Aiysha Abid
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View article: Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation
Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation Open
Background Primary immunodeficiency disorders (PID) are rare disorders with heterogeneous manifestations, overlapping with other diseases such as autoimmunity, malignancy, and infections. This makes the diagnosis very challenging and delay…
View article: Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease
Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease Open
Type III von Willebrand disease is present in the Punjab province of Pakistan along with other inherited bleeding disorders like hemophilia. Cousin marriages are very common in Pakistan so genetic studies help to establish protocols for sc…
View article: The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population
The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population Open
Background: Pharmacogenomics (PGx), forming the basis of precision medicine, has revolutionized traditional medical practice. Currently, drug responses such as drug efficacy, drug dosage, and drug adverse reactions can be anticipated based…
View article: Absence of Glutathione S-Transferase Theta 1 Gene Is Significantly Associated With Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis
Absence of Glutathione S-Transferase Theta 1 Gene Is Significantly Associated With Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis Open
Purpose Deletion of Glutathione S-Transferase Theta 1 (GSTT1) encoding gene is implicated in breast cancer susceptibility, clinical outcomes, and survival. Contradictory results have been reported in different studies. The present investig…
View article: Independent, Diplotype and Haplotype Association Analyses of the Selected <i>MTHFR</i> SNPs with the Risk of Breast Cancers in a South-Asian Population
Independent, Diplotype and Haplotype Association Analyses of the Selected <i>MTHFR</i> SNPs with the Risk of Breast Cancers in a South-Asian Population Open
PURPOSE MTHFR is a pivotal enzyme in the folic acid cycle. In specific populations, two functional SNPs in the encoding gene, i.e. rs1801133 (677C/T) and rs1801131 (1298A/C), have shown associations with different diseases including cancer…
View article: Strong and Significant Associations of Single Nucleotide Variants (SNVs) in the Promoter and 3’-Untranslated Region (3’-UTR) of<i>Vascular Endothelial Growth Factor</i>(<i>VEGF</i>) Gene with Head and Neck Cancers
Strong and Significant Associations of Single Nucleotide Variants (SNVs) in the Promoter and 3’-Untranslated Region (3’-UTR) of<i>Vascular Endothelial Growth Factor</i>(<i>VEGF</i>) Gene with Head and Neck Cancers Open
Background Vascular Endothelial Growth Factor (VEGF) has a potent role in tumorigenesis and metastasis. However, data for the role of common single nucleotide variants (SNVs) in the highly polymorphic VEGF gene in head and neck cancers (HN…
View article: Role of Ecologic ACE I/D Polymorphism Data Towards Prediction of COVID-19 Epidemiology
Role of Ecologic ACE I/D Polymorphism Data Towards Prediction of COVID-19 Epidemiology Open
COVID-19 displays marked variability in the clinical course as well as regional epidemiology. Abnormalities in RAAS system especially stemming from genetic variability in ACE and ACE2 expression (including ACE I/D polymorphism) have been p…
View article: Absence of <i>Glutathione S-Transferase Theta 1</i> Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis
Absence of <i>Glutathione S-Transferase Theta 1</i> Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis Open
Purpose Deletion of G lutathione S - T ransferase T heta 1 (GSTT1) encoding gene is implicated in breast cancer susceptibility, clinical outcomes, and survival. Contradictory results have been reported in different studies. The present inv…
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) …
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background: Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1)…
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background: Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1)…
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background: Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1)…
View article: Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population
Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population Open
Acute myeloid leukemia (AML) is a hematological malignancy characterized by clonal expansion of blast cells that exhibit great genetic heterogeneity. In this study, we describe the mutational landscape and its clinico-pathological signific…
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background: Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1)…
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background: Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1)…
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background: Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1)…
View article: Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Background Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) …
View article: Additional file 9 of Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study
Additional file 9 of Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study Open
Additional file 9. Raw dataset with details of genotypes and phenotypes of every study subject analyzed for SPP1 polymorphisms in this study.
View article: A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family Open
Leukocyte adhesion deficiency-III (LAD3) is an extremely rare primary immunodeficiency disorder, transmitted with autosomal-recessive inheritance. It is caused by genetic alteration in the FERMT3 gene, which leads to abnormal expression of…
View article: Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome Open
Mutations in the NPHS1, NPHS2, LAMB2, and the WT1 genes are responsible for causing nephrotic syndrome (NS) in two third of the early onset cases. This study was carried out to assess the frequencies of mutations in these genes in a cohort…
View article: Analysis of the glutathione S-transferase genes polymorphisms in the risk and prognosis of renal cell carcinomas. Case-control and meta-analysis
Analysis of the glutathione S-transferase genes polymorphisms in the risk and prognosis of renal cell carcinomas. Case-control and meta-analysis Open
In conclusion, this meta-analysis suggests that the 2 GSTs deletion polymorphisms independently have no association with the risk of RCC. However, combination of both deletions increases the risk of developing the RCC.