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Egyptian Journal of Medical Human Genetics
Scopus
ISSN 1110-8630 · SpringerOpen · 1.221 artikel di indeks
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Artikel Jurnal
CRISPR-Cas9 technology: a breakthrough in cancer gene therapy
Abstract Gene editing, especially by clustered regularly interspaced short palindromic repeats associated protein 9 (CRISPR-Cas9), has propelled gene function science. The rapid pace of gene editing has increased its medical/clinical significance CRISPR-Cas9, being very specific and potent, can…
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Artikel Jurnal
Deleterious nonsynonymous SNPs of human VDR and BMP2 genes and their impact on ankylosing spondylitis: a comprehensive in silico analysis
Abstract Background Single-nucleotide polymorphisms (SNPs) influence disease susceptibility, making it essential to identify harmful variants. The vitamin D receptor (VDR) and bone morphogenetic protein 2 (BMP2) genes, which regulate bone metabolism, calcium balance, and immune function, are…
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Artikel Jurnal
Evaluation of CaSR rs1801725 and circulating miRNA-21-5p and miRNA-124-3p expression in chronic kidney disease-mineral and bone disorder patients
Abstract Background Chronic kidney disease-mineral and bone disorder (CKD-MBD) has been a prominent consequence of end-stage renal disease (ESRD), increasing cardiovascular risk and skeletal fragility. Emerging research shows that genetic and epigenetic variables play an important role in…
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Artikel Jurnal
Emerging advances in gene and cell therapy for heart failure: a systematic review
Abstract Heart failure (HF) remains a major global health burden, and current therapies slow disease progression but rarely reverse myocardial dysfunction. Gene and cell therapies have emerged as innovative strategies capable of directly modifying molecular pathways and promoting cardiac repair…
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Artikel Jurnal
Human infectious disease susceptibility: key perspectives
Abstract Aim Infectious diseases have significantly contributed to the trajectory of human evolution, serving as influential agents of natural selection and shaping the genetic architecture of immunity and resistance. This review synthesizes key insights from evolutionary biology, genetics, and…
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Artikel Jurnal
A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I
Abstract Objectives Glutaric aciduria type I (GA-I) is an inborn error of metabolism caused by biallelic variants in the GCDH gene, disrupting lysine and tryptophan catabolism. While exonic variants are well-characterized, the clinical and molecular consequences of intronic splice-site variants…
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Artikel Jurnal
Novel variant in WDFY3 in a girl with autism spectrum disorder, macrocephaly and no regression
Abstract Background Autism spectrum disorder (ASD) is a heterogeneous condition with complex genetic and environmental etiologies. Diagnostic yield can be low, but in certain cohorts the likelihood of a positive genetic diagnosis increases. Case presentation We report a pediatric patient with…
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Artikel Jurnal
Induced pluripotent stem cells in autism research: a review of current advances and future directions
Abstract Background Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting millions of people worldwide, with limited therapeutic options and significant heterogeneity in presentation and underlying pathophysiology. This review comprehensively examines the current state…
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Artikel Jurnal
Increased FAM72B expression in breast cancer and association of its expression with poor prognosis and genes related to cell proliferation
Abstract Introduction Evidence indicates that the FAM72 gene family may play oncogenic roles in multiple cancers. This study aimed to investigate alterations in the expression of the FAM72B gene (a member of the FAM72 gene family) across various common cancers (pan-cancer), with particular emphasis…
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Artikel Jurnal
Genetic landscape of celiac disease: a case–control study focusing on TAGAP rs1738074 in the Sargodha population, Pakistan
Abstract Background Celiac disease (CD) is a complex immunological disorder with lifelong exposure to gluten and has generally been linked to major histocompatibility complex (MHC) Class II genes. Recent GWAS studies, however, point to the involvement of other non-HLA genes, including TAGAP, in…
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Artikel Jurnal
Causal effects of GERD on ENT disorders: a Mendelian randomization study
Abstract Objective Observational studies have linked gastroesophageal reflux disease (GERD) to various otolaryngologic diseases (ear, nose, and throat [ENT] disorders), but causal inference is limited by confounding and reverse causation. We used Mendelian randomization (MR) to evaluate causality…
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Artikel Jurnal
Systems-level characterization of the molecular landscape of odontogenic keratocyst: insights from differential gene expression and pathway analysis
Abstract Background Odontogenic keratocysts (OKCs) are aggressive jaw cysts with a high recurrence rate and a molecular profile resembling neoplastic lesions. Understanding their genetic and signalling landscape may provide new insights into diagnostic and therapeutic strategies. Publicly available…
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Artikel Jurnal
Prospective and challenges of rare genetic diseases in India
Abstract Rare genetic diseases presently impose substantial challenges to the world healthcare system.These fatal disorders affecting considerable number of population all over the world. India is a diverse country with multiple communities, religions, and traditions which have co-existed for…
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Artikel Jurnal
Association of TNF-⍺ promoter polymorphisms with COVID-19 susceptibility and severity: a study from South India
Abstract Background −1031 (T/C) and AA for − 308 (G/A) showing a higher risk for disease susceptibility (OR = 3.5 and 8.7, respectively) and severity (OR = 1.99 and 8.59, respectively). Elevated levels of all biochemical markers were significantly correlated with higher severity of disease…
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Artikel Jurnal
Association of Klotho gene polymorphism (rs1207568) and serum miR-192 expression with secondary hyperparathyroidism in Egyptian hemodialysis patients
Abstract Background Secondary hyperparathyroidism (SHPT) is a common complication of chronic kidney disease–mineral and bone disorder (CKD-MBD) in patients receiving maintenance hemodialysis. Genetic and epigenetic regulators of mineral metabolism, including Klotho gene polymorphisms and microRNAs…
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Artikel Jurnal
In silico identification of damaging CDK4 variants linked to cancer pathogenesis: functional and structural insights
Abstract Background Cyclin-dependent kinase 4 (CDK4) plays an essential role in cell cycle regulation, and its dysregulation has been implicated in multiple cancers. Finding harmful CDK4 mutations can help with cancer research and create tailored treatments. The CDK4 gene encodes the protein CDK4…
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Artikel Jurnal
The diet–gene interaction: FTO rs9939609 and its role in obesity and metabolic syndrome among Asian populations
Abstract Background The FTO rs9939609 gene variant has been widely studied for its role in obesity and metabolic syndrome, yet its interaction with dietary factors remains underexplored in Asian populations. Methods This review synthesizes evidence from studies conducted between 2014 and 2024 to…
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Artikel Jurnal
MicroRNA (miRNA) in bronchoalveolar lavage (BAL) for lung cancer: a systematic review
Abstract Background Lung cancer remains one of the most lethal malignancies globally, with a five-year survival rate of approximately 23% largely due to diagnosis at advanced stages. As tissue biopsy presents challenges related to accessibility, invasiveness, and procedural risks, there is a…
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Artikel Jurnal
MiRNAs’ impact on human reproduction: their roles as diagnostic biomarkers
Abstract MiRNAs are the most important molecules, involved in almost every process, such as growth, differentiation, and apoptosis, within living cells and from normal development to diseases. Therefore, their unique features, such as noninvasiveness, long-term availability in body fluids, and…
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Artikel Jurnal
Genetic association of ABCA1 gene polymorphism (rs1800977 & rs2230806) and susceptibility to type 2 diabetes mellitus in South Indian cohort
Abstract Background Type 2 diabetes mellitus is a chronic metabolic condition characterized by persistent hyperglycaemia due to insufficient insulin production, often accompanied by disruptions in carbohydrate, fat, and protein metabolism. The ATP-binding cassette transporter A1 (ABCA1) plays a…
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