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Novel mutation in an Egyptian patient with infantile Canavan disease.
(
Springer Verlag (Germany)
, 2016 , 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 that catalyzes the deacetylation ...
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 ...
Propionic acidemia in the Arab World.
(
Elsevier
, 2015 , Article)
The autosomal recessive disease propionic acidemia (PA) is an inborn error of metabolism with highly variable clinical manifestations, caused by a deficiency of propionyl-CoA carboxylase (PCC) enzyme, due to mutations in ...
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 ...
An Arab registry for type 1 diabetes: global benefits for type 1 diabetes patients
(
Taylor & Francis
, 2016 , Article)
BACKGROUND:
The Arab world encompasses twenty-two Arabic-speaking countries, where the rate of consanguinity can exceed 50%. Type 1 diabetes (T1D), a chronic disorder that requires lifelong treatment, is believed to be ...
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.
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 ...
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 ...