Experts and Doctors on mutation in Netherlands


Locale: Netherlands
Topic: mutation

Top Publications

  1. Kloosterhof N, Bralten L, Dubbink H, French P, van den Bent M. Isocitrate dehydrogenase-1 mutations: a fundamentally new understanding of diffuse glioma?. Lancet Oncol. 2011;12:83-91 pubmed publisher
    ..Because IDH1 does not belong to a traditional oncogenic pathway and is specifically and commonly mutated in gliomas, the altered enzymatic activity of IDH1 may provide a fundamentally new understanding of diffuse glioma. ..
  2. Abrahams P, Houweling A, Cornelissen Steijger P, Jaspers N, Darroudi F, Meijers C, et al. Impaired DNA repair capacity in skin fibroblasts from various hereditary cancer-prone syndromes. Mutat Res. 1998;407:189-201 pubmed
    ..These observations indicate that various hereditary cancer-prone syndromes, carrying mutations in different tumor-suppressor genes, exhibit an unexplained impairment of the capacity to repair UV-damaged DNA. ..
  3. Minikel E, Vallabh S, Lek M, Estrada K, Samocha K, Sathirapongsasuti J, et al. Quantifying prion disease penetrance using large population control cohorts. Sci Transl Med. 2016;8:322ra9 pubmed publisher
  4. Stigt J, tHart N, Knol A, Uil S, Groen H. Pyrosequencing analysis of EGFR and KRAS mutations in EUS and EBUS-derived cytologic samples of adenocarcinomas of the lung. J Thorac Oncol. 2013;8:1012-8 pubmed publisher
    ..Pyrosequencing on cytological blocks, especially older tumor blocks, is feasible with a high diagnostic success rate. Failures in HRM were observed in DNA samples with short fragments related to longer storage times. ..
  5. Wilde A, Behr E. Genetic testing for inherited cardiac disease. Nat Rev Cardiol. 2013;10:571-83 pubmed publisher
    ..The accurate interpretation of these results will be the main challenge for the future. ..
  6. Ferro B, Meletiadis J, Wattenberg M, de Jong A, van Soolingen D, Mouton J, et al. Clofazimine Prevents the Regrowth of Mycobacterium abscessus and Mycobacterium avium Type Strains Exposed to Amikacin and Clarithromycin. Antimicrob Agents Chemother. 2016;60:1097-105 pubmed publisher
    ..abscessus and M. avium. The combination of clofazimine with amikacin or clarithromycin was synergistic in vitro. This suggests a potential role for clofazimine in treatment regimens that warrants further evaluation. ..
  7. Heeney J, Dalgleish A, Weiss R. Origins of HIV and the evolution of resistance to AIDS. Science. 2006;313:462-6 pubmed
    ..Further understanding of host resistance factors and the mechanisms of disease in natural primate hosts may provide insight into unexplored therapeutic avenues for the prevention of AIDS. ..
  8. Venselaar H, Te Beek T, Kuipers R, Hekkelman M, Vriend G. Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces. BMC Bioinformatics. 2010;11:548 pubmed publisher
    ..The use of 3D structures helps optimize the results in terms of reliability and details. HOPE's results are easy to understand and are presented in a way that is attractive for researchers without an extensive bioinformatics background. ..
  9. de Boer F, Hogeweg P. Eco-evolutionary dynamics, coding structure and the information threshold. BMC Evol Biol. 2010;10:361 pubmed publisher
    ..We provide a proof of principle for species fulfilling the different roles in an ecosystem when single replicators can no longer cope with all functions simultaneously. This could be a first step in crossing the information threshold. ..

More Information


  1. Smit P, Raedts J, Portyanko V, Debellé F, Gough C, Bisseling T, et al. NSP1 of the GRAS protein family is essential for rhizobial Nod factor-induced transcription. Science. 2005;308:1789-91 pubmed
    ..NSP1 is constitutively expressed, and so it acts as a primary transcriptional regulator mediating all known Nod factor-induced transcriptional responses, and therefore, we named it a Nod factor response factor. ..
  2. Bisoendial R, Hovingh G, Levels J, Lerch P, Andresen I, Hayden M, et al. Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein. Circulation. 2003;107:2944-8 pubmed
    ..These findings indicate that in addition to its long-term role within reverse cholesterol transport, HDL per se also exerts direct beneficial effects on the arterial wall. ..
  3. Verwoert I, Brown A, Slabas A, Stuitje A. A Zea mays GTP-binding protein of the ARF family complements an Escherichia coli mutant with a temperature-sensitive malonyl-coenzyme A:acyl carrier protein transacylase. Plant Mol Biol. 1995;27:629-33 pubmed
    ..Complementation of a mutation affecting bacterial membrane lipid biosynthesis by a plant ARF protein, could indicate the existence of as yet unidentified bacterial equivalents of this ubiquitous eucaryotic GTP-binding protein. ..
  4. t Hart L, Hansen T, Rietveld I, Dekker J, Nijpels G, Janssen G, et al. Evidence that the mitochondrial leucyl tRNA synthetase (LARS2) gene represents a novel type 2 diabetes susceptibility gene. Diabetes. 2005;54:1892-5 pubmed
    ..This is the first report of association between an aminoacyl tRNA synthetase gene and disease. Our results further highlight the important role of mitochondria in glucose homeostasis. ..
  5. Essers M, de Vries Smits L, Barker N, Polderman P, Burgering B, Korswagen H. Functional interaction between beta-catenin and FOXO in oxidative stress signaling. Science. 2005;308:1181-4 pubmed
    ..These results demonstrate a role for beta-catenin in regulating FOXO function that is particularly important under conditions of oxidative stress. ..
  6. Fonager J, Pasini E, Braks J, Klop O, Ramesar J, Remarque E, et al. Reduced CD36-dependent tissue sequestration of Plasmodium-infected erythrocytes is detrimental to malaria parasite growth in vivo. J Exp Med. 2012;209:93-107 pubmed publisher
    ..These results reveal for the first time the importance of sequestration to a malaria infection, with implications for the development of strategies aimed at reducing pathology by inhibiting tissue sequestration. ..
  7. Bijveld M, Florijn R, Bergen A, van den Born L, Kamermans M, Prick L, et al. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology. 2013;120:2072-81 pubmed publisher
    ..The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
  8. Marsman R, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, et al. A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J Am Coll Cardiol. 2014;63:259-66 pubmed publisher
    ..Our approach highlights the utility of exome sequencing in uncovering the genetic defect even in families with a small number of affected individuals. ..
  9. Bongers E, Gubler M, Knoers N. Nail-patella syndrome. Overview on clinical and molecular findings. Pediatr Nephrol. 2002;17:703-12 pubmed
    ..At present evidence for a correlation between the presence and severity of the renal and extrarenal anomalies and LMX1B genotype is lacking. This review focuses on the recent advances in clinical and molecular genetic studies of NPS...
  10. te Welscher P, Zuniga A, Kuijper S, Drenth T, Goedemans H, Meijlink F, et al. Progression of vertebrate limb development through SHH-mediated counteraction of GLI3. Science. 2002;298:827-30 pubmed
    ..Our genetic analysis indicates that SHH signaling counteracts GLI3-mediated repression of key regulator genes, cell survival, and distal progression of limb bud development. ..
  11. Groeneweg J, Ummels A, Mulder M, Bikker H, van der Smagt J, van Mil A, et al. Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Heart Rhythm. 2014;11:2010-7 pubmed publisher
    ..These results highlight the importance of functional assessment of potential splice site variants to improve patient care and facilitate cascade screening. ..
  12. Heemskerk Gerritsen B, Seynaeve C, van Asperen C, Ausems M, Collée J, van Doorn H, et al. Breast cancer risk after salpingo-oophorectomy in healthy BRCA1/2 mutation carriers: revisiting the evidence for risk reduction. J Natl Cancer Inst. 2015;107: pubmed publisher
    ..67 to 1.77). In previous studies, BC risk reduction after RRSO in BRCA1/2 mutation carriers may have been overestimated because of bias. Using a design that maximally eliminated bias, we found no evidence for a protective effect. ..
  13. Hoffmann M, Verzijl D, Lundstrom K, Simmen U, Alewijnse A, Timmerman H, et al. Recombinant Semliki Forest virus for over-expression and pharmacological characterisation of the histamine H(2) receptor in mammalian cells. Eur J Pharmacol. 2001;427:105-14 pubmed
  14. Kleerebezem M, Heutink M, Tommassen J. Characterization of an Escherichia coli rotA mutant, affected in periplasmic peptidyl-prolyl cis/trans isomerase. Mol Microbiol. 1995;18:313-20 pubmed
    ..Our results show that the periplasmic PPIase of E. coli is not essential and that the protein does not play an important role in protein folding. ..
  15. Bell C, Healey E, van Erp S, Bishop B, Tang C, Gilbert R, et al. Structure of the repulsive guidance molecule (RGM)-neogenin signaling hub. Science. 2013;341:77-80 pubmed publisher
    ..We demonstrate that all RGM-NEO1 complexes share this architecture, which therefore represents the core of multiple signaling pathways. ..
  16. Shaltiël I, Aprelia M, Saurin A, Chowdhury D, Kops G, Voest E, et al. Distinct phosphatases antagonize the p53 response in different phases of the cell cycle. Proc Natl Acad Sci U S A. 2014;111:7313-8 pubmed publisher
    ..Taken together, our results show that PP4 and Wip1 are differentially required to counteract the p53-dependent cell cycle arrest in G1 and G2, by antagonizing early or late p53-mediated responses, respectively. ..
  17. Pijpe A, Andrieu N, Easton D, Kesminiene A, Cardis E, Nogues C, et al. Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ. 2012;345:e5660 pubmed publisher
    ..To estimate the risk of breast cancer associated with diagnostic radiation in carriers of BRCA1/2 mutations...
  18. Pierrache L, Kimchi A, Ratnapriya R, Roberts L, Astuti G, Obolensky A, et al. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology. 2017;124:992-1003 pubmed publisher
    ..We observed both phenotypes in 2 siblings carrying the same compound heterozygous variants, which could be explained by variable disease expression and warrants caution when making assertions about genotype-phenotype correlations. ..
  19. Schrickx J, Fink Gremmels J. Implications of ABC transporters on the disposition of typical veterinary medicinal products. Eur J Pharmacol. 2008;585:510-9 pubmed publisher
  20. van Egmond W, Van Haastert P. Characterization of the Roco protein family in Dictyostelium discoideum. Eukaryot Cell. 2010;9:751-61 pubmed publisher
    ..Together, our data show that the Dictyostelium Roco proteins serve a surprisingly diverse set of functions and highlight Roco4 as a key protein for proper stalk cell formation. ..
  21. Chandeck C, Mooi W. Oncogene-induced cellular senescence. Adv Anat Pathol. 2010;17:42-8 pubmed publisher
  22. Janssen R, van Wengen A, Hoeve M, ten Dam M, van der Burg M, van Dongen J, et al. The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med. 2004;200:559-68 pubmed
    ..We propose that the T and B cell compartment of the mosaic father arose as a result of selection of wild-type cells and that this underlies the widely different clinical phenotype. ..
  23. Huizinga E, Tsuji S, Romijn R, Schiphorst M, de Groot P, Sixma J, et al. Structures of glycoprotein Ibalpha and its complex with von Willebrand factor A1 domain. Science. 2002;297:1176-9 pubmed
    ..These detailed insights into the initial interactions in platelet adhesion are relevant to the development of antithrombotic drugs. ..
  24. Biezeveld M, Kuipers I, Geissler J, Lam J, Ottenkamp J, Hack C, et al. Association of mannose-binding lectin genotype with cardiovascular abnormalities in Kawasaki disease. Lancet. 2003;361:1268-70 pubmed
    ..7, 95% CI 1.4-176.5, p=0.026). Our findings suggest that the innate immune system contributes differently to pathophysiology of Kawasaki disease at various ages. ..
  25. Haks M, Pépin E, van den Brakel J, Smeele S, Belkowski S, Kessels H, et al. Contributions of the T cell receptor-associated CD3gamma-ITAM to thymocyte selection. J Exp Med. 2002;196:1-13 pubmed
    ..More importantly, this analysis provides the first direct genetic evidence for a role of the CD3gamma-ITAM in TCR-driven thymocyte selection. ..
  26. Elferink R, Groen A. Genetic defects in hepatobiliary transport. Biochim Biophys Acta. 2002;1586:129-45 pubmed
    ..Four of these transporter genes are associated with inherited diseases. In this minireview we will shortly describe our present understanding of bile formation and the associated inherited defects...
  27. de Boer J, Andressoo J, de Wit J, Huijmans J, Beems R, van Steeg H, et al. Premature aging in mice deficient in DNA repair and transcription. Science. 2002;296:1276-9 pubmed
    ..We hypothesize that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis...
  28. Berrevoets C, Umar A, Trapman J, Brinkmann A. Differential modulation of androgen receptor transcriptional activity by the nuclear receptor co-repressor (N-CoR). Biochem J. 2004;379:731-8 pubmed
    ..These results indicate that lack of N-CoR action allows these antiandrogens to act as strong agonists on the mutant AR. ..
  29. Darbas A, Jaegle M, Walbeehm E, van den Burg H, Driegen S, Broos L, et al. Cell autonomy of the mouse claw paw mutation. Dev Biol. 2004;272:470-82 pubmed
    ..Within the Schwann cell, clp affects a myelin-related signaling pathway that regulates periaxin and Krox-20 expression, but not Oct-6...
  30. Vogel R, Janssen R, Ugalde C, Grovenstein M, Huijbens R, Visch H, et al. Human mitochondrial complex I assembly is mediated by NDUFAF1. FEBS J. 2005;272:5317-26 pubmed
    ..Based on these data, we propose that NDUFAF1 is an important protein for the assembly/stability of complex I. ..
  31. van den Heuvel K, Hulzink J, Barendse G, Wullems G. The expression of tgas118, encoding a defensin in Lycopersicon esculentum, is regulated by gibberellin. J Exp Bot. 2001;52:1427-36 pubmed
    ..The deduced TGAS118 protein displays up to 77% similarity with defensins and as its expression is up-regulated by stimuli such as wounding it is proposed that it may play a role in protection against pathogens. ..
  32. Sachs N, Kreft M, van den Bergh Weerman M, Beynon A, Peters T, Weening J, et al. Kidney failure in mice lacking the tetraspanin CD151. J Cell Biol. 2006;175:33-9 pubmed
    ..Our results support the hypothesis that CD151 plays a key role in strengthening alpha3beta1-mediated adhesion in podocytes. ..
  33. de Kok Y, van der Maarel S, Bitner Glindzicz M, Huber I, Monaco A, Malcolm S, et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 1995;267:685-8 pubmed
    ..These findings indicate that POU3F4 mutations are a molecular cause of DFN3. ..
  34. Luijsterburg M, Dinant C, Lans H, Stap J, Wiernasz E, Lagerwerf S, et al. Heterochromatin protein 1 is recruited to various types of DNA damage. J Cell Biol. 2009;185:577-86 pubmed publisher
    ..Our results show that HP1 proteins are important for DNA repair and may function to reorganize chromatin in response to damage. ..
  35. Hendriks M, Verhoeven V, Buitendijk G, Polling J, Meester Smoor M, Hofman A, et al. Development of Refractive Errors-What Can We Learn From Inherited Retinal Dystrophies?. Am J Ophthalmol. 2017;182:81-89 pubmed publisher
    ..35]) with the highest degree of hyperopia. Refractive errors, in particular myopia, are common in IRD. The bipolar synapse and the inner and outer segments of the photoreceptor may serve as critical sites for myopia development. ..
  36. Riemer P, Rydenfelt M, Marks M, van Eunen K, Thedieck K, Herrmann B, et al. Oncogenic β-catenin and PIK3CA instruct network states and cancer phenotypes in intestinal organoids. J Cell Biol. 2017;216:1567-1577 pubmed publisher
    ..Our work defines phenotypes, signaling network states, and vulnerabilities of transgenic intestinal organoids as a novel approach to understanding oncogene activities and guiding the development of targeted therapies. ..
  37. Bennett J, Tan T, Alcantara D, Tétrault M, Timms A, Jensen D, et al. Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016;98:579-587 pubmed publisher
    ..In addition to identifying the molecular etiology of ECCL, our results support the emerging overlap between mosaic developmental disorders and tumorigenesis. ..
  38. Westdorp H, Kolders S, Hoogerbrugge N, de Vries I, Jongmans M, Schreibelt G. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome. Cancer Lett. 2017;403:159-164 pubmed publisher
    ..Neoantigen-based vaccines might also be a preventive treatment option in healthy biallelic MMR mutation carriers. Future studies need to reveal the safety and efficacy of immunotherapies for patients with CMMRD. ..
  39. Krijger P, Langerak P, van den Berk P, Jacobs H. Dependence of nucleotide substitutions on Ung2, Msh2, and PCNA-Ub during somatic hypermutation. J Exp Med. 2009;206:2603-11 pubmed publisher
    ..These findings significantly add to our understanding of SHM and necessitate an update of present SHM models. ..
  40. Bonifati V, Rizzu P, van Baren M, Schaap O, Breedveld G, Krieger E, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003;299:256-9 pubmed
    ..Elucidating the physiological role of DJ-1 protein may promote understanding of the mechanisms of brain neuronal maintenance and pathogenesis of Parkinson's disease. ..
  41. Siebring J, Elema M, Drubi Vega F, Kovács Á, Haccou P, Kuipers O. Repeated triggering of sporulation in Bacillus subtilis selects against a protein that affects the timing of cell division. ISME J. 2014;8:77-87 pubmed publisher
    ..Here we suggest that UDP-glucose also influences timing of cellular differentiation. ..
  42. Koekkoek S, Hulscher H, Dortland B, Hensbroek R, Elgersma Y, Ruigrok T, et al. Cerebellar LTD and learning-dependent timing of conditioned eyelid responses. Science. 2003;301:1736-9 pubmed
    ..Here, we show that protein kinase C-dependent long-term depression in Purkinje cells is necessary for learning-dependent timing of Pavlovian-conditioned eyeblink responses. ..
  43. Orrit M. Chemistry. The motions of an enzyme soloist. Science. 2003;302:239-40 pubmed
    ..As a new molecular ruler, electron transfer complements other single-molecule methods such as energy transfer (FRET) for distances shorter than a few nanometers. ..
  44. Scheijen B, Bronk M, van der Meer T, de Jong D, Bernards R. High incidence of thymic epithelial tumors in E2F2 transgenic mice. J Biol Chem. 2004;279:10476-83 pubmed
    ..Interestingly, Emu-pp-E2F1 mice do not display cortical thymomas. These data argue that E2F2 promotes unscheduled cell division and oncogenic transformation of thymic epithelial cells. ..
  45. Chang Q, Hoefs S, Van Der Kemp A, Topala C, Bindels R, Hoenderop J. The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel. Science. 2005;310:490-3 pubmed
    ..This maintains durable calcium channel activity and membrane calcium permeability in kidney. Thus, klotho activates a cell surface channel by hydrolysis of its extracellular N-linked oligosaccharides. ..
  46. Atai N, Bansal M, Lo C, Bosman J, Tigchelaar W, Bosch K, et al. Osteopontin is up-regulated and associated with neutrophil and macrophage infiltration in glioblastoma. Immunology. 2011;132:39-48 pubmed publisher
    ..OPN protein expression was co-localized with neutrophils and macrophages. In conclusion, OPN in tumours not only induces migration of cancer cells but also of leucocytes. ..
  47. Fros J, Liu W, Prow N, Geertsema C, Ligtenberg M, Vanlandingham D, et al. Chikungunya virus nonstructural protein 2 inhibits type I/II interferon-stimulated JAK-STAT signaling. J Virol. 2010;84:10877-87 pubmed publisher
    ..This host shutoff-independent inhibition of IFN signaling by CHIKV is likely to have an important role in viral pathogenesis...
  48. Fransen F, Hamstra H, Boog C, van Putten J, van den Dobbelsteen G, van der Ley P. The structure of Neisseria meningitidis lipid A determines outcome in experimental meningococcal disease. Infect Immun. 2010;78:3177-86 pubmed publisher
    ..These results demonstrate the crucial role of N. meningitidis lipid A structure in virulence...