Zobrazeno 1 - 10
of 254
pro vyhledávání: '"J. van Ham"'
Autor:
Claudine W.B. Ruijmbeek, Filomena Housley, Hafiza Idrees, Michael P. Housley, Jenny Pestel, Leonie Keller, Jason K.H. Lai, Herma C. van der Linde, Rob Willemsen, Janett Piesker, Zuhair N. Al-Hassnan, Abdulrahman Almesned, Michiel Dalinghaus, Lisa M. van den Bersselaar, Marjon A. van Slegtenhorst, Federico Tessadori, Jeroen Bakkers, Tjakko J. van Ham, Didier Y.R. Stainier, Judith M.A. Verhagen, Sven Reischauer
Publikováno v:
JCI Insight, Vol 8, Iss 17 (2023)
Pediatric cardiomyopathy (CM) represents a group of rare, severe disorders that affect the myocardium. To date, the etiology and mechanisms underlying pediatric CM are incompletely understood, hampering accurate diagnosis and individualized therapy d
Externí odkaz:
https://doaj.org/article/aaf41c458d6d4f209cf123eaa660ce8c
Autor:
Ellis L. Eikenboom, Sarah Moen, Lotte van Leeuwen, Willemina R.R. Geurts-Giele, Carli M.J. Tops, Tjakko J. van Ham, Winand N.M. Dinjens, Hendrikus J. Dubbink, Manon C.W. Spaander, Anja Wagner
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100167- (2023)
Summary: To identify Lynch syndrome (LS) carriers, DNA mismatch repair (MMR) immunohistochemistry (IHC) is performed on colorectal cancers (CRCs). Upon subsequent LS diagnostics, MMR deficiency (MMRd) sometimes remains unexplained (UMMRd). Recently,
Externí odkaz:
https://doaj.org/article/15f2f8c5450b4384b0c47c436fd10c78
Autor:
Bas Van Stein, Elena Raponi, Zahra Sadeghi, Niek Bouman, Roeland C. H. J. Van Ham, Thomas Back
Publikováno v:
IEEE Access, Vol 10, Pp 103364-103381 (2022)
Explainable Artificial Intelligence (XAI) is an increasingly important field of research required to bring AI to the next level in real-world applications. Global sensitivity analysis (GSA) methods play an important role in XAI, as they can provide a
Externí odkaz:
https://doaj.org/article/912602b853f048eea9e8c199e54528ad
Autor:
Soheil Yousefi, Ruizhi Deng, Kristina Lanko, Eva Medico Salsench, Anita Nikoncuk, Herma C. van der Linde, Elena Perenthaler, Tjakko J. van Ham, Eskeatnaf Mulugeta, Tahsin Stefan Barakat
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-27 (2021)
Abstract Background Non-coding regulatory elements (NCREs), such as enhancers, play a crucial role in gene regulation, and genetic aberrations in NCREs can lead to human disease, including brain disorders. The human brain is a complex organ that is s
Externí odkaz:
https://doaj.org/article/8bd08f49ac6c42ddbc775328a55f61d6
Autor:
Fréderike W. Riemslagh, Rob F. M. Verhagen, Esmay C. van der Toorn, Daphne J. Smits, Wim H. Quint, Herma C. van der Linde, Tjakko J. van Ham, Rob Willemsen
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 11 (2021)
The hexanucleotide (G4C2)-repeat expansion in the C9ORF72 gene is the most common pathogenic cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). This repeat expansion can be translated into dipeptide repeat proteins (DPRs)
Externí odkaz:
https://doaj.org/article/4579136ca9044ab1964e93362e53048d
Autor:
Kim E. Kortekaas, Saskia J. Santegoets, Ziena Abdulrahman, Vanessa J. van Ham, Marij van der Tol, Ilina Ehsan, Helena C. van Doorn, Tjalling Bosse, Mariëtte I. E. van Poelgeest, Sjoerd H. van der Burg
Publikováno v:
Journal for ImmunoTherapy of Cancer, Vol 7, Iss 1, Pp 1-13 (2019)
Abstract Background Vulvar squamous cell carcinoma (VSCC) has been suggested to consist of three subtypes; HPV-positive, HPV-negative mutated TP53 or HPV-negative TP53 wildtype, with different clinical courses. To analyze the immune infiltrate in the
Externí odkaz:
https://doaj.org/article/278594b3dd424428aaf79480406433b9
Publikováno v:
Disease Models & Mechanisms, Vol 14, Iss 8 (2021)
Microglia are highly dynamic cells crucial for developing and maintaining lifelong brain function and health through their many interactions with essentially all cellular components of the central nervous system. The frequent connection of microglia
Externí odkaz:
https://doaj.org/article/cf505e9748e341d984ed8d88867e127d
Autor:
Veronique E. J. van Ham-Borawitz, Margreet W. Harskamp- van Ginkel, Tanja G. M. Vrijkotte, Susanne R. de Rooij
Publikováno v:
TSG - Tijdschrift voor gezondheidswetenschappen. 101:1-9
SamenvattingAchtergrond: Er is onderzocht of slaapdeprivatie bij Nederlandse kinderen van 11 tot 12 jaar kan voorspellen of er op 15- tot 16-jarige leeftijd psychosociale problemen ontstaan.Methode: De data betreffen 1.186 jongeren van het Amsterdam
Autor:
Jordy Dekker, Rachel Schot, Michiel Bongaerts, Walter G. de Valk, Monique M. van Veghel-Plandsoen, Kathryn Monfils, Hannie Douben, Peter Elfferich, Esmee Kasteleijn, Leontine M.A. van Unen, Geert Geeven, Jasper J. Saris, Yvette van Ierland, Frans W. Verheijen, Marianne L.T. van der Sterre, Farah Sadeghi Niaraki, Daphne J. Smits, Hidde H. Huidekoper, Monique Williams, Martina Wilke, Virginie J.M. Verhoeven, Marieke Joosten, Anneke J.A. Kievit, Ingrid M.B.H. van de Laar, Lies H. Hoefsloot, Marianne Hoogeveen-Westerveld, Mark Nellist, Grazia M.S. Mancini, Tjakko J. van Ham
Publikováno v:
American Journal of Human Genetics, 110(2), 251-272. Cell Press
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA sequencing [RNA-seq])
Autor:
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat
Publikováno v:
AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathologica. Springer-Verlag
Acta Neuropathologica. Springer-Verlag
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified bi-allel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fc78cc6dfddfc3f598c41b1aba5238
https://doi.org/10.1007/s00401-023-02579-9
https://doi.org/10.1007/s00401-023-02579-9