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

scientific article published on 12 August 2015

Directed Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/MT.2015.144
P932PMC publication ID4754538
P698PubMed publication ID26265251

P2093author name stringAndré Nussenzweig
Karl Sperling
Martin Digweed
Susanne Rothe
Bastian Salewsky
Harald Krenzlin
Petra Wessendorf
Kerstin Borgmann
Janina Radszewski
Gabriele Hildebrand
Ann Christin Parplys
Moritz Kieslich
P2860cites workNijmegen breakage syndrome (NBS)Q21202860
Mre11 complex and DNA replication: linkage to E2F and sites of DNA synthesisQ24291532
NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domainQ24316234
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndromeQ24316811
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage responseQ24316950
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept studyQ24643018
Cancer etiology. Variation in cancer risk among tissues can be explained by the number of stem cell divisionsQ26261171
Nbs1 Flexibly Tethers Ctp1 and Mre11-Rad50 to Coordinate DNA Double-Strand Break Processing and RepairQ27657670
Nbn heterozygosity renders mice susceptible to tumor formation and ionizing radiation-induced tumorigenesisQ28594255
ESEfinder: A web resource to identify exonic splicing enhancersQ29616126
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancersQ33249150
Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides.Q33868227
Vivo-Morpholinos: a non-peptide transporter delivers Morpholinos into a wide array of mouse tissuesQ34016276
Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse modelsQ34427548
Active role for nibrin in the kinetics of atm activationQ34519762
Chk1 requirement for high global rates of replication fork progression during normal vertebrate S phaseQ34563205
Efficient in vivo manipulation of alternative pre-mRNA splicing events using antisense morpholinos in miceQ34675818
Factor XI antisense oligonucleotide for prevention of venous thrombosisQ35200286
Constitutive phosphorylation of MDC1 physically links the MRE11-RAD50-NBS1 complex to damaged chromatinQ36562899
Heterozygous mutations in PALB2 cause DNA replication and damage response defectsQ37305285
Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseasesQ38184276
The essential function of the MRN complex in the resolution of endogenous replication intermediates.Q39037557
Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specificQ39185633
DNA damage by X-rays and their impact on replication processes.Q39653518
Replication fork movement sets chromatin loop size and origin choice in mammalian cellsQ39948771
Dormant origins licensed by excess Mcm2-7 are required for human cells to survive replicative stress.Q40035632
An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome alleleQ40816086
SV40 T antigen interacts with Nbs1 to disrupt DNA replication control.Q40903834
Induction of exon skipping of the dystrophin transcript in lymphoblastoid cells by transfecting an antisense oligodeoxynucleotide complementary to an exon recognition sequenceQ41168085
Mild Nijmegen breakage syndrome phenotype due to alternative splicingQ41919921
A new chromosome instability disorder.Q41933219
Deficiency of the DNA repair protein nibrin increases the basal but not the radiation induced mutation frequency in vivo.Q42474228
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndromeQ44452386
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 studyQ45033314
Eteplirsen for the treatment of Duchenne muscular dystrophyQ45855674
Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice.Q52542455
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.Q52943096
The "rescue" of dystrophin synthesis in boys with Duchenne muscular dystrophyQ72427693
Chromosome instability and nibrin protein variants in NBS heterozygotesQ73302618
Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS)Q79662700
Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage SyndromeQ84300269
P4510describes a project that usesImageJQ1659584
P433issue1
P921main subjectNijmegen breakage syndromeQ1250362
alternative mRNA splicing, via spliceosomeQ21114084
P304page(s)117-124
P577publication date2015-08-12
P1433published inMolecular TherapyQ15762400
P1476titleDirected Alternative Splicing in Nijmegen Breakage Syndrome: Proof of Principle Concerning Its Therapeutical Application
P478volume24

Reverse relations

cites work (P2860)
Q94315310Chromosome instability syndromes.
Q35986769NBS1 and multiple regulations of DNA damage response
Q37211004Splice-switching antisense oligonucleotides as therapeutic drugs

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