Search Results - "Khalidah Nasser"
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Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone
Published in Journal of biomolecular structure & dynamics (24-05-2021)“…The Paget disease (PDB; OMIM is 167250) is a chronic bone disease caused by pathogenic mutations in Sequestome1/p62 (SQSTM1) gene. This study has aimed to…”
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Identification of miRNA–mRNA–TFs regulatory network and crucial pathways involved in asthma through advanced systems biology approaches
Published in PloS one (20-10-2022)“…Asthma is a life-threatening and chronic inflammatory lung disease that is posing a true global health challenge. The genetic basis of the disease is fairly…”
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Exploring celiac disease candidate pathways by global gene expression profiling and gene network cluster analysis
Published in Scientific reports (01-10-2020)“…Celiac disease (CeD) is a gastrointestinal autoimmune disorder, whose specific molecular basis is not yet fully interpreted. Therefore, in this study, we…”
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Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot
Published in Gene (30-01-2023)“…[Display omitted] •A novel heterozygous de novo mutation in LRP1 was identified.•LRP1 variant was predicted to be pathogenic, resulting in potential changes in…”
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Molecular insights into the coding region mutations of low‐density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia
Published in The journal of gene medicine (01-06-2020)“…Background Familial hypercholesterolemia (FH) is a lipid disorder caused by pathogenic mutations in LDLRAP1 gene. The present study has aimed to deepen our…”
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Dissecting the Role of NF-κb Protein Family and Its Regulators in Rheumatoid Arthritis Using Weighted Gene Co-Expression Network
Published in Frontiers in genetics (20-11-2019)“…Rheumatoid arthritis (RA) is a chronic synovial autoinflammatory disease that destructs the cartilage and bone, leading to disability. The functional…”
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Molecular differential analysis of uterine leiomyomas and leiomyosarcomas through weighted gene network and pathway tracing approaches
Published in Systems biology in reproductive medicine (04-05-2021)“…Uterine smooth muscular neoplastic growths like benign leiomyomas (UL) and metastatic leiomyosarcomas (ULMS) share similar clinical symptoms, radiological and…”
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Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD)
Published in Frontiers in genetics (27-04-2018)“…The deleterious amino acid substitution mutations in IL-10 receptor alpha gene are most frequently reported in several autoimmune diseases including early…”
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Genotype-protein phenotype characterization of NOD2 and IL23R missense variants associated with inflammatory bowel disease: A paradigm from molecular modelling, dynamics, and docking simulations
Published in Frontiers in medicine (10-01-2023)“…Inflammatory bowel disease (IBD) is a gastrointestinal disease with an underlying contribution of genetic, microbial, environment, immunity factors. The coding…”
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Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects
Published in Frontiers in medicine (13-09-2021)“…Laterality defects (LDs) or asymmetrically positioned organs are a group of rare developmental disorders caused by environmental and/or genetic factors…”
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Quality of life in children with Down syndrome and its association with parent and child demographic characteristics: Parent‐reported measures
Published in Molecular genetics & genomic medicine (01-01-2024)“…Background This study aims to explore the association between the quality of life (QoL) in children with Down syndrome (DS) and its relationship with…”
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SHH Signaling as a Key Player in Endometrial Cancer: Unveiling the Correlation with Good Prognosis, Low Proliferation, and Anti-Tumor Immune Milieu
Published in International journal of molecular sciences (01-10-2024)“…Endometrial Cancer (EC) is one of the most common gynecological malignancies. Despite its prevalence, molecular pathways, such as the Sonic Hedgehog (SHH)…”
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Bioinformatics insights into the genes and pathways on severe COVID-19 pathology in patients with comorbidities
Published in Frontiers in physiology (14-12-2022)“…Coronavirus disease (COVID-19) infection is known for its severe clinical pathogenesis among individuals with pre-existing comorbidities. However, the…”
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A comparative mRNA- and miRNA transcriptomics reveals novel molecular signatures associated with metastatic prostate cancers
Published in Frontiers in genetics (16-11-2022)“…Background: Prostate cancer (PC) is a fatally aggressive urogenital cancer killing millions of men, globally. Thus, this study aims to identify key miRNAs,…”
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Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis
Published in Saudi journal of medicine and medical sciences (01-10-2024)“…Background: Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to…”
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Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease
Published in Frontiers in pediatrics (14-02-2022)“…Celiac disease (CeD) is a multifactorial autoimmune enteropathy characterized by the overactivation of the immune system in response to dietary gluten. The…”
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Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families
Published in Frontiers in pediatrics (26-04-2021)“…Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of…”
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Molecular profiling of lamellar ichthyosis pathogenic missense mutations on the structural and stability aspects of TGM1 protein
Published in Journal of biomolecular structure & dynamics (22-09-2021)“…Lamellar ichthyosis (LI) is a rare inherited disease where affected infants present a extensive skin scaling characterized by hyperkeratosis. Inherited…”
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Identification of miRNA–mRNA–TFs regulatory network and crucial pathways involved in asthma through advanced systems biology approaches
Published in PloS one (01-01-2022)“…Asthma is a life-threatening and chronic inflammatory lung disease that is posing a true global health challenge. The genetic basis of the disease is fairly…”
Get full text
Journal Article -
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Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease
Published in Saudi journal of biological sciences (01-06-2020)“…Celiac disease (CD) is a gastrointestinal disorder whose genetic basis is not fully understood. Therefore, we studied a Saudi family with two CD affected…”
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