p53 polymorphisms: cancer implications (Q37376012)

20 August 2017

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title

p53 polymorphisms: cancer implications (English)

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20 August 2017

2

Paul D P Pharoah

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20 August 2017

Catherine Whibley

1

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PubMed ID

19165225

20 August 2017

Monica Hollstein

series ordinal

3

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PubMed ID

19165225

20 August 2017

language of work or name

English

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publication date

1 February 2009

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20 August 2017

Nature Reviews Cancer

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20 August 2017

9

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20 August 2017

95-107

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20 August 2017

2

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https://scigraph.springernature.com/pub.10.1038/nrc2584

20 August 2017

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cites work

Surfing the p53 network

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p53 in health and disease

21 January 2018

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Cancer genes and the pathways they control

21 January 2018

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In vivo mitochondrial p53 translocation triggers a rapid first wave of cell death in response to DNA damage that can precede p53 target gene activation

21 January 2018

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Death signal-induced localization of p53 protein to mitochondria. A potential role in apoptotic signaling

21 January 2018

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p53 has a direct apoptogenic role at the mitochondria

21 January 2018

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The codon 72 polymorphic variants of p53 have markedly different apoptotic potential

21 January 2018

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PUMA couples the nuclear and cytoplasmic proapoptotic function of p53

21 January 2018

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21 January 2018

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Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

21 January 2018

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p53 and the Li-Fraumeni syndrome

21 January 2018

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Gain of function of mutant p53: the mutant p53/NF-Y protein complex reveals an aberrant transcriptional mechanism of cell cycle regulation

21 January 2018

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Dissecting the role of p53 phosphorylation in homologous recombination provides new clues for gain-of-function mutants

21 January 2018

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An inducible mouse model for skin cancer reveals distinct roles for gain- and loss-of-function p53 mutations

21 January 2018

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p53 gain-of-function cancer mutants induce genetic instability by inactivating ATM.

21 January 2018

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SnapShot: p53 posttranslational modifications

21 January 2018

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Post-translational modifications and activation of p53 by genotoxic stresses

21 January 2018

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Post-translational modification of p53 in tumorigenesis

21 January 2018

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Acetylation is indispensable for p53 activation

21 January 2018

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MDM2 is a central node in the p53 pathway: 12 years and counting

21 January 2018

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A single nucleotide polymorphism in the MDM2 gene disrupts the oscillation of p53 and MDM2 levels in cells

21 January 2018

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Mdmx and Mdm2: brothers in arms?

21 January 2018

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P53 mRNA controls p53 activity by managing Mdm2 functions

21 January 2018

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Keeping p53 in check: essential and synergistic functions of Mdm2 and Mdm4.

21 January 2018

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Regulating the p53 pathway: in vitro hypotheses, in vivo veritas

21 January 2018

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Transcriptional control of human p53-regulated genes

21 January 2018

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Regulation of p53 responses by post-translational modifications

21 January 2018

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The biological impact of the human master regulator p53 can be altered by mutations that change the spectrum and expression of its target genes

21 January 2018

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p53 and its isoforms in cancer

21 January 2018

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p53 protein variants: structural and functional similarities with p63 and p73 isoforms

21 January 2018

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Are interactions with p63 and p73 involved in mutant p53 gain of oncogenic function?

21 January 2018

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The p53 family in differentiation and tumorigenesis.

21 January 2018

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Growth-inhibitory and tumor- suppressive functions of p53 depend on its repression of CD44 expression

21 January 2018

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Some p53-binding proteins that can function as arbiters of life and death.

21 January 2018

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Mitochondrial p53 activates Bak and causes disruption of a Bak-Mcl1 complex.

21 January 2018

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p53's mitochondrial translocation and MOMP action is independent of Puma and Bax and severely disrupts mitochondrial membrane integrity

21 January 2018

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WT p53, but not tumor-derived mutants, bind to Bcl2 via the DNA binding domain and induce mitochondrial permeabilization.

21 January 2018

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The International HapMap Project

21 January 2018

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A second generation human haplotype map of over 3.1 million SNPs

21 January 2018

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Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations

21 January 2018

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Importance of TP53 codon 72 and intron 3 duplication 16bp polymorphisms in prediction of susceptibility on breast cancer

21 January 2018

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A TP53 polymorphism is associated with increased risk of colorectal cancer and with reduced levels of TP53 mRNA.

21 January 2018

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Role in tumorigenesis of silent mutations in the TP53 gene.

21 January 2018

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A "silent" polymorphism in the MDR1 gene changes substrate specificity

21 January 2018

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miR-148 targets human DNMT3b protein coding region

21 January 2018

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p16(INK4a) translation suppressed by miR-24

21 January 2018

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MicroRNAs to Nanog, Oct4 and Sox2 coding regions modulate embryonic stem cell differentiation

21 January 2018

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p53 polymorphism influences response in cancer chemotherapy via modulation of p73-dependent apoptosis

21 January 2018

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Primary structure polymorphism at amino acid residue 72 of human p53.

21 January 2018

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Cell type- and promoter-specific roles of Ser18 phosphorylation in regulating p53 responses

21 January 2018

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Serine15 phosphorylation stimulates p53 transactivation but does not directly influence interaction with HDM2.

21 January 2018

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Ser46 phosphorylation regulates p53-dependent apoptosis and replicative senescence

21 January 2018

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The codon 47 polymorphism in p53 is functionally significant.

21 January 2018

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Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis

21 January 2018

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Comparative analysis of cancer genes in the human and chimpanzee genomes

21 January 2018

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Central role of p53 in the suntan response and pathologic hyperpigmentation

21 January 2018

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p53: a new player in reproduction

21 January 2018

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p53 regulates maternal reproduction through LIF

21 January 2018

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The polyproline region of p53 is required to activate apoptosis but not growth arrest.

21 January 2018

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Identification of a novel p53 functional domain that is necessary for efficient growth suppression

21 January 2018

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Mouse mutants reveal that putative protein interaction sites in the p53 proline-rich domain are dispensable for tumor suppression

21 January 2018

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The prolyl isomerase Pin1 reveals a mechanism to control p53 functions after genotoxic insults

21 January 2018

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The prolyl isomerase Pin1 is a regulator of p53 in genotoxic response.

21 January 2018

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The prolyl isomerase Pin1 orchestrates p53 acetylation and dissociation from the apoptosis inhibitor iASPP

21 January 2018

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iASPP preferentially binds p53 proline-rich region and modulates apoptotic function of codon 72-polymorphic p53.

21 January 2018

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p53 polymorphic variants at codon 72 exert different effects on cell cycle progression

21 January 2018

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p53 codon 72 alleles influence the response to anticancer drugs in cells from aged people by regulating the cell cycle inhibitor p21WAF1.

21 January 2018

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The p53 codon 72 proline allele is endowed with enhanced cell-death inducing potential in cancer cells exposed to hypoxia.

21 January 2018

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Trp53-dependent DNA-repair is affected by the codon 72 polymorphism

21 January 2018

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Role of a p53 polymorphism in the development of human papillomavirus-associated cancer.

21 January 2018

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Polymorphism in wild-type p53 modulates response to chemotherapy in vitro and in vivo

21 January 2018

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Association studies for finding cancer-susceptibility genetic variants

21 January 2018

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P53 codon 72 polymorphism and gastric cancer: a meta-analysis of the literature

21 January 2018

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TP53 polymorphisms and lung cancer risk: a systematic review and meta-analysis

21 January 2018

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Variation in the human TP53 gene affects old age survival and cancer mortality.

21 January 2018

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Polymorphism p53 codon-72 and invasive cervical cancer: a meta-analysis

21 January 2018

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Genome-wide association study identifies novel breast cancer susceptibility loci

21 January 2018

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A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer

21 January 2018

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Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer

21 January 2018

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Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.

21 January 2018

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A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

21 January 2018

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A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25

21 January 2018

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A variant associated with nicotine dependence, lung cancer and peripheral arterial disease

21 January 2018

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Common sequence variants on 20q11.22 confer melanoma susceptibility

21 January 2018

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Multiple newly identified loci associated with prostate cancer susceptibility

21 January 2018

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Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24.

21 January 2018

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Multiple loci identified in a genome-wide association study of prostate cancer

21 January 2018

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p53 polymorphism and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian population.

21 January 2018

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TP53 mutation, allelism and survival in non-small cell lung cancer

21 January 2018

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Breast cancer patients with p53 Pro72 homozygous genotype have a poorer survival

21 January 2018

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p53 Codon 72 polymorphism predicts the pathologic response to neoadjuvant chemotherapy in patients with breast cancer

21 January 2018

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Lack of evidence that p53 Arg72Pro influences lung cancer prognosis: an analysis of survival in 619 female patients

21 January 2018

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A common polymorphism acts as an intragenic modifier of mutant p53 behaviour

21 January 2018

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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

21 January 2018

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Evaluation of the combined effect of p53 codon 72 polymorphism and hotspot mutations in response to anticancer drugs

21 January 2018

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NAD(P)H:quinone oxidoreductase 1 NQO1*2 genotype (P187S) is a strong prognostic and predictive factor in breast cancer

21 January 2018

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Overexpression of Mdm2 in mice reveals a p53-independent role for Mdm2 in tumorigenesis

21 January 2018

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Rescue of embryonic lethality in Mdm2-deficient mice by absence of p53

21 January 2018

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Rescue of early embryonic lethality in mdm2-deficient mice by deletion of p53

21 January 2018

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Tumor suppression and normal aging in mice with constitutively high p53 activity

21 January 2018

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A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans

21 January 2018

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Haplotype structure and selection of the MDM2 oncogene in humans

21 January 2018

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MDM2 SNP309 G allele increases risk but the T allele is associated with earlier onset age of sporadic breast cancers in the Chinese population

21 January 2018

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MDM2 SNP309 Accelerates Tumor Formation in a Gender-Specific and Hormone-Dependent Manner

21 January 2018

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An information-theoretic analysis of genetics, gender and age in cancer patients

21 January 2018

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The single-nucleotide polymorphism 309 in the MDM2 gene contributes to the Li-Fraumeni syndrome and related phenotypes

21 January 2018

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Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome.

21 January 2018

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Association of common ATM variants with familial breast cancer in a South American population.

21 January 2018

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ATM and ataxia telangiectasia

21 January 2018

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DNA damage-induced phosphorylation of p53 alleviates inhibition by MDM2

21 January 2018

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Novel phosphorylation sites of human tumour suppressor protein p53 at Ser20 and Thr18 that disrupt the binding of mdm2 (mouse double minute 2) protein are modified in human cancers

21 January 2018

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ATM and Chk2-dependent phosphorylation of MDMX contribute to p53 activation after DNA damage

21 January 2018

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Rapid ATM-dependent phosphorylation of MDM2 precedes p53 accumulation in response to DNA damage

21 January 2018

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

21 January 2018

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ATM polymorphism and hereditary nonpolyposis colorectal cancer (HNPCC) age of onset (United States).

21 January 2018

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Global analysis of ATM polymorphism reveals significant functional constraint

21 January 2018

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Lost in transcription: p21 repression, mechanisms, and consequences

21 January 2018

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Comprehensive assessment of P21 polymorphisms and lung cancer risk.

21 January 2018

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Association between TP53 and p21 genetic polymorphisms and acute side effects of radiotherapy in breast cancer patients

21 January 2018

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P53 (codon 72) and P21 (codon 31) polymorphisms alter in vivo mRNA expression of p21.

21 January 2018

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The novel p21 polymorphism p21G251A is associated with locally advanced breast cancer.

21 January 2018

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Functional mutants of the sequence-specific transcription factor p53 and implications for master genes of diversity

21 January 2018

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Functionally distinct polymorphic sequences in the human genome that are targets for p53 transactivation.

21 January 2018

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A polymorphic microsatellite that mediates induction of PIG3 by p53.

21 January 2018

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Absence of association with cancer risk and low frequency of alterations at a p53 responsive PIG3 gene polymorphism in breast and lung carcinomas.

21 January 2018

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Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

21 January 2018

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Knock-in mice with a chimeric human/murine p53 gene develop normally and show wild-type p53 responses to DNA damaging agents: a new biomedical research tool.

21 January 2018

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Maximizing mouse cancer models

21 January 2018

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The breast cancer susceptibility allele CHEK2*1100delC promotes genomic instability in a knock-in mouse model.

21 January 2018

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Common tumour p53 mutations in immortalized cells from Hupki mice heterozygous at codon 72.

21 January 2018

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RMCE-ASAP: a gene targeting method for ES and somatic cells to accelerate phenotype analyses

21 January 2018

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Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer.

21 January 2018

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Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2

21 January 2018

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Quaternary structures of tumor suppressor p53 and a specific p53 DNA complex

21 January 2018

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Tumor suppressor p53 Arg72Pro polymorphism and longevity, cancer survival, and risk of cancer in the general population

21 January 2018

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p53 suppresses the self-renewal of adult neural stem cells.

21 January 2018

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The antioxidant function of the p53 tumor suppressor

21 January 2018

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DRAM, a p53-induced modulator of autophagy, is critical for apoptosis

21 January 2018

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The coordinate regulation of the p53 and mTOR pathways in cells

21 January 2018

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p53: new roles in metabolism

21 January 2018

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TIGAR, a p53-inducible regulator of glycolysis and apoptosis

21 January 2018

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p53 regulates mitochondrial respiration

21 January 2018

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p53 induces differentiation of mouse embryonic stem cells by suppressing Nanog expression

21 January 2018

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Direct activation of Bax by p53 mediates mitochondrial membrane permeabilization and apoptosis

21 January 2018

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Detection of functional single-nucleotide polymorphisms that affect apoptosis

21 January 2018

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Cross-talk between Akt, p53 and Mdm2: possible implications for the regulation of apoptosis

21 January 2018

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Combined effects of p73 and MDM2 polymorphisms on the risk of lung cancer.

21 January 2018

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p53/p63/p73 isoforms: an orchestra of isoforms to harmonise cell differentiation and response to stress.

21 January 2018

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p53 proteasomal degradation: poly-ubiquitination is not the whole story

21 January 2018

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Arginine methylation regulates the p53 response

21 January 2018

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Effect of the p53 Codon 72 and Intron 3Polymorphisms on Non-Small Cell Lung Cancer (NSCLC) Prognosis

21 January 2018

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Ser46 phosphorylation of p53 is not always sufficient to induce apoptosis: multiple mechanisms of regulation of p53-dependent apoptosis

21 January 2018

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Lack of correlation between p53-dependent transcriptional activity and the ability to induce apoptosis among 179 mutant p53s

31 March 2020

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Is p53 polymorphism maintained by natural selection?

31 March 2020

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p53 polymorphisms and haplotypes show distinct differences between major ethnic groups

31 March 2020

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Tumor-derived mutations within the DNA-binding domain of p53 that phenotypically resemble the deletion of the proline-rich domain

31 March 2020

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Commonly studied single-nucleotide polymorphisms and breast cancer: results from the Breast Cancer Association Consortium

31 March 2020

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P53 codon 72 polymorphism and risk of squamous cell carcinoma of the head and neck: a case-control study

31 March 2020

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Association of breast cancer outcome with status of p53 and MDM2 SNP309

31 March 2020

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PCR-mediated detection of a polymorphism in the ATM gene

31 March 2020

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Elevated risk of squamous-cell carcinoma of the lung in heavy smokers carrying the variant alleles of the TP53 Arg72Pro and p21 Ser31Arg polymorphisms

31 March 2020

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Association of the PIG3 promoter polymorphism with invasive bladder cancer in a Japanese population

31 March 2020

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Single-nucleotide polymorphisms at the TP53-binding or responsive promoter regions of BAX and BCL2 genes and risk of squamous cell carcinoma of the head and neck

31 March 2020

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Tumor Susceptibility and Apoptosis Defect in a Mouse Strain Expressing a Human p53 Transgene

31 March 2020

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Site-specific cassette exchange and germline transmission with mouse ES cells expressing phiC31 integrase

31 March 2020

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Association of a functional polymorphism in the promoter of the MDM2 gene with risk of nonsmall cell lung cancer

31 March 2020

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NAD(P)H:quinone oxidoreductase 1 (NQO1, DT-diaphorase), functions and pharmacogenetics

31 March 2020

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Functional studies of a germ-line polymorphism at codon 47 within the p53 gene

31 March 2020

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12 December 2020

No association between the p21 codon 31 serine-arginine polymorphism and lung cancer risk

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12 December 2020

Mortality and cancer incidence in 263 patients with ataxia-telangiectasia

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12 December 2020

p53 Codon 72 and p21 codon 31 polymorphisms in prostate cancer

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12 December 2020

Regenerative capacity of neural precursors in the adult mammalian brain is under the control of p53.

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12 December 2020

No point mutation but a codon 31ser-->arg polymorphism of the WAF-1/CIP-1/p21 tumor suppressor gene in nasopharyngeal carcinoma (NPC): the polymorphism distinguishes Caucasians from Chinese.

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12 December 2020

Common polymorphisms in the MDM2 and TP53 genes and the relationship between TP53 mutations and patient outcomes in glioblastomas.

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12 December 2020

Tumor susceptibility of p21(Waf1/Cip1)-deficient mice.

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12 December 2020

A single nucleotide substitution at codon 31 (Ser/Arg) defines a polymorphism in a highly conserved region of the p53-inducible gene WAF1/CIP1

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12 December 2020

p21 is necessary for the p53-mediated G1 arrest in human cancer cells

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12 December 2020

Simple sequence repeat polymorphism within the p53 gene

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12 December 2020

Recent advances in p53 research: an interdisciplinary perspective.

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12 December 2020

Identifiers

DOI

10.1038/NRC2584

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20 August 2017

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PubMed ID

19165225