Výsledky vyhledávání - "Lianne C Krab"

Akademický článek

Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndrome.

Autor: Nico J M van Beveren, Lianne C Krab, Sigrid Swagemakers, Gabriëlle H S Buitendijk, Erik Boot, Peter van der Spek, Ype Elgersma, Therese A M J van Amelsvoort

Publikováno v: PLoS ONE, Vol 7, Iss 3, p e33473 (2012)

22q11 Deletion Syndrome (22q11DS) is associated with dysmorphology and a high prevalence of schizophrenia-like symptoms. Several genes located on chromosome 22q11 have been linked to schizophrenia. The deletion is thought to disrupt the expression of

Externí odkaz: https://doaj.org/article/95be85b8a07b47a38fc1fe7fba3cbf58

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Akademický článek

Marked reduction of AKT1 expression and deregulation of AKT1-associated pathways in peripheral blood mononuclear cells of schizophrenia patients.

Autor: Nico J M van Beveren, Gabrielle H S Buitendijk, Sigrid Swagemakers, Lianne C Krab, Christian Röder, Lieuwe de Haan, Peter van der Spek, Ype Elgersma

Publikováno v: PLoS ONE, Vol 7, Iss 2, p e32618 (2012)

BACKGROUND: Recent studies have suggested that deregulated AKT1 signaling is associated with schizophrenia. We hypothesized that if this is indeed the case, we should observe both decreased AKT1 expression as well as deregulation of AKT1 regulated pa

Externí odkaz: https://doaj.org/article/14c19730790f4e469662fc02828b2dbb

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Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Publikováno v: Krab, L C, Marcos-Alcalde, I, Assaf, M, Balasubramanian, M, Andersen, J B, Bisgaard, A M, Fitzpatrick, D R, Gudmundsson, S, Huisman, S A, Kalayci, T, Maas, S M, Martinez, F, McKee, S, Menke, L A, Mulder, P A, Murch, O D, Parker, M, Pie, J, Ramos, F J, Rieubland, C, Rosenfeld Mokry, J A, Scarano, E, Shinawi, M, Gómez-Puertas, P, Tümer, Z & Hennekam, R C 2020, ' Delineation of phenotypes and genotypes related to cohesin structural protein RAD21 ', Human Genetics, vol. 139, pp. 575-592 . https://doi.org/10.1007/s00439-020-02138-2
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
DDFV: Repositorio Institucional de la Universidad Francisco de Vitoria
Universidad Francisco de Vitoria
Human Genetics
Digital.CSIC. Repositorio Institucional del CSIC
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
Human genetics, 139(5), 575-592. Springer Verlag
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype–phenotype relationships is curren

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a46ea7b3f05f0c29790795166cec305
http://hdl.handle.net/10261/235732

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Considerations for Clinical Therapeutic Development of Statins for Neurodevelopmental Disorders

Autor: Ype Elgersma, Myrthe J. Ottenhoff, Lianne C. Krab

Publikováno v: eNeuro, 7(2):0392-19.2020. Society for Neuroscience
eNeuro

The 3-hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMG-CoA reductase) inhibitors lovastatin and simvastatin have both been investigated in clinical trials designed to treat the cognitive deficits associated with neurodevelopmental disorders such a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4fbad2ce7ea6aaadb25b9d2c30afd07
https://doi.org/10.1523/eneuro.0392-19.2020

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Emotional and behavioral problems in children and adolescents with neurofibromatosis type 1

Autor: Thijs van der Vaart, Marie-Claire Y. de Wit, Mie-Jef Descheemaeker, Eric Legius, Rianne Oostenbrink, Ellen Plasschaert, Henriëtte A. Moll, Pieter F. A. de Nijs, André B. Rietman, Bethany A. Nicholson, Lianne C. Krab

Publikováno v: American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 177(3), 319-328. Wiley-Liss Inc.

To assess emotional and behavioral problems in children and adolescents with neurofibromatosis type 1,parents of 183 individuals aged 10.8 ± 3.1 years (range 6-17) completed the Child Behavior Checklist (CBCL). Also, 173 teachers completed the Teach

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb56690bd7c35e9322cc589b046844c
https://doi.org/10.1002/ajmg.b.32612

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Motor learning in children with neurofibromatosis tyoe I

Autor: Femke K. Aarsen, Ype Elgersma, Arja de Goede-Bolder, Henriëtte A. Moll, Lianne C. Krab, Josef N. van der Geest, Chris I. De Zeeuw

Publikováno v: Cerebellum (London, England)
Cerebellum, 10, 14-21. Springer New York

The aim of this study was to quantify the frequently observed problems in motor control in Neurofibromatosis type 1 (NF1) using three tasks on motor performance and motor learning. A group of 70 children with NF1 was compared to age-matched controls.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d791165f1201a806350ac9123da1258
https://hdl.handle.net/20.500.11755/e02199d9-380d-448e-979a-618721fd306f

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Quantitative Differentiation Between Healthy and Disordered Brain Matter in Patients with Neurofibromatosis Type I Using Diffusion Tensor Imaging

Autor: Coriene E. Catsman-Berrevoets, Henriëtte A. Moll, A. de Goede-Bolder, S.J.P.M. van Engelen, Maarten H. Lequin, Saskia M. F. Pluijm, Ype Elgersma, Lianne C. Krab

Publikováno v: American Journal of Neuroradiology, 29, 816-822. American Society of Neuroradiology
AJNR Am J Neuroradiol

BACKGROUND AND PURPOSE: Hyperintensities on T2-weighted images are seen in the brains of most patients with neurofibromatosis type I (NF-1), but the origin of these unidentified bright objects (UBOs) remains obscure. In the current study, we examined

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e496bb4608a297e388196f214e988e9
https://doi.org/10.3174/ajnr.a0921

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Marked Reduction of AKT1 Expression and Deregulation of AKT1-Associated Pathways in Peripheral Blood Mononuclear Cells of Schizophrenia Patients

Autor: Sigrid M.A. Swagemakers, Lianne C. Krab, Gabriëlle H.S. Buitendijk, Ype Elgersma, Nico J.M. van Beveren, Lieuwe de Haan, Christian H. Röder, Peter J. van der Spek

Publikováno v: PLoS ONE, 7(2). Public Library of Science
PLoS ONE
PLoS ONE, Vol 7, Iss 2, p e32618 (2012)
PLoS One (print), 7(2):e32618. Public Library of Science

Background Recent studies have suggested that deregulated AKT1 signaling is associated with schizophrenia. We hypothesized that if this is indeed the case, we should observe both decreased AKT1 expression as well as deregulation of AKT1 regulated pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a438b89d08dcd0f9e70624799f77989d
https://doi.org/10.1371/journal.pone.0032618

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Impact of neurofibromatosis type 1 on school performance

Autor: Lianne C. Krab, Ype Elgersma, Arja de Goede-Bolder, Willem F. M. Arts, Henriëtte A. Moll, Femke K. Aarsen, Coriene E. Catsman-Berrevoets

Publikováno v: Journal of child neurology. 23(9)

School functioning of 86 Dutch neurofibromatosis type 1 children (7-17 years) using teacher questionnaires was analyzed to determine the impact of neurofibromatosis type 1 on school performance. In all, 75% of the neurofibromatosis type 1 children pe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a16827f8edabe54daa6923f7dfc1ce2e
https://pubmed.ncbi.nlm.nih.gov/18827266

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Oncogenes on my mind: ERK and MTOR signaling in cognitive diseases

Autor: Susanna M.I. Goorden, Lianne C. Krab, Ype Elgersma

Publikováno v: Trends in Genetics, 24(10), 498-510. Elsevier Ltd.

Defects in rat sarcoma viral oncogene homolog (RAS)-extracellular signal regulated kinase (ERK) and phosphatidylinositol 3-kinase (PI3K)-mammalian target of rapamycin (MTOR) signaling pathways have recently been shown to cause several genetic disorde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae18b3132178227fb6ae5994cba1562c
https://pubmed.ncbi.nlm.nih.gov/18774199

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