about
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndromeThe possible threat of Zika virus in the Middle EastLINS, a modulator of the WNT signaling pathway, is involved in human cognitionFaulty initiation of proteoglycan synthesis causes cardiac and joint defectsSRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorderDefective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type MaroteauxDelineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsIdentification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in EmiratisMETTL23, a transcriptional partner of GABPA, is essential for human cognition.Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.A novel statin-mediated "prenylation block-and-release" assay provides insight into the membrane targeting mechanisms of small GTPases.A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.GTPases in protozoan parasites: tools for cell biology and chemotherapy.Intratumoral FoxP3+Helios+ Regulatory T Cells Upregulating Immunosuppressive Molecules Are Expanded in Human Colorectal Cancer.Preferential accumulation of regulatory T cells with highly immunosuppressive characteristics in breast tumor microenvironment.Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patientsEndoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia.A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotionMembrane targeting of Rab GTPases is influenced by the prenylation motifSuccess stories in genomic medicine from resource-limited countries.Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutationMutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patientsA novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.Novel genetic risk variants for pediatric celiac disease.Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Key Pharmacogenomic Considerations for Sickle Cell Disease Patients.Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations.Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.Multiple regions contribute to membrane targeting of Rab GTPases.A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
P50
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P50
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Bassam R. Ali
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Bassam R. Ali
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Bassam R. Ali
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Bassam R. Ali
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Bassam R. Ali
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P106
P1153
7102680376
P21
P31
P496
0000-0003-1306-6618
P569
2000-01-01T00:00:00Z