Shahid Mahmood Baig
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View article: Computer-Aided Drug Design by Utilising Flavonoid Compound to Target CISD1 Activation for Parkinson’s Disease
Computer-Aided Drug Design by Utilising Flavonoid Compound to Target CISD1 Activation for Parkinson’s Disease Open
Our research explores the interaction between 2-(4-Butoxyphenyl)-N-hydroxyacetamide and CISD1, highlighting its potential benefits in treating age-related Parkinson’s disease (PD). PD is a neurodegenerative disorder characterised by the gr…
View article: Molecular characterization of acromesomelic dysplasia type maroteaux: A homozygous nonsense mutation in NPR2
Molecular characterization of acromesomelic dysplasia type maroteaux: A homozygous nonsense mutation in NPR2 Open
Acromesomelic dysplasia, type Maroteaux (AMDM) is an autosomal recessive skeletal condition distinguish by uneven growth plates, spines, and limbs. People with Acromesomelic dysplasia are often much shorter than average and have disproport…
View article: ANTECEDENTS & CONSEQUENCES OF SOCIAL MEDIA ADICTION AMONG STUDENTS IN HIGHER EDUCATIONAL CONTEXT
ANTECEDENTS & CONSEQUENCES OF SOCIAL MEDIA ADICTION AMONG STUDENTS IN HIGHER EDUCATIONAL CONTEXT Open
The objective of this research is to investigate how social media addiction mediates relationships between psychological distress and fear of missing out (FOMO) with subjective wellbeing and sleep quality, respectively. The present study a…
View article: Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder Open
The post-transcriptional modification of tRNAs plays a crucial role in tRNA structure and function. Pathogenic variants in tRNA-modification enzymes have been implicated in a wide range of human neurodevelopmental and neurological disorder…
View article: Genetic insights into ataxia with ocular apraxia type 1: Unraveling a mutation in APTX in a case report of Pakistani family
Genetic insights into ataxia with ocular apraxia type 1: Unraveling a mutation in APTX in a case report of Pakistani family Open
View article: Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients Open
Congenital heart defects (CHD) appear in almost one percent of live births. Asian countries have the highest birth prevalence of CHD in the world. Recessive genotypes may represent a CHD risk factor in Asian populations with a high degree …
View article: A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family
A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family Open
Background and objectives: Hereditary spastic paraplegia (HSP) is characterized by unsteady gait, motor incoordination, speech impairment, abnormal eye movement, progressive spasticity and lower limb weakness. Spastic paraplegia 75 (SPG75)…
View article: A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families
A novel mutation in SETX and ATM causes ataxia in consanguineous Pakistani families Open
Background & Objectives: Ataxia is usually caused by cerebellar pathology or a decrease in vestibular or proprioceptive afferent input to the cerebellum. It is characterized by uncoordinated walking, truncal instability, body or head tremo…
View article: Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review
Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: case report and literature review Open
Background Hereditary neurodevelopmental disorders (NDDs) are prevalent in poorly prognostic pediatric diseases, but the pathogenesis of NDDs is still unclear. Irregular myelination could be one of the possible causes of NDDs. Case present…
View article: Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder Open
Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. H…
View article: Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia Open
View article: Clinical and Molecular Spectrum of Autosomal Recessive <scp><i>CA8</i></scp>‐Related Cerebellar Ataxia
Clinical and Molecular Spectrum of Autosomal Recessive <span><i>CA8</i></span>‐Related Cerebellar Ataxia Open
Background Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ‐3). …
View article: Biallelic missense variants in <scp><i>COG3</i></scp> cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking
Biallelic missense variants in <span><i>COG3</i></span> cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking Open
Biallelic variants in genes for seven out of eight subunits of the conserved oligomeric Golgi complex (COG) are known to cause recessive congenital disorders of glycosylation (CDG) with variable clinical manifestations. COG3 encodes a cons…
View article: Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients Open
BACKGROUND Congenital heart defects (CHD) appear in almost one percent of live births. Asian countries have the highest birth prevalence of CHD in the world. Recessive genotypes may represent a significant CHD risk factor in Asian populati…
View article: The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans Open
View article: Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders
Biallelic <i>MED27</i> variants lead to variable ponto-cerebello-lental degeneration with movement disorders Open
MED27 is a subunit of the Mediator multiprotein complex, which is involved in transcriptional regulation. Biallelic MED27 variants have recently been suggested to be responsible for an autosomal recessive neurodevelopmental disorder with s…
View article: Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders Open
Spinocerebellar disorders are a vast group of rare neurogenetic conditions, generally characterized by overlapping clinical symptoms including progressive cerebellar ataxia, spastic paraparesis, cognitive deficiencies, skeletal/muscular an…
View article: A homozygous founder variant in <scp><i>PDE2A</i></scp> causes paroxysmal dyskinesia with intellectual disability
A homozygous founder variant in <span><i>PDE2A</i></span> causes paroxysmal dyskinesia with intellectual disability Open
Intellectual developmental disorder with paroxysmal dyskinesia or seizures (IDDPADS, OMIM # 619150 ) is an ultra‐rare childhood‐onset autosomal recessive movement disorder manifesting paroxysmal dyskinesia, global developmental delay, impa…
View article: Exome sequencing in a Romanian <scp>Bardet‐Biedl</scp> syndrome cohort revealed an overabundance of causal <scp><i>BBS12</i></scp> variants
Exome sequencing in a Romanian <span>Bardet‐Biedl</span> syndrome cohort revealed an overabundance of causal <span><i>BBS12</i></span> variants Open
Bardet‐Biedl syndrome (BBS), is an emblematic ciliopathy hallmarked by pleiotropy, phenotype variability, and extensive genetic heterogeneity. BBS is a rare (~1/140,000 to ~1/160,000 in Europe) autosomal recessive pediatric disorder charac…
View article: Consanguinity and Occurrence of Genetic Disorders in District Attock
Consanguinity and Occurrence of Genetic Disorders in District Attock Open
View article: Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability Open
Intellectual disability (ID) is a condition of significant limitation of cognitive functioning and adaptive behavior, with 50% of etiology attributed to genetic predisposition. We recruited two consanguineous Pakistani families manifesting…
View article: A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family
A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family Open
Background and objectives: Autosomal recessive spinocerebellar ataxia-13 (SCAR13) is an ultra-rare disorder characterized by slowly progressive cerebellar ataxia, cognitive deficiencies, and skeletal and oculomotor abnormalities. The objec…
View article: Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy Open
View article: Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders Open
Balanced chromosomal rearrangements (BCRs), including inversions, translocations, and insertions, reorganize large sections of the genome and contribute substantial risk for developmental disorders (DDs). However, the rarity and lack of sy…
View article: Identification of Pathogenic Mutations in Primary Microcephaly‐ (MCPH‐) Related Three Genes <i>CENPJ</i>, <i>CASK</i>, and <i>MCPH1</i> in Consanguineous Pakistani Families
Identification of Pathogenic Mutations in Primary Microcephaly‐ (MCPH‐) Related Three Genes <i>CENPJ</i>, <i>CASK</i>, and <i>MCPH1</i> in Consanguineous Pakistani Families Open
Microcephaly (MCPH) is a developmental anomaly of the brain known by reduced cerebral cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a genetically and clinically heterogenous disorder. Twenty‐…
View article: A novel missense variant of <scp><i>SCN4A</i></scp> co‐segregates with congenital essential tremor in a consanguineous Kurdish family
A novel missense variant of <span><i>SCN4A</i></span> co‐segregates with congenital essential tremor in a consanguineous Kurdish family Open
Essential tremor (ET) is a neurological disorder characterized by bilateral and symmetric postural, isometric, and kinetic tremors of forelimbs produced during voluntary movements. To date, only a single SCN4A variant has been suggested to…
View article: Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families
Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families Open
Schizophrenia is a disabling neuropsychiatric disorder of adulthood onset with high heritability. Worldwide collaborations have identified an association of ~270 common loci, with small individual effects and hence weak clinical implicatio…
View article: Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families
Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families Open
Background & Objectives: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations…
View article: A recurrent rare intronic variant in <scp><i>CAPN3</i></scp> alters <scp>mRNA</scp> splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees
A recurrent rare intronic variant in <span><i>CAPN3</i></span> alters <span>mRNA</span> splicing and causes autosomal recessive limb‐girdle muscular dystrophy‐1 in three Pakistani pedigrees Open
Autosomal recessive limb‐girdle muscular dystrophy‐1 (LGMDR1) is an autosomal recessive disorder characterized by progressive weakness of the proximal limb and girdle muscles. Biallelic mutations in CAPN3 are reported frequently to cause L…
View article: A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family
A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family Open
Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes encode centrosom…