Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1) (Q42118637)

reason for preferred rank

16 October 2017

Constitutively Methylated Cp G Dinucleotides as Mutation Hot Spots in the Retinoblastoma Gene (RB1) (English)

1 reference

10 November 2024

Constitutively methylated CpG dinucleotides as mutation hot spots in the retinoblastoma gene (RB1) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

10 November 2024

author name string

D. Mancini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

10 November 2024

S. Singh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

10 November 2024

P. Ainsworth

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

10 November 2024

D. Rodenhiser

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

10 November 2024

language of work or name

English

0 references

publication date

1 July 1997

1 reference

PMC publication ID

1715855

16 October 2017

July 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9245987

full work available at URL

10 November 2024

https://doi.org/10.1086/513898

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

https://europepmc.org/articles/PMC1715855

10 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

https://europepmc.org/articles/PMC1715855?pdf=render

10 November 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9245987

https://api.elsevier.com/content/article/PII:S0002929707642797?httpAccept=text/xml

10 November 2024

1 reference

https://api.elsevier.com/content/article/PII:S0002929707642797?httpAccept=text/plain

10 November 2024

1 reference

American Journal of Human Genetics

10 November 2024

published in

1 reference

16 October 2017

61

1 reference

16 October 2017

1

1 reference

16 October 2017

80-87

1 reference

A preference of histone H1 for methylated DNA.

16 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

DNA methylation specifies chromosomal localization of MeCP2.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Methylation and imprinting: from host defense to gene regulation?

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Molecular mechanisms of oncogenic mutations in tumors from patients with bilateral and unilateral retinoblastoma

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

A bipartite nuclear localization signal in the retinoblastoma gene product and its importance for biological activity

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Ubiquitous and tenacious methylation of the CpG site in codon 248 of the p53 gene may explain its frequent appearance as a mutational hot spot in human cancer

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Effects of DNA methylation on topoisomerase I and II cleavage activities

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

High sensitivity mapping of methylated cytosines

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Analysis of the most representative tumour-derived p53 mutants reveals that changes in protein conformation are not correlated with loss of transactivation or inhibition of cell proliferation.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

The bulk chromatin structure of a murine transgene does not vary with its transcriptional or DNA methylation status

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Complete and tissue-independent methylation of CpG sites in the p53 gene: implications for mutations in human cancers.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

CpNpG methylation in mammalian cells

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

DNA methylation affects the formation of active chromatin

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

The CpG dinucleotide and human genetic disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

CpG methylation of the cAMP-responsive enhancer/promoter sequence TGACGTCA abolishes specific factor binding as well as transcriptional activation

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

High levels of de novo methylation and altered chromatin structure at CpG islands in cell lines.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

DNA methylation and gene expression

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

CpG methylation inhibits proenkephalin gene expression and binding of the transcription factor AP-2

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

The methyl-CpG binding protein MeCP2 is essential for embryonic development in the mouse.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715855

Mutations in the retinoblastoma gene and their expression in somatic and tumor cells of patients with hereditary retinoblastoma

17 August 2018

1 reference

12 December 2020

Sp1 transcription factor binds DNA and activates transcription even when the binding site is CpG methylated

1 reference

12 December 2020

Frequency and parental origin of hypermethylated RB1 alleles in retinoblastoma

1 reference

12 December 2020

The retinoblastoma gene is involved in malignant progression of astrocytomas

1 reference

12 December 2020

DNA methylation and cancer

1 reference

12 December 2020

Spectrum of small length germline mutations in the RB1 gene

1 reference

12 December 2020

Frequent constitutional C to T mutations in CGA-arginine codons in the RB1 gene produce premature stop codons in patients with bilateral (hereditary) retinoblastoma

1 reference

12 December 2020

Differential sensitivity to loss of cytosine methyl groups within the hepatic p53 gene of folate/methyl deficient rats

1 reference

12 December 2020

Site and sequence specific DNA methylation in the neurofibromatosis (NF1) gene includes C5839T: the site of the recurrent substitution mutation in exon 31

1 reference

12 December 2020

Heterogenous point mutations in the BRCA1 breast cancer susceptibility gene occur in high frequency at the site of homonucleotide tracts, short repeats and methylatable CpG/CpNpG motifs

1 reference

12 December 2020

Mutational scanning of large genes by extensive PCR multiplexing and two-dimensional electrophoresis: application to the RB1 gene

1 reference

12 December 2020

Homonucleotide tracts, short repeats and CpG/CpNpG motifs are frequent sites for heterogeneous mutations in the neurofibromatosis type 1 (NF1) tumour-suppressor gene

1 reference

12 December 2020

DNA methylation, chromatin structure and the regulation of gene expression

14

1 reference

The spectrum of RB1 germ-line mutations in hereditary retinoblastoma

10 November 2024

26

1 reference

DNA methylation and gene expression.

10 November 2024

32

1 reference

Deoxycytidine methylation and the origin of spontaneous transition mutations in mammalian cells

10 November 2024

37

1 reference

10 November 2024

Identifiers

DOI

10.1086/513898

1 reference

16 October 2017

1 reference

PMC publication ID

1715855

16 October 2017

1 reference

PMC publication ID

1715855