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Mark Nellist

Dr. M.D. NellistAfbeelding

Department of Clinical Genetics
Erasmus MC
Faculty Building, Ee2477A
Wytemaweg 80
3015 CN Rotterdam

The Netherlands

Email: m.nellist@erasmusmc.nl
Tel: +31 (0) 10 7043153




Biographical Sketch
Mark Nellist studied Biochemistry at the University of Bath (United Kingdom) and received his Ph.D. from the University of Cardiff (United Kingdom) in 1994. Since then he has worked for the Department of Clinical Genetics at the Erasmus Medical Centre in Rotterdam (The Netherlands).

Dr. Nellist has a long-standing interest in the pathogenetic mechanisms that underlie tuberous sclerosis complex (TSC), in particular the role of the TSC1-TSC2 protein complex in the regulation of signal transduction through the mammalian target of rapamycin complex 1 (TORC1). Recent work has focussed on the functional characterisation of TSC1 and TSC2 gene variants identified in individuals with TSC.

 


Publications
Hoogerveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D and Nellist M. (2012) Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum. Mutation 33 p476 - 479.

Wentink M, Nellist M, Hoogeveen-Westerveld M, Zonnenberg B, van der Kolk D, van Essen T, Park SM, Woods G, Cohn-Hokke P, Brussel W, Smeets E, Brooks A, Halley D, van den Ouweland A and Maat-Kievit A. (2011) Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds. Clin Genet. doi: 10.1111/j.1399-0004.2011.01648.x. 

van den Ouweland AMW, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJA and Halley DJJ. (2011) Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients. Eur. J. Hum. Genet. 19 p157-163.

Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D and Nellist M. (2011) Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with tuberous sclerosis complex. Hum. Mutation 32 p424 - 435.

Goorden SMI, Hoogeveen-Westerveld M, Cheng C, van Woerden GM, Mozaffari M, Post L, Duckers HJ, Nellist M and Elgersma Y. (2011) Rheb is essential for murine development. Mol. Cell Biol. 31 p1672 - 1678.