(Q30375327)

21 June 2017

title

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

1 reference

Brigitte Bressac-de Paillerets

21 June 2017

author

14

object named as

Brigitte Bressac-de Paillerets

0 references

Alain Sarasin

11

object named as

Alain Sarasin

1 reference

21 June 2017

author name string

Caroline Kannengiesser

1

1 reference

21 June 2017

Sharon Brookes

2

1 reference

21 June 2017

Anna Gutierrez del Arroyo

3

1 reference

21 June 2017

Danielle Pham

4

1 reference

21 June 2017

Johny Bombled

5

1 reference

21 June 2017

Michel Barrois

6

1 reference

21 June 2017

Olivier Mauffret

7

1 reference

21 June 2017

Marie-Françoise M Avril

8

1 reference

21 June 2017

Agnès Chompret

9

1 reference

21 June 2017

Gilbert M Lenoir

10

1 reference

21 June 2017

French Hereditary Melanoma Study Group

12

1 reference

21 June 2017

Gordon Peters

13

1 reference

21 June 2017

publication date

1 April 2009

1 reference

21 June 2017

1 reference

21 June 2017

volume

30

1 reference

21 June 2017

issue

4

1 reference

21 June 2017

page(s)

564-574

1 reference

Geographical variation in the penetrance of CDKN2A mutations for melanoma

21 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

Temperature-sensitive mutants of p16CDKN2 associated with familial melanoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

INK4a/ARF: a multifunctional tumor suppressor locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Sporadic multiple primary melanoma cases:CDKN2Agermline mutations with a founder effect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Structure of human cyclin-dependent kinase inhibitor p19INK4d: comparison to known ankyrin-repeat-containing structures and implications for the dysfunction of tumor suppressor p16INK4a

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Impaired inhibition of NF-kappaB activity by melanoma-associated p16INK4a mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

INK4a-deficient human diploid fibroblasts are resistant to RAS-induced senescence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Crystal structure of the complex of the cyclin D-dependent kinase Cdk6 bound to the cell-cycle inhibitor p19INK4d

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Tumor suppressor p16INK4A: determination of solution structure and analyses of its interaction with cyclin-dependent kinase 4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

The tumor suppressor p16(INK4a) prevents cell transformation through inhibition of c-Jun phosphorylation and AP-1 activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

CDKN2A and CDK4 mutation analysis in Italian melanoma-prone families: functional characterization of a novel CDKN2A germ line mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Immortalisation and transformation revisited

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

p53 and p16/CDKN2 gene mutations in esophageal tumors from a high-incidence area in South Africa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Mechanisms of p16INK4A inactivation in non small-cell lung cancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

A mutation hotspot at the p14ARF splice site.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

A CDKN2A mutation in familial melanoma that abrogates binding of p16INK4a to CDK4 but not CDK6

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Genetic testing for melanoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Tumour-derived p16 alleles encoding proteins defective in cell-cycle inhibition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Cancer-associated mis-sense and deletion mutations impair p16INK4 CDK inhibitory activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Clinical and histopathological features of malignant melanoma in germline CDKN2A mutation families.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Growth suppression by p16ink4 requires functional retinoblastoma protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

A large Norwegian family with inherited malignant melanoma, multiple atypical nevi, and CDK4 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

CDKN2A Germline Mutations in Individuals with Cutaneous Malignant Melanoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Mutations associated with familial melanoma impair p16INK4 function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Mutations in theINK4a/ARFMelanoma Susceptibility Locus Functionally Impair p14ARF

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Functional evaluation of tumour-specific variants of p16INK4a/CDKN2A: correlation with protein structure information.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

CDK4 and CDK6 delay senescence by kinase-dependent and p16INK4a-independent mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Structural basis for inhibition of the cyclin-dependent kinase Cdk6 by the tumour suppressor p16INK4a

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Cyclin-dependent kinase inhibitor p16INK4A inhibits phosphorylation of RNA polymerase II by general transcription factor TFIIH

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

CDK inhibitors: positive and negative regulators of G1-phase progression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group [published erratum appears in Hum Mol Genet 1998 May;7(5):941]

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Mitogenic signalling and the p16INK4a-Rb pathway cooperate to enforce irreversible cellular senescence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Alterations of p16 and prognosis in biliary tract cancers from a population-based study in China

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Crystal structure of the CDK4/6 inhibitory protein p18INK4c provides insights into ankyrin-like repeat structure/function and tumor-derived p16INK4 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Tumor suppressor INK4: refinement of p16INK4A structure and determination of p15INK4B structure by comparative modeling and NMR data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

A minimum folding unit in the ankyrin repeat protein p16(INK4)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20845

7 January 2021

Identifiers

DOI

10.1002/HUMU.20845

1 reference

21 June 2017

1 reference