Search Results - "Van Der Spek, J"

Gene expression and functional annotation of the human and mouse choroid plexus epithelium by Janssen, Sarah F, van der Spek, Sophie J F, Ten Brink, Jacoline B, Essing, Anke H W, Gorgels, Theo G M F, van der Spek, Peter J, Jansonius, Nomdo M, Bergen, Arthur A B

“…The choroid plexus epithelium (CPE) is a lobed neuro-epithelial structure that forms the outer blood-brain barrier. The CPE protrudes into the brain ventricles…”
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Human mutations in integrator complex subunits link transcriptome integrity to brain development by Oegema, Renske, Baillat, David, Schot, Rachel, van Unen, Leontine M, Brooks, Alice, Kia, Sima Kheradmand, Hoogeboom, A Jeannette M, Xia, Zheng, Li, Wei, Cesaroni, Matteo, Lequin, Maarten H, van Slegtenhorst, Marjon, Dobyns, William B, de Coo, Irenaeus F M, Verheijen, Frans W, Kremer, Andreas, van der Spek, Peter J, Heijsman, Daphne, Wagner, Eric J, Fornerod, Maarten, Mancini, Grazia M S

“…Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription…”
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The complement system in glioblastoma multiforme by Bouwens van der Vlis, T A M, Kros, J M, Mustafa, D A M, van Wijck, R T A, Ackermans, L, van Hagen, P M, van der Spek, P J

“…The human complement system is represents the main effector arm of innate immunity and its ambivalent function in cancer has been subject of ongoing dispute…”
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Expression and Interaction Proteomics of GluA1- and GluA3-Subunit-Containing AMPARs Reveal Distinct Protein Composition by van der Spek, Sophie J F, Pandya, Nikhil J, Koopmans, Frank, Paliukhovich, Iryna, van der Schors, Roel C, Otten, Mylene, Smit, August B, Li, Ka Wan

“…The AMPA glutamate receptor (AMPAR) is the major type of synaptic excitatory ionotropic receptor in the brain. AMPARs have four different subunits, GluA1-4…”
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Identification of candidate genes for developmental colour agnosia in a single unique family by Nijboer, Tanja C. W, Hessel, Ellen V. S, van Haaften, Gijs W, van Zandvoort, Martine J, van der Spek, Peter J, Troelstra, Christine, de Kovel, Carolien G. F, Koeleman, Bobby P. C, van der Zwaag, Bert, Brilstra, Eva H, Burbach, J. Peter H

“…Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and…”
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A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A by Ranish, Jeffrey A, Egly, Jean-Marc, Raams, Anja, van der Spek, P J, Aebersold, Ruedi, Hoeijmakers, Jan H J, Vermeulen, Wim, Jaspers, Nicolaas G J, Coin, Frederic, Theil, Arjan, Wijgers, Nils, Hoogstraten, Deborah, Argentini, Manuela, Stefanini, Miria, Giglia-Mari, Giuseppina, Botta, Elena

“…DNA repair-deficient trichothiodystrophy (TTD) results from mutations in the XPD and XPB subunits of the DNA repair and transcription factor TFIIH. In a third…”
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The preconception Mediterranean dietary pattern in couples undergoing in vitro fertilization/intracytoplasmic sperm injection treatment increases the chance of pregnancy by Vujkovic, Marijana, B.Sc, de Vries, Jeanne H., Ph.D, Lindemans, Jan, Ph.D, Macklon, Nick S., Ph.D, van der Spek, Peter J., Ph.D, Steegers, Eric A.P., Ph.D, Steegers-Theunissen, Régine P.M., Ph.D

“…Objective To investigate associations between preconception dietary patterns and IVF/intracytoplasmic sperm injection (ICSI) outcomes validated by biomarkers…”
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Microarray and morphological analysis of early postnatal CRB2 mutant retinas on a pure C57BL/6J genetic background by Alves, Celso Henrique, Bossers, Koen, Vos, Rogier M, Essing, Anke H W, Swagemakers, Sigrid, van der Spek, Peter J, Verhaagen, Joost, Wijnholds, Jan

“…In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The…”
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Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth by Nieminen, Pekka, Morgan, Neil V., Fenwick, Aimée L., Parmanen, Satu, Veistinen, Lotta, Mikkola, Marja L., van der Spek, Peter J., Giraud, Andrew, Judd, Louise, Arte, Sirpa, Brueton, Louise A., Wall, Steven A., Mathijssen, Irene M.J., Maher, Eamonn R., Wilkie, Andrew O.M., Kreiborg, Sven, Thesleff, Irma

“…Craniosynostosis and supernumerary teeth most often occur as isolated developmental anomalies, but they are also separately manifested in several malformation…”
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Glut1/SLC2A1 is crucial for the development of the blood-brain barrier in vivo by Zheng, Ping-Pin, Romme, Edwin, Spek, Peter J. van der, Dirven, Clemens M.F., Willemsen, Rob, Kros, Johan M.

“…Objective The overall permeability of the blood‐brain barrier (BBB) is regulated by specialized cerebral endothelial cells and their junctional complexes,…”
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Characterization of groundwater dynamics in landslides in varved clays by van der Spek, J. E, Bogaard, T. A, Bakker, M

“…Groundwater dynamics may play a significant role in landslides. A detailed model is developed of the groundwater dynamics in landslides in varved clays in the…”
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Effect of Age on Brachial Artery Wall Properties Differs From the Aorta and Is Gender Dependent: A Population Study by van der Heijden-Spek, Janneke J, Staessen, Jan A, Fagard, Robert H, Hoeks, Arnold P, Boudier, Harry A. Struijker, Van Bortel, Luc M

“…ABSTRACTCompliance and distensibility are wall properties of large arteries, which may play a role in cardiovascular disease. The purpose of this study was to…”
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Blue Native PAGE-Antibody Shift in Conjunction with Mass Spectrometry to Reveal Protein Subcomplexes: Detection of a Cerebellar α1/α6-Subunits Containing γ-Aminobutyric Acid Type A Receptor Subtype by Chen, Miao, Koopmans, Frank, Paliukhovich, Iryna, van der Spek, Sophie J F, Dong, Jian, Smit, August B, Li, Ka Wan

“…The pentameric γ-Aminobutyric acid type A receptors (GABA Rs) are ligand-gated ion channels that mediate the majority of inhibitory neurotransmission in the…”
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Metabolomic Signatures for the Effects of Weight Loss Interventions on Severe Obesity in Children and Adolescents by Sohn, Min-Ji, Chae, Woori, Ko, Jae-Sung, Cho, Joo-Youn, Kim, Ji-Eun, Choi, Ji-Yeob, Jang, Han-Byul, Lee, Hye-Ja, Park, Sang-Ick, Park, Kyung-Hee, van der Spek, Peter J, Moon, Jin-Soo

“…Childhood obesity has increased worldwide, and many clinical and public interventions have attempted to reduce morbidity. We aimed to determine the metabolomic…”
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Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN) by Dasgupta, Shatavisha, Koljenović, Senada, van den Bosch, Thierry P P, Swagemakers, Sigrid M A, van der Hoeven, Nick M A, van Marion, Ronald, van der Spek, Peter J, van Doorn, Helena C, van Kemenade, Folkert J, Ewing-Graham, Patricia C

“…Histological diagnosis of differentiated vulvar intraepithelial neoplasia (dVIN), the precursor of human papillomavirus (HPV)-independent vulvar squamous cell…”
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Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase by Zevenbergen, Chantal, Groeneweg, Stefan, Swagemakers, Sigrid M A, de Jong, Arthur, Medici-Van den Herik, Evita, Rispens, Madzy, Klootwijk, Wim, Medici, Marco, de Rijke, Yolanda B, Meima, Marcel E, Larsen, P Reed, Chavatte, Laurent, Venter, Deon, Peeters, Robin P, Van der Spek, Peter J, Visser, W Edward

“…Abstract Context Thyroid hormone is important for normal brain development. The type 2 deiodinase (D2) controls thyroid hormone action in the brain by…”
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Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database by Kounelis, Fotios, Kanterakis, Alexandros, Kanavos, Andreas, Pandi, Maria‐Theodora, Kordou, Zoe, Manusama, Olivia, Vonitsanos, Gerasimos, Katsila, Theodora, Tsermpini, Evangelia‐Eirini, Lauschke, Volker M., Koromina, Maria, Spek, Peter J., Patrinos, George P.

“…FINDbase (http://www.findbase.org) is a comprehensive data resource recording the prevalence of clinically relevant genomic variants in various populations…”
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A new strategy to identify and annotate human RPE-specific gene expression by Booij, Judith C, ten Brink, Jacoline B, Swagemakers, Sigrid M A, Verkerk, Annemieke J M H, Essing, Anke H W, van der Spek, Peter J, Bergen, Arthur A B

“…To identify and functionally annotate cell type-specific gene expression in the human retinal pigment epithelium (RPE), a key tissue involved in age-related…”
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The ethnogeographic variability of genetic factors underlying G6PD deficiency by Koromina, Maria, Pandi, Maria Theodora, van der Spek, Peter J., Patrinos, George P., Lauschke, Volker M.

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency caused by genetic variants in the G6PD gene, constitutes the most common enzymopathy worldwide, affecting…”
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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases by Verheijen, Frans W, Verbeek, Elly, Aula, Nina, Beerens, Cecile E.M.T, Havelaar, Adrie C, Joosse, Marijke, Peltonen, Leena, Aula, Pertti, Galjaard, Hans, van der Spek, Peter J, Mancini, Grazia M.S

“…Sialic acid storage diseases (SASD, MIM 269920) are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or a…”
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