about
Connecting Malfunctioning Glial Cells and Brain Degenerative DisordersFunctional Role of NBS1 in Radiation Damage Response and Translesion DNA SynthesisCohesinopathies of a feather flock togetherSystemic DNA damage responses in aging and diseasesInter-individual variation in DNA repair capacity: a need for multi-pathway functional assays to promote translational DNA repair researchPrenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and SyndactylyRelevance of LIG4 gene polymorphisms with cancer susceptibility: evidence from a meta-analysisA narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4Nijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)The role of nibrin in doxorubicin-induced apoptosis and cell senescence in Nijmegen Breakage Syndrome patients lymphocytesIdentification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.L- and D-lactate enhance DNA repair and modulate the resistance of cervical carcinoma cells to anticancer drugs via histone deacetylase inhibition and hydroxycarboxylic acid receptor 1 activationThe Slavic NBN Founder Mutation: A Role for Reproductive Fitness?Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical ApplicationSyndrome-Associated Tumors by Organ System.Genetic predispositions to childhood leukemia.The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.Epidermal Nbn deletion causes premature hair loss and a phenotype resembling psoriasiform dermatitis.Nijmegen breakage syndrome and chronic polyarthritis.NBN Gene Polymorphisms and Cancer Susceptibility: A Systemic Review.Protein methylation and interaction with the antiproliferative gene, BTG2/TIS21/Pc3.Health-related quality of life, anxiety, and depressive symptoms in children with primary immunodeficiencies.DNA damage response defect in Williams-Beuren syndrome.Regulation of chromatin structure via histone post-translational modification and the link to carcinogenesis.Human DNA ligases: a comprehensive new look for cancer therapy.Mechanisms and clinical applications of chromosomal instability in lymphoid malignancy.Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome.Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.Recent advances in the study of immunodeficiency and DNA damage response.Mechanisms of DNA-protein crosslink repair.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).Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine).The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress.A MYCN-MRN complex axis controls replication stress for the safe expansion of neuroprogenitor cells.Reduced-intensity conditioning umbilical cord blood transplantation in Nijmegen breakage syndrome.DNA Damage as a Driver for Growth Delay: Chromosome Instability Syndromes with Intrauterine Growth Retardation.Genome integrity and disease prevention in the nervous system.DNA damage, metabolism and aging in pro-inflammatory T cells: Rheumatoid arthritis as a model system.A case of contralateral breast cancer and skin cancer associated with NBN heterozygous pathogenic variant c.698_701delAACA.Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Nijmegen breakage syndrome (NBS)
@ast
Nijmegen breakage syndrome (NBS)
@en
Nijmegen breakage syndrome (NBS)
@en-gb
Nijmegen breakage syndrome (NBS)
@nl
type
label
Nijmegen breakage syndrome (NBS)
@ast
Nijmegen breakage syndrome (NBS)
@en
Nijmegen breakage syndrome (NBS)
@en-gb
Nijmegen breakage syndrome (NBS)
@nl
prefLabel
Nijmegen breakage syndrome (NBS)
@ast
Nijmegen breakage syndrome (NBS)
@en
Nijmegen breakage syndrome (NBS)
@en-gb
Nijmegen breakage syndrome (NBS)
@nl
P2093
P2860
P3181
P356
P1476
Nijmegen breakage syndrome (NBS)
@en
P2093
Hanna Gregorek
Krystyna H Chrzanowska
Maria A Kalina
Martin Digweed
P2860
P2888
P3181
P356
10.1186/1750-1172-7-13
P407
P5008
P577
2012-02-28T00:00:00Z
P5875
P6179
1033146789