List of works - Bassam R. Ali

A Novel Aberrant Splice Site Mutation in <b><i>RAB23</i></b> Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family ⬇️

scientific article published on December 1, 2012

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

scientific article published on 29 August 2019

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

scientific article published on 9 June 2015

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

scientific article published on 23 January 2017

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

scientific article

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

scientific article published on 21 October 2016

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

scientific article

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

scientific article

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

scientific article published on 21 March 2017

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

scientific article published on 18 May 2016

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

scientific article

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

article

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

scientific article

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

scientific article published on 18 November 2014

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

scientific article

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

scientific article published on 17 May 2016

A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis

scientific article published on 29 July 2013

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

scientific article published on 6 November 2013

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

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

scientific article

Characterization of the subunits in an apparently homogeneous subpopulation of Clostridium thermocellum cellulosomes

article

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

scientific article

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

scientific article published on 22 March 2014

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

scientific article published on 16 August 2012

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

scientific article published on 5 October 2015

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

scientific article

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

scientific article published on 21 October 2016

Cover Image, Volume 170A, Number 8, August 2016

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

scientific article

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

scientific article

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

scientific article

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

scientific article published on 9 August 2013

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

scientific article published on 27 July 2005

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia

scientific article

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia

scientific article published on 23 October 2019

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

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article published on 28 June 2017

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

scientific article published on 26 March 2015

Export of a misprocessed GPI-anchored protein from the endoplasmic reticulum in vitro in an ATP- and cytosol-dependent manner

scientific article published on 01 October 2000

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

scientific article published on 24 November 2015

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

GTPases in protozoan parasites: tools for cell biology and chemotherapy.

scientific article

Genetic Disorders in the United Arab Emirates

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

scientific article published on 21 September 2017

Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients

scientific article published on 19 February 2016

Genomics and Pharmacogenomics Knowledge, Attitude and Practice of Pharmacists Working in United Arab Emirates: Findings from Focus Group Discussions-A Qualitative Study

scientific article published on 18 September 2020

Glutathione S-transferase from oxadiazon treated chickpea

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

scientific article published on 23 September 2015

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

scientific article

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

scientific article

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

scientific article

Identification of the Cellular Mechanisms That Modulate Trafficking of Frizzled Family Receptor 4 (FZD4) Missense Mutants Associated With Familial Exudative Vitreoretinopathy

article

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

scientific article published on 27 August 2014

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

scientific article

Intratumoral FoxP3+Helios+ Regulatory T Cells Upregulating Immunosuppressive Molecules Are Expanded in Human Colorectal Cancer

scientific article

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

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

scientific article published on 11 October 2008

Key Pharmacogenomic Considerations for Sickle Cell Disease Patients

scientific article published on 09 May 2017

Knowledge and Attitudes of Medical and Health Science Students in the United Arab Emirates toward Genomic Medicine and Pharmacogenomics: A Cross-Sectional Study

scientific article published on 24 October 2020

Knowledge, Attitudes, and Perceived Barriers toward Genetic Testing and Pharmacogenomics among Healthcare Workers in the United Arab Emirates: A Cross-Sectional Study

scientific article published on 09 November 2020

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

scientific article

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

scientific article

Membrane targeting of Rab GTPases is influenced by the prenylation motif

scientific article

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

scientific article

Multiple regions contribute to membrane targeting of Rab GTPases

scientific article

Mutation spectrum of Joubert syndrome and related disorders among Arabs

scientific article published on 6 November 2014

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

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

scientific article published on May 2010

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

scientific article

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

scientific article published in January 2013

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

scientific article published on 31 July 2007

Novel genetic risk variants for pediatric celiac disease

scientific article published on 24 October 2016

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

scientific article published on 6 September 2013

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

scientific article

Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations

scientific article

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

scientific article

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges

scientific article published on 01 January 2010

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates ⬇️

scientific article published on January 1, 2013

Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm)

scientific article published on 04 February 2021

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

scientific article published on 20 October 2008

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

scientific article published on 18 November 2006

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

scientific article published in January 2005

Retention in the endoplasmic reticulum is the underlying mechanism of some hereditary haemorrhagic telangiectasia type 2 ALK1 missense mutations

scientific article published on 4 November 2012

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients

scientific article

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

scientific article published on 27 June 2017

Success stories in genomic medicine from resource-limited countries

scientific article published on 18 June 2015

Synergistic interaction of the cellulosome integrating protein (CipA) fromClostridium thermocellumwith a cellulosomal endoglucanase

scientific article published on 01 January 1998

Synthesis of 3-arsonoalanine and its action on aspartate aminotransferase and aspartate ammonia-lyase. Comparison with arsenical analogues of malate and fumarate

scientific article published on 01 July 1993

The farnesyltransferase inhibitor manumycin A is a novel trypanocide with a complex mode of action including major effects on mitochondria.

scientific article published in October 1999

The induction of chickpea glutathione S-transferase by oxadiazon

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

scientific article

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis

scientific article published on 26 March 2020

The possible threat of Zika virus in the Middle East

scientific article

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

scientific article

Whole transcriptome analysis of human erythropoietic cells during ontogenesis suggests a role of VEGFA gene as modulator of fetal hemoglobin and pharmacogenomic biomarker of treatment response to hydroxyurea in β-type hemoglobinopathy patients

scientific article published on 23 October 2017

List of works by Bassam R. Ali

A Novel Aberrant Splice Site Mutation in &lt;b&gt;&lt;i&gt;RAB23&lt;/i&gt;&lt;/b&gt; Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family ⬇️

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

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

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

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

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

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

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

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

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

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

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

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

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

A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2.

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

A response to Dr. Alzahrani's letter to the editor regarding the mechanism underlying fibrochondrogenesis

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

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

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

Characterization of the subunits in an apparently homogeneous subpopulation of Clostridium thermocellum cellulosomes

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

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

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

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

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

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

Cover Image, Volume 170A, Number 8, August 2016

Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

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

Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts

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

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

Endoplasmic reticulum quality control is involved in the mechanism of endoglin-mediated hereditary haemorrhagic telangiectasia

Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia

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

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

Export of a misprocessed GPI-anchored protein from the endoplasmic reticulum in vitro in an ATP- and cytosol-dependent manner

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

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

GTPases in protozoan parasites: tools for cell biology and chemotherapy.

Genetic Disorders in the United Arab Emirates

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

Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients

Genomics and Pharmacogenomics Knowledge, Attitude and Practice of Pharmacists Working in United Arab Emirates: Findings from Focus Group Discussions-A Qualitative Study

Glutathione S-transferase from oxadiazon treated chickpea

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

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

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

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

Identification of the Cellular Mechanisms That Modulate Trafficking of Frizzled Family Receptor 4 (FZD4) Missense Mutants Associated With Familial Exudative Vitreoretinopathy

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

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

Intratumoral FoxP3+Helios+ Regulatory T Cells Upregulating Immunosuppressive Molecules Are Expanded in Human Colorectal Cancer

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

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

Key Pharmacogenomic Considerations for Sickle Cell Disease Patients

Knowledge and Attitudes of Medical and Health Science Students in the United Arab Emirates toward Genomic Medicine and Pharmacogenomics: A Cross-Sectional Study

Knowledge, Attitudes, and Perceived Barriers toward Genetic Testing and Pharmacogenomics among Healthcare Workers in the United Arab Emirates: A Cross-Sectional Study

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

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

Membrane targeting of Rab GTPases is influenced by the prenylation motif

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

Multiple regions contribute to membrane targeting of Rab GTPases

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

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

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

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

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

Novel genetic risk variants for pediatric celiac disease

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

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

Pharmacogenomics in pediatric acute lymphoblastic leukemia: promises and limitations

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

Prenatal diagnosis of thanatophoric dysplasia and obstetrical challenges

Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates ⬇️

A Novel Aberrant Splice Site Mutation in <b><i>RAB23</i></b> Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family ⬇️