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Two patients with Canavan disease and structural modeling of a novel mutation.
(
Springer US
, 2017 , Article)
Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme, which catalyzes the hydrolysis ...
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.
Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina
(
Wiley
, 2019 , Article)
Familial exudative vitreoretinopathy (FEVR) is a rare congenital disorder characterized by a lack of blood vessel growth to the periphery of the retina with secondary fibrovascular proliferation at the vascular-avascular ...
Association of genetic variants with colorectal cancer in the extended MENA region: A systematic review
(
Bentham Science Publishers
, 2019 , Article)
Colorectal cancer (CRC) is the third most common cancer worldwide and the third leading cause of cancer-related death. It is a heterogeneous disease that develops through different genetic and epigenetic mechanisms. To ...
Maternal microbiota regulate glucocorticoids levels and placental development in mice
(
bioscientifica
, 2015 , Conference Proceedings)
The gut microbiota contributes to postnatal development and maturation by influencing barrier functions of the intestinal wall, the development of the immune system, and the utilisation of nutrients. Recent studies have ...
Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme
(
Springer US
, 2017 , Article)
Aspartoacylase (ASPA) is a zinc-dependent abundant enzyme in the brain, which catalyzes the conversion of N-acetyl aspartate (NAA) into acetate and aspartate. Mutations in the ASPA gene are associated with the development ...
In silico and in vivo models for Qatari-Specific classical homocystinuria as basis for development of novel therapies.
(
Wiley
, 2018 , Article)
Homocystinuria is a rare inborn error of methionine metabolism caused by cystathionine β-synthase (CBS) deficiency. The prevalence of homocystinuria in Qatar is 1:1,800 births, mainly due to a founder Qatari missense ...
The Implementation of an Integrated Management System at Qatar Biobank
(
Mary Ann Liebert Inc.
, 2019 , Article)
Qatar Biobank (QBB) is a platform that will make vital health research possible through its collection of samples and information on health and lifestyle from the local population of Qatar. The goal of QBB is to collect, ...
Amelioration of perivascular adipose inflammation reverses vascular dysfunction in a model of nonobese prediabetic metabolic challenge: potential role of antidiabetic drugs
(
Mosby Inc.
, 2019 , Article)
The onset of vascular impairment precedes that of diagnostic hyperglycemia in diabetic patients suggesting a vascular insult early in the course of metabolic dysfunction without a well-defined mechanism. Mounting evidence ...