Direct induction of microtubule branching by microtubule nucleation factor SSNA1

Autor: Christian Biertümpfel, Giovanni Cardone, Naoko Mizuno, Alvaro H. Crevenna, Satish Bodakuntla, Thomas Schlichthaerle, Hana Nedozralova, Carsten Janke, Maria M. Magiera, Michael Taschner, Nirakar Basnet, Ralf Jungmann

Publikováno v: Nature Cell Biology
Nature Cell Biology, Nature Publishing Group, 2018, ⟨10.1038/s41556-018-0199-8⟩
Nature cell biology
Nature cell biology, vol. 20, no. 10, pp. 1172-1180

International audience; Microtubules are central elements of the eukaryotic cytoskeleton that often function as part of branched networks. Current models for branching include nucleation of new microtubules from severed microtubule seeds or from gamm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b63531e5f5a41fe085d071ced02502e
https://hal.archives-ouvertes.fr/hal-02375742

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ

Autor: Nicholas, Adeline K, Serra, Eva G, Cangul, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M, Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, Saglam, Halil, Bober, Ece, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G, Babiker, Amir, Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H, Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F, Gregory, John W, Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard, Brugger, Kim, Maher, Eamonn R, Chatterjee, V Krishna K, Anderson, Carl A, Schoenmakers, Nadia

Publikováno v: The Journal of Clinical Endocrinology and Metabolism
Nicholas, A K, Serra, E G, Cangul, H, Alyaarubi, S, Ullah, I, Schoenmakers, E, Deeb, A, Habeb, A M, Almaghamsi, M, Peters, C, Nathwani, N, Aycan, Z, Saglam, H, Bober, E, Dattani, M, Shenoy, S, Murray, P G, Babiker, A, Willemsen, R, Thankamony, A, Lyons, G, Irwin, R, Padidela, R, Tharian, K, Davies, J H, Puthi, V, Park, S-M, Massoud, A F, Gregory, J W, Albanese, A, Pease-Gevers, E, Martin, H, Brugger, K, Maher, E R, Chatterjee, V K K, Anderson, C A & Schoenmakers, N 2016, ' Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ ', The Journal of Clinical Endocrinology and Metabolism, vol. 101, no. 12, pp. 4521-4531 . https://doi.org/10.1210/jc.2016-1879

Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes or TSHR underlie some cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0db38b423aebd37dd442bfb2eec37222
https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oai

Degeneracy of Antigen Recognition as the Molecular Basis for the High Frequency of Naive A2/Melan-A Peptide Multimer+ CD8+ T Cells in Humans

Autor: Valérie Dutoit, Verena Rubio-Godoy, Mikäel J. Pittet, Alfred Zippelius, Pierre-Yves Dietrich, Frédérique Anne Legal, Philippe Guillaume, Pedro Romero, Jean-Charles Cerottini, Richard A. Houghten, Clemencia Pinilla, Danila Valmori

Publikováno v: The Journal of Experimental Medicine
Journal of Experimental Medicine, vol. 196, no. 2, pp. 207-216

In contrast with the low frequency of most single epitope reactive T cells in the preimmune repertoire, up to 1 of 1,000 naive CD8+ T cells from A2+ individuals specifically bind fluorescent A2/peptide multimers incorporating the A27L analogue of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c77dd6e04da114018e2810e8f6e41c7
http://europepmc.org/articles/PMC2193921

Genes of Type 2 Diabetes in β Cells

Autor: Trajkovski, Mirko, Mziaut, Hassan, Schwarz, Peter E., Solimena, Michele

Publikováno v: Endocrinology and metabolism clinics of North America, Vol. 35, No 2 (2006) pp. 357-369

Type 2 diabetes is a complex polygenic metabolic disorder of epidemic proportions. This review provides a brief overview of the susceptibility genes in type 2 diabetes that primarily affect pancreatic 3 cells, with emphasis on their function and most

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1400::2c810659073a60fb4d04093fee9fb1ec
https://archive-ouverte.unige.ch/unige:158931

Multiple Correcting COL17A1 Mutations in Patients with Revertant Mosaicism of Epidermolysis Bullosa

Autor: Anna M.G. Pasmooij, Hendri H. Pas, Marcel F. Jonkman, Franciska C.L. Deviaene, Miranda Nijenhuis

Revertant mosaicism by somatic reversion of inherited mutations has been described for a number of genetic diseases. Several mechanisms can underlie this reversion process, such as gene conversion, crossing-over, true back mutation, and second-site m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98136bb42850aa05adb5fcb5f06e896d
https://europepmc.org/articles/PMC1271383/