Associated Papers
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
BRAF mutations and targeted therapy in unclassified pericytic tumors: insights from genetic analysis and clinical response.
Golan H et al.
Bmc Cancer, 2025
Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.
Chaubal R et al.
Breast Cancer Research and Treatment, 2025
Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.
Kerle IA et al.
Npj Precision Oncology, 2025
IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.
Arango-Franco CA et al.
The Journal of Clinical Investigation, 2024
Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.
Vanni I et al.
Journal of Translational Medicine, 2024
Case of T-B+NK+ X-Linked Severe Combined Immunodeficiency Disease.
Qian W et al.
Case Reports in Medicine, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.
Gnatenko DV et al.
Blood Advances, 2022
Interaction of Interleukin 7 Receptor (IL7R) and IL6 Gene Polymorphisms with Smoking Associated with Susceptibility to Asthma in Chinese Han Adults.
Du JW et al.
Immunological Investigations, 2022
Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.
Tsukahara S et al.
Scientific Reports, 2022
Computational studies reveal co-occurrence of two mutations in IL7R gene of high-grade serous carcinoma patients.
Wadapurkar RM et al.
Journal of Biomolecular Structure & Dynamics, 2022
Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.
Yoshizawa T et al.
Npj Precision Oncology, 2021
A bioinformatic approach to investigating cytokine genes and their receptor variants in relation to COVID-19 progression.
Karakas Celik S et al.
International Journal of Immunogenetics, 2021
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
IL7RA genetic variants differentially affect IL-7Rα expression and alternative splicing: a role in autoimmune and infectious diseases?
Lundtoft C et al.
Genes and Immunity, 2020
The new-generation selective ROS1/NTRK inhibitor DS-6051b overcomes crizotinib resistant ROS1-G2032R mutation in preclinical models.
Katayama R et al.
Nature Communications, 2019
An IL7RA exon 5 polymorphism is associated with impaired IL-7Rα splicing and protection against tuberculosis in Ghana.
Lundtoft C et al.
Genes and Immunity, 2019
Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.
Feng L et al.
Journal of Oncology, 2019
Deep Resequencing of Ulcerative Colitis-Associated Genes Identifies Novel Variants in Candidate Genes in the Korean Population.
Moon CM et al.
Inflammatory Bowel Diseases, 2018
Surgical therapy and next-generation sequencing-based genetic alteration analysis of malignant solitary fibrous tumor of the pleura.
Song Z et al.
Oncotargets and Therapy, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.
Nakagaki T et al.
Oncotarget, 2017
Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencing.
Chang YS et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemia.
Lu C et al.
Cold Spring Harbor Molecular Case Studies, 2016
Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).
Sanyal M et al.
Clinical Immunology (orlando, Fla.), 2015
A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).
Tan W et al.
Immunogenetics, 2015
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.
Prescott NJ et al.
Plos Genetics, 2015
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Shankar GM et al.
Acta Neuropathologica Communications, 2014
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.
Abedalthagafi MS et al.
Oncotarget, 2014
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
IL-7R α polymorphisms in 60 Iranian multiple sclerosis patients.
Raji MA et al.
Iranian Journal of Neurology, 2012