(Q34565129)

3 August 2017

title

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis (English)

1 reference

3 August 2017

main subject

familial cylindromatosis

1 reference

inferred from title

author name string

Ans M W van den Ouweland

1

1 reference

3 August 2017

Peter Elfferich

2

1 reference

3 August 2017

Roy Lamping

3

1 reference

3 August 2017

Raoul van de Graaf

4

1 reference

3 August 2017

Monique M van Veghel-Plandsoen

5

1 reference

3 August 2017

S M Franken

6

1 reference

3 August 2017

A C Houweling

7

1 reference

3 August 2017

publication date

1 March 2011

1 reference

3 August 2017

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3 August 2017

volume

10

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3 August 2017

issue

1

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3 August 2017

page(s)

127-132

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Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

3 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

The structure of the CYLD USP domain explains its specificity for Lys63-linked polyubiquitin and reveals a B box module

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Loss of the cylindromatosis tumour suppressor inhibits apoptosis by activating NF-kappaB

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Loss of heterozygosity at cylindromatosis gene locus, CYLD, in sporadic skin adnexal tumours.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Identification of the familial cylindromatosis tumour-suppressor gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Dermal eccrine cylindromatosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Epithelioma adenoides cysticum: genetic update

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3036809

Multiple familial trichoepithelioma and familial cylindroma: one cause!

7 July 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9393-Y

Tumor suppressor CYLD regulates JNK-induced cell death in Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9393-Y

Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9393-Y

Real-time genotyping with oligonucleotide probes containing locked nucleic acids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9393-Y

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9393-Y

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-010-9393-Y

CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

21 January 2018

1 reference

12 December 2020

Diverse phenotype of Brooke-Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene

1 reference

12 December 2020

CYLD mutations in familial skin appendage tumours

1 reference

12 December 2020

A case of Brooke-Spiegler syndrome with a novel germline deep intronic mutation in the CYLD gene leading to intronic exonization, diverse somatic mutations, and unusual histology

1 reference

12 December 2020

10.1007/S10689-010-9393-Y

Identifiers

DOI

1 reference

Dimensions Publication ID

3 August 2017

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1 reference

3 August 2017

1 reference