Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancerWigard P Kloosterman
Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, Utrecht, 3584 CG, The Netherlands
Genome Biol 12:R103. 2011
..The significance of these clusters for tumor development or metastatic spread is largely unclear...
- Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach
Michal Mokry
Hubrecht Institute, Developmental Biology and Stem Cell Research, KNAW and University Medical Center Utrecht, Uppsalalaan 8, Utrecht, The Netherlands
BMC Genomics 12:256. 2011
..Although sequencing of complete genomes now becomes available, discriminating causal mutations from the enormous amounts of background variation remains a major challenge...
- Repertoire and evolution of miRNA genes in four divergent nematode species
Elzo de Wit
Hubrecht Institute KNAW and University Medical Center Utrecht, Cancer Genomics Center, Utrecht 3584 CT, The Netherlands
Genome Res 19:2064-74. 2009
..The identification and systematic analysis of small RNA repertoire in four nematode species described here provides a valuable resource for understanding the evolutionary dynamics of miRNA-mediated gene regulation...
Mismatch repair deficiency does not enhance ENU mutagenesis in the zebrafish germ lineHarma Feitsma
Hubrecht Institute and Cancer Genomics Center, 3584 CT Utrecht, The Netherlands
Mutagenesis 23:325-9. 2008
..Alternatively, the MMR system in the zebrafish germ line may be saturated very rapidly, thereby having a limited effect on high-dose ENU mutagenesis...
- An ENU-mutagenesis screen in the mouse: identification of novel developmental gene functions
Carolien Wansleeben
Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Centre Utrecht, Utrecht, The Netherlands
PLoS ONE 6:e19357. 2011
..Here we describe a phenotype-based screen for recessive mutations affecting embryonic development...
- Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals
Ruben van Boxtel
Hubrecht Institute for Developmental Biology and Stem Cell Research, Cancer Genomics Center, Royal Netherlands Academy of Sciences, Utrecht, The Netherlands
BMC Genomics 9:460. 2008
..N-ethyl-N-nitrosourea (ENU)-driven target-selected mutagenesis is currently the most successful method in rats, although it is still very laborious and expensive...
- Efficient single nucleotide polymorphism discovery in laboratory rat strains using wild rat-derived SNP candidates
Bart M G Smits
Hubrecht Laboratory, Functional Genomics Group, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
BMC Genomics 6:170. 2005
..Detailed knowledge on genetic variation between strains is important from a biomedical, particularly pharmacogenetic point of view and useful for marker selection for genetic cloning and association studies...
- Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries
Michal Mokry
Hubrecht Institute and University Medical Center Utrecht, KNAW, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Nucleic Acids Res 38:e116. 2010
..Raw sequencing data, alignment files and called SNPs have been submitted into GEO database http://www.ncbi.nlm.nih.gov/geo/ with accession number GSE18542...
- Efficient target-selected mutagenesis in Caenorhabditis elegans: toward a knockout for every gene
Edwin Cuppen
Hubrecht Laboratory, 3584 CT Utrecht, The Netherlands
Genome Res 17:649-58. 2007
..For EMS-mutagenized C. elegans, there are only approximately 500,000 NIMs. We show that a NIM genotyping approach employing high-density microarrays can, in principle, be used for the genome-wide identification of C. elegans knockouts...
- Identification of a rat model for usher syndrome type 1B by N-ethyl-N-nitrosourea mutagenesis-driven forward genetics
Bart M G Smits
Hubrecht Laboratory, Centre for Biomedical Genetics, 3584 CT Utrecht, The Netherlands
Genetics 170:1887-96. 2005
..In addition, we demonstrate proof of principle for the generation and cloning of human disease models in rat using ENU mutagenesis, providing good perspectives for systematic phenotypic screens in the rat...
- Zebrafish with mutations in mismatch repair genes develop neurofibromas and other tumors
Harma Feitsma
Hubrecht Institute for Developmental Biology and Stem Cell Research, Cancer Genomics Center, Utrecht University, Utrecht, The Netherlands
Cancer Res 68:5059-66. 2008
..Our findings indicate that zebrafish mimic distinct features of the human disease and are complementary to mouse models...
- Highly Efficient ENU Mutagenesis in Zebrafish
Ewart de Bruijn
Hubrecht Institute for Developmental Biology and Stem Cell Research, Uppsalalaan 8, 3584, CT, Utrecht, The Netherlands
Methods Mol Biol 546:3-12. 2009
..With this procedure an average germ line mutation load of one mutation every 1.0 x 10(5)-1.5 x 10(5) basepairs is reached routinely in our lab...
- CASCAD: a database of annotated candidate single nucleotide polymorphisms associated with expressed sequences
Victor Guryev
Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584CT, Utrecht, The Netherlands
BMC Genomics 6:10. 2005
..However, such information is very important for selecting the most promising and useful candidate polymorphisms for use in experimental setups...
- Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitations
Magdaléna Harakalová
Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
J Cardiovasc Transl Res 4:271-80. 2011
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- Cloning and expression of new microRNAs from zebrafish
Wigard P Kloosterman
Hubrecht Laboratory, Centre for Biomedical Genetics, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Nucleic Acids Res 34:2558-69. 2006
..Most newly discovered miRNAs have low expression levels and are less conserved in other vertebrate species. Our cloning and expression analysis indicates that most abundant and conserved miRNAs in zebrafish are now known...
- Integrated genome-wide analysis of transcription factor occupancy, RNA polymerase II binding and steady-state RNA levels identify differentially regulated functional gene classes
Michal Mokry
Hubrecht Institute KNAW and University Medical Center, 3584 CT Utrecht, The Netherlands
Nucleic Acids Res 40:148-58. 2012
..These categories are strongly enriched for genes from different functional classes. Our results demonstrate a complementary value in Pol II chip-seq and RNA-seq approaches for better understanding of gene expression regulation...
- Mammalian mirtron genes
Eugene Berezikov
Hubrecht Institute, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Mol Cell 28:328-36. 2007
..This notion is supported by our observation of several clade-specific features of mammalian and invertebrate mirtrons...
- Haplotype block structure is conserved across mammals
Victor Guryev
Hubrecht Laboratory, Utrecht, The Netherlands
PLoS Genet 2:e121. 2006
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- Genetic variation in the zebrafish
Victor Guryev
Hubrecht Laboratory, Netherlands Institute for Developmental Biology, 3584CT, Utrecht, The Netherlands
Genome Res 16:491-7. 2006
..Overall, the levels and organization of genetic variation between and within commonly used zebrafish strains are markedly different from other laboratory model organisms, which may affect experimental design and interpretation...
Rat genetics: the next episodeBart M G Smits
Functional Genomics Group, Hubrecht Laboratory, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Trends Genet 22:232-40. 2006
..Recent developments in single nucleotide polymorphism-based genetic markers and technologies to manipulate the rat genome will undoubtedly be important tools in this next episode...
- A novel mutant allele of Ncx1: a single amino acid substitution leads to cardiac dysfunction
Carolien Wansleeben
Hubrecht Institute, KNAW and University Medical Center Utrecht, Utrecht, The Netherlands
Int J Dev Biol 54:1465-71. 2010
..It provides an in vivo model for this mutation and demonstrates the potential of forward genetic screens in a mammalian system...
- Serotonin transporter deficiency in rats improves inhibitory control but not behavioural flexibility
Judith R Homberg
Hubrecht Institute, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Eur J Neurosci 26:2066-73. 2007
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- Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples
Isaac J Nijman
Hubrecht Institute, Developmental Biology and Stem Cell Research, Royal Netherlands Academy of Arts and Sciences and the University Medical Center Utrecht, Utrecht, The Netherlands
Nat Methods 7:913-5. 2010
..We screened 770 genes (1.4 megabases) in thirty N-ethyl-N-nitrosourea (ENU)-mutagenized rats and identified known variants at >96% sensitivity as well as new mutations at a false positive rate < 1 in 8 megabases...
- Diversity of microRNAs in human and chimpanzee brain
Eugene Berezikov
Hubrecht Laboratory-KNAW, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Nat Genet 38:1375-7. 2006
..These data suggest that evolution of miRNAs is an ongoing process and that along with ancient, highly conserved miRNAs, there are a number of emerging miRNAs...
- Many novel mammalian microRNA candidates identified by extensive cloning and RAKE analysis
Eugene Berezikov
Hubrecht Laboratory, 3584 CT Utrecht, The Netherlands
Genome Res 16:1289-98. 2006
..Most novel microRNAs candidates are not conserved beyond mammals, and ~10% are taxon-specific. Our analyses indicate that the entire microRNA repertoire is not remotely exhausted...
- A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat
Joram D Mul
Hubrecht Institute KNAW and University Medical Center Utrecht, 3584 CT Utrecht, The Netherlands
J Biol Chem 286:26781-93. 2011
..Although we are cautious in making a direct parallel between the presented rodent model and human disease, our data may provide new insight into the pathogenicity of recently identified human LPIN1 mutations...
- Alkylation damage causes MMR-dependent chromosomal instability in vertebrate embryos
Harma Feitsma
Hubrecht Institute, Royal Academy of Arts and Sciences and University Medical Centre Utrecht, Cancer Genomics Center, 3584 CT, Utrecht, The Netherlands
Nucleic Acids Res 36:4047-56. 2008
..Taken together, our results suggest that in vivo alkylation damage results in chromosomal instability and cell death due to aberrantly processed MMR-induced stalled replication forks...
- Chronic loss of melanin-concentrating hormone affects motivational aspects of feeding in the rat
Joram D Mul
Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Center Utrecht, Utrecht, The Netherlands
PLoS ONE 6:e19600. 2011
..Thereby it provides a crucial signal by which hypothalamic neural circuits control energy balance and guide limbic brain areas to enhance motivational or incentive-related aspects of food consumption...
- Homozygous and heterozygous p53 knockout rats develop metastasizing sarcomas with high frequency
Ruben van Boxtel
Hubrecht Institute for Developmental Biology and Stem Cell Research, Cancer Genomics Center, KNAW and University Medical Center Utrecht, Utrecht, The Netherlands
Am J Pathol 179:1616-22. 2011
..These unique features make this rat highly complementary to other rodent p53 knockout models and a versatile tool for investigating tumorigenesis processes as well as genotoxic studies...
- Generation of gene knockouts and mutant models in the laboratory rat by ENU-driven target-selected mutagenesis
Bart M G Smits
Hubrecht Laboratory, Utrecht, The Netherlands
Pharmacogenet Genomics 16:159-69. 2006
..The resulting induced rat models will be powerful tools for studying many aspects of a wide variety of human diseases...
- CONREAL web server: identification and visualization of conserved transcription factor binding sites
Eugene Berezikov
Hubrecht Laboratory, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands
Nucleic Acids Res 33:W447-50. 2005
..Comparative analysis using different algorithms can be started by keyword without any prior sequence retrieval. The interface is available at http://conreal.niob.knaw.nl...
- Dominant-negative ALK2 allele associates with congenital heart defects
Kelly A Smith
Associate Professor, Cardiac Development and Genetics Group, Hubrecht Institute for Developmental Biology and Stem Cell Research, Uppsalalaan 8, 3584 CT Utrecht, Netherlands
Circulation 119:3062-9. 2009
..Despite extensive knowledge of the genetic control of AVS development, few genetic lesions have been identified that are responsible for AVS-associated congenital heart defects...
- ENU mutagenesis to generate genetically modified rat models
Ruben van Boxtel
Hubrect Institute, NIOB KNAW, Utrecht, The Netherlands
Methods Mol Biol 597:151-67. 2010
..Here, we describe the detailed protocols for ENU mutagenesis and mutant retrieval in the rat model organism...
- Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms
Wigard P Kloosterman
Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Cell Rep 1:648-55. 2012
..Our work provides detailed insight into the characteristics of chromothripsis and supports a role for clustered DSBs driving some constitutional chromothripsis rearrangements...
- Rat traps: filling the toolbox for manipulating the rat genome
Ruben van Boxtel
Hubrecht Institute for Developmental Biology and Stem Cell Research, Cancer Genomics Center, Royal Netherlands Academy of Sciences and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Genome Biol 11:217. 2010
..Here we outline the current status, possibilities and application of these techniques in the rat...
- Primary colorectal cancers and their subsequent hepatic metastases are genetically different: implications for selection of patients for targeted treatment
Joost S Vermaat
Department of Medical Oncology, University Medical Center Utrecht, The Netherlands
Clin Cancer Res 18:688-99. 2012
..Here, we analyzed genetic differences between primary colorectal adenocarcinomas (CRC) and their respective hepatic metastasis...
- Melanocortin receptor 4 deficiency affects body weight regulation, grooming behavior, and substrate preference in the rat
Joram D Mul
Hubrecht Institute KNAW and University Medical Center Utrecht, Utrecht, The Netherlands
Obesity (Silver Spring) 20:612-21. 2012
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- Approaches to microRNA discovery
Eugene Berezikov
Hubrecht Laboratory, Uppsalalaan 8, 3584CT Utrecht, The Netherlands
Nat Genet 38:S2-7. 2006
..How can new miRNAs be discovered and distinguished from other types of small RNA? Here we summarize current methods for identifying and validating miRNAs and discuss criteria used to define an miRNA...
- Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
Michael A van Es
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands
Ann Neurol 70:964-73. 2011
..We therefore investigated whether ANG variants could predispose to both ALS and PD...
- Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing
Magdaléna Harakalová
Department of Medical Genetics, University Medical Center Utrecht, The Netherlands
Nat Protoc 6:1870-86. 2011
..This protocol gives details for a single-tube procedure, but scaling to a manual or automated 96-well plate format is possible and discussed...
- Rats go genomic
Bart M G Smits
Functional Genomics Group, Hubrecht Laboratory, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Genome Biol 7:306. 2006
..A report on the meeting 'Rat Genomics and Models', Cold Spring Harbor, USA, 8-11 December 2005...
- The Atp1a1 gene from inbred Dahl salt sensitive rats does not contain the A1079T missense transversion
Michal Mokry
Hubrecht Institute, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Hypertension 51:922-7. 2008
..Although it was possible to readily detect other silent polymorphisms between SS and SR strains in the Atp1a1 gene by all methods used, no evidence for the existence of the A1079T transversion in SS/Jr rats was found...
- Efficient double fragmentation ChIP-seq provides nucleotide resolution protein-DNA binding profiles
Michal Mokry
Cancer Genomics Center, Department of Medical Genetics, Hubrecht Institute and University Medical Center Utrecht, Utrecht, The Netherlands
PLoS ONE 5:e15092. 2010
..Although optimized for the AB/SOLiD platform, the same approach may be applied to other platforms...
- Identification of genetic modifiers of behavioral phenotypes in serotonin transporter knockout rats
Judith Homberg
Hubrecht Institute and University Medical Center Utrecht, Uppsalalaan 8, Utrecht, The Netherlands
BMC Genet 11:37. 2010
..To gain insight into serotonin transporter (SERT)-specific genetic modifiers, we studied an intercross between the Wistar SERT-/- rat and the behaviorally and genetically divergent Brown Norway rat, and performed a QTL analysis...
- E2F7 represses a network of oscillating cell cycle genes to control S-phase progression
Bart Westendorp
Department of Pathobiology, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands
Nucleic Acids Res 40:3511-23. 2012
..These findings provide strong evidence that E2F7 directly controls the downswing of oscillating G(1)/S genes during S-phase progression...
- Dominant missense mutations in ABCC9 cause Cantú syndrome
Magdaléna Harakalová
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Nat Genet 44:793-6. 2012
..Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome...
- Discovery of variants unmasked by hemizygous deletions
Ron Hochstenbach
Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
Eur J Hum Genet 20:748-53. 2012
..Conceivably, inherited deletions may unmask rare pathogenic variants that may exert a phenotypic impact through a recessive mode of gene action...
- Methods for small RNA preparation for digital gene expression profiling by next-generation sequencing
Sam E V Linsen
Hubrecht Institute, Utrecht, The Netherlands
Methods Mol Biol 822:205-17. 2012
..In summary, each of these protocols has its advantages and disadvantages with respect to the ease of including barcodes, costs, and outcome...
- Single nucleotide polymorphisms associated with rat expressed sequences
Victor Guryev
Hubrecht Laboratory, Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584CT, Utrecht, The Netherlands
Genome Res 14:1438-43. 2004
..Two of these "in silico-identified knockouts" reside in interesting QTL regions. Data are publicly available via a Web interface (http://cascad.niob.knaw.nl), allowing simple and advanced search queries...
- Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
Wigard P Kloosterman
Department of Medical Genetics, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
Hum Mol Genet 20:1916-24. 2011
..We conclude that a similar mechanism may also drive the formation of de novo structural variation in the germline...
- Target-selected mutagenesis of the rat
Bart M G Smits
Functional Genomics Group, Centre for Biomedical Genetics, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Genomics 83:332-4. 2004
..We here report proof of principle for target-selected mutagenesis as a reverse genetic or knockout approach for the rat...
- CONREAL: conserved regulatory elements anchored alignment algorithm for identification of transcription factor binding sites by phylogenetic footprinting
Eugene Berezikov
Hubrecht Laboratory, Netherlands Institute for Developmental Biology, 3584 CT, Utrecht, The Netherlands
Genome Res 14:170-8. 2004
..CONREAL is accessible via a Web interface at http://conreal.niob.knaw.nl/...
- Efficient target-selected mutagenesis in zebrafish
Erno Wienholds
Hubrecht Laboratory, The Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Genome Res 13:2700-7. 2003
..Furthermore,we show that TILLING can be used to detect the full spectrum of ENU-induced mutations in a vertebrate genome with the presence of many naturally occurring polymorphisms...
- Generation of genetically modified rodents using random ENU mutagenesis
Ruben van Boxtel
Royal Netherlands Academy of Sciences, Hubrecht Institute and University Medical Center Utrecht, Utrecht, The Netherlands
Methods Mol Biol 693:295-308. 2011
..Here, we describe the detailed protocols for ENU mutagenesis and for mutant retrieval...
- Serotonin transporter deficiency increases abdominal fat in female, but not male rats
Judith R Homberg
Functional Genomics and Bioinformatics, Hubrecht Institute, University Medical Center Utrecht, Utrecht, The Netherlands
Obesity (Silver Spring) 18:137-45. 2010
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- Zebrafish as a cancer model
Harma Feitsma
Hubrecht Institute for Developmental Biology and Stem Cell Research, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Mol Cancer Res 6:685-94. 2008
..This review aims to provide a comprehensive overview of the state of the art of zebrafish as a model in cancer research. (Mol Cancer Res 2008;6(5):685-94)...
- Mutagenic capacity of endogenous G4 DNA underlies genome instability in FANCJ-defective C. elegans
Evelien Kruisselbrink
Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Centre Utrecht, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands
Curr Biol 18:900-5. 2008
..The existence of 376,000 potentially mutagenic G4 DNA sites in the human genome could have major implications for the etiology of hereditary FancJ and nonhereditary cancers...
- RAP-1 and the RAL-1/exocyst pathway coordinate hypodermal cell organization in Caenorhabditis elegans
Ester W Frische
Department of Physiological Chemistry, Centre for Biomedical Genetics, UMC Utrecht, Utrecht, The Netherlands
EMBO J 26:5083-92. 2007
..Genetic interactions show that the RAP-1 and RAL-1/exocyst pathway also act in parallel during larval stages. Together these data provide in vivo evidence for the exocyst complex as a downstream RAL-1 effector in cell migration...
- The Wnt/beta-catenin pathway regulates cardiac valve formation
Adam F L Hurlstone
Netherlands Institute for Developmental Biology, Hubrecht Laboratory and Centre for Biomedical Genetics, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands
Nature 425:633-7. 2003
..Our findings identify a novel role for Wnt/beta-catenin signalling in determining endocardial cell fate...
- Next-generation sequencing approaches in genetic rodent model systems to study functional effects of human genetic variation
Victor Guryev
Hubrecht Institute and University Medical Center Utrecht, Cancer Genomics Center, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
FEBS Lett 583:1668-73. 2009
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- FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands
Ewout J N Groen
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan, Utrecht, The Netherlands
Arch Neurol 67:224-30. 2010
..To assess the frequency of FUS mutations in 52 probands with familial amyotrophic lateral sclerosis (FALS) and to provide careful documentation of clinical characteristics...
- Genome-wide pattern of TCF7L2/TCF4 chromatin occupancy in colorectal cancer cells
Pantelis Hatzis
Hubrecht Institute, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Mol Cell Biol 28:2732-44. 2008
..The TCF4-binding regions significantly correlate with Wnt-responsive gene expression profiles derived from primary human adenomas and often behave as beta-catenin/TCF4-dependent enhancers in transient reporter assays...
- Distribution and functional impact of DNA copy number variation in the rat
Victor Guryev
Hubrecht Institute, Royal Netherlands Academy of Arts and Sciences and University Medical Centre Utrecht, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands
Nat Genet 40:538-45. 2008
..These characteristics make the rat an excellent model for studying phenotypic effects of structural variation in relation to human complex traits and disease...
- Adaptations in pre- and postsynaptic 5-HT1A receptor function and cocaine supersensitivity in serotonin transporter knockout rats
Judith R Homberg
Hubrecht Institute, Uppsalalaan 8, 3584, CT, Utrecht, The Netherlands
Psychopharmacology (Berl) 200:367-80. 2008
..While individual differences in vulnerability to psychostimulants have been largely attributed to dopaminergic neurotransmission, the role of serotonin is not fully understood...
- Small RNA expression and strain specificity in the rat
Sam E V Linsen
Hubrecht Institute KNAW and University Medical Center Utrecht, Cancer Genomics Center, Utrecht, The Netherlands
BMC Genomics 11:249. 2010
..We describe the expression patterns of known and novel micro (mi)RNAs and piwi-interacting (pi)RNAs...
- The serotonin transporter plays an important role in male sexual behavior: a study in serotonin transporter knockout rats
Johnny S W Chan
Division of Pharmacology, Utrecht Institute for Pharmaceutical Sciences and Rudolf Magnus Institute of Neuroscience, Utrecht University, Sorbonnelaan, Utrecht, The Netherlands
J Sex Med 8:97-108. 2011
..Heterozygous (+/-) serotonin transporter (SERT) rats and SERT knockout rats (-/-) have serotonergic disturbances with significant elevations of basal extracellular 5-HT levels...
- ALK2 mutation in a patient with Down's syndrome and a congenital heart defect
Irene C Joziasse
Department of Cardiology, University Medical Center Utrecht, Utrecht, The Netherlands
Eur J Hum Genet 19:389-93. 2011
..These data indicate that in the context of a DS background, ALK2-mediated reduction of BMP signaling may contribute to CHDs...
- Acute and constitutive increases in central serotonin levels reduce social play behaviour in peri-adolescent rats
Judith R Homberg
Hubrecht Institute, Uppsalalaan 8, 3584 CT, Utrecht, The Netherlands
Psychopharmacology (Berl) 195:175-82. 2007
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- Mlh1 deficiency in zebrafish results in male sterility and aneuploid as well as triploid progeny in females
Harma Feitsma
Hubrecht Laboratory, Centre for Biomedical Genetics, 3584 CT, Utrecht, The Netherlands
Genetics 175:1561-9. 2007
..The frequency of triploid progeny of mlh1 mutant females is much higher than could be expected for random chromosome segregation. Together, these results show that multiple solutions exist for meiotic crossover/segregation problems...
- Haplotype-based genetics in mice and rats
Edwin Cuppen
Hubrecht Laboratory, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Trends Genet 21:318-22. 2005
..However, recent high-density SNP screening in commonly used mouse inbred strains reveals a complex pattern, suggesting that the current expectations for the use of haplotype blocks in genetic mapping will have to be revisited...
- Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism
Sabine A Fuchs
Department of Metabolic Diseases, University Medical Center Utrecht, 3508 AB Utrecht, The Netherlands
Metallomics 4:606-13. 2012
..We anticipate that use of these novel techniques will identify the basic defect in the disorders described in this review, as well as in other genetic disorders of metal metabolism, in the next few years...
- A genome-wide SNP panel for mapping and association studies in the rat
Isaac J Nijman
Hubrecht Institute, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
BMC Genomics 9:95. 2008
..To facilitate genetic studies like QTL mapping, genetic makers that can be easily typed, like SNPs, are essential...
- Functional microRNA screening using a comprehensive lentiviral human microRNA expression library
Jos B Poell
Hubrecht Institute, Cancer Genomics Center, and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
BMC Genomics 12:546. 2011
..Dissecting the complexities of miRNA function continues to prove challenging as miRNAs are predicted to have thousands of targets, and mRNAs can be targeted by dozens of miRNAs...
- Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b
Carolien Wansleeben
Hubrecht Institute, KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Development 137:1067-73. 2010
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- Lack of DNA mismatch repair protein MSH6 in the rat results in hereditary non-polyposis colorectal cancer-like tumorigenesis
Ruben van Boxtel
Hubrecht Institute for Developmental Biology and Stem Cell Research, Cancer Genomics Center, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Carcinogenesis 29:1290-7. 2008
..The MSH6 knockout rat complements existing models for studying genetic instable tumorigenesis as it provides experimental opportunities that are not available or suboptimal in current models...
- Disclosure of individual genetic data to research participants: the debate reconsidered
Annelien L Bredenoord
University Medical Center Utrecht, Julius Center for Health Sciences and Primary Care, Department of Medical Ethics, Stratenum 6 131, PO Box 85500, 3508 GA Utrecht, The Netherlands
Trends Genet 27:41-7. 2011
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- Genetic variation in coding regions between and within commonly used inbred rat strains
Bart M G Smits
Hubrecht Laboratory, The Netherlands Institute for Developmental Biology, Uppsalalaan 8, 3584 CT Utrecht, The Netherlands
Genome Res 14:1285-90. 2004
..Furthermore, we identified 17 non-synonymous SNPs that may have an effect on protein function and contribute to phenotypic differences between different laboratory strains...
- Serotonin transporter null mutation and sexual behavior in female rats: 5-HT1A receptor desensitization
Eelke Snoeren
Department of Psychopharmacology, Utrecht Institute for Pharmaceutical Sciences and Rudolf Magnus Institute of Neuroscience, Utrecht University, Utrecht, The Netherlands
J Sex Med 7:2424-34. 2010
..Heterozygous SERT(+/-) rats express 50% of SERT in comparison to wild-type rats and may therefore model the s/s phenotype of the human SERT promoter (5-HTTLPR) polymorphism...
