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Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.
Ylikorkala A, Avizienyte E, Tomlinson IP, Tiainen M, Roth S, Loukola A, Hemminki A, Johansson M, Sistonen P, Markie D, Neale K, Phillips R, Zauber P, Twama T, Sampson J, Järvinen H, Mäkelä TP, Aaltonen LA. Ylikorkala A, et al. Among authors: markie d. Hum Mol Genet. 1999 Jan;8(1):45-51. doi: 10.1093/hmg/8.1.45. Hum Mol Genet. 1999. PMID: 9887330
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.
Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. Hemminki A, et al. Among authors: markie d. Nature. 1998 Jan 8;391(6663):184-7. doi: 10.1038/34432. Nature. 1998. PMID: 9428765
Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome.
Marsh DJ, Roth S, Lunetta KL, Hemminki A, Dahia PL, Sistonen P, Zheng Z, Caron S, van Orsouw NJ, Bodmer WF, Cottrell SE, Dunlop MG, Eccles D, Hodgson SV, Järvinen H, Kellokumpu I, Markie D, Neale K, Phillips R, Rozen P, Syngal S, Vijg J, Tomlinson IP, Aaltonen LA, Eng C. Marsh DJ, et al. Among authors: markie d. Cancer Res. 1997 Nov 15;57(22):5017-21. Cancer Res. 1997. PMID: 9371495
Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.
Olschwang S, Markie D, Seal S, Neale K, Phillips R, Cottrell S, Ellis I, Hodgson S, Zauber P, Spigelman A, Iwama T, Loff S, McKeown C, Marchese C, Sampson J, Davies S, Talbot I, Wyke J, Thomas G, Bodmer W, Hemminki A, Avizienyte E, de la Chapelle A, Aaltonen L, Tomlinson I, et al. Olschwang S, et al. Among authors: markie d. J Med Genet. 1998 Jan;35(1):42-4. doi: 10.1136/jmg.35.1.42. J Med Genet. 1998. PMID: 9475093 Free PMC article.
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
Houlston R, Bevan S, Williams A, Young J, Dunlop M, Rozen P, Eng C, Markie D, Woodford-Richens K, Rodriguez-Bigas MA, Leggett B, Neale K, Phillips R, Sheridan E, Hodgson S, Iwama T, Eccles D, Bodmer W, Tomlinson I. Houlston R, et al. Among authors: markie d. Hum Mol Genet. 1998 Nov;7(12):1907-12. doi: 10.1093/hmg/7.12.1907. Hum Mol Genet. 1998. PMID: 9811934
Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.
Zhou XP, Woodford-Richens K, Lehtonen R, Kurose K, Aldred M, Hampel H, Launonen V, Virta S, Pilarski R, Salovaara R, Bodmer WF, Conrad BA, Dunlop M, Hodgson SV, Iwama T, Järvinen H, Kellokumpu I, Kim JC, Leggett B, Markie D, Mecklin JP, Neale K, Phillips R, Piris J, Rozen P, Houlston RS, Aaltonen LA, Tomlinson IP, Eng C. Zhou XP, et al. Among authors: markie d. Am J Hum Genet. 2001 Oct;69(4):704-11. doi: 10.1086/323703. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536076 Free PMC article.
79 results