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Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal
Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal
Globozoospermia is a rare but serious teratozoospermia, characterised by ejaculates consisting of entirely of round-headed...
MTRR gene polymorphisms among Egyptian children with acyanotic congenital heart diseases: a case–control study
MTRR gene polymorphisms among Egyptian children with acyanotic congenital heart diseases: a case–control study
Congenital heart diseases (CHDs) represent the most common congenital malformations, with genetic factors playing a crucia...
MicroRNA-27a gene polymorphism (rs895819) association with risk of pulmonary tuberculosis (PTB): A case–control study
MicroRNA-27a gene polymorphism (rs895819) association with risk of pulmonary tuberculosis (PTB): A case–control study
Pulmonary tuberculosis (PTB), caused by the bacteria Mycobacterium tuberculosis (M.tb), remains a significant global healt...
Bioinformatics analysis for immune hub genes in BLIS subtype of triple-negative breast cancer
Bioinformatics analysis for immune hub genes in BLIS subtype of triple-negative breast cancer
Triple-negative breast cancer (TNBC) characterizes a significant clinical challenge due to limited therapeutic options res...
Effect of HER2 Ile655Val polymorphism on the response to trastuzumab treatment in HER2-positive breast cancer patients
Effect of HER2 Ile655Val polymorphism on the response to trastuzumab treatment in HER2-positive breast cancer patients
HER2-positive breast cancer (HPBC) occurs in 20–25% of breast cancer patients and is characterized by a poor prognos...
Investigating the association of exon variant rs1800470 of TGF-β1 gene with the risk of stroke using a meta-analysis approach
Investigating the association of exon variant rs1800470 of TGF-β1 gene with the risk of stroke using a meta-analysis approach
Ischemic stroke is a type of stroke in which blood vessel blockage prevents blood supply to the brain. Transforming growth...
Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article
Role of sgk1 in cancer: a bibliometric analysis from 2013 to 2023—review article
Serum and glucocorticoid-regulated kinase 1 (SGK1) plays a multifaceted role in cancer progression and treatment resistanc...
A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report
A case of double aneuploidy of Down and Klinefelter syndrome in an Indian infant: a detailed case report
A variation in the number of chromosomes can lead to chromosomal disorders. These chromosomal aberrations might be related...
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...
Transcriptomic analysis delineates potential regulatory network as therapeutic alternatives in chronic myeloid leukemia
Transcriptomic analysis delineates potential regulatory network as therapeutic alternatives in chronic myeloid leukemia
Chronic myeloid leukemia (CML) relapse and progression after discontinuation of tyrosine kinase inhibitors (TKI) therapy i...
Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication
Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication
Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous mani...
Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab
Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab
Presence of Germline mutations in the BRCA1 and BRCA2 genes is the most significant epidemiological factor for breast canc...
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system....
Cellulose acetate electrophoretic separation of serum and urine proteins in Nigerian children with autism spectrum disorders
Cellulose acetate electrophoretic separation of serum and urine proteins in Nigerian children with autism spectrum disorders
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by social communication challenges and...
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...
Genetic-driven biomarkers for liver fibrosis through bioinformatic approach
Genetic-driven biomarkers for liver fibrosis through bioinformatic approach
Liver fibrosis is a widespread chronic liver ailment linked to substantial mortality and limited therapeutic options. An i...
Identification of circRNA–miRNA–mRNA regulatory network associated to the autism spectrum disorder in children through integrated bioinformatics analysis
Identification of circRNA–miRNA–mRNA regulatory network associated to the autism spectrum disorder in children through integrated bioinformatics analysis
Autism spectrum disorder (ASD) is a complex neurological disability with multifactorial etiology. ASD is described by beha...
Insights into the structural and functional analysis of impact of the missense mutations on α-synuclein: an in silico study
Insights into the structural and functional analysis of impact of the missense mutations on α-synuclein: an in silico study
Alpha synuclein (α-synuclein) is coded by SNCA gene and found in a helical form with phospholipids or in an unfolded ...
Challenges in blood transfusion caused by anti-Hr0: A rare case of D-- Phenotype in Asia Abstract
Challenges in blood transfusion caused by anti-Hr0: A rare case of D-- Phenotype in Asia Abstract
D–Phenotype is linked to abnormal expression of RHCE gene. Consequently, individuals with this condition may develop...
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...
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