(Q36617706)

15 August 2017

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title

Ataxia-telangiectasia and related diseases (English)

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15 August 2017

Pierre-Olivier Frappart

object named as

Pierre-Olivier Frappart

series ordinal

1

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author name string

Peter J McKinnon

series ordinal

2

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PubMed ID

17028372

15 August 2017

language of work or name

English

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publication date

1 January 2006

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15 August 2017

NeuroMolecular Medicine

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15 August 2017

8

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15 August 2017

4

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15 August 2017

495-511

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https://scigraph.springernature.com/pub.10.1385/nmm:8:4:495

15 August 2017

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cites work

Nijmegen breakage syndrome

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12 December 2020

Ataxia telangiectasia mutated deficiency affects astrocyte growth but not radiosensitivity.

1 reference

12 December 2020

Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer.

1 reference

12 December 2020

Abnormal white matter signal in ataxia telangiectasia

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12 December 2020

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma

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12 December 2020

Partners and pathwaysrepairing a double-strand break.

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12 December 2020

Oropharyngeal dysphagia and aspiration in patients with ataxia-telangiectasia

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12 December 2020

Human MRE11 is inactivated in mismatch repair-deficient cancers

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12 December 2020

Ataxia-telangiectasia: MR and CT findings

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12 December 2020

The cells and molecules that make a cerebellum.

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12 December 2020

Role of DNA-PK in the cellular response to DNA double-strand breaks

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12 December 2020

Ataxia-teleangectasia: neurophysiological studies in 8 patients

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12 December 2020

Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice

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12 December 2020

Cell-cycle checkpoints and cancer

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12 December 2020

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks

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12 December 2020

The cellular response to general and programmed DNA double strand breaks

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12 December 2020

Defective neurogenesis resulting from DNA ligase IV deficiency requires Atm

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12 December 2020

A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis

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12 December 2020

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12 December 2020

Slow target-directed eye movements in ataxia-telangiectasia.

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12 December 2020

The pathogenesis of ataxia-telangiectasia. Learning from a Rosetta Stone

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12 December 2020

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis

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12 December 2020

Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations

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12 December 2020

Early events in the DNA damage response

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12 December 2020

Determination of the frequency of the common 657Del5 Nijmegen breakage syndrome mutation in the German population: no association with risk of breast cancer

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12 December 2020

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

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12 December 2020

Histone H2AX in DNA damage and repair.

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12 December 2020

Microcephalin Is a DNA Damage Response Protein Involved in Regulation of CHK1 and BRCA1

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12 December 2020

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

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12 December 2020

Correspondence re: R. Varon et al., Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia. Cancer Res., 61: 3570-3572, 2001

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12 December 2020

Cerebellar cortex ultrastructure in ataxia-telangiectasia

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12 December 2020

Genetic interactions between ATM and the nonhomologous end-joining factors in genomic stability and development

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12 December 2020

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls

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12 December 2020

Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex

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12 December 2020

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

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12 December 2020

Sequence of cellular events in cerebellar ontogeny relevant to expression of neuronal abnormalities in ataxia-telangiectasia.

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12 December 2020

Abnormalities in sensory and mixed evoked potentials in ataxia-telangiectasia

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12 December 2020

Ocular manifestations of ataxia-telangiectasia

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12 December 2020

Cranial MRI in the Nijmegen breakage syndrome

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12 December 2020

The Rad50 zinc-hook is a structure joining Mre11 complexes in DNA recombination and repair

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12 December 2020

The DNA double-strand break response in the nervous system

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12 December 2020

Absence of mutations in the NBS1 gene in B-cell malignant lymphoma patients

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12 December 2020

Mechanisms of neural patterning and specification in the developing cerebellum

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12 December 2020

Interplay of p53 and DNA-repair protein XRCC4 in tumorigenesis, genomic stability and development

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12 December 2020

Pleiotropic defects in ataxia-telangiectasia protein-deficient mice

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12 December 2020

Cranial MRI in ataxia-telangiectasia

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12 December 2020

Chromosomal stability and the DNA double-stranded break connection

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12 December 2020

Cerebellar pathology in ataxia-telangiectasia: the significance of basket cells.

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12 December 2020

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

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12 December 2020

Mechanism and regulation of human non-homologous DNA end-joining

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12 December 2020

Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells

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12 December 2020

No evidence for deletions of the NBS1 gene in lymphomas

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12 December 2020

ATM haplotypes and cellular response to DNA damage: association with breast cancer risk and clinical radiosensitivity

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12 December 2020

DNA damage-induced association of ATM with its target proteins requires a protein interaction domain in the N terminus of ATM.

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12 December 2020

Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart

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12 December 2020

Analysis of ku80-mutant mice and cells with deficient levels of p53

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12 December 2020

Contributions of ATM mutations to familial breast and ovarian cancer.

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12 December 2020

Cancer in xeroderma pigmentosum and related disorders of DNA repair

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12 December 2020

Mutations in the p53 and SCID genes cooperate in tumorigenesis.

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12 December 2020

Peripheral nerve involvement in ataxia telangiectasia: histological and ultrastructural studies of peroneal nerve biopsy in two cases

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12 December 2020

Regulation and mechanisms of mammalian double-strand break repair

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12 December 2020

The Mre11 complex: at the crossroads of dna repair and checkpoint signalling

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12 December 2020

Failed clearance of aneuploid embryonic neural progenitor cells leads to excess aneuploidy in the Atm-deficient but not the Trp53-deficient adult cerebral cortex.

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12 December 2020

hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay

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12 December 2020

V(D)J recombination activates a p53-dependent DNA damage checkpoint in scid lymphocyte precursors.

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12 December 2020

Is the sensory neuropathy in ataxia-telangiectasia distinguishable from that in Friedreich's ataxia? Morphometric and ultrastructural study of the sural nerve in a case of Louis Bar syndrome

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12 December 2020

The cellular response to DNA double-strand breaks: defining the sensors and mediators

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12 December 2020

Promotion of Dnl4-catalyzed DNA end-joining by the Rad50/Mre11/Xrs2 and Hdf1/Hdf2 complexes

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12 December 2020

Medulloblastoma with adverse reaction to radiation therapy in nijmegen breakage syndrome

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12 December 2020

Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia.

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12 December 2020

Progressive peripheral neuron degeneration in ataxia-telangiectasia: an electrophysiological study in children

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12 December 2020

Alterations of the double-strand break repair gene MRE11 in cancer

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12 December 2020

The ATRs, ATMs, and TORs are giant HEAT repeat proteins.

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12 December 2020

Requirement of the MRN complex for ATM activation by DNA damage

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12 December 2020

Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage

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12 December 2020

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models

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12 December 2020

Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice

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12 December 2020

Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice

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12 December 2020

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12 December 2020

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder

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12 December 2020

The MRN complex: coordinating and mediating the response to broken chromosomes

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12 December 2020

Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome

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12 December 2020

Targeted disruption of NBS1 reveals its roles in mouse development and DNA repair

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12 December 2020

Requirement for Atm in ionizing radiation-induced cell death in the developing central nervous system

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12 December 2020

The Rad50 hook domain is a critical determinant of Mre11 complex functions

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12 December 2020

Ataxia telangiectasia mutated-dependent apoptosis after genotoxic stress in the developing nervous system is determined by cellular differentiation status.

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12 December 2020

Ku recruits the XRCC4-ligase IV complex to DNA ends

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12 December 2020

Radiation-induced apoptosis in developing mouse retina exhibits dose-dependent requirement for ATM phosphorylation of p53.

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12 December 2020

Nijmegen breakage syndrome gene (NBS1) is not the tumor suppressor gene at 8q21.3 involved in colorectal carcinoma.

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12 December 2020

A murine model of Nijmegen breakage syndrome

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12 December 2020

ATM and ataxia telangiectasia

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12 December 2020

Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma

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12 December 2020

The Mre11 complex is required for ATM activation and the G2/M checkpoint

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12 December 2020

A role for the Tip60 histone acetyltransferase in the acetylation and activation of ATM

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12 December 2020

A nanomachine for making ends meet: MRN is a flexing scaffold for the repair of DNA double-strand breaks.

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12 December 2020

Drug treatment in the development of mismatch repair defective acute leukemia and myelodysplastic syndrome.

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12 December 2020

ATM gene and lymphoid malignancies

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12 December 2020

[Microcephaly with chromosomal instability and immunodeficiency--Nijmegen syndrome]

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12 December 2020

BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly

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12 December 2020

Mesoscale conformational changes in the DNA-repair complex Rad50/Mre11/Nbs1 upon binding DNA

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12 December 2020

Ataxia telangiectasia mutated is essential during adult neurogenesis

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12 December 2020

Analysis of the ATM protein in wild-type and ataxia telangiectasia cells

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12 December 2020

Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesis

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12 December 2020

Immunodeficiency and infections in ataxia-telangiectasia.

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12 December 2020

Cell-cell interactions influence survival and differentiation of purified Purkinje cells in vitro.

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12 December 2020

Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI

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12 December 2020

Repair of DNA double strand breaks by non-homologous end joining

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12 December 2020

An essential function for NBS1 in the prevention of ataxia and cerebellar defects

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12 December 2020

An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele

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12 December 2020

Molecular pathology of ataxia telangiectasia

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12 December 2020

Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice.

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12 December 2020

Phosphorylation of SMC1 is a critical downstream event in the ATM-NBS1-BRCA1 pathway

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12 December 2020

DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway

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12 December 2020

Atm-deficient mice: a paradigm of ataxia telangiectasia

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12 December 2020

DNA ligase IV suppresses medulloblastoma formation.

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12 December 2020

Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.

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12 December 2020

Variants of Nijmegen breakage syndrome and ataxia telangiectasia.

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12 December 2020

A new chromosomal instability disorder: the Nijmegen breakage syndrome

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12 December 2020

NBS1 is a prostate cancer susceptibility gene.

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12 December 2020

Molecular views of recombination proteins and their control

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12 December 2020

No evidence for a major role of heterozygous deletion 657del5 within the NBS1 gene in the pathogenesis of non-Hodgkin's lymphoma of childhood and adolescence

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12 December 2020

Nbs1 is essential for DNA repair by homologous recombination in higher vertebrate cells

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12 December 2020

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

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12 December 2020

DNA single-strand breaks and neurodegeneration

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12 December 2020

Distinct spatiotemporal dynamics of mammalian checkpoint regulators induced by DNA damage

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12 December 2020

DNA damage tumor suppressor genes and genomic instability

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12 December 2020

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

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12 December 2020

Ataxia-telangiectasia, an evolving phenotype

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12 December 2020

ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1.

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12 December 2020

Genome maintenance mechanisms for preventing cancer

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12 December 2020

Identifiers

DOI

10.1385/NMM:8:4:495

1 reference

PubMed ID

17028372

Dimensions Publication ID

15 August 2017

0 references

1 reference

PubMed ID

17028372