Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.

Malignancies in the context of Inborn errors of immunity: an immunologist's view.

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.

G-quadruplex structures are key regulators of mammalian spermatogenesis.

Newborn screening for SCID and severe T- and B-cell lymphopenia in Ukraine: the first analysis of the results, 2022-2025.

Loss of Nuclear Profilin 1 Triggers Oncogenic Reprogramming of Mammary Epithelial Cells Through Dysregulated DNA Replication in Breast Cancer.

Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient.

Successful combined anti-CD19 immunotherapy of relapsed acute lymphoblastic leukaemia in a child with Nijmegen breakage syndrome.

Investigating telomere length in progeroid syndromes: implications for aging disorders.

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

NBS1 from Physcomitrium patens confers resistance against oxidative stress through the BRCA1 C-terminus (BRCT) domain, independent of the MRE11 interaction.

Mouse MRE11-RAD50-NBS1 is needed to start and extend meiotic DNA end resection.

NBS1 facilitates preribosomal RNA biogenesis.

Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.

RPUSD1 enhances the expression of eIF4E through RluA catalytic domain, activates PI3K/AKT signaling pathway, and promotes the cell proliferation and invasion in non-small cell lung cancer.

The Significance of the Response: Beyond the Mechanics of DNA Damage and Repair-Physiological, Genetic, and Systemic Aspects of Radiosensitivity in Higher Organisms.

Neuroblastoma Occurring in Nijmegen Breakage Syndrome.

NBS1 dePARylation by NUDT16 is critical for DNA double-strand break repair.

Resolution of granulomatous lesions in a Nijmegen breakage syndrome patient with severe immunodeficiency after hematopoietic stem cell transplantation.

Update on Recommendations for Cancer Screening and Surveillance in Children with Genomic Instability Disorders.

Liver Transplantation for Nijmegen Breakage Syndrome With Hepatic Malignancy and Hepatopulmonary Syndrome After Bone Marrow Transplantation: A Case Report.

Genetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia.

Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine.

NBS1 lactylation is required for efficient DNA repair and chemotherapy resistance.

MRE11 is essential for the long-term viability of undifferentiated spermatogonia.

A Rare Case of Early T-Precursor Lymphoblastic Lymphoma (ETP-LBL) in a Child With Nijmegen Breakage Syndrome.

Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome.

[Research Progress in the Roles of MRE11-RAD50-NBS1 Complex and Human Diseases].

Glucose control during pregnancy in patients with type 1 diabetes correlates with fetal hemodynamics: a prospective longitudinal study.

Germ line genetic NBN variation and predisposition to B-cell acute lymphoblastic leukemia in children.

Accuracy of unilateral and bilateral gait assessment using a mobile gait analysis system at different walking speeds.

Time is the enemy: Negative symptoms are related to even slight differences in the duration of untreated psychosis.

Suppression of NBS1 Upregulates CyclinB to Induce Olaparib Sensitivity in Ovarian Cancer.

Neurological involvement in patients with primary immunodeficiency.

Metastasis of ovarian cancer to nasal skin and skin on the trunk: a rare case report.

Phosphorylated Hsp27 promotes adriamycin resistance in breast cancer cells through regulating dual phosphorylation of c-Myc.

Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.

Plasma Circulating Cell-free DNA in Advanced Hepatocellular Carcinoma Patients Treated With Radiation Therapy.

Germline Genetic NBN Variation and Predisposition to B-cell Acute Lymphoblastic Leukemia in Children.

Dissection of DNA damage and repair pathways in live cells by femtosecond laser microirradiation and free-electron modeling.

An electrocardiographic score to predict pulmonary hypertension in children with atrial septal defect.

Simultaneous Nbs1 and p53 inactivation in neural progenitors triggers high-grade gliomas.

A rare case of primary gastric Hodgkin lymphoma in an adolescent with Nijmegen breakage syndrome.

Clinical and laboratory diversity of diffuse large B-cell lymphomas in children with Nijmegen breakage syndrome.

Infections in DNA Repair Defects.

The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.

[Warsaw breakage syndrome: an etiology for congenital microcephaly and sensorineural deafness].

Safety and effectiveness of intravitreal dexamethasone implant in patients with ocular toxocariasis.

Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up.

Prenatal polycyclic aromatic hydrocarbon (PAH) exposure in relation to placental corticotropin releasing hormone (pCRH) in the CANDLE pregnancy cohort.

Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.

Early hyperdopaminergic state following sub-thalamic nucleus deep brain stimulation in Parkinson disease.

Clinical characterisation of patients in the post-acute stage of anti-NMDA receptor encephalitis: a prospective cohort study and comparison with patients with schizophrenia spectrum disorders.

Maternal Predictors of Breast Milk Plasmalogens and Associations with Infant Body Composition and Neurodevelopment.

[Effect of multimodal rheumatologic complex treatment in patients with axial spondylarthritis : A systematic evaluation with standardized outcome parameters, such as the ASAS Health Index].

Development of an Effective Immune Response in Adults With Down Syndrome After Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Vaccination.

Impact of Covid-19 Pandemic on the Effectiveness of Outpatient Counseling in Childhood Obesity Management.

A gene dosage-dependent effect unveils NBS1 as both a haploinsufficient tumour suppressor and an essential gene for SHH-medulloblastoma.

Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies.

Metabolic Slowing Vanished 5 Years After Sleeve Gastrectomy in Patients With Obesity and Prediabetes/Diabetes.

Radiotherapy and radiosensitivity syndromes in DNA repair gene mutations.

Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders.

Impact of Greater Occipital Nerve Block on Photophobia Levels in Migraine Patients.

NBS1 protein from Physcomitrium patens confers protection against oxidative damage by limiting the accumulation of cellular reactive oxygen species.

Impaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids.

Subcutaneous injection of infliximab CT-P13 results in stable drug levels within 14-day treatment cycle in Crohn's disease.

NBS1-CtIP-mediated DNA end resection suppresses cGAS binding to micronuclei.

The Essential DNA Damage Response Complex MRN Is Dispensable for the Survival and Function of Purkinje Neurons.

An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.

GSTpi reduces DNA damage and cell death by regulating the ubiquitination and nuclear translocation of NBS1.

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.

Spectrum of hematological malignancies, clonal evolution and outcomes in 144 Mayo Clinic patients with germline predisposition syndromes.

Protein Arginine Methyltransferase 1 Is Essential for the Meiosis of Male Germ Cells.

MRN Complex and Cancer Risk: Old Bottles, New Wine.

MYC/NBS1-Mediated DNA Damage Response is Involved in the Inhibitory Effect of Hydroxysafflor Yellow A on Glioma Cells.

Nbs1-mediated DNA damage repair pathway regulates haematopoietic stem cell development and embryonic haematopoiesis.

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5.

Impairment of sirtuin 1-mediated DNA repair is involved in bisphenol A-induced aggravation of macrophage inflammation and atherosclerosis.

DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.

Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Hematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.

ROS-dependent DNA damage and repair during germination of NaCl primed seeds.

NBS1 interacts with Notch signaling in neuronal homeostasis.

Hepatitis B virus preS2Δ38-55 variants: A newly identified risk factor for hepatocellular carcinoma.

Chromosomal instability associated with adverse outcome: a case report of patient with Nijmegen breakage syndrome and rapidly developed T-NHL with complex karyotype.

T Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway.

A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.

Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.

Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Nijmegen breakage syndrome: case report and review of literature.

Evaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study.

Association of Nijmegen Breakage Syndrome 1 Genotypes With Bladder Cancer Risk.

Human RAD50 deficiency: Confirmation of a distinctive phenotype.

Modeling cancer genomic data in yeast reveals selection against ATM function during tumorigenesis.

Chromothripsis and DNA Repair Disorders.

Hematopoietic Stem Cell Transplantation for DNA Double Strand Breakage Repair Disorders.

NBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.

Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia.

Complex profile of multiple hepatobiliary and gastrointestinal complications after hematopoietic stem cell transplantation in a child with Nijmegen breakage syndrome.

NBS1 interacts with HP1 to ensure genome integrity.

The Replisome Mediates A-NHEJ Repair of Telomeres Lacking POT1-TPP1 Independently of MRN Function.

Chromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders.

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

E2F1 acetylation directs p300/CBP-mediated histone acetylation at DNA double-strand breaks to facilitate repair.

Antioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome.

Chromosome instability syndromes.

Nbn-Mre11 interaction is required for tumor suppression and genomic integrity.

Attenuating the DNA damage response to double-strand breaks restores function in models of CNS neurodegeneration.

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management.

Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.

Non-Hodgkin Lymphoma Secondary to Hodgkin Lymphoma in an Adult Patient With Nijmegen Breakage Syndrome.

Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.

Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas.

Case 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn.

Poly(ADP-ribose) polymerase-1 promotes recruitment of meiotic recombination-11 to chromatin and DNA double-strand break repair in Ku70-deficient breast cancer cells.

The Major Tegument Protein of Bovine Herpesvirus 1, VP8, Interacts with DNA Damage Response Proteins and Induces Apoptosis.

The MRE11-RAD50-NBS1 Complex Conducts the Orchestration of Damage Signaling and Outcomes to Stress in DNA Replication and Repair.

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.

Interdependent and separable functions of Caenorhabditis elegans MRN-C complex members couple formation and repair of meiotic DSBs.

Genetic testing for hereditary prostate cancer: Current status and limitations.

Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

NBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.

A non-synonymous polymorphism in NBS1 is associated with progression from chronic hepatitis B virus infection to hepatocellular carcinoma in a Chinese population.

Inactivation of ribosomal protein S27-like confers radiosensitivity via the Mdm2-p53 and Mdm2-MRN-ATM axes.

Damage-induced lncRNAs control the DNA damage response through interaction with DDRNAs at individual double-strand breaks.

Reversible Hypogammaglobulinemia in 2 Pediatric Patients With Primary Immunodeficiency.

CTCF prevents genomic instability by promoting homologous recombination-directed DNA double-strand break repair.

Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae.

MRE11 Promotes Tumorigenesis by Facilitating Resistance to Oncogene-Induced Replication Stress.

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT).

Nijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants.

Effects of Pulsed Electromagnetic Fields on Breast Cancer Cell Line MCF 7 Using Absorption Spectroscopy.

Hsp90α regulates ATM and NBN functions in sensing and repair of DNA double-strand breaks.

Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

DNA Damage Response in Human Stem Cells and Neural Descendants.

Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer.

Parkin regulates translesion DNA synthesis in response to UV radiation.

Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.

NBS1 is regulated by two kind of mechanisms: ATM-dependent complex formation with MRE11 and RAD50, and cell cycle-dependent degradation of protein.

Stimulation of lactate receptor (HCAR1) affects cellular DNA repair capacity.

NBS1 Phosphorylation Status Dictates Repair Choice of Dysfunctional Telomeres.

Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.

An Approach to Elucidate NBS1 Function in DNA Repair Using Frequent Nonsynonymous Polymorphism in Wild Medaka (Oryzias latipes) Populations.

The Mre11-Nbs1 Interface Is Essential for Viability and Tumor Suppression.

Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.

Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.

The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?

Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer.

High Expression of MRE11-RAD50-NBS1 Is Associated with Poor Prognosis and Chemoresistance in Gastric Cancer.

T-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome.

Chromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients.

Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents.

NBS1 and multiple regulations of DNA damage response.

Epidermal Nbn deletion causes premature hair loss and a phenotype resembling psoriasiform dermatitis.

The MRX Complex Ensures NHEJ Fidelity through Multiple Pathways Including Xrs2-FHA-Dependent Tel1 Activation.

Generation of iPSC lines from a Nijmegen Breakage Syndrome patient.

Severe mitochondrial damage associated with low-dose radiation sensitivity in ATM- and NBS1-deficient cells.

Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.

Preexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact.

Deletion of NAD(P)H:quinone oxidoreductase 1 represses Mre11-Rad50-Nbs1 complex protein expression in cisplatin-induced nephrotoxicity.

β-Lapachone enhances Mre11-Rad50-Nbs1 complex expression in cisplatin-induced nephrotoxicity.

DNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation.

Defining ATM-Independent Functions of the Mre11 Complex with a Novel Mouse Model.

OGT mediated histone H2B S112 GlcNAcylation regulates DNA damage response.

NBS1 is required for macrophage homeostasis and functional activity in mice.

Functional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.

Nbs1 ChIP-Seq Identifies Off-Target DNA Double-Strand Breaks Induced by AID in Activated Splenic B Cells.

MCM8-9 complex promotes resection of double-strand break ends by MRE11-RAD50-NBS1 complex.

EXO1 is critical for embryogenesis and the DNA damage response in mice with a hypomorphic Nbs1 allele.

Nijmegen breakage syndrome protein 1 (NBS1) modulates hypoxia inducible factor-1α (HIF-1α) stability and promotes in vitro migration and invasion under ionizing radiation.

Repair versus Checkpoint Functions of BRCA1 Are Differentially Regulated by Site of Chromatin Binding.

Hepatitis B virus pre-S2 mutant large surface protein inhibits DNA double-strand break repair and leads to genome instability in hepatocarcinogenesis.

Identification and characterization of a novel gene encoding the NBS1 protein in Pyricularia oryzae.

Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo.

The ATM signaling cascade promotes recombination-dependent pachytene arrest in mouse spermatocytes.

Stemness factor Sall4 is required for DNA damage response in embryonic stem cells.

[Smart choice between two DNA double-strand break repair mechanisms].

Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).