A síndrome de ruptura de Nijmegen é uma doença genética rara que se apresenta ao nascimento com microcefalia, características faciais dismórficas, tornando-se mais perceptíveis com a idade, atraso no crescimento e complicações de início tardio, como malignidades e infecções.
Introdução
O que você precisa saber de cara
A síndrome de ruptura de Nijmegen é uma doença genética rara que se apresenta ao nascimento com microcefalia, características faciais dismórficas, tornando-se mais perceptíveis com a idade, atraso no crescimento e complicações de início tardio, como malignidades e infecções.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 82 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (PubMed:10888888, PubMed:15616588, PubMed:18411307, PubMed:18583988, PubMed:18678890, PubMed:19759395, PubMed:23115235, PubMed:28216226, PubMed:28867292, PubMed:9705271). The MRN complex is involved in the repair of DNA double-strand breaks (DSBs) via homologous recombination (HR), an error-free mechanism which primarily occurs during S an
NucleusChromosomeNucleus, PML bodyChromosome, telomere
Nijmegen breakage syndrome
A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies.
Variantes genéticas (ClinVar)
991 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 415 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
20 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de quebras de Nijmegen
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
G-quadruplex structures are key regulators of mammalian spermatogenesis.
Male infertility, impacting 8–12% of couples globally, often lacks clear etiology. G-quadruplexes (G4s), noncanonical DNA structures, are implicated in genomic regulation but remain underexplored in spermatogenesis. This study investigates G4 dynamics and their roles in male fertility. We employed antibody-based staining, cleavage under targets and tagmentation (CUT&Tag) sequencing, and a novel nanobody-based proximity labeling system (nanoG4BPL) to map G4 distribution and interacting proteins in mouse testicular cells. In vivo G4 stabilization with pyridostatin and clinical analysis of testicular tissues from patients with nonobstructive azoospermia (NOA) were conducted. G4 structures are enriched in testicular tissues, displaying stage-specific dynamics during spermatogonial differentiation, meiosis, and spermiogenesis. Genome-wide profiling revealed the dual roles of G4s in coordinating gene expression with active epigenetic marks and facilitating genome architecture via CTCF interactions. G4 stabilization disrupted double-strand break repair during meiosis, with nanoG4BPL identifying Nijmegen breakage syndrome 1 (NBS1) as a G4-interacting protein promoting phase separation for homologous recombination. Clinically, patients with NOA exhibited significantly elevated G4 levels in spermatocytes. G4 structures are critical regulators of spermatogenesis, orchestrating gene expression, chromatin remodeling, and meiotic fidelity. Their dysregulation, particularly in patients with NOA, suggests a mechanistic link to male infertility, providing novel insights into its pathogenesis and highlighting potential avenues for future diagnostic or therapeutic exploration. The online version contains supplementary material available at 10.1186/s11658-025-00839-y.
Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.
Human RAD50 gene mutations cause Nijmegen Breakage Syndrome-like disease, characterized by severe prenatal and postpartum growth retardation and microcephaly. It is very rare (less than 5 cases) with limited clinical data and treatment experience. Clinical information was collected on a boy with microcephaly and severe growth restriction, including birth history, clinical features, unplanned response to recombinant human growth hormone treatment, and five-year follow-up after growth hormone discontinuation. The child underwent trio-based whole-exome sequencing and Sanger sequencing to validate the mutation. Constructed variant plasmids were used for in vitro functional experiments and Western blots to evaluate the potential impact of the variants. The boy was born at full term, with substantial growth retardation from infancy to early childhood. At the age of 4.5 years, the child with syndromic short stature was prescribed recombinant human growth hormone for height correction by junior resident physicians, with no genetic evaluation performed prior to treatment. After 5 years and 9 months of recombinant human growth hormone treatment, genetic analysis was done due to his evident microcephaly and distinctive facial features. Two novel variants (p.His1269Argfs2 and p.Ser844Asn) were identified in the RAD50 gene. Western blotting revealed the presence of the Flag-tag and EGFP in RAD50-wt, but not in RAD50-mut (p.His1269Argfs2), indicating the frameshift mutation may markedly impair RAD50 protein expression or stability. Although recombinant human growth hormone significantly improved the patient's growth rate (from -3.35 SD to -1.28 SD), these variants may serve as a potential molecular basis for Nijmegen Breakage Syndrome-like disease and could also increase the risk of tumor formation. Treatment with recombinant human growth hormone was discontinued when the patient was 10 years and 3 months old. A five-year follow-up showed no evidence of a tumor was observed; The 15-year-old patient's height ceased to increase and remained at 151.5 cm. In the current study, we identified and characterized a patient with two RAD50 mutations. This report expands the clinical and genetic scope of RAD50 mutations. For the first time, it describes the response to unplanned recombinant human growth hormone therapy and the risk of long-term tumors. This report is intended to raise clinical awareness of the risk-benefit balance of recombinant human growth hormone therapy for syndromic short stature.
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.
Here, we present the results of a nationwide newborn screening (NBS) program in Russia, covering over 2.3 million newborns and employing TREC and KREC quantification to improve the identification of severe forms of T and/or B cell immunodeficiencies and enable early treatment initiation. A two-tier PCR testing strategy was used to define the screen-positive cohort, followed by confirmatory flow cytometry and genetic diagnostics, including fluorescent in situ hybridization (FISH) and whole-exome sequencing (WES). A total of 191 patients were diagnosed with defined forms of primary immunodeficiencies (PID), encompassing several groups of inborn errors of immunity (IEI): severe combined immunodeficiency (SCID), agammaglobulinemia, combined immunodeficiency less severe than SCID, and syndromic forms of PID. The overall birth prevalence of severe forms of T and/or B cell immunodeficiencies was 1 in 12,298 live births (95%CI: 1:10,672-1:14,247), corresponding to 8.13 cases per 100,000 newborns (95%CI: 7.02-9.37). Although the positive predictive value of KREC-based screening was relatively low, its use enabled the detection of a substantial proportion of patients with syndromic forms of PID, including Nijmegen breakage syndrome and ataxia-telangiectasia, along with various forms of agammaglobulinemia. Interestingly, 16% of diagnosed newborns had a positive family history, often with previously undiagnosed affected siblings or parents. Additionally, a considerable number of newborns detected by NBS presented with syndromic disorders not currently classified as IEI, suggesting potential avenues for future expansion of the IEI list. Importantly, early diagnosis through NBS allowed for the timely initiation of disease-specific treatments, including hematopoietic stem cell transplantation (HSCT), immunoglobulin replacement therapy, and targeted immunosuppressive or supportive care strategies. Early intervention may reduce the risk of severe infections, improve neurodevelopmental outcomes, and prevent irreversible organ damage or malignancies in predisposed syndromes. Overall, our study demonstrates the effectiveness of large-scale implementation of TREC/KREC-based NBS in identifying a broad spectrum of immunodeficiencies and highlights future directions for improving NBS algorithms, follow-up protocols, and individualized medical management for affected infants.
Malignancies in the context of Inborn errors of immunity: an immunologist's view.
Inborn errors of immunity (IEIs), also known as primary immunodeficiency diseases (PIDs) since 2017 Inborn Errors of Immunity Committee classification, comprise a heterogeneous group of genetic disorders resulting in impaired immune development and function. Malignancy is a major challenge in IEIs, particularly in those with defects in DNA repair, tumor suppression, immune surveillance, or chronic inflammatory control, highlighting the close interplay between immune dysfunction and oncogenesis. Hematologic malignancies, especially non-Hodgkin lymphomas, predominate in IEIs, though epithelial tumors also occur and present at younger ages with poorer outcomes. Both intrinsic factors - such as genomic instability and defective lymphocyte maturation - and extrinsic factors, including chronic inflammation, oncogenic viral infections, and iatrogenic exposures, contribute to cancer development. Subtypes such as ataxia-telangiectasia, Nijmegen breakage syndrome, Wiskott - Aldrich syndrome, and common variable immunodeficiency show particularly high malignancy rates. Defects in specific immune pathways, may predispose to organ-specific or virus-driven cancers. Although hematopoietic stem cell transplantation remains curative for selective IEIs, post-transplant malignancy risk persists. A deeper understanding of shared molecular pathways linking immunodeficiency and cancer is essential to refine early diagnosis, risk stratification, and targeted management in this vulnerable population.
Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.
Nijmegen breakage syndrome-like disorder (NBSLD) is a rare chromosomal instability syndrome caused by biallelic pathogenic variants in RAD50, which is a key component of the MRE11-RAD50-NBS1 (MRN) complex involved in DNA double-strand break repair. Merely few cases have been reported worldwide, and its phenotypic spectrum remains incompletely defined. We report a 6-year-old Chinese boy, who presented with bilateral cryptorchidism, severe microcephaly, growth retardation, multiple café-au-lait macules, brachydactyly, and distinctive craniofacial features, including a sloping forehead, midface prominence, and receding mandible. Mild intellectual impairment was confirmed on formal neurocognitive testing. The immunological assessment revealed borderline lymphopenia without overt immunodeficiency. Whole-exome sequencing (WES) identified compound heterozygosity for two variants in RAD50 (NM_005732.3): a paternally inherited frameshift variant c.2165_2166insT (p.Lys722Asnfs*6) and a maternally inherited splice-site variant c.3752 + 4_3752 + 7dup. The minigene splicing assay revealed that the latter disrupts normal splicing, leading to partial intron retention and a premature stop codon (p.Ile1252*). Based on the clinical features and molecular confirmation, the patient was diagnosed with NBSLD. Allogeneic hematopoietic stem cell transplantation (HSCT) has been proposed as a potential therapeutic option for DNA damage repair disorders. However, it is not presently required for this patient, who is managed with regular surveillance. The present case expands the clinical and mutational spectrum of RAD50-associated NBSLD. It emphasizes the importance of combining clinical assessment, genomic analysis, and functional assays for the accurate diagnosis of rare chromosomal breakage disorders.
Publicações recentes
Generation of NBS1 knockout in Chinese hamster cells revealed ATR role for radiation and etoposide induced DNA damage in absence of NBS1 proteins.
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.
📚 EuropePMC257 artigos no totalmostrando 185
Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.
Frontiers in endocrinologyFirst 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.
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Plant physiology and biochemistry : PPBImpaired p53-Mediated DNA Damage Response Contributes to Microcephaly in Nijmegen Breakage Syndrome Patient-Derived Cerebral Organoids.
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Frontiers in aging neuroscienceAn in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.
Journal of biomolecular structure & dynamicsGSTpi reduces DNA damage and cell death by regulating the ubiquitination and nuclear translocation of NBS1.
Cellular and molecular life sciences : CMLSBilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism.
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American journal of hematologyProtein Arginine Methyltransferase 1 Is Essential for the Meiosis of Male Germ Cells.
International journal of molecular sciencesMRN Complex and Cancer Risk: Old Bottles, New Wine.
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Frontiers in immunologyImpairment of sirtuin 1-mediated DNA repair is involved in bisphenol A-induced aggravation of macrophage inflammation and atherosclerosis.
ChemosphereDNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.
Frontiers in pediatricsNewborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.
Frontiers in immunologyHematopoietic Stem Cell Transplantation Positively Affects the Natural History of Cancer in Nijmegen Breakage Syndrome.
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Journal of photochemistry and photobiology. B, BiologyNBS1 interacts with Notch signaling in neuronal homeostasis.
Nucleic acids researchHepatitis B virus preS2Δ38-55 variants: A newly identified risk factor for hepatocellular carcinoma.
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Molecular cytogeneticsT Lymphocytes in Patients With Nijmegen Breakage Syndrome Demonstrate Features of Exhaustion and Senescence in Flow Cytometric Evaluation of Maturation Pathway.
Frontiers in immunologyA Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.
CellsUpdate on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency.
Current allergy and asthma reportsTreosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.
Journal of clinical immunologyTelomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.
AgingNijmegen breakage syndrome: case report and review of literature.
The Pan African medical journalEvaluation of awareness about primary immunodeficiencies among physicians before and after implementation of the educational program: A longitudinal study.
PloS oneAssociation of Nijmegen Breakage Syndrome 1 Genotypes With Bladder Cancer Risk.
Anticancer researchHuman RAD50 deficiency: Confirmation of a distinctive phenotype.
American journal of medical genetics. Part AModeling cancer genomic data in yeast reveals selection against ATM function during tumorigenesis.
PLoS geneticsChromothripsis and DNA Repair Disorders.
Journal of clinical medicineHematopoietic Stem Cell Transplantation for DNA Double Strand Breakage Repair Disorders.
Frontiers in pediatricsNBS1 is required for SPO11-linked DNA double-strand break repair in male meiosis.
Cell death and differentiationNijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia.
Central-European journal of immunologyComplex profile of multiple hepatobiliary and gastrointestinal complications after hematopoietic stem cell transplantation in a child with Nijmegen breakage syndrome.
Central-European journal of immunologyNBS1 interacts with HP1 to ensure genome integrity.
Cell death & diseaseThe Replisome Mediates A-NHEJ Repair of Telomeres Lacking POT1-TPP1 Independently of MRN Function.
Cell reportsChromosome Instability and Mosaic Aneuploidy in Neurodegenerative and Neurodevelopmental Disorders.
Frontiers in geneticsDNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.
Human mutationE2F1 acetylation directs p300/CBP-mediated histone acetylation at DNA double-strand breaks to facilitate repair.
Nature communicationsAntioxidant Defense, Redox Homeostasis, and Oxidative Damage in Children With Ataxia Telangiectasia and Nijmegen Breakage Syndrome.
Frontiers in immunologyChromosome instability syndromes.
Nature reviews. Disease primersNbn-Mre11 interaction is required for tumor suppression and genomic integrity.
Proceedings of the National Academy of Sciences of the United States of AmericaAttenuating the DNA damage response to double-strand breaks restores function in models of CNS neurodegeneration.
Brain communicationsA case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management.
Gynecological endocrinology : the official journal of the International Society of Gynecological EndocrinologyTwo 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.
Annals of human geneticsNon-Hodgkin Lymphoma Secondary to Hodgkin Lymphoma in an Adult Patient With Nijmegen Breakage Syndrome.
HemaSphereAssociation of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.
Technology in cancer research & treatmentFibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.
Stem cell researchRubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Journal of clinical immunologyNijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas.
PediatricsCase 1: Microcephaly, Skeletal Dysplasia, and Immunodeficiency in a Newborn.
Pediatrics in reviewPoly(ADP-ribose) polymerase-1 promotes recruitment of meiotic recombination-11 to chromatin and DNA double-strand break repair in Ku70-deficient breast cancer cells.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyThe Major Tegument Protein of Bovine Herpesvirus 1, VP8, Interacts with DNA Damage Response Proteins and Induces Apoptosis.
Journal of virologyThe MRE11-RAD50-NBS1 Complex Conducts the Orchestration of Damage Signaling and Outcomes to Stress in DNA Replication and Repair.
Annual review of biochemistryIdentification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice.
European journal of human genetics : EJHGInterdependent and separable functions of Caenorhabditis elegans MRN-C complex members couple formation and repair of meiotic DSBs.
Proceedings of the National Academy of Sciences of the United States of AmericaGenetic testing for hereditary prostate cancer: Current status and limitations.
CancerComparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.
Oxidative medicine and cellular longevityEvidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
Molecular cytogeneticsNBS1 rs2735383 polymorphism is associated with an increased risk of laryngeal carcinoma.
BMC cancerA non-synonymous polymorphism in NBS1 is associated with progression from chronic hepatitis B virus infection to hepatocellular carcinoma in a Chinese population.
OncoTargets and therapyInactivation of ribosomal protein S27-like confers radiosensitivity via the Mdm2-p53 and Mdm2-MRN-ATM axes.
Cell death & diseaseDamage-induced lncRNAs control the DNA damage response through interaction with DDRNAs at individual double-strand breaks.
Nature cell biologyReversible Hypogammaglobulinemia in 2 Pediatric Patients With Primary Immunodeficiency.
Journal of investigational allergology & clinical immunologyCTCF prevents genomic instability by promoting homologous recombination-directed DNA double-strand break repair.
Proceedings of the National Academy of Sciences of the United States of AmericaClinical Report: Warsaw Breakage Syndrome with small radii and fibulae.
American journal of medical genetics. Part AMRE11 Promotes Tumorigenesis by Facilitating Resistance to Oncogene-Induced Replication Stress.
Cancer researchProspective 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).
Frontiers in immunologyNijmegen Breakage Syndrome fibroblasts and iPSCs: cellular models for uncovering disease-associated signaling pathways and establishing a screening platform for anti-oxidants.
Scientific reportsEffects of Pulsed Electromagnetic Fields on Breast Cancer Cell Line MCF 7 Using Absorption Spectroscopy.
Anticancer researchHsp90α regulates ATM and NBN functions in sensing and repair of DNA double-strand breaks.
The FEBS journalRecommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Clinical cancer research : an official journal of the American Association for Cancer ResearchDNA Damage Response in Human Stem Cells and Neural Descendants.
Methods in molecular biology (Clifton, N.J.)Contribution of Double-strand Break Repair Gene Nijmegen Breakage Syndrome 1 Genotypes, Gender Difference and Smoking Status to Taiwanese Lung Cancer.
Anticancer researchParkin regulates translesion DNA synthesis in response to UV radiation.
OncotargetOutcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
The Journal of allergy and clinical immunologyNBS1 is regulated by two kind of mechanisms: ATM-dependent complex formation with MRE11 and RAD50, and cell cycle-dependent degradation of protein.
Journal of radiation researchStimulation of lactate receptor (HCAR1) affects cellular DNA repair capacity.
DNA repairNBS1 Phosphorylation Status Dictates Repair Choice of Dysfunctional Telomeres.
Molecular cellCase 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.
BMC cancerAn Approach to Elucidate NBS1 Function in DNA Repair Using Frequent Nonsynonymous Polymorphism in Wild Medaka (Oryzias latipes) Populations.
PloS oneThe Mre11-Nbs1 Interface Is Essential for Viability and Tumor Suppression.
Cell reportsOxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.
Redox biologyCirculating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence.
Journal of clinical immunologyThe Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
PloS oneIdentification 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.
Familial cancerHigh Expression of MRE11-RAD50-NBS1 Is Associated with Poor Prognosis and Chemoresistance in Gastric Cancer.
Anticancer researchT-lymphoblastic leukemia/lymphoma in macedonian patients with Nijmegen breakage syndrome.
Balkan journal of medical genetics : BJMGChromosomal Instability and Molecular Defects in Induced Pluripotent Stem Cells from Nijmegen Breakage Syndrome Patients.
Cell reportsNon-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents.
HaematologicaNBS1 and multiple regulations of DNA damage response.
Journal of radiation researchEpidermal Nbn deletion causes premature hair loss and a phenotype resembling psoriasiform dermatitis.
OncotargetThe MRX Complex Ensures NHEJ Fidelity through Multiple Pathways Including Xrs2-FHA-Dependent Tel1 Activation.
PLoS geneticsGeneration of iPSC lines from a Nijmegen Breakage Syndrome patient.
Stem cell researchSevere mitochondrial damage associated with low-dose radiation sensitivity in ATM- and NBS1-deficient cells.
Cell cycle (Georgetown, Tex.)Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome.
European journal of medical geneticsPreexisting conditions in pediatric ALL patients: Spectrum, frequency and clinical impact.
European journal of medical geneticsDeletion of NAD(P)H:quinone oxidoreductase 1 represses Mre11-Rad50-Nbs1 complex protein expression in cisplatin-induced nephrotoxicity.
Toxicology lettersβ-Lapachone enhances Mre11-Rad50-Nbs1 complex expression in cisplatin-induced nephrotoxicity.
Pharmacological reports : PRDNA Repair Cofactors ATMIN and NBS1 Are Required to Suppress T Cell Activation.
PLoS geneticsDefining ATM-Independent Functions of the Mre11 Complex with a Novel Mouse Model.
Molecular cancer research : MCROGT mediated histone H2B S112 GlcNAcylation regulates DNA damage response.
Journal of genetics and genomics = Yi chuan xue baoNBS1 is required for macrophage homeostasis and functional activity in mice.
BloodFunctional Role of NBS1 in Radiation Damage Response and Translesion DNA Synthesis.
BiomoleculesNijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
Journal of clinical immunologyDirected Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application.
Molecular therapy : the journal of the American Society of Gene TherapyNbs1 ChIP-Seq Identifies Off-Target DNA Double-Strand Breaks Induced by AID in Activated Splenic B Cells.
PLoS geneticsMCM8-9 complex promotes resection of double-strand break ends by MRE11-RAD50-NBS1 complex.
Nature communicationsEXO1 is critical for embryogenesis and the DNA damage response in mice with a hypomorphic Nbs1 allele.
Nucleic acids researchNijmegen breakage syndrome protein 1 (NBS1) modulates hypoxia inducible factor-1α (HIF-1α) stability and promotes in vitro migration and invasion under ionizing radiation.
The international journal of biochemistry & cell biologyRepair versus Checkpoint Functions of BRCA1 Are Differentially Regulated by Site of Chromatin Binding.
Cancer researchHepatitis B virus pre-S2 mutant large surface protein inhibits DNA double-strand break repair and leads to genome instability in hepatocarcinogenesis.
The Journal of pathologyIdentification and characterization of a novel gene encoding the NBS1 protein in Pyricularia oryzae.
Bioscience, biotechnology, and biochemistryDeficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo.
Mutation researchThe ATM signaling cascade promotes recombination-dependent pachytene arrest in mouse spermatocytes.
PLoS geneticsStemness factor Sall4 is required for DNA damage response in embryonic stem cells.
The Journal of cell biology[Smart choice between two DNA double-strand break repair mechanisms].
Igaku butsuri : Nihon Igaku Butsuri Gakkai kikanshi = Japanese journal of medical physics : an official journal of Japan Society of Medical PhysicsNijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs).
Journal of clinical immunologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- G-quadruplex structures are key regulators of mammalian spermatogenesis.
- 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.
- Generation of NBS1 knockout in Chinese hamster cells revealed ATR role for radiation and etoposide induced DNA damage in absence of NBS1 proteins.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:647(Orphanet)
- OMIM OMIM:251260(OMIM)
- MONDO:0009623(MONDO)
- GARD:3904(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1250362(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
