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A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
(
Springer Verlag
, 2017 , Article)
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl ...
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 ...
CD146, a novel target of CD44-signaling, suppresses breast tumor cell invasion.
(2017 , Article)
We have previously validated three novel CD44-downstream positively regulated transcriptional targets, including Cortactin, Survivin and TGF-β2, and further characterized the players underlying their separate signaling ...
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 ...
Canavan disease: an Arab scenario.
(
Elsevier Inc.
, 2015 , Article)
The autosomal recessive Canavan disease (CD) is a neurological disorder that begins in infancy. CD is caused by mutations in the gene encoding the ASPA enzyme. It has been reported with high frequency in patients with ...
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 ...
Association between Genetic Variants of GC Gene at 4q13.3 and Vitamin D Concentrations in Adult Females
(
Longdom
, 2019 , Article)
Background: Vitamin D binding protein, encoded by the GC gene (on 4q13.3), plays an important role in
transporting vitamin D. Several Genome-Wide Association Studies (GWASs) have established a significant
association ...
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 ...
Neutrophil Gelatinase Associated Lipocalin: Is not an Early Marker Inductor for Diabetic Nephropathy in Qatari Population
(
BJSTR
, 2019 , Article)
Background: The WHO Global Report on Diabetes (2016) showed that the number
of diabetic patients quadrupled between 1980 and 2016, while causing the death of 1.5
million people. While the global prevalence of diabetes ...