Associated Papers
Refractory nontuberculous mycobacterial infection and potential hidden immunodeficiency related to RAG mutation and production of anti-interferon-α autoantibodies: a case report.
Liang X et al.
Bmc Infectious Diseases, 2025
Immunological and molecular study in children with combined immunodeficiency.
Kholoussi S et al.
European Annals of Allergy and Clinical Immunology, 2024
Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.
Lin H et al.
Heliyon, 2024
RAG genomic variation causes autoimmune diseases through specific structure-based mechanisms of enzyme dysregulation.
Haque N et al.
Iscience, 2023
Application of circulating tumour DNA in terms of prognosis prediction in Chinese follicular lymphoma patients.
Zhao M et al.
Frontiers in Genetics, 2023
Genetic susceptibility of bladder cancer in the Lebanese population.
Kourie HR et al.
Bmc Medical Genomics, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
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
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis.
Ulusoy E et al.
Journal of Clinical Medicine Research, 2016
Understanding V(D)J recombination initiator RAG1 gene using molecular phylogenetic and genetic variant analyses and upgrading missense and non-coding variants of clinical importance.
Kumar A et al.
Biochemical and Biophysical Research Communications, 2015
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.
Karageorgos I et al.
Human Genomics, 2015
Compound heterozygous mutation of Rag1 leading to Omenn syndrome.
Matthews AG et al.
Plos One, 2015
RAG1 reversion mosaicism in a patient with Omenn syndrome.
Crestani E et al.
Journal of Clinical Immunology, 2014
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
Lee YN et al.
The Journal of Allergy and Clinical Immunology, 2014
Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.
Stoddard JL et al.
Frontiers in Immunology, 2014
Polymorphisms in double-strand breaks repair genes are associated with impaired fertility in Chinese population.
Ji G et al.
Reproduction (cambridge, England), 2013
Association of follicular lymphoma risk with BRCA2 N372H polymorphism in Slovak population.
Salagovič J et al.
Medical Oncology (northwood, London, England), 2012
Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
Kutukculer N et al.
Italian Journal of Pediatrics, 2012
Mild iron overload in an African American man with SLC40A1 D270V.
Lee PL et al.
Acta Haematologica, 2012
Innate immunity and non-Hodgkin's lymphoma (NHL) related genes in a nested case-control study for gastric cancer risk.
Park SK et al.
Plos One, 2012
IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.
Safaei S et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2011
Consanguinity rate and delay in diagnosis in Turkish patients with combined immunodeficiencies: a single-center study.
Azarsiz E et al.
Journal of Clinical Immunology, 2011
Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
Margulis V et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2008
Analysis of variants in DNA damage signalling genes in bladder cancer.
Choudhury A et al.
Bmc Medical Genetics, 2008
Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
Yang H et al.
European Journal of Cancer (oxford, England : 1990), 2008
Polymorphisms in DNA repair genes and risk of non-Hodgkin's lymphoma in New South Wales, Australia.
Shen M et al.
Haematologica, 2007
Polymorphisms in immune function genes and risk of non-Hodgkin lymphoma: findings from the New South Wales non-Hodgkin Lymphoma Study.
Purdue MP et al.
Carcinogenesis, 2007
Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma among women in Connecticut.
Shen M et al.
Human Genetics, 2006
Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
Wu X et al.
American Journal of Human Genetics, 2006
An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology.
Zhu Y et al.
Cancer Research, 2004
The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins.
Noordzij JG et al.
Blood, 2002
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
Wada T et al.
Clinical and Experimental Immunology, 2000