Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma (Q39749283)

14 September 2017

Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma (English)

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14 September 2017

Giovanna Bianchi-Scarrà

9

object named as

Giovanna Bianchi-Scarrà

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14 September 2017

Alessandra Bisio

1

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14 September 2017

Sabina Nasti

2

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14 September 2017

Jennifer J Jordan

3

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14 September 2017

Sara Gargiulo

4

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14 September 2017

Lorenza Pastorino

5

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14 September 2017

Alessandro Provenzani

6

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14 September 2017

Alessandro Quattrone

7

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14 September 2017

Paola Queirolo

8

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14 September 2017

Paola Ghiorzo

10

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14 September 2017

Alberto Inga

11

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14 September 2017

21 January 2010

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14 September 2017

Human Molecular Genetics

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14 September 2017

19

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14 September 2017

8

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14 September 2017

1479-1491

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5' CpG island methylation is associated with transcriptional silencing of the tumour suppressor p16/CDKN2/MTS1 in human cancers.

14 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Genetic alterations of cyclins, cyclin-dependent kinases, and Cdk inhibitors in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Intronic sequence variants of the CDKN2A gene in melanoma pedigrees.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

A mutation hotspot at the p14ARF splice site.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Prevalence of 9p21 deletions in UK melanoma families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Genomic rearrangements of the CDKN2A locus are infrequent in Italian malignant melanoma families without evidence of CDKN2A/CDK4 point mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Functional reassessment of P16 variants using a transfection-based assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

CDKN2A mutations and MC1R variants in Italian patients with single or multiple primary melanoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

CDKN2A and MC1R analysis in amelanotic and pigmented melanoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Post-transcriptional regulation in cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Stimulation of mammalian translation initiation factor eIF4A activity by a small molecule inhibitor of eukaryotic translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

The Polycomb protein and E3 ubiquitin ligase Ring1B harbors an IRES in its highly conserved 5' UTR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Identification of internal ribosome entry segment (IRES)-trans-acting factors for the Myc family of IRESs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

The identification of an internal ribosomal entry site in the 5'-untranslated region of p53 mRNA provides a novel mechanism for the regulation of its translation following DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Regulation of p16CDKN2 expression and its implications for cell immortalization and senescence

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

A global map of p53 transcription-factor binding sites in the human genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Sp1 sites in the mouse aprt gene promoter are required to prevent methylation of the CpG island

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Sequence-specific DNA binding activity of RNA helicase A to the p16INK4a promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Differential polysomal localization of human insulin-like-growth-factor-2 mRNAs in cell lines and foetal liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Distinct glucose-dependent stress responses revealed by translational profiling in pancreatic beta-cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

A translational profiling approach for the molecular characterization of CNS cell types

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Human let-7a miRNA blocks protein production on actively translating polyribosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Global alterations in mRNA polysomal recruitment in a cell model of colorectal cancer progression to metastasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Mutation analysis of theCDKN2A promoter in Australian melanoma families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Germline mutation of ARF in a melanoma kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

Mutations in theINK4a/ARFMelanoma Susceptibility Locus Functionally Impair p14ARF

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

MicroRNA Inhibition of Translation Initiation in Vitro by Targeting the Cap-Binding Complex eIF4F

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ022

21 January 2018

Identifiers

DOI

10.1093/HMG/DDQ022

1 reference

14 September 2017

1 reference