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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.
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
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.
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A. Jiang Q, et al. Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014. Am J Hum Genet. 2015. PMID: 25839327 Free PMC article.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Sribudiani Y, Chauhan RK, Alves MM, Petrova L, Brosens E, Harrison C, Wabbersen T, de Graaf BM, Rügenbrink T, Burzynski G, Brouwer RWW, van IJcken WFJ, Maas SM, de Klein A, Osinga J, Eggen BJL, Burns AJ, Brooks AS, Shepherd IT, Hofstra RMW. Sribudiani Y, et al. Gastroenterology. 2018 Jul;155(1):118-129.e6. doi: 10.1053/j.gastro.2018.03.034. Epub 2018 Mar 28. Gastroenterology. 2018. PMID: 29601828 Free article.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 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.
Hirschsprung disease, associated syndromes and genetics: a review.
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium. Amiel J, et al. J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965226 Review.
20 results