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Dr. Ir. Hans van Bokhoven
The main research goal is to gain insight into the molecular networks that are disrupted in neurodevelopmental disorders, such as mental retardation (MR) and disorders with an abnormal brain architecture. To achieve this, my group follows a translational approach: from patients to genes to molecular pathways to model organisms and back again to the patients. This strategy is reflected by the four complementary research lines within my group: (1) Human molecular genetics research; (2) Creation and characterization of fly models (Drosophila) for brain disorders; (3) Phenotypic characterization of rodent models (rat and mouse); (4) Molecular and cellular (neuro)biology. The close interaction between scientists from various disciplines provides a highly stimulating research environment. The generated new insights into the molecular genetic pathways of MR will be readily used to improve diagnostic and clinical management of patients and, in the long run, may provide a handle for the development of new strategies for therapeutic interventions. |
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Recent key publications Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H (2008) A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells like syndromes. Hum Mol Genet. 17, 1968-1977. 2. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S (2008) Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet Jan;40(1):32-4. 3. de Brouwer AP, Williams KL, Duley J, van Kuilenburg AB, Nabuurs S, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet 81, 507-518. 4. Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H (2006) Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome. Am J Hum Genet 79, 370-377. 5. Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B (2006) Mutations in different components of FGF signaling in LADD syndrome. Nat Genet. 38, 414-417. |
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