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β-thalassemia due to de novo mutation IVS1-5(G > C) at HBB gene in three cases from West Bengal
β-thalassemia due to de novo mutation IVS1-5(G > C) at HBB gene in three cases from West Bengal
Beta-thalassemia is the commonest single-gene blood disorder worldwide with global prevalence rate of 5–7%. It is al...
The clinicopathological and prognostic significances of CMTM6 and PD-L1 expression in breast cancer
The clinicopathological and prognostic significances of CMTM6 and PD-L1 expression in breast cancer
Chemokine-like factor-like MARVEL transmembrane domain-containing 6 (CMTM6) is recognized as a critical regulator of progr...
Expression levels of taste genes, TAS1R1, TAS1R2 and TAS1R3 among SARS-CoV-2 patients
Expression levels of taste genes, TAS1R1, TAS1R2 and TAS1R3 among SARS-CoV-2 patients
The most common symptoms of COVID-19 infection include fever, myalgia, cough, dyspnea, and loss of smell and taste. Some s...
In silico analysis of non-synonymous single nucleotide polymorphisms of human ABCD1 gene associated with adrenoleukodystrophy
In silico analysis of non-synonymous single nucleotide polymorphisms of human ABCD1 gene associated with adrenoleukodystrophy
The ABCD1 gene is a part of the ABC transporter family that encodes proteins involved in lipid and metabolite transport. N...
Case report: a novel heterozygous COL4A4 mutation causing autosomal dominant Alport syndrome
Case report: a novel heterozygous COL4A4 mutation causing autosomal dominant Alport syndrome
Autosomal Dominant Alport Syndrome (ADAS) is a rare genetic disorder caused by mutations in the COL4A3, COL4A4, or COL4A5 ...
Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer
Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer
Apoptosis-signaling kinase 1 is a MAPKKK (mitogen-activated protein kinase) overexpressed in various types of human cancer...
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...
Computational analysis of non-synonymous SNPs in the human LCN2 gene
Computational analysis of non-synonymous SNPs in the human LCN2 gene
Lipocalin-2 (LCN2), a neutrophil gelatinase-associated protein, plays an important role in iron homeostasis, infection, an...
Assessment of interleukin-6 and cathepsin-B gene expression in breast cancer women
Assessment of interleukin-6 and cathepsin-B gene expression in breast cancer women
Breast cancer (BC) is the most prevalent cancer and the leading cause of cancer-related deaths in women globally. Cysteine...
Prognostic significance of miR 499 expression and Helicobacter pylori infection in malignant lesions of gallbladder cancer: a clinicopathological study
Prognostic significance of miR 499 expression and Helicobacter pylori infection in malignant lesions of gallbladder cancer: a clinicopathological study
Gallbladder cancer (GBC) is an infrequent type of malignant neoplasm worldwide. There are a number of risk factors that in...
A brief review of noncoding RNA
A brief review of noncoding RNA
The genetic code for every organism is stored in biomolecules the deoxyribonucleic acid (DNA) and the ribonucleic acid (RN...
Characteristics of DNMT3a mutation in acute myeloid leukemia and its prognostic implication
Characteristics of DNMT3a mutation in acute myeloid leukemia and its prognostic implication
Acute myeloid leukemia (AML) is a clonal disorder arising from the differentiation arrest of myeloid precursor and maligna...
Association between genetic polymorphisms and other attributing factors with lipid profiles among statin users: a cross-sectional retrospective study
Association between genetic polymorphisms and other attributing factors with lipid profiles among statin users: a cross-sectional retrospective study
Statins are well known for their efficacy to improve lipid profiles. Their efficacy varies between individuals and can be ...
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontop...
Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
Retinoic Acid-Induced 1 gene variants associated with Smith–Magenis syndrome circadian phenotypes enriched in autism spectrum disorder: whole-genome sequencing study
This study aimed to characterize the frequency of RAI1 genetic aberrations associated with Smith–Magenis syndrome (S...
Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population
Association of leptin–melanocortin gene polymorphisms with the risk of obesity in northwest Indian population
Obesity, a multifaceted endocrine issue, is adversely affecting all age groups and is posing a significant public health c...
A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma
Melanomas are highly aggressive in nature known for metastasis and death. Melanocytes that gave rise to melanomas are neur...
Effect of oxidative stress-related genetic variants: “Explicating the role of reactive oxygen species influenced antioxidant gene polymorphism,” a risk stratification of type 2 diabetes mellitus-associated nephropathy: a systematic review
Effect of oxidative stress-related genetic variants: “Explicating the role of reactive oxygen species influenced antioxidant gene polymorphism,” a risk stratification of type 2 diabetes mellitus-associated nephropathy: a systematic review
Type 2 diabetes mellitus is believed to be associated with microvascular complications which include diabetic retinopathy,...
The study of the impact of additional chromosomal aberrations and c-MYC and BCR::ABL1 genes amplification on CML patient’s characteristics: relation to haematological parameters and patient outcome
The study of the impact of additional chromosomal aberrations and c-MYC and BCR::ABL1 genes amplification on CML patient’s characteristics: relation to haematological parameters and patient outcome
Chronic myeloid leukaemia is characterised by genetic instability which results in additional cytogenetic aberrations that...
Identification of the cuproptosis-related ceRNA network and risk model in acute ischemic stroke by integrated bioinformatics analysis
Identification of the cuproptosis-related ceRNA network and risk model in acute ischemic stroke by integrated bioinformatics analysis
Acute ischemic stroke (AIS) is one of the leading contributors to death and disability in adults. And cuproptosis is a nov...
B-lymphocyte-activating factor is a potential biomarker associated with susceptibility to Graves’ disease in Iraqi women
B-lymphocyte-activating factor is a potential biomarker associated with susceptibility to Graves’ disease in Iraqi women
B-lymphocyte-activating factor (BAFF) is a cytokine involved in regulating the development and maturation of B lymphocyte ...
Association of maternal genetic polymorphisms with fetal growth restriction syndrome in Russian pregnant women from Rostov region
Association of maternal genetic polymorphisms with fetal growth restriction syndrome in Russian pregnant women from Rostov region
Fetal growth restriction (FGR) is one of the main syndromes causing fetal morbidity and mortality. It was known to be asso...
Association of ABCA1 gene with Coronary Artery Disease (CAD): an overview
Association of ABCA1 gene with Coronary Artery Disease (CAD): an overview
This review is a summarized study on CAD, CVD, atherosclerosis, and its association with the ABCA1 gene. Only 13 clinical ...
Association of OXTR polymorphism (rs53576) with depression: a meta-analysis
Association of OXTR polymorphism (rs53576) with depression: a meta-analysis
Depression is a common psychiatric disorder that negatively affects mood and thoughts. Association studies of OXTR polymor...
Effect of Dioscorea extract on Bax and Bcl-2 gene expression in MCF-7 and HFF cell lines
Effect of Dioscorea extract on Bax and Bcl-2 gene expression in MCF-7 and HFF cell lines
In cancer cells, the balance between proliferation and apoptosis is disturbed. There is a direct relationship between gene...
Association of ADAM33 gene with COPD pathophysiology: a case–control study
Association of ADAM33 gene with COPD pathophysiology: a case–control study
Worldwide, Chronic Obstructive pulmonary disease (COPD) is a main cause of morbidity and mortality. Considering the global...
Effect of hydroxyurea on SP1, LIN28B, IGF2BP3, COL4A5, BCL2, gamma globin genes expression: an in vitro study
Effect of hydroxyurea on SP1, LIN28B, IGF2BP3, COL4A5, BCL2, gamma globin genes expression: an in vitro study
In some β-thalassemia intermedia patients, hydroxyurea (HU) increases hemoglobin and HbF levels. However, HUs’ ...
Integrative bioinformatics analysis of miRNA and mRNA expression profiles identified some potential biomarkers for breast cancer
Integrative bioinformatics analysis of miRNA and mRNA expression profiles identified some potential biomarkers for breast cancer
Breast cancer is a common cause of cancer death among women with a complex and heterogeneous picture in histological, mole...
Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis
Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis
Neurodevelopmental diseases are a group of disorders affecting the development of the nervous system and brain function. I...
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