Bassam R Ali

Bassam R Ali

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Bassam R Ali

Bassam R Ali

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Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.

J Mol Neurosci 2020 Mar;70(3):320-327

Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1007/s12031-019-01415-8DOI Listing
March 2020

A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

J Mol Neurosci 2020 Jan 29;70(1):45-55. Epub 2019 Aug 29.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box: 17666, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1007/s12031-019-01398-6DOI Listing
January 2020

Disorders of FZ-CRD; insights towards FZ-CRD folding and therapeutic landscape.

Mol Med 2019 Dec 31;26(1). Epub 2019 Dec 31.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates.

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http://dx.doi.org/10.1186/s10020-019-0129-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938638PMC
December 2019

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia.

FEBS Open Bio 2019 Nov 23;9(11):1994-2005. Epub 2019 Oct 23.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/2211-5463.12740DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823279PMC
November 2019

A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.

Child Neurol Open 2019 8;6:2329048X19880647. Epub 2019 Oct 8.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1177/2329048X19880647DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852354PMC
October 2019

DNA methylation and repressive H3K9 and H3K27 trimethylation in the promoter regions of PD-1, CTLA-4, TIM-3, LAG-3, TIGIT, and PD-L1 genes in human primary breast cancer.

Clin Epigenetics 2018 15;10:78. Epub 2018 Jun 15.

1Cancer Research Center, Qatar Biomedical Research Institute, College of Science and Engineering, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.

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https://clinicalepigeneticsjournal.biomedcentral.com/article
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http://dx.doi.org/10.1186/s13148-018-0512-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003083PMC
May 2019

Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in .

Mol Syndromol 2019 May 6;10(3):171-176. Epub 2019 Mar 6.

Department of Pediatrics, United Arab Emirates University, Al Ain, UAE.

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http://dx.doi.org/10.1159/000497337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6528082PMC
May 2019

variants as significant predictors of warfarin dose in Emiratis.

Pharmgenomics Pers Med 2019 17;12:47-57. Epub 2019 Apr 17.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.2147/PGPM.S187350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489578PMC
April 2019

A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease.

Clin Genet 2018 12 11;94(6):586-587. Epub 2018 Oct 11.

College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/cge.13443
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http://dx.doi.org/10.1111/cge.13443DOI Listing
December 2018

West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations.

Epileptic Disord 2018 Oct;20(5):401-412

Division of Neurology, Department of Pediatrics, Tawam Hospital, Al Ain, Department of Pediatrics, College of Medicine and Health Sciences UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1684/epd.2018.1005DOI Listing
October 2018

A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.

Am J Med Genet A 2018 09 28;176(9):1996-2003. Epub 2018 Jul 28.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.40424DOI Listing
September 2018

Dual inhibition of STAT1 and STAT3 activation downregulates expression of PD-L1 in human breast cancer cells.

Expert Opin Ther Targets 2018 06 2;22(6):547-557. Epub 2018 May 2.

a Cancer Research Center , Qatar Biomedical Research Institute, College of Science and Engineering, Hamad Bin Khalifa University, Qatar Foundation , Doha , Qatar.

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https://www.tandfonline.com/doi/full/10.1080/14728222.2018.1
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http://dx.doi.org/10.1080/14728222.2018.1471137DOI Listing
June 2018

Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.

BMC Med Genet 2018 03 2;19(1):34. Epub 2018 Mar 2.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0540-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834892PMC
March 2018

Degradation routes of trafficking-defective VLDLR mutants associated with Dysequilibrium syndrome.

Sci Rep 2018 01 25;8(1):1583. Epub 2018 Jan 25.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, Abu Dhabi, United Arab Emirates.

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http://dx.doi.org/10.1038/s41598-017-19053-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785505PMC
January 2018

Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis.

PLoS One 2017 21;12(9):e0183424. Epub 2017 Sep 21.

Department of Pharmacology, College of Medicine and Health Sciences, UAE University, Al Ain, Abu Dhabi, United Arab Emirates.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0183424PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5608188PMC
October 2017

Studies on N-Acetyltransferase (NAT2) Genotype Relationships in Emiratis: Confirmation of the Existence of Phenotype Variation among Slow Acetylators.

Ann Hum Genet 2017 Sep 27;81(5):190-196. Epub 2017 Jun 27.

Department of Pharmacology, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1111/ahg.12198DOI Listing
September 2017

Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II.

Am J Med Genet A 2017 Jul 30;173(7):1773-1781. Epub 2017 Apr 30.

Department of Paediatrics, College of Medicine and Health Sciences, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.38244DOI Listing
July 2017

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Front Pharmacol 2017 7;8:448. Epub 2017 Jul 7.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates UniversityAl Ain, United Arab Emirates.

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http://dx.doi.org/10.3389/fphar.2017.00448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500627PMC
July 2017

Key Pharmacogenomic Considerations for Sickle Cell Disease Patients.

OMICS 2017 06 9;21(6):314-322. Epub 2017 May 9.

1 Department of Pharmacy, School of Health Sciences, University of Patras , Patras, Greece .

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http://dx.doi.org/10.1089/omi.2017.0058DOI Listing
June 2017

A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss.

Am J Med Genet A 2017 May 21;173(5):1257-1263. Epub 2017 Mar 21.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.38153DOI Listing
May 2017

Preferential accumulation of regulatory T cells with highly immunosuppressive characteristics in breast tumor microenvironment.

Oncotarget 2017 05;8(20):33159-33171

Cancer Research Center, Qatar Biomedical Research Institute, College of Science and Engineering, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.

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http://dx.doi.org/10.18632/oncotarget.16565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464858PMC
May 2017

Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations.

Pharmacogenomics 2017 May 4;18(7):687-699. Epub 2017 May 4.

Department of Pathology, College of Medicine & Health Sciences, United Arab Emirates University, United Arab Emirates.

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http://dx.doi.org/10.2217/pgs-2017-0005DOI Listing
May 2017

Intratumoral FoxP3Helios Regulatory T Cells Upregulating Immunosuppressive Molecules Are Expanded in Human Colorectal Cancer.

Front Immunol 2017 26;8:619. Epub 2017 May 26.

Cancer Research Center, College of Science and Engineering, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Qatar Foundation, Doha, Qatar.

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http://dx.doi.org/10.3389/fimmu.2017.00619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5445103PMC
May 2017

The possible threat of Zika virus in the Middle East.

Travel Med Infect Dis 2016 May-Jun;14(3):277-8. Epub 2016 Mar 10.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, United Arab Emirates.

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http://dx.doi.org/10.1016/j.tmaid.2016.03.003DOI Listing
April 2017

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.

Eur J Med Genet 2017 Apr 24;60(4):212-216. Epub 2017 Jan 24.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.01.004DOI Listing
April 2017

FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.

Bone 2016 12 24;93:187-195. Epub 2015 Nov 24.

Life Sciences Department, Medical Biotechnology, Arabian Gulf University, Manama, Bahrain.

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http://dx.doi.org/10.1016/j.bone.2015.11.015DOI Listing
December 2016

Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy.

Pharmacogenomics 2016 Nov 21;17(16):1785-1793. Epub 2016 Oct 21.

Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.

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http://dx.doi.org/10.2217/pgs-2016-0076DOI Listing
November 2016

A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.

Orphanet J Rare Dis 2016 10 21;11(1):139. Epub 2016 Oct 21.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/s13023-016-0526-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073853PMC
October 2016

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract.

Meta Gene 2016 Sep 18;9:124-7. Epub 2016 May 18.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1016/j.mgene.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908276PMC
September 2016

A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.

Am J Med Genet A 2016 08 17;170(8):2111-8. Epub 2016 May 17.

Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.37741DOI Listing
August 2016

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Hum Genome Var 2014 6;1:14020. Epub 2014 Nov 6.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University , Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1038/hgv.2014.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785524PMC
April 2016

Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.

Am J Med Genet A 2016 Feb 5;170A(2):540-543. Epub 2015 Oct 5.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37421
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http://dx.doi.org/10.1002/ajmg.a.37421DOI Listing
February 2016

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

Am J Med Genet A 2016 Jan 23;170A(1):156-61. Epub 2015 Sep 23.

Department of Paediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1002/ajmg.a.37405
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http://dx.doi.org/10.1002/ajmg.a.37405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448135PMC
January 2016

A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.

J Mol Neurosci 2015 Nov 9;57(3):393-9. Epub 2015 Jun 9.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1007/s12031-015-0592-8DOI Listing
November 2015

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.

Meta Gene 2015 Sep 21;5:135-9. Epub 2015 Jul 21.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1016/j.mgene.2015.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722529PMC
September 2015

New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.

J Dermatol 2015 Aug 11;42(8):821-2. Epub 2015 May 11.

Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://doi.wiley.com/10.1111/1346-8138.12917
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http://dx.doi.org/10.1111/1346-8138.12917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704090PMC
August 2015

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.

Metab Brain Dis 2015 Jun 17;30(3):687-94. Epub 2014 Sep 17.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://dx.doi.org/10.1007/s11011-014-9618-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915861PMC
June 2015

A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy.

J Mol Neurosci 2015 May 18;56(1):17-23. Epub 2014 Nov 18.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://link.springer.com/10.1007/s12031-014-0463-8
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http://dx.doi.org/10.1007/s12031-014-0463-8DOI Listing
May 2015

Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.

Gene 2015 Apr 14;561(1):148-56. Epub 2015 Feb 14.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.02.038DOI Listing
April 2015

Improved plasma membrane expression of the trafficking defective P344R mutant of muscle, skeletal, receptor tyrosine kinase (MuSK) causing congenital myasthenic syndrome.

Int J Biochem Cell Biol 2015 Mar 3;60:119-29. Epub 2015 Jan 3.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, P.O. Box 17666, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2014.12.015DOI Listing
March 2015

Impaired trafficking of the very low density lipoprotein receptor caused by missense mutations associated with dysequilibrium syndrome.

Biochim Biophys Acta 2014 Dec 27;1843(12):2871-7. Epub 2014 Aug 27.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01674889140031
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http://dx.doi.org/10.1016/j.bbamcr.2014.08.013DOI Listing
December 2014

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE.

Childs Nerv Syst 2014 Jul 11;30(7):1183-9. Epub 2014 Jan 11.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates,

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http://dx.doi.org/10.1007/s00381-013-2352-9DOI Listing
July 2014

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Hum Mol Genet 2014 Jul 5;23(13):3456-66. Epub 2014 Feb 5.

Division of Genetics and Genomics, Department of Medicine Manton Center for Orphan Disease Research and Department of Pediatrics Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddu054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049305PMC
July 2014

Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.

Pediatr Neurol 2014 Jul 22;51(1):165-9. Epub 2014 Mar 22.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.03.012DOI Listing
July 2014

Identification of the cellular mechanisms that modulate trafficking of frizzled family receptor 4 (FZD4) missense mutants associated with familial exudative vitreoretinopathy.

Invest Ophthalmol Vis Sci 2014 Apr 17;55(6):3423-31. Epub 2014 Apr 17.

Department of Pathology, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.14-13885DOI Listing
April 2014

Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.

Mol Biol Rep 2014 Jan 6;41(1):193-200. Epub 2013 Nov 6.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al Ain, United Arab Emirates,

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http://link.springer.com/10.1007/s11033-013-2851-5
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http://dx.doi.org/10.1007/s11033-013-2851-5DOI Listing
January 2014

Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.

Birth Defects Res A Clin Mol Teratol 2013 Dec 6;97(12):764-9. Epub 2013 Sep 6.

Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University.

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http://dx.doi.org/10.1002/bdra.23170DOI Listing
December 2013

Determination of the CCR5∆32 frequency in Emiratis and Tunisians and the screening of the CCR5 gene for novel alleles in Emiratis.

Gene 2013 Oct 9;529(1):113-8. Epub 2013 Aug 9.

Department of Pathology, College of Medicine & Health Sciences, United Arab Emirates University, United Arab Emirates. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.07.062DOI Listing
October 2013

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.

Orphanet J Rare Dis 2013 Jun 17;8:87. Epub 2013 Jun 17.

Department of Pathology, College of Medicine and Health Sciences United Arab Emirates University, P,O, Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/1750-1172-8-87DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847167PMC
June 2013

Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures.

Pediatr Neurol 2013 Jan;48(1):63-6

Division of Neurology, Department of Pediatrics, Tawam Hospital, Al-Ain, Abu Dhabi, United Arab Emirates.

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https://linkinghub.elsevier.com/retrieve/pii/S08878994120044
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http://dx.doi.org/10.1016/j.pediatrneurol.2012.09.012DOI Listing
January 2013

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.

BMC Med Genet 2012 Sep 14;13:80. Epub 2012 Sep 14.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2350-13-80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495048PMC
September 2012

A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxa vara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract.

Birth Defects Res A Clin Mol Teratol 2012 Jul 8;94(7):553-6. Epub 2012 Jun 8.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/bdra.23031DOI Listing
July 2012

Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.

Genet Test Mol Biomarkers 2012 May 22;16(5):366-71. Epub 2011 Nov 22.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1089/gtmb.2011.0175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3354585PMC
May 2012

Identification of new alleles and the determination of alleles and genotypes frequencies at the CYP2D6 gene in Emiratis.

PLoS One 2011 22;6(12):e28943. Epub 2011 Dec 22.

Department of Pharmacology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0028943PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245235PMC
May 2012

A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

Orphanet J Rare Dis 2012 May 15;7:27. Epub 2012 May 15.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, P,O, Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/1750-1172-7-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492204PMC
May 2012

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Am J Med Genet A 2011 Jun 5;155A(6):1236-45. Epub 2011 May 5.

Faculty of Medicine and Health Sciences, Department of Pathology, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/ajmg.a.34009DOI Listing
June 2011

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Saudi Med J 2011 Apr;32(4):353-9

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al-Ain, United Arab Emirates.

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April 2011

Trafficking defects and loss of ligand binding are the underlying causes of all reported DDR2 missense mutations found in SMED-SL patients.

Hum Mol Genet 2010 Jun 10;19(11):2239-50. Epub 2010 Mar 10.

Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1093/hmg/ddq103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2865377PMC
June 2010

A novel statin-mediated "prenylation block-and-release" assay provides insight into the membrane targeting mechanisms of small GTPases.

Biochem Biophys Res Commun 2010 Jun 13;397(1):34-41. Epub 2010 May 13.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://linkinghub.elsevier.com/retrieve/pii/S0006291X1000936
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http://dx.doi.org/10.1016/j.bbrc.2010.05.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908739PMC
June 2010

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE).

Hum Mutat 2010 May;31(5):505-20

Departments of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1002/humu.21232DOI Listing
May 2010

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.

BMC Med Genet 2010 Feb 25;11:33. Epub 2010 Feb 25.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al-Ain, United Arab Emirates.

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http://dx.doi.org/10.1186/1471-2350-11-33DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2845574PMC
February 2010

A novel mutation in ARG1 gene is responsible for arginase deficiency in an Asian family.

Saudi Med J 2009 Dec;30(12):1601-3

Department of Pediatrics, Tawam Hospital, United Arab Emirates University, Al-Ain, United Arab Emirates.

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December 2009

Anterior segment anomalies of the eye, growth retardation associated with hypoplastic pituitary gland and endocrine abnormalities: Jung syndrome or a new syndrome?

Am J Med Genet A 2009 Feb;149A(2):251-6

Department of Paediatrics and Pathology, Faculty of Medicine & Health Sciences, UAE University, Al Ain, UAE.

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http://doi.wiley.com/10.1002/ajmg.a.32626
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http://dx.doi.org/10.1002/ajmg.a.32626DOI Listing
February 2009

Is cystic fibrosis-related diabetes an apoptotic consequence of ER stress in pancreatic cells?

Authors:
Bassam R Ali

Med Hypotheses 2009 Jan 11;72(1):55-7. Epub 2008 Oct 11.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1016/j.mehy.2008.07.058DOI Listing
January 2009

R58fs mutation in the HGD gene in a family with alkaptonuria in the UAE.

Ann Hum Genet 2009 Jan 20;73(1):125-30. Epub 2008 Oct 20.

Department of Paediatrics, UAR University, PO Box 1766, Al Ain, United Arab Emirates.

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http://dx.doi.org/10.1111/j.1469-1809.2008.00485.xDOI Listing
January 2009

Novel Robinow syndrome causing mutations in the proximal region of the frizzled-like domain of ROR2 are retained in the endoplasmic reticulum.

Hum Genet 2007 Nov 31;122(3-4):389-95. Epub 2007 Jul 31.

Department of Pathology, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

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http://link.springer.com/10.1007/s00439-007-0409-0
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http://dx.doi.org/10.1007/s00439-007-0409-0DOI Listing
November 2007

Rab GTPases containing a CAAX motif are processed post-geranylgeranylation by proteolysis and methylation.

J Biol Chem 2007 Jan 18;282(2):1487-97. Epub 2006 Nov 18.

Molecular and Cellular Medicine Section, National Heart and Lung Institute, Imperial College London, London SW7 2AZ, United Kingdom.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M605557200
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http://dx.doi.org/10.1074/jbc.M605557200DOI Listing
January 2007

ER-associated protein degradation is a common mechanism underpinning numerous monogenic diseases including Robinow syndrome.

Hum Mol Genet 2005 Sep 27;14(17):2559-69. Epub 2005 Jul 27.

Division of Biomedical Sciences, Faculty of Medicine, Imperial College, London SW7 2AZ, UK.

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http://academic.oup.com/hmg/article/14/17/2559/569261/ERasso
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http://dx.doi.org/10.1093/hmg/ddi259DOI Listing
September 2005

Reconstitution of glycopeptide export in mixed detergent-solubilised and resealed microsomes depleted of lumenal components.

J Biochem Biophys Methods 2005 Jan;62(1):1-12

Department of Biological Sciences, Imperial College, London, SW7 2AY, UK.

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http://dx.doi.org/10.1016/j.jbbm.2004.01.013DOI Listing
January 2005

Multiple regions contribute to membrane targeting of Rab GTPases.

J Cell Sci 2004 Dec 23;117(Pt 26):6401-12. Epub 2004 Nov 23.

Cell and Molecular Biology, Division of Biomedical Sciences, Faculty of Medicine, Imperial College London, London, SW7 2AZ, UK.

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http://dx.doi.org/10.1242/jcs.01542DOI Listing
December 2004

Middle East: trying to break down the barriers.

Authors:
Bassam R Ali

Nature 2003 Oct;425(6961):899

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http://dx.doi.org/10.1038/425899aDOI Listing
October 2003

Membrane targeting of Rab GTPases is influenced by the prenylation motif.

Mol Biol Cell 2003 May 6;14(5):1882-99. Epub 2003 Feb 6.

Cell and Molecular Biology, Division of Biomedical Sciences, Faculty of Medicine, Imperial College, London SW7 2AZ, United Kingdom.

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http://dx.doi.org/10.1091/mbc.e02-10-0639DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC165084PMC
May 2003