Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer (Q57567427)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer (English)

1 reference

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2 February 2020

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Lauri Aaltonen

7

1 reference

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2 February 2020

4

Kristiina Aittomäki

1 reference

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2 February 2020

author name string

Silva Saarinen

1

1 reference

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2 February 2020

Pia Vahteristo

2

1 reference

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2 February 2020

Virpi Launonen

5

1 reference

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2 February 2020

Tuula Kiviluoto

6

1 reference

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2 February 2020

publication date

1 September 2012

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2 February 2020

1 reference

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2 February 2020

volume

11

1 reference

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2 February 2020

issue

3

1 reference

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2 February 2020

page(s)

525-528

1 reference

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Tylosis associated with carcinoma of the oesophagus and oral leukoplakia in a large Liverpool family--a review of six generations

2 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Palmoplantar keratoderma in association with carcinoma of the esophagus maps to chromosome 17q distal to the keratin gene cluster.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Tumor necrosis factor signaling requires iRhom2 to promote trafficking and activation of TACE

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Tylosis oesophageal cancer mapped

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Loss of heterozygosity in sporadic oesophageal tumors in the tylosis oesophageal cancer (TOC) gene region of chromosome 17q

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10689-012-9532-8

Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22638770

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22638770

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Tylosis esophageal cancer locus on chromosome 17q25.1 is commonly deleted in sporadic human esophageal cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22638770

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10689-012-9532-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638770%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference