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Structural modeling of p.V31F variant in the aspartoacylase gene.
(
Springer Verlag
, 2016 , Article)
Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain ...
Mendelian inheritance of trimodal CpG methylation sites suggests distal cis-acting genetic effects.
(
BioMed Central
, 2016 , Article)
Environmentally influenced phenotypes, such as obesity and insulin resistance, can be transmitted over multiple generations. Epigenetic modifications, such as methylation of DNA cytosine-guanine (CpG) pairs, may be carriers ...
Enhanced Identification of Transcriptional Enhancers Provides Mechanistic Insights into Diseases.
(
Cell Press
, 2016 , Article)
Enhancers are distal cis-regulatory DNA elements that increase the expression of target genes. Various experimental and computational approaches including chromatin signature profiling have been developed to predict enhancers ...
Accredited genetic testing in the Arab Gulf region: reinventing the wheel.
(
Nature Publishing Group
, 2016 , Article)
Accredited genetic testing in the Arab Gulf region: reinventing the wheel.
Frequency of Clinically Important RH and Kell Blood Group Antigens Among Blood Donors in Qatar
(
HBKU Press
, 2016 , Conference Paper)
Background
Very limited information is available about the prevalence of blood groups among Qatari population and residents. The information about frequencies of different blood group antigens is important to manage, ...
Assessment of morphological changes due to oxidative stress: leukodepleted packed red blood cells stored in SAGM
(
Canadian Society of Transfusion Medicine
, 2016 , Conference Paper)
Background:
In blood bank, the storage procedures of packed red blood cell (pRBC) require some conditions to ensure the maximum storage time for a safe blood supply. pRBC can be stored up to 42 days in 2-6⁰C, as long as ...
Novel 1,5-diphenyl-6-substituted 1H-pyrazolo[3,4-d]pyrimidin-4(5H)-ones induced apoptosis in RKO colon cancer cells
(
Taylor and Francis Ltd
, 2016 , Article)
Novel 1,5-diphenyl-6-substituted-1H-pyrazolo[3,4-d]pyrimidin-4(5H)-ones were synthesized and characterized. All compounds were screened for their anti-proliferative activities in five different cancer cell lines. The results ...
Activation of the pro-oxidant PKC?IIp66Shc Signaling pathway contributes to pericyte dysfunction in skeletal muscles of patients with diabetes with critical limb Ischemia
(
American Diabetes Association Inc.
, 2016 , Article)
Critical limb ischemia (CLI), foot ulcers, former amputation, and impaired regeneration are independent risk factors for limb amputation in subjects with diabetes. The present work investigates whether and by which mechanism ...
Prevalence of Virulence/Stress Genes in Campylobacter jejuni from Chicken Meat Sold in Qatari Retail Outlets
(
Public Library of Science
, 2016 , Article)
Chicken meat from the shelves of supermarkets in Qatar was tested for the presence of
Campylobacter spp. and the presence of five virulence genes (htrB, cdtB, clpP, cadF and
ciaB) was assessed in isolates. Forty eight ...
Activation of the Pro-Oxidant PKCβII-p66Shc Signaling Pathway Contributes to Pericyte Dysfunction in Skeletal Muscles of Diabetic Patients with Critical Limb Ischemia
(
American Diabetes Association
, 2016 , Article)
Critical limb ischemia (CLI), foot ulcers, former amputation and impaired regeneration are independent risk factors for limb amputation in diabetic subjects. The present work investigates whether and by which mechanism ...