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Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.
de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, Low CGM, Wong ASW, Grussu D, Stegmann APA, van Geel M, Janssen R, Amor DJ, Bahlo M, Dunn NR, Carney TJ, Lockhart PJ, Coull BJ, van Steensel MAM. de Vos IJHM, et al. Among authors: coull bj. Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168. Hum Mol Genet. 2018. PMID: 29741626 Free PMC article.
Birt-Hogg-Dubé syndrome and the skin.
Vernooij M, Claessens T, Luijten M, van Steensel MA, Coull BJ. Vernooij M, et al. Among authors: coull bj. Fam Cancer. 2013 Sep;12(3):381-5. doi: 10.1007/s10689-013-9600-8. Fam Cancer. 2013. PMID: 23307118 Review.
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
Menko FH, Johannesma PC, van Moorselaar RJ, Reinhard R, van Waesberghe JH, Thunnissen E, Houweling AC, Leter EM, Waisfisz Q, van Doorn MB, Starink TM, Postmus PE, Coull BJ, van Steensel MA, Gille JJ. Menko FH, et al. Among authors: coull bj. Fam Cancer. 2013 Sep;12(3):373-9. doi: 10.1007/s10689-012-9593-8. Fam Cancer. 2013. PMID: 23264078
Birt-Hogg-Dube syndrome is a novel ciliopathy.
Luijten MN, Basten SG, Claessens T, Vernooij M, Scott CL, Janssen R, Easton JA, Kamps MA, Vreeburg M, Broers JL, van Geel M, Menko FH, Harbottle RP, Nookala RK, Tee AR, Land SC, Giles RH, Coull BJ, van Steensel MA. Luijten MN, et al. Among authors: coull bj. Hum Mol Genet. 2013 Nov 1;22(21):4383-97. doi: 10.1093/hmg/ddt288. Epub 2013 Jun 19. Hum Mol Genet. 2013. PMID: 23784378 Free PMC article.
The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation.
Yan M, Gingras MC, Dunlop EA, Nouët Y, Dupuy F, Jalali Z, Possik E, Coull BJ, Kharitidi D, Dydensborg AB, Faubert B, Kamps M, Sabourin S, Preston RS, Davies DM, Roughead T, Chotard L, van Steensel MA, Jones R, Tee AR, Pause A. Yan M, et al. Among authors: coull bj. J Clin Invest. 2014 Jun;124(6):2640-50. doi: 10.1172/JCI71749. Epub 2014 Apr 24. J Clin Invest. 2014. PMID: 24762438 Free PMC article.
14 results