Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Somatic mutations reveal hyperactive Notch signaling and racial disparities in prurigo nodularis.
Rajeh A et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
Caspase-9: A Multimodal Therapeutic Target With Diverse Cellular Expression in Human Disease.
Avrutsky MI et al.
Frontiers in Pharmacology, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Skowron MA et al.
Scientific Reports, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Influence of Caspase-9 polymorphisms on the development of Chronic Myeloid Leukemia- A case-control study.
Edathara PM et al.
Gene, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Role of Caspase-9 Gene Ex5+32 G>A (rs1052576) Variant in Susceptibility to Primary Brain Tumors.
Ozdogan S et al.
Anticancer Research, 2017
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Lonjou C et al.
Bmc Cancer, 2017
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Effective Therapeutic Intervention and Comprehensive Genetic Analysis of mTOR Signaling in PEComa: A Case Report.
Weeber F et al.
Anticancer Research, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Association of caspase9 promoter polymorphisms with the susceptibility of AML in south Indian subjects.
Cingeetham A et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2014
Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.
Nasuno T et al.
Cancer Science, 2014
A meta-analysis of caspase 9 polymorphisms in promoter and exon sequence on cancer susceptibility.
Xu W et al.
Plos One, 2012
Caspase 9 gene polymorphism and susceptibility to lumbar disc disease in the Han population in northern China.
Sun ZM et al.
Connective Tissue Research, 2011
Risk of malignant pleural mesothelioma and polymorphisms in genes involved in the genome stability and xenobiotics metabolism.
Gemignani F et al.
Mutation Research, 2009
Bladder cancer SNP panel predicts susceptibility and survival.
Andrew AS et al.
Human Genetics, 2009
CASP-9: A susceptibility locus for multiple sclerosis in Italy.
Andreoli V et al.
Journal of Neuroimmunology, 2009
Genotyping panel for assessing response to cancer chemotherapy.
Dai Z et al.
Bmc Medical Genomics, 2008
Single Nucleotide Polymorphisms in Selected Apoptotic Genes and BPDE-Induced Apoptotic Capacity in Apparently Normal Primary Lymphocytes: A Genotype-Phenotype Correlation Analysis.
Hu Z et al.
Journal of Cancer Epidemiology, 2008
DNA repair and cell cycle control genes and the risk of young-onset lung cancer.
Landi S et al.
Cancer Research, 2006
A database of single-nucleotide polymorphisms and a genotyping microarray for genetic epidemiology of lung cancer.
Landi S et al.
Experimental Lung Research, 2005
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.
Abel F et al.
British Journal of Cancer, 2002