Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma (Q35249353)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326321%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma (English)

1 reference

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6 November 2019

1 reference

1

1 reference

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6 November 2019

Brenda L. Gallie

9

1 reference

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6 November 2019

author name string

D C Du

2

1 reference

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6 November 2019

M J Connolly-Wilson

3

1 reference

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6 November 2019

P Bridge

4

1 reference

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6 November 2019

K F Ahmad

5

1 reference

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6 November 2019

H Mostachfi

6

1 reference

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6 November 2019

D Rushlow

7

1 reference

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6 November 2019

J M Dunn

8

1 reference

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6 November 2019

language of work or name

English

0 references

publication date

1 September 1997

1 reference

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American Journal of Human Genetics

6 November 2019

published in

1 reference

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6 November 2019

volume

61

1 reference

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6 November 2019

page(s)

556-570

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6 November 2019

issue

3

1 reference

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A study of retinoblastoma in Ohio

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Degradation of retinoblastoma protein in tumor necrosis factor- and CD95-induced cell death.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Specific cleavage of the retinoblastoma protein by an ICE-like protease in apoptosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Failure to activate interleukin 1beta-converting enzyme-like proteases and to cleave retinoblastoma protein in drug-resistant cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Dual mechanisms of repression of E2F1 activity by the retinoblastoma gene product

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Identification of mutations in the Ki-ras gene in human retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Cost comparison of molecular versus conventional screening of relatives at risk for retinoblastoma.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The organization and expression of the mdm2 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Regulation of the cyclin E gene by transcription factor E2F1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Transgenic and gene disruption techniques in the study of neurocarcinogenesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

A potent transrepression domain in the retinoblastoma protein induces a cell cycle arrest when bound to E2F sites

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Amplification and overexpression of the MDM2 gene in a subset of human malignant gliomas without p53 mutations.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Regions of the retinoblastoma gene product required for its interaction with the E2F transcription factor are necessary for E2 promoter repression and pRb-mediated growth suppression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Regulation of the Ets-related transcription factor Elf-1 by binding to the retinoblastoma protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Physical interaction of the retinoblastoma protein with human D cyclins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Oncoprotein MDM2 conceals the activation domain of tumour suppressor p53

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The activation domain of transcription factor PU.1 binds the retinoblastoma (RB) protein and the transcription factor TFIID in vitro: RB shows sequence similarity to TFIID and TFIIB

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The mdm-2 oncogene can overcome wild-type p53 suppression of transformed cell growth

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Inhibition of E2F-1 transactivation by direct binding of the retinoblastoma protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Cloning of a new member of the retinoblastoma gene family (pRb2) which binds to the E1A transforming domain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

E2F-1-mediated transactivation is inhibited by complex formation with the retinoblastoma susceptibility gene product

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Functional interactions of the retinoblastoma protein with mammalian D-type cyclins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Mortality from second tumors among long-term survivors of retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Inhibition of cell proliferation by p107, a relative of the retinoblastoma protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The retinoblastoma protein binds E2F residues required for activation in vivo and TBP binding in vitro

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Isolation of the Rb-related p130 through its interaction with CDK2 and cyclins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The adenovirus E1A-associated 130-kD protein is encoded by a member of the retinoblastoma gene family and physically interacts with cyclins A and E

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

A C-terminal protein-binding domain in the retinoblastoma protein regulates nuclear c-Abl tyrosine kinase in the cell cycle

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

DRTF1/E2F: an expanding family of heterodimeric transcription factors implicated in cell-cycle control

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Effective amplification of long targets from cloned inserts and human genomic DNA

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Reversal of terminal differentiation mediated by p107 in Rb-/- muscle cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Developmental rescue of an embryonic-lethal mutation in the retinoblastoma gene in chimeric mice

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Interaction between the retinoblastoma protein and the oncoprotein MDM2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Direct transcriptional repression by pRB and its reversal by specific cyclins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The retinoblastoma susceptibility gene product represses transcription when directly bound to the promoter

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Cellular targets for activation by the E2F1 transcription factor include DNA synthesis- and G1/S-regulatory genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Developmental control of the G1 to S transition in Drosophila: cyclin Eis a limiting downstream target of E2F

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Familial Retinoblastoma and Chromosome 13 Deletion Transmitted via an Insertional Translocation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Mutation and cancer: statistical study of retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Second primary neoplasms in patients with retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Association between an oncogene and an anti-oncogene: the adenovirus E1A proteins bind to the retinoblastoma gene product

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Infrequent genomic rearrangement and normal expression of the putative RB1 gene in retinoblastoma tumors

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Abnormalities in structure and expression of the human retinoblastoma gene in SCLC.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Mutations in the RB1 gene and their effects on transcription

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The human papilloma virus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Suppression of tumorigenicity of human prostate carcinoma cells by replacing a mutated RB gene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Hyperphosphorylation of the retinoblastoma gene product is determined by domains outside the simian virus 40 large-T-antigen-binding regions

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The regions of the retinoblastoma protein needed for binding to adenovirus E1A or SV40 large T antigen are common sites for mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Genetic counselling in retinoblastoma: importance of ocular fundus examination of first degree relatives and linkage analysis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

A cellular protein that competes with SV40 T antigen for binding to the retinoblastoma gene product

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Cloning of cDNAs for cellular proteins that bind to the retinoblastoma gene product

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Molecular cloning, chromosomal mapping, and expression of the cDNA for p107, a retinoblastoma gene product-related protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Nonfunctional mutants of the retinoblastoma protein are characterized by defects in phosphorylation, viral oncoprotein association, and nuclear tethering

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

C-terminal truncation of the retinoblastoma gene product leads to functional inactivation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The retinoblastoma gene product regulates progression through the G1 phase of the cell cycle

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Paternal selection favoring mutant alleles of the retinoblastoma susceptibility gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Amplification of a gene encoding a p53-associated protein in human sarcomas

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Identification of a growth suppression domain within the retinoblastoma gene product

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

The interaction of RB with E2F coincides with an inhibition of the transcriptional activity of E2F

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Biological function of the retinoblastoma protein requires distinct domains for hyperphosphorylation and transcription factor binding

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Effects of an Rb mutation in the mouse

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Mice deficient for Rb are nonviable and show defects in neurogenesis and haematopoiesis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Regulation of retinoblastoma protein functions by ectopic expression of human cyclins

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Transcriptional repression of the E2-containing promoters EIIaE, c-myc, and RB1 by the product of the RB1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Functional analysis at the Cys706 residue of the retinoblastoma protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Retinoblastoma protein binding properties are dependent on 4 cysteine residues in the protein binding pocket

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Delayed mutation as a cause of retinoblastoma: application to genetic counseling

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Characterization of a new continuous cell line derived from a human retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Hereditary retinoblastoma: delayed mutation or host resistance?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Targeted expression of MDM2 uncouples S phase from mitosis and inhibits mammary gland development independent of p53.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Patient with 13 Chromosome Deletion: Evidence That the Retinoblastoma Gene Is a Recessive Cancer Gene

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

Preferential germline mutation of the paternal allele in retinoblastoma

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715941

MDM2 gene amplification in metastatic osteosarcoma

15 November 2018

1 reference

12 December 2020

Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis

1 reference

12 December 2020

Mutation spectrum of the retinoblastoma gene in osteosarcomas

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

Effects of heterozygosity for the Rb-1t19neo allele in the mouse

1 reference

12 December 2020

Altered expression of the retinoblastoma (RB) gene in small-cell carcinoma of the lung

1 reference

12 December 2020

p53 Mutation and MDM2 amplification in human soft tissue sarcomas

1 reference

12 December 2020

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

1 reference

12 December 2020

Apoptosis is associated with cleavage of a 5 kDa fragment from RB which mimics dephosphorylation and modulates E2F binding

1 reference

12 December 2020

Effect of polylysine-bound laminin on human retinoblastoma cell lines

1 reference

12 December 2020

Cooperative tumorigenic effects of germline mutations in Rb and p53

1 reference

12 December 2020

Heterozygous Rb-1 delta 20/+mice are predisposed to tumors of the pituitary gland with a nearly complete penetrance

1 reference

12 December 2020

Point mutational inactivation of the retinoblastoma antioncogene

1 reference

12 December 2020

Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study

1 reference

12 December 2020

Significance of Retinoma and Phthisis Bulbi for Retinoblastoma

1 reference

12 December 2020

Structural alterations at the putative retinoblastoma locus in some human leukemias and preleukemia

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

Molecular abnormalities of mdm2 and p53 genes in adult soft tissue sarcomas

1 reference

12 December 2020

Characterization of intragenic deletions in two sporadic germinal mutation cases of retinoblastoma resulting in abnormal gene expression

1 reference

12 December 2020

Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis

1 reference

12 December 2020

Isochromosome 6p, a unique chromosomal abnormality in retinoblastoma: Verification by standard staining techniques, new densitometric methods, and somatic cell hybridization

1 reference

12 December 2020

Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing

1 reference

12 December 2020

Pseudo low penetrance in retinoblastoma. Fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees

1 reference

12 December 2020

Independent constitutional germline mutations occurring in the RB1 gene in cousins with bilateral retinoblastoma

1 reference

12 December 2020

Identifiers

DOI

10.1086/515499

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326321%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326321%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference