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
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
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.
Bonnard C et al.
The Journal of Experimental Medicine, 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
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
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
Identification of six polymorphisms as novel susceptibility loci for ischemic or hemorrhagic stroke by exome-wide association studies.
Yamada Y et al.
International Journal of Molecular Medicine, 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
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
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 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
Cytokine gene polymorphisms and human autoimmune disease in the era of genome-wide association studies.
Vandenbroeck K
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2012
Associations between single nucleotide polymorphisms and haplotypes in cytokine and cytokine receptor genes and immunity to measles vaccination.
Haralambieva IH et al.
Vaccine, 2011
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Anderson CA et al.
Nature Genetics, 2011
Study of the association between the CAPSL-IL7R locus and type 1 diabetes.
Santiago JL et al.
Diabetologia, 2008
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis.
Gregory SG et al.
Nature Genetics, 2007
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
Todd JA et al.
Nature Genetics, 2007
Antiretroviral therapy immunologic non-response in a Brazilian population: association study using pharmaco- and immunogenetic markers.
Coelho AVC et al.
The Brazilian Journal of Infectious Diseases : an Official Publication of the Brazilian Society of Infectious Diseases, 0