Maleeha Azam
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View article: Bidirectional Power Flow Control Using Phase Shifting Transformer in Multi-Source Systems
Bidirectional Power Flow Control Using Phase Shifting Transformer in Multi-Source Systems Open
In recent years, the use of electrical energy has significantly increased. To meet the growing demand, new generating units have been installed across the country, accompanied by the establishment of extensive transmission networks to deli…
View article: Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders
Association of Monoamine Oxidase A Gene Promoter Region (30 bp μVNTR) Polymorphism with Serum Levels in Multiple Psychiatric Disorders Open
Background: Monoamine oxidase A (MAOA) has a role in metabolising different biogenic amines, including dopamine. Functional studies have revealed the effect of promoter region variants on the transcriptional activity of the MAOA that conse…
View article: A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions Open
Background Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undi…
View article: Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa
Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa Open
Pathogenic mutations that cause rhodopsin misfolding lead to a spectrum of currently untreatable blinding diseases collectively termed retinitis pigmentosa. Small molecules to correct rhodopsin misfolding are therefore urgently needed. In …
View article: Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies
Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies Open
Retinitis pigmentosa (RP) is a hereditary disease characterized by progressive vision loss ultimately leading to blindness. This condition is initiated by mutations in genes expressed in retinal cells, resulting in the degeneration of rod …
View article: Epidemiological Investigation on the Clinical Status of the Developmental Dyslexia and ADHD Comorbidity among School-Age Children in Pakistan
Epidemiological Investigation on the Clinical Status of the Developmental Dyslexia and ADHD Comorbidity among School-Age Children in Pakistan Open
Developmental Dyslexia (DD) and Attention-Deficit/Hyperactivity Disorder (ADHD) are neurodevelopmental disorders affecting children's learning abilities worldwide, but limited research exists in Pakistan. We tried to identify and confirm A…
View article: The effectiveness of a personalised multidomain lifestyle intervention programme to slow cognitive decline: study protocol for a series of randomised open‐label N‐of‐1 trials
The effectiveness of a personalised multidomain lifestyle intervention programme to slow cognitive decline: study protocol for a series of randomised open‐label N‐of‐1 trials Open
Background Multidomain lifestyle interventions for dementia risk reduction have been developed and trialled because reversible lifestyle factors have been shown to contribute to the onset and progression of dementia. A recent review and me…
View article: Usefulness of The Test of Practical Judgement for the detection of MCI in a Southeast Asian Population
Usefulness of The Test of Practical Judgement for the detection of MCI in a Southeast Asian Population Open
Background The Test of Practical Judgement (TOP‐J) in its 9‐item (TOPJ9) and 15‐item (TOPJ15) versions (Rabin et el., 2007), validated for assessing practical judgement, encompasses day‐to‐day scenarios in medical, financial, safety, and s…
View article: Association of Blood‐Based Biomarkers: GFAP, Amyloid 42/40 and Perivascular Spaces in Relation to Cognitive Domains in Vascular Cognitive Impairment Participants
Association of Blood‐Based Biomarkers: GFAP, Amyloid 42/40 and Perivascular Spaces in Relation to Cognitive Domains in Vascular Cognitive Impairment Participants Open
Background Perivascular spaces (PVS) are fluid‐filled spaces in the brain, hypothesized in promoting clearance of metabolites implicated in dementia through glymphatic system drainage. PVS are classified according to Grades (0‐4). Blood‐ba…
View article: Usefulness of the Visual Cognitive Assessment Test in Detecting Vascular MCI in a Southeast Asian Cohort
Usefulness of the Visual Cognitive Assessment Test in Detecting Vascular MCI in a Southeast Asian Cohort Open
Background Visual Cognitive Assessment Test(VCAT) is a visual‐based cognitive evaluation tool which can be administered to multilingual populations without translation. VCAT has shown to be effective in differentiating mild cognitive impai…
View article: ApoE4 Status Moderates the Association between Vascular Risks, Cerebral Perfusion and Cognitive Performance in a Southeast Asian Population
ApoE4 Status Moderates the Association between Vascular Risks, Cerebral Perfusion and Cognitive Performance in a Southeast Asian Population Open
Background Factors contributing to cognitive decline in adults include vascular risk factors (hypertension, hyperlipidemia, diabetes), lower education, age, Apolipoprotein E4(ApoE4) and cerebral hypoperfusion. The interplay between aging a…
View article: Plasma GFAP and pTau‐181 Moderate the Relationship between Cognition and White Matter Hyperintensities in a Southeast Asian Non‐Demented‐at‐Risk Cohort
Plasma GFAP and pTau‐181 Moderate the Relationship between Cognition and White Matter Hyperintensities in a Southeast Asian Non‐Demented‐at‐Risk Cohort Open
Background Astrocyte reactivity marked by elevations in Glial Fibrillary Acidic Protein(GFAP), was found to increase Phosphorylated Tau181(pTau181) induced neurodegenerative effects in Alzheimer’s Disease (Bellaver et al., 2023). Neverthel…
View article: Exploring<i>WNT2</i>Polymorphisms in Comitant Strabismus: A Genetic Association Study
Exploring<i>WNT2</i>Polymorphisms in Comitant Strabismus: A Genetic Association Study Open
Background Strabismus is a complex oculomotor condition characterized by a misalignment of the visual axis. The genetics of strabismus are poorly defined although a few candidate genes have been identified, among which is the WNT2 gene. Ou…
View article: Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators Open
Background Patients, families, the healthcare system, and society as a whole are all significantly impacted by rare diseases (RDs). According to various classifications, there are currently up to 9,000 different rare diseases that have bee…
View article: Expression profiling of extracellular matrix related genes in patients with strabismus
Expression profiling of extracellular matrix related genes in patients with strabismus Open
The data that supports the findings of this study are available in the supplementary material of this article. Data S1. Supporting information. Please note: The publisher is not responsible for the content or functionality of any supportin…
View article: Rare Variants Residing in Novel Cis-Acting Element in Visual System Homeobox 1 and Their Contribution in the Pathogenesis of Keratoconus
Rare Variants Residing in Novel Cis-Acting Element in Visual System Homeobox 1 and Their Contribution in the Pathogenesis of Keratoconus Open
(1) Background: The visual system homeobox 1 (VSX1) may contribute to the incidence of keratoconus (KC) in different populations. The present study investigated the role of VSX1 in autosomal recessive Pakistani families and sporadic KC pat…
View article: Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International Open
Introduction Rare diseases (RD) are a health priority worldwide, overall affecting hundreds of millions of people globally. Early and accurate diagnosis is essential to support clinical care but remains challenging in many countries, espec…
View article: Protective and pathogenic role of collagen subtypes genes COL4A3 and COL4A4 polymorphisms in the onset of keratoconus in South-Asian Pakistani cohort
Protective and pathogenic role of collagen subtypes genes COL4A3 and COL4A4 polymorphisms in the onset of keratoconus in South-Asian Pakistani cohort Open
COL4A3 rs10178458 and COL4A4 SNPs rs2229814 and rs2228555 were found to be pathogenic for KC, whereas COL4A3 rs55703767 was found to play a protective role against KC development in South-Asian (Pakistani) Cohort.
View article: Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family Open
Mucopolysaccharidoses (MPS) type IVA is a lysosomal storage disease that mainly affects the skeletal system and is caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). The condition can mistakenly be diagnosed as…
View article: Association of GWAS and candidate gene loci of dopaminergic system with major depression, schizophrenia and bipolar disorder in the Pakistani population
Association of GWAS and candidate gene loci of dopaminergic system with major depression, schizophrenia and bipolar disorder in the Pakistani population Open
The dopaminergic pathways control neural signals that modulate mood and behaviour along and have a vital role in the aetiology of major depression (MDD), schizophrenia (SHZ) and bipolar disorder (BD). Genome-wide association studies (GWAS)…
View article: Association of Dopamine β-Hydroxylase Polymorphism rs1611115 And Serum Levels with Psychiatric Disorders in Pakistani Population
Association of Dopamine β-Hydroxylase Polymorphism rs1611115 And Serum Levels with Psychiatric Disorders in Pakistani Population Open
Dopamine β-hydroxylase (DBH) is a copper-containing enzyme that has an important role in maintaining the cellular homeostasis between the two neurotransmitters, dopamine (DA) and nor-adrenaline (NA). DBH functional polymorphisms are associ…
View article: Association of <i>IGF1</i> polymorphisms with exotropia in a Pakistani cohort.
Association of <i>IGF1</i> polymorphisms with exotropia in a Pakistani cohort. Open
IGF1 polymorphisms rs5742632 (A>G) and rs6214 (C>T) are plausible risk factors for the development of exotropia. However, the physiologic mechanism requires further evaluation.
View article: Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes
Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes Open
Background Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects about 1 in 36 children in the united states, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD h…
View article: Molecular Modelling of nsSNPs in GABRA2 Gene in Epilepsy and Study of Their Impact On Structure and Stability of GABRA2 Protein
Molecular Modelling of nsSNPs in GABRA2 Gene in Epilepsy and Study of Their Impact On Structure and Stability of GABRA2 Protein Open
Epilepsy is a neurological condition characterized by abrupt, unprovoked, and recurrent seizures that are unpredictable in frequency. The objective of this analysis was to identify novel non-synonymous polymorphisms in the GABRA2 gene and …
View article: Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Open
In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% c…