(Q34145693)

31 July 2017

title

Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families (English)

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31 July 2017

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familial retinoblastoma

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Otterson GA

1

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31 July 2017

Modi S

2

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31 July 2017

Nguyen K

3

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31 July 2017

Coxon AB

4

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31 July 2017

Kaye FJ

5

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31 July 2017

language of work or name

English

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publication date

1 October 1999

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American Journal of Human Genetics

31 July 2017

published in

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31 July 2017

volume

65

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31 July 2017

issue

4

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31 July 2017

page(s)

1040-1046

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RB1 gene mutations in peripheral blood DNA of patients with isolated unilateral retinoblastoma

31 July 2017

cites work

1 reference

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Hsp90 as a capacitor for morphological evolution

5 July 2018

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Structure of the retinoblastoma tumour-suppressor pocket domain bound to a peptide from HPV E7

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

Stable binding to E2F is not required for the retinoblastoma protein to activate transcription, promote differentiation, and suppress tumor cell growth

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

A new member of the hsp90 family of molecular chaperones interacts with the retinoblastoma protein during mitosis and after heat shock

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

Molecular etiology of low-penetrance retinoblastoma in two pedigrees.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

The retinoblastoma protein and cell cycle control

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

Mutation and cancer: statistical study of retinoblastoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

Patterns of risk of hereditary retinoblastoma and applications to genetic counselling

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

Functional analysis at the Cys706 residue of the retinoblastoma protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

[Distinct Rb gene point mutations in families showing low penetrance of hereditary retinoblastoma]

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

Unbiased transmission of mutant alleles at the human retinoblastoma locus.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288236

28 October 2018

Retinoma: Case studies°

1 reference

12 December 2020

Retinoma and phtisis bulbi: benign expression of retinoblastoma

1 reference

12 December 2020

[Spontaneous growth inhibition in retinoblastoma]

1 reference

12 December 2020

Absence of p16INK4 protein is restricted to the subset of lung cancer lines that retains wildtype RB

1 reference

12 December 2020

Retinoblastoma in Turkey--treatment and prognosis

1 reference

12 December 2020

A novel missense mutation in patients from a retinoblastoma pedigree showing only mild expression of the tumor phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/302581

1 reference

31 July 2017

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31 July 2017

1 reference