Effect of molybdenum, aluminium and boron on the phase transformation in 4 ​wt.–% manganese steels

Autor: A. Gramlich, C. van der Linde, M. Ackermann, W. Bleck

Publikováno v: Results in Materials, Vol 8, Iss , Pp 100147- (2020)

The transformation behavior of medium manganese steels after forging has been characterized using dilatometry in order to investigate the influence of the alloying elements. The alloys contain 4 ​wt.–% manganese, 0.5 ​wt.–% silicon, 0.035 ​

Externí odkaz: https://doaj.org/article/ff9efb13bac34409b7cebd7024061d76

The long Filamin-A isoform is required for intestinal development and motility

Autor: Almira Zada, Yuying Zhao, Danny Halim, Jonathan Windster, Herma C van der Linde, Jackleen Glodener, Sander Overkleeft, Bianca M de Graaf, Robert M Verdijk, Alice S Brooks, Iain Shepherd, Ya Gao, Alan J Burns, Robert M W Hofstra, Maria M Alves

Publikováno v: Human Molecular Genetics, 32(1), 151-160. Oxford University Press

Filamin A (FLNA) is a cytoplasmic actin binding protein, recently shown to be expressed as a long and short isoform. Mutations in FLNA are associated with a wide spectrum of disorders, including an X-linked form of chronic intestinal pseudo-obstructi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddd554831ef6b13a7f29c3f597be41f9
https://doi.org/10.1093/hmg/ddac199

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

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

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

Reverse genetic screen reveals that Il34 facilitates yolk sac macrophage distribution and seeding of the brain

Autor: Laura E. Kuil, Nynke Oosterhof, Samuël N. Geurts, Herma C. van der Linde, Erik Meijering, Tjakko J. van Ham

Publikováno v: Disease Models & Mechanisms, Vol 12, Iss 3 (2019)

Microglia are brain-resident macrophages, which have specialized functions important in brain development and in disease. They colonize the brain in early embryonic stages, but few factors that drive the migration of yolk sac macrophages (YSMs) into

Externí odkaz: https://doaj.org/article/8e394d2385964afda6c5e0cd578cd7ba

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Autor: Eskeatnaf Mulugeta, Eva Medico Salsench, Elena Perenthaler, Herma C. van der Linde, Anita Nikoncuk, Ruizhi Deng, Kristina Lanko, Soheil Yousefi, Tahsin Stefan Barakat, Tjakko J. van Ham

Publikováno v: Genome Medicine, 13(1):162. BioMed Central Ltd.
Genome Medicine
Genome Medicine, Vol 13, Iss 1, Pp 1-27 (2021)

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 susceptibl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c5a470c2258f83836b09c2b97016f6
http://www.scopus.com/inward/record.url?scp=85117573363&partnerID=8YFLogxK