
... With High Genetic Barriers to Resistance
Ideally, it would be preferable to have a regimen that is
highly potent, produces durable treatment responses, is
well tolerated, and has a wide genetic ... thereby limiting subsequent treatment options. In addition to the genetic barrier to
resistance, factors such as efficacy, safety, tolerability, convenience, and adherence must be
considered ... to acquire a sufficient
number of critical drug-resistance mutations to overcome
the anti-HIV activity of the drug regimen as a whole is
often referred to as the " ;genetic barrier" to...
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AMYLOIDOSIS – AN INSIGHT TO DISEASE OF SYSTEMS AND NOVEL THERAPIES docx
Ngày tải lên :
27/06/2014, 18:20
... worldwide. Acquired and
hereditary diseases can cause to AA amyloidosis, including chronic inflammatory diseases,
such as rheumatoid arthritis (RA), inflammatory bowel disease (IBD), familial Mediterranean ... hereditary periodic fever
syndromes, also called as autoinflammatory syndromes. Autoinflammatory diseases are
characterised by unprokoved inflammatory episodes without any recognizable pathogens. ... secondary to rheumatoid
arthritis. Mod Rheumatol 2008; 18: 109-118.
[17] Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country
as the primary risk factor for renal...
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AMYLOIDOSIS – AN INSIGHT TO DISEASE OF SYSTEMS AND NOVEL THERAPIES pot
Ngày tải lên :
28/06/2014, 00:20
... worldwide. Acquired and
hereditary diseases can cause to AA amyloidosis, including chronic inflammatory diseases,
such as rheumatoid arthritis (RA), inflammatory bowel disease (IBD), familial Mediterranean ... variation due in part to
geographic differences, possibly genetic factors, and also according to the study’s material
(i.e. biopsy or autopsy) and method (i.e. immunohistochemistry).
AA amyloidosis ... hereditary periodic fever
syndromes, also called as autoinflammatory syndromes. Autoinflammatory diseases are
characterised by unprokoved inflammatory episodes without any recognizable pathogens....
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