Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Holger Rehmann"'
Autor:
Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 217-222 (2023)
Abstract Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4‐year‐old boy with GLS hyperactivity due to a de novo heterozygous missense variant i
Externí odkaz:
https://doaj.org/article/8c7f34563de04820aa37ab8ad392ba9f
Autor:
Sandra Tavares, Nalan Liv, Milena Pasolli, Mark Opdam, Max A.K. Rätze, Manuel Saornil, Lilian M. Sluimer, Rutger C.C. Hengeveld, Robert van Es, Erik van Werkhoven, Harmjan Vos, Holger Rehmann, Boudewijn M.T. Burgering, Hendrika M. Oosterkamp, Susanne M.A. Lens, Judith Klumperman, Sabine C. Linn, Patrick W.B. Derksen
Publikováno v:
Cell Reports, Vol 39, Iss 1, Pp 110584- (2022)
Summary: Elevated expression of non-receptor tyrosine kinase FER is an independent prognosticator that correlates with poor survival of high-grade and basal/triple-negative breast cancer (TNBC) patients. Here, we show that high FER levels are also as
Externí odkaz:
https://doaj.org/article/9434a26e702a448687ec52764f334902
Autor:
Euan Parnell, Stuart P. McElroy, Jolanta Wiejak, Gemma L. Baillie, Alison Porter, David R. Adams, Holger Rehmann, Brian O. Smith, Stephen J. Yarwood
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-12 (2017)
Abstract Screening of a carefully selected library of 5,195 small molecules identified 34 hit compounds that interact with the regulatory cyclic nucleotide-binding domain (CNB) of the cAMP sensor, EPAC1. Two of these hits (I942 and I178) were selecte
Externí odkaz:
https://doaj.org/article/c91ea91952a24175bdc43cc328f5f816
Autor:
Anukrati Nigam, Deborah P. Jones, Martin Konrad, Claudia Dafinger, Karin Klingel, Stéphane Burtey, Francisco J. Arjona, David M. Sabatini, Carsten Bergmann, Eric Schulze-Bahr, Caro Bos, Pascal Houillier, Rosa Vargas-Poussou, Mehmet Eltan, Holger Thiele, Alina Braun, Tulay Guran, Nine V A M Knoers, Jeroen H. F. de Baaij, Janine Altmüller, Max C. Liebau, Karin Dahan, Nathalie Godefroid, Jun Oh, François Jouret, Holger Rehmann, Felix Kleinerüschkamp, Maria Ibars Serra, Bodo B. Beck, Bernhard Schermer, Karl P. Schlingmann, Kirsten Y. Renkema, Fried J. T. Zwartkruis, Kuang Shen, Jens König, Marie-Christine Parotte
Publikováno v:
Journal of the American Society of Nephrology, 32(11). AMER SOC NEPHROLOGY
Journal of the American Society of Nephrology, Vol. 32, no.11, p. 2885-2899 (2021)
Journal of the American Society of Nephrology, 32, 11, pp. 2885-2899
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 2885-2899
Journal of the American Society of Nephrology, Vol. 32, no.11, p. 2885-2899 (2021)
Journal of the American Society of Nephrology, 32, 11, pp. 2885-2899
J Am Soc Nephrol
Journal of the American Society of Nephrology, 32, 2885-2899
Contains fulltext : 244896.pdf (Publisher’s version ) (Closed access) BACKGROUND: Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Neverthele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8850e8d2efcd78ef50a2a9c7c2c8c5de
https://doi.org/10.1681/asn.2021030333
https://doi.org/10.1681/asn.2021030333
Autor:
Irena J.J. Muffels, Imre F. Schene, Holger Rehmann, Maarten P.G. Massink, Maria M. van der Wal, Corinna Bauder, Martha Labeur, Natalia G. Armando, Maarten H. Lequin, Michiel L. Houben, Jaques C. Giltay, Saskia Haitjema, Albert Huisman, Fleur Vansenne, Judith Bluvstein, John Pappas, Lala V. Shailee, Yuri A. Zarate, Michal Mokry, Gijs W. van Haaften, Edward E.S. Nieuwenhuis, Damian Refojo, Femke van Wijk, Sabine A. Fuchs, Peter M. van Hasselt
Publikováno v:
Am. J. Hum. Genet. 110, 146-160 (2023)
Am J Hum Genet
Am J Hum Genet
Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-allelic variants in NAE1, which encodes the neddylation E1 enzyme. Pathogenicity was supported by dec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c527b80bc5f1809a16c16e4c32929181
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=67154
Autor:
Sippe G. de Vries, Wigard P. Kloosterman, Holger Rehmann, William Cross, Myrna van den Bos, Sander Boymans, Bingxin Lu, Susanne M.A. Lens, Hugo J. Snippert, Yannik Bollen, Markus J. van Roosmalen, Maximilian Mossner, Nicolle Besselink, Ellen Stelloo, Christopher Kimberley, Edwin Cuppen, Chris P. Barnes, Petra van Leenen, Bas Ponsioen, Ana C. F. Bolhaqueiro, Koen C. Oost, Bastiaan van der Roest, Trevor A. Graham, Andrea Sottoriva, Geert J. P. L. Kops, Leon W.M.M. Terstappen
Publikováno v:
Nature Genetics, 53(8), 1187-1195. Nature Publishing Group
Nature Genetics
Nature genetics, 53(8), 1187-1195. Nature Publishing Group
Nature Genetics
Nature genetics, 53(8), 1187-1195. Nature Publishing Group
Central to tumor evolution is the generation of genetic diversity. However, the extent and patterns by which de novo karyotype alterations emerge and propagate within human tumors are not well understood, especially at single-cell resolution. Here, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651f73d2429a0f3686a912f64c06f306
https://doi.org/10.1038/s41588-021-00891-2
https://doi.org/10.1038/s41588-021-00891-2
Autor:
Monique E. Dijsselhof, Tom J. de Koning, Laura A. Tseng, Edward E. S. Nieuwenhuis, Elise A. Ferreira, Rachel Kassel, Margreet van den Born, Holger Rehmann, Sabine A. Fuchs, Gautam Kok, Imre F. Schene, Marie Canton, Suzanne W J Terheggen-Lagro, Arnaud Wiedemann, Joy Dean, Desiree E.C. Smith, Megan Boothe, Clara D.M. van Karnebeek, Gajja Salomons, François Feillet, Marisa I. Mendes
Publikováno v:
Genetics in Medicine
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-z
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group
Genetics in medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Kok, G, Tseng, L, Schene, I F, Dijsselhof, M E, Salomons, G, Mendes, M I, Smith, D E C, Wiedemann, A, Canton, M, Feillet, F, de Koning, T J, Boothe, M, Dean, J, Kassel, R, Ferreira, E A, van den Born, M, Nieuwenhuis, E E S, Rehmann, H, Terheggen-Lagro, S W J, van Karnebeek, C D M & Fuchs, S A 2021, ' Treatment of ARS deficiencies with specific amino acids ', Genetics in Medicine, vol. 23, no. 11, pp. 2202-2207 . https://doi.org/10.1038/s41436-021-01249-z
Genetics in Medicine, 23(11), 2202-2207. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2202-2207. Nature Publishing Group
Purpose: Recessive cytosolic aminoacyl-tRNA synthetase (ARS) deficiencies are severe multiorgan diseases, with limited treatment options. By loading transfer RNAs (tRNAs) with their cognate amino acids, ARS are essential for protein translation. Howe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2012eaffda71bfe00609b875bbfe5f2b
http://europepmc.org/articles/PMC8244667
http://europepmc.org/articles/PMC8244667
Autor:
Holger Rehmann, Graeme Barker, Haiying Chen, Stephen J. Yarwood, Jia Zhou, Boy van Basten, Jolanta Wiejak, Emma Lochhead, David Morgan, Padraic Whelan, Zhiqing Liu, Urszula Luchowska-Stańska, Pingyuan Wang
Publikováno v:
Journal of Medicinal Chemistry. 63:5159-5184
Exchange proteins directly activated by cAMP (EPAC) play a central role in various biological functions, and activation of the EPAC1 protein has shown potential benefits for the treatment of various human diseases. Herein, we report the synthesis and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6fbc6e7ea23a19108b7bae605c2b64b
https://doi.org/10.1021/acs.jmedchem.9b02094
https://doi.org/10.1021/acs.jmedchem.9b02094
Autor:
Floor Twiss, Quint Le Duc, Suzanne Van Der Horst, Hamid Tabdili, Gerard Van Der Krogt, Ning Wang, Holger Rehmann, Stephan Huveneers, Deborah E. Leckband, Johan De Rooij
Publikováno v:
Biology Open, Vol 1, Iss 11, Pp 1128-1140 (2012)
Summary Proper regulation of the formation and stabilization of epithelial cell–cell adhesion is crucial in embryonic morphogenesis and tissue repair processes. Defects in this process lead to organ malformation and defective epithelial barrier fun
Externí odkaz:
https://doaj.org/article/475896539af044ddabe3c8bb4d38de38
Autor:
Vincent Runtuwene, Mark van Eekelen, John Overvoorde, Holger Rehmann, Helger G. Yntema, Willy M. Nillesen, Arie van Haeringen, Ineke van der Burgt, Boudewijn Burgering, Jeroen den Hertog
Publikováno v:
Disease Models & Mechanisms, Vol 4, Iss 3, Pp 393-399 (2011)
SUMMARY Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras–mitogen-activated-protein-kinase
Externí odkaz:
https://doaj.org/article/917ce76435664510945a2a7b3336049e