(Q37939634)

25 August 2017

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title

Haploinsufficiency in mouse models of DNA repair deficiency: modifiers of penetrance (English)

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25 August 2017

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Diane C Cabelof

1

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25 August 2017

28 September 2011

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Cellular and Molecular Life Sciences

25 August 2017

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25 August 2017

69

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25 August 2017

5

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25 August 2017

727-740

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https://scigraph.springernature.com/pub.10.1007/s00018-011-0839-7

25 August 2017

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cites work

Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging

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https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Clinical implications of the basic defects in Cockayne syndrome and xeroderma pigmentosum and the DNA lesions responsible for cancer, neurodegeneration and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Using mouse models to investigate the biological and physiological consequences of defects in the Fanconi anaemia/breast cancer DNA repair signalling pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

A copy number variation morbidity map of developmental delay

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

DNA damage response as an anti-cancer barrier: damage threshold and the concept of 'conditional haploinsufficiency'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Repair and genetic consequences of endogenous DNA base damage in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Accumulation of premutagenic DNA lesions in mice defective in removal of oxidative base damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Haploinsufficiency of poly(ADP-ribose) polymerase-1-mediated poly(ADP-ribosyl)ation for centrosome duplication.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Mutagenesis is elevated in male germ cells obtained from DNA polymerase-beta heterozygous mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

DNA polymerase beta is critical for genomic stability of sperm cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Imbalanced base excision repair in response to folate deficiency is accelerated by polymerase beta haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Folate deficiency provides protection against colon carcinogenesis in DNA polymerase beta haploinsufficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Haploinsufficiency in DNA polymerase beta increases cancer risk with age and alters mortality rate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Ku80 deletion suppresses spontaneous tumors and induces a p53-mediated DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Spontaneous mutagenesis is enhanced in Apex heterozygous mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Folate deficiency regulates expression of DNA polymerase β in response to oxidative stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Mouse models of XRCC1 DNA repair polymorphisms and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Aag-initiated base excision repair drives alkylation-induced retinal degeneration in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Novel nuclear and mitochondrial glycosylases revealed by disruption of the mouse Nth1 gene encoding an endonuclease III homolog for repair of thymine glycols

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Targeted deletion of mNth1 reveals a novel DNA repair enzyme activity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Requirement of mammalian DNA polymerase-beta in base-excision repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Requirement for the Xrcc1 DNA base excision repair gene during early mouse development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Rescue of Xrcc1 knockout mouse embryo lethality by transgene-complementation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Base excision repair deficient mice lacking the Aag alkyladenine DNA glycosylase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

How nucleotide excision repair protects against cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Characterization of defective nucleotide excision repair in XPC mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

XPC is involved in genome maintenance through multiple pathways in different tissues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

DNA repair and tumorigenesis: lessons from hereditary cancer syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Mechanisms in eukaryotic mismatch repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Meiotic pachytene arrest in MLH1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Roles of MGMT and MLH1 proteins in alkylation-induced apoptosis and mutagenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Mutation in the mismatch repair gene Msh6 causes cancer susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Collaboration and competition between DNA double-strand break repair pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Rad21-cohesin haploinsufficiency impedes DNA repair and enhances gastrointestinal radiosensitivity in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Xrcc2 modulates spontaneous and radiation-induced tumorigenesis in Apcmin/+ mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Growth retardation and leaky SCID phenotype of Ku70-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Ku70 is required for DNA repair but not for T cell antigen receptor gene recombination In vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Mice lacking Alkbh1 display sex-ratio distortion and unilateral eye defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Repair deficient mice reveal mABH2 as the primary oxidative demethylase for repairing 1meA and 3meC lesions in DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Brca1 controls homology-directed DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

BRCA2 is required for homology-directed repair of chromosomal breaks

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Heterogenic loss of the wild-type BRCA allele in human breast tumorigenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Inactivation of the mouse Brca1 gene leads to failure in the morphogenesis of the egg cylinder in early postimplantation development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Brca2 is required for embryonic cellular proliferation in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Brca1 heterozygous mice have shortened life span and are prone to ovarian tumorigenesis with haploinsufficiency upon ionizing irradiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Involvement of Brca2 in DNA repair

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Increased rates of spontaneous sister chromatid exchange in lymphocytes of BRCA2+/- carriers of familial breast cancer clusters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Expanded roles of the Fanconi anemia pathway in preserving genomic stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Inactivation of Palb2 gene leads to mesoderm differentiation defect and early embryonic lethality in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Beyond ATM: the protein kinase landscape of the DNA damage response

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

A deletion within the murine Werner syndrome helicase induces sensitivity to inhibitors of topoisomerase and loss of cellular proliferative capacity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

ATR functions as a gene dosage-dependent tumor suppressor on a mismatch repair-deficient background

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Hemizygosity for Atm and Brca1 influence the balance between cell transformation and apoptosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0839-7

Heterozygosity for the mouse Apex gene results in phenotypes associated with oxidative stress.

21 January 2018

1 reference

12 December 2020

Passing the baton in base excision repair

1 reference

12 December 2020

Mouse models for hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Targeted disruption of the DNA repair methyltransferase gene renders mice hypersensitive to alkylating agent

1 reference

12 December 2020

Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity

1 reference

12 December 2020

Base excision repair deficiency caused by polymerase beta haploinsufficiency: accelerated DNA damage and increased mutational response to carcinogens

1 reference

12 December 2020

Genetic interaction between HAP1/REF-1 and p53

1 reference

12 December 2020

Tumorigenesis in Mlh1 and Mlh1/Apc1638N mutant mice

1 reference

12 December 2020

DNA repair methyltransferase (Mgmt) knockout mice are sensitive to the lethal effects of chemotherapeutic alkylating agents

1 reference

12 December 2020

Ultraviolet B radiation-induced skin cancer in mice defective in the Xpc, Trp53, and Apex (HAP1) genes: genotype-specific effects on cancer predisposition and pathology of tumors

1 reference

12 December 2020

Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice

1 reference

12 December 2020

XRCC1 haploinsufficiency in mice has little effect on aging, but adversely modifies exposure-dependent susceptibility

1 reference

12 December 2020

ATR disruption leads to chromosomal fragmentation and early embryonic lethality

1 reference

12 December 2020

Mammalian nucleotide excision repair proteins and interstrand crosslink repair

1 reference

12 December 2020

A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination

1 reference

12 December 2020

10.1007/S00018-011-0839-7

Identifiers

DOI

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25 August 2017

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PubMed ID

21952828