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Items: 1 to 20 of 100

1.

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

Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP.

Am J Hum Genet. 2012 Feb 10;90(2):340-6. doi: 10.1016/j.ajhg.2011.12.008. Epub 2012 Jan 19.

2.

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

Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen LA.

Fam Cancer. 2012 Sep;11(3):525-8. doi: 10.1007/s10689-012-9532-8.

PMID:
22638770
3.

Envoplakin, a possible candidate gene for focal NEPPK/esophageal cancer (TOC): the integration of genetic and physical maps of the TOC region on 17q25.

Risk JM, Ruhrberg C, Hennies H, Mills HS, Di Colandrea T, Evans KE, Ellis A, Watt FM, Bishop DT, Spurr NK, Stevens HP, Leigh IM, Reis A, Kelsell DP, Field JK.

Genomics. 1999 Jul 15;59(2):234-42.

PMID:
10409435
4.

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

Iwaya T, Maesawa C, Ogasawara S, Tamura G.

Gastroenterology. 1998 Jun;114(6):1206-10.

PMID:
9609757
5.

The tylosis esophageal cancer (TOC) locus: more than just a familial cancer gene.

Risk JM, Mills HS, Garde J, Dunn JR, Evans KE, Hollstein M, Field JK.

Dis Esophagus. 1999;12(3):173-6.

PMID:
10631907
6.

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

von Brevern M, Hollstein MC, Risk JM, Garde J, Bennett WP, Harris CC, Muehlbauer KR, Field JK.

Oncogene. 1998 Oct 22;17(16):2101-5.

7.

Down-regulation of the cytoglobin gene, located on 17q25, in tylosis with oesophageal cancer (TOC): evidence for trans-allele repression.

McRonald FE, Liloglou T, Xinarianos G, Hill L, Rowbottom L, Langan JE, Ellis A, Shaw JM, Field JK, Risk JM.

Hum Mol Genet. 2006 Apr 15;15(8):1271-7. Epub 2006 Mar 1.

PMID:
16510494
8.

An investigation of the tylosis with oesophageal cancer (TOC) locus in Iranian patients with oesophageal squamous cell carcinoma.

Shahabi M, Noori Daloii MR, Langan JE, Rowbottom L, Jahanzad E, Khoshbin E, Taghikhani M, Field JK, Risk JM.

Int J Oncol. 2004 Aug;25(2):389-95.

PMID:
15254736
9.

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

Risk JM, Evans KE, Jones J, Langan JE, Rowbottom L, McRonald FE, Mills HS, Ellis A, Shaw JM, Leigh IM, Kelsell DP, Field JK.

Oncogene. 2002 Sep 12;21(41):6395-402.

10.

[RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer].

Dereure O.

Ann Dermatol Venereol. 2012 Aug-Sep;139(8-9):605-6. doi: 10.1016/j.annder.2012.04.001. Epub 2012 May 15. French. No abstract available.

PMID:
22963978
11.

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.

Langan JE, Cole CG, Huckle EJ, Byrne S, McRonald FE, Rowbottom L, Ellis A, Shaw JM, Leigh IM, Kelsell DP, Dunham I, Field JK, Risk JM.

Hum Genet. 2004 May;114(6):534-40. Epub 2004 Mar 9.

PMID:
15007728
12.

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms.

Ellis A, Risk JM, Maruthappu T, Kelsell DP.

Orphanet J Rare Dis. 2015 Sep 29;10:126. doi: 10.1186/s13023-015-0346-2. Review.

13.

RHBDF2-Regulated Growth Factor Signaling in a Rare Human Disease, Tylosis With Esophageal Cancer: What Can We Learn From Murine Models?

Hosur V, Farley ML, Low BE, Burzenski LM, Shultz LD, Wiles MV.

Front Genet. 2018 Jul 4;9:233. doi: 10.3389/fgene.2018.00233. eCollection 2018.

14.

Tissue-specific role of RHBDF2 in cutaneous wound healing and hyperproliferative skin disease.

Hosur V, Lyons BL, Burzenski LM, Shultz LD.

BMC Res Notes. 2017 Nov 7;10(1):573. doi: 10.1186/s13104-017-2899-8.

15.

iRHOM2-dependent regulation of ADAM17 in cutaneous disease and epidermal barrier function.

Brooke MA, Etheridge SL, Kaplan N, Simpson C, O'Toole EA, Ishida-Yamamoto A, Marches O, Getsios S, Kelsell DP.

Hum Mol Genet. 2014 Aug 1;23(15):4064-76. doi: 10.1093/hmg/ddu120. Epub 2014 Mar 18.

16.

Infrequent mutation of the human envoplakin gene is closely linked to the tylosis oesophageal cancer locus in sporadic oesophageal squamous cell carcinomas.

Iwaya T, Maesawa C, Kimura T, Ogasawara S, Ikeda K, Kimura Y, Noda Y, Ishida K, Sato N, Saito K, Masuda T.

Oncol Rep. 2005 Apr;13(4):703-7.

PMID:
15756445
17.

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

Varela AB, Blanco Rodríguez MM, Boullosa PE, Silva JG.

Eur J Gastroenterol Hepatol. 2011 Mar;23(3):286-8. doi: 10.1097/MEG.0b013e328344042d.

PMID:
21285883
18.
19.

[The Clark-Howel-Evans-McConnell syndrome. Observations in one family over 5 generations].

Simon M, Hagedorn M.

Hautarzt. 1997 Nov;48(11):800-5. Review. German.

PMID:
9518240
20.

Tylosis oesophageal cancer mapped.

Risk JM, Field EA, Field JK, Whittaker J, Fryer A, Ellis A, Shaw JM, Friedmann PS, Bishop DT, Bodmer J, et al.

Nat Genet. 1994 Dec;8(4):319-21. No abstract available.

PMID:
7534553

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