(Q52858162)

9 May 2018

title

Intronic sequence variants of the CDKN2A gene in melanoma pedigrees. (English)

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9 May 2018

author

Timothy Bishop

8

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9 May 2018

Julia A Newton Bishop

9

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9 May 2018

Graham J Mann

object named as

Graham J Mann

7

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author name string

Mark Harland

1

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9 May 2018

Claire F Taylor

2

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9 May 2018

Sylvia Bass

3

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9 May 2018

Michael Churchman

4

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9 May 2018

Juliette A Randerson-Moor

5

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9 May 2018

Elizabeth A Holland

6

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9 May 2018

publication date

1 June 2005

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9 May 2018

Genes, Chromosomes and Cancer

published in

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9 May 2018

volume

43

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9 May 2018

issue

2

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9 May 2018

page(s)

128-136

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9 May 2018

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences

cites work

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p16(Ink4a) in melanocyte senescence and differentiation.

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Molecular regulation of melanocyte senescence

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

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A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

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7 January 2021

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

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7 January 2021

Predictive identification of exonic splicing enhancers in human genes

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7 January 2021

Analysis of the CDKN2A, CDKN2B and CDK4 genes in 48 Australian melanoma kindreds

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7 January 2021

The CDKN2A (p16) gene and human cancer.

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7 January 2021

Screening for CDKN2A mutations in hereditary melanoma

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7 January 2021

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

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7 January 2021

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds

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7 January 2021

Germline Mutations of the CDKN2 Gene in UK Melanoma Families

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7 January 2021

Mutation screening of theCDKN2A promoter in melanoma families

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7 January 2021

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

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7 January 2021

Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families

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7 January 2021

The current situation with regard to human melanoma and genetic inferences.

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7 January 2021

Germline mutation of ARF in a melanoma kindred

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7 January 2021

Cytoplasmic degradation of splice-defective pre-mRNAs and intermediates

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7 January 2021

CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas

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7 January 2021

Biallelic mutations in p16(INK4a) confer resistance to Ras- and Ets-induced senescence in human diploid fibroblasts

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7 January 2021

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder

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7 January 2021

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

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7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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7 January 2021

Allelic discrimination by nick-translation PCR with fluorogenic probes

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7 January 2021

Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene

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7 January 2021

Role of the p16 tumor suppressor gene in cancer

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7 January 2021

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

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7 January 2021

Germline splicing mutations of CDKN2A predispose to melanoma

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7 January 2021

Mutation testing in melanoma families: INK4A, CDK4 and INK4D

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7 January 2021

Genomic variants in exons and introns: identifying the splicing spoilers

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7 January 2021

CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred

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7 January 2021

Screening of germline mutations in the CDK4, CDKN2C and TP53 genes in familial melanoma: a clinic-based population study

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutation analysis of theCDKN2A promoter in Australian melanoma families

1 reference

7 January 2021

A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family

1 reference

7 January 2021

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

1 reference

7 January 2021

Mutations in theINK4a/ARFMelanoma Susceptibility Locus Functionally Impair p14ARF

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7 January 2021

The INK4 family of cell cycle inhibitors in cancer

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7 January 2021

CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF.

1 reference

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]

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7 January 2021

Identifiers

DOI

10.1002/GCC.20177

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9 May 2018

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9 May 2018