(Q36634852)

15 August 2017

Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function (English)

1 reference

15 August 2017

1 reference

familial retinoblastoma

1 reference

inferred from title

incomplete penetrance

0 references

transport protein

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

cell cycle proteins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

penetrance

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

author name string

Chen W

2

1 reference

15 August 2017

G. A. Otterson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

W. d Chen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

A. B. Coxon

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

S. N. Khleif

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

F. J. Kaye

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

20 November 2024

language of work or name

English

0 references

publication date

1 October 1997

1 reference

15 August 2017

28 October 1997

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9342358

20 November 2024

number of pages

5

1 reference

full work available at URL

inferred from page(s)

http://www.pnas.org/content/94/22/12036.full.pdf

file format

Portable Document Format

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%3A9342358

https://europepmc.org/articles/PMC23695

20 November 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A9342358

https://europepmc.org/articles/PMC23695?pdf=render

20 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%3A9342358

https://pnas.org/doi/pdf/10.1073/pnas.94.22.12036

20 November 2024

1 reference

Crossref

DOI

10.1073/PNAS.94.22.12036

https://api.crossref.org/works/10.1073/PNAS.94.22.12036

Proceedings of the National Academy of Sciences of the United States of America

20 November 2024

published in

1 reference

15 August 2017

94

1 reference

15 August 2017

22

1 reference

15 August 2017

12036-12040

1 reference

Physical interaction of the retinoblastoma protein with human D cyclins

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

The retinoblastoma protein and cell cycle control

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Use of lacZ fusions to delimit regulatory elements of the inducible divergent GAL1-GAL10 promoter in Saccharomyces cerevisiae

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

The retinoblastoma protein is phosphorylated during specific phases of the cell cycle

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Frequent inactivation of the retinoblastoma anti-oncogene is restricted to a subset of human tumor cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

A single amino acid substitution results in a retinoblastoma protein defective in phosphorylation and oncoprotein binding

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Retinoblastoma cancer suppressor gene product is a substrate of the cell cycle regulator cdc2 kinase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

The E2F transcription factor is a cellular target for the RB protein

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Identification of cellular proteins that can interact specifically with the T/ElA-binding region of the retinoblastoma gene product

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

The retinoblastoma protein is phosphorylated on multiple sites by human cdc2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Hereditary retinoblastoma: delayed mutation or host resistance?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

RB protein status and clinical correlation from 171 cell lines representing lung cancer, extrapulmonary small cell carcinoma, and mesothelioma.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Detection of a novel cell cycle-regulated kinase activity that associates with the amino terminus of the retinoblastoma protein in G2/M phases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

RB-mediated tumor suppression of a lung cancer cell line is abrogated by an extract enriched in extracellular matrix

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Phosphorylation of the retinoblastoma gene product is modulated during the cell cycle and cellular differentiation

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Identification of a growth suppression domain within the retinoblastoma gene product

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Functional analysis at the Cys706 residue of the retinoblastoma protein

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

A novel mutation in the promotor region in a family with a mild form of retinoblastoma indicates the location of a new regulatory domain for the RB1 gene

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Partial inactivation of the RB product in a family with incomplete penetrance of familial retinoblastoma and benign retinal tumors

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=23695

A new highly polymorphic DNA restriction site marker in the 5' region of the human tyrosine hydroxylase gene (TH) detecting loss of heterozygosity in human embryonal rhabdomyosarcoma

20 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.94.22.12036

The amino terminus of the retinoblastoma (Rb) protein associates with a cyclin-dependent kinase-like kinase via Rb amino acids required for growth suppression

21 January 2018

1 reference

12 December 2020

Cell-mediated immunity to a retinoblastoma tissue culture line in patients with retinoblastoma

1 reference

12 December 2020

SV40 large T antigen binds preferentially to an underphosphorylated member of the retinoblastoma susceptibility gene product family

1 reference

12 December 2020

The product of the retinoblastoma susceptibility gene has properties of a cell cycle regulatory element

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.94.22.12036

1 reference

15 August 2017

0 references

1 reference

15 August 2017

1 reference