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Bioinformatics classification of mutations in patients with Mucopolysaccharidosis IIIA
(
Springer US
, 2019 , Article)
Mucopolysaccharidosis (MPS) IIIA, also known as Sanfilippo syndrome type A, is a severe, progressive disease that affects the central nervous system (CNS). MPS IIIA is inherited in an autosomal recessive manner and is ...
Computational model to analyze and characterize the functional mutations of NOD2 protein causing inflammatory disorder - Blau syndrome.
(
Elsevier
, 2020 , Article)
Blau syndrome (BS), which affects the eyes, skin, and joints, is an autosomal dominant genetic inflammatory disorder. BS is caused by mutations in the NOD2 gene. However, there are no direct treatments, and treatment with ...
Bladder neoplasms and NF-κB: an unfathomed association.
(
Taylor & Francis
, 2020 , Article)
Bladder cancer is the second most common genitourinary tract cancer and is often recurrent and/or chemoresistant after tumor resection. Cigarette smoking, exposure to aromatic amines, and chronic infection/inflammation are ...
Genetic Variants Associated With Alzheimer Disease in the 22 Arab Countries: A Systematic Review.
(
Lippincott, Williams & Wilkins
, 2021 , Article)
Alzheimer disease (AD) is a progressive and complex neurodegenerative disease. Approximately 70% of AD risk is attributed to genetic risk factors, including variants in amyloid precursor protein (APP), presenilin 1 (PSEN1), ...
Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson's and Gaucher diseases.
(
Springer
, 2018 , Article)
Gaucher's disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and specific organs. It is broadly classified into type I, type II and type III. Patients with GD are at high risk of Parkinson's ...
Krabbe Disease in the Arab World
(
IOS Press
, 2015 , Article)
The autosomal recessive inherited Krabbe disease (KD) is a devastating pediatric lysosomal storage disorder affecting white matter of the brain. It is caused by mutations in the gene coding for the lysosomal enzyme ...
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
(
Taylor & Francis
, 2020 , Article)
Krabbe disease (KD), also known as globoid cell leukodystrophy disease, is an autosomal recessive lysosomal storage genetic disorder, which is caused by the deficiecncy of galactocerebrosidase (GALC) coding gene (). This ...
Comprehensive in silico screening and molecular dynamics studies of missense mutations in Sjogren-Larsson syndrome associated with the ALDH3A2 gene.
(
Elsevier
, 2020 , Article)
Sjögren-Larsson syndrome (SLS) is an autoimmune disorder inherited in an autosomal recessive pattern. To date, 80 missense mutations have been identified in association with the Aldehyde Dehydrogenase 3 Family Member A2 ...
Durable immunity to oncogenic human papillomaviruses elicited by adjuvanted recombinant Adeno-associated virus-like particle immunogen displaying L2 17–36 epitopes
(
Elsevier, Ltd
, 2015 , Article)
Vaccination with the minor capsid protein L2, notably the 17–36 neutralizing epitope, induces broadly protective antibodies, although the neutralizing titers attained in serum are substantially lower than for the licensed ...
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.