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Page 1
Current concepts in RET-related genetics, signaling and therapeutics.
Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, Hofstra RM. Plaza-Menacho I, et al. Among authors: burzynski gm. Trends Genet. 2006 Nov;22(11):627-36. doi: 10.1016/j.tig.2006.09.005. Epub 2006 Sep 18. Trends Genet. 2006. PMID: 16979782 Review.
Identifying candidate Hirschsprung disease-associated RET variants.
Burzynski GM, Nolte IM, Bronda A, Bos KK, Osinga J, Plaza Menacho I, Twigt B, Maas S, Brooks AS, Verheij JB, Buys CH, Hofstra RM. Burzynski GM, et al. Am J Hum Genet. 2005 May;76(5):850-8. doi: 10.1086/429589. Epub 2005 Mar 9. Am J Hum Genet. 2005. PMID: 15759212 Free PMC article.
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
Plaza Menacho I, Koster R, van der Sloot AM, Quax WJ, Osinga J, van der Sluis T, Hollema H, Burzynski GM, Gimm O, Buys CH, Eggen BJ, Hofstra RM. Plaza Menacho I, et al. Among authors: burzynski gm. Cancer Res. 2005 Mar 1;65(5):1729-37. doi: 10.1158/0008-5472.CAN-04-2363. Cancer Res. 2005. PMID: 15753368
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, van Langen I, Heutink P, Oostra BA, Hofstra RM, Bertoli-Avella AM. Brooks AS, et al. Among authors: burzynski gm. J Med Genet. 2006 Jul;43(7):e35. doi: 10.1136/jmg.2005.038125. J Med Genet. 2006. PMID: 16816022 Free PMC article.
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: burzynski gm. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.