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In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder
In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder
Single nucleotide polymorphism (SNP) is called changes in a single base sequence in DNA between individuals. Micro-RNAs (m...
Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach
Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach
Amyotrophic lateral sclerosis (ALS), an alarming neurodegenerative disorder, induces muscle atrophy and motor deterioratio...
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants
Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II) is an autosomal recessive rare genetic condition marke...
Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran
Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran
Genetic disorders are common in the Eastern Mediterranean region due to the high prevalence of consanguineous marriages. T...
Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder
Implications of cytokine genes polymorphisms in Jordanian patients with obsessive compulsive disorder
Obsessive–compulsive disorder (OCD) is a common and often highly debilitating chronic neuropsychiatric condition. Th...
Analysis of genetic and pathologic association between diabetes mellitus and cervical cancer
Analysis of genetic and pathologic association between diabetes mellitus and cervical cancer
Cervical cancer is the fourth most common cancer among women globally and second most common in India. As per WHO, almost ...
INI1 (SMARCB1) deletion of lung cancer: a case report and literature review
INI1 (SMARCB1) deletion of lung cancer: a case report and literature review
Integrase interaction factor 1 (INI1), also known as switch/sucrose non-fermentable (SWI/SNF)-related matrix-associated ac...
Association between BAFF gene polymorphism and systemic lupus erythematosus: a meta-analysis
Association between BAFF gene polymorphism and systemic lupus erythematosus: a meta-analysis
To inquire into the association from BAFF gene promoter -871C > T single nucleotide polymorphisms (SNP)...
An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis
An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis
Lysosomal acid lipase (LAL) deficiency is hyperinflammatory disease caused by the deficiency of the enzyme which hydrolyze...
Unravelling variants in Farber disease: diagnostic and prenatal challenges in atypical presentations
Unravelling variants in Farber disease: diagnostic and prenatal challenges in atypical presentations
Farber disease (FD; OMIM #228000), also known as Farber's lipogranulomatosis, is a rare lysosomal storage disease caus...
Novel oxidative stress- and ferroptosis-related gene prognostic signature for erectile dysfunction
Novel oxidative stress- and ferroptosis-related gene prognostic signature for erectile dysfunction
Studies have suggested that Guizhi Jia Longgu Muli decoction (GuiZhiJiaLongGuMuLiTang) has a therapeutic effect on erectil...
Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia
Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia
Myocardial ischemia is a significant problem in cardiovascular health caused by the obstruction or constriction of coronar...
Alterations in the metabolic signature of full-term infants of diabetic mothers
Alterations in the metabolic signature of full-term infants of diabetic mothers
Maternal diabetes during pregnancy may alter the metabolomic profile of the offspring, increasing the risk of perinatal co...
Inhibition of JAK2 and MDM2 to treat secondary acute myeloid leukemia evolving from myelofibrosis
Inhibition of JAK2 and MDM2 to treat secondary acute myeloid leukemia evolving from myelofibrosis
Myelofibrosis (MF) is characterized by splenomegaly, extramedullary hematopoiesis, bone marrow fibrosis, anemia, constitut...
Double trouble: how c-MET and HER2 fuel bladder cancer progression
Double trouble: how c-MET and HER2 fuel bladder cancer progression
Bladder cancer is still a prevalent, heterogeneous, and challenging disease. Most cases are non-muscle invasive and carry ...
A perspective on the genesis, diagnostics, and management of sickle cell disease
A perspective on the genesis, diagnostics, and management of sickle cell disease
Hemoglobinopathies, including sickle cell disease (SCD), have been recognized as a major health problem globally. SCD is c...
UCP2 45-bp insertion/deletion polymorphism and obesity phenotype in the Lebanese population: a preliminary study
UCP2 45-bp insertion/deletion polymorphism and obesity phenotype in the Lebanese population: a preliminary study
Obesity is a significant health concern in Lebanon, contributing to various chronic diseases. Uncoupling Protein 2 (UCP2) ...
Decoding the role of NOS3 rs1799983 and PON1 rs662 variants in cardiovascular diseases
Decoding the role of NOS3 rs1799983 and PON1 rs662 variants in cardiovascular diseases
Cardiovascular diseases (CVDs) are complex diseases determined by various environmental risk factors and genetic susceptib...