Abstracts from the 50th European Society of Human Genetics Conference: Oral Presentations

Autor: F. U. Basmanav, David J. P. Ferguson, Guy Serre, Aline Büchner, Susannah Mary Creighton George, Damian J. Ralser, H. Wiegmann, Vinzenz Oji, Sabrina Wolf, F. Valentin, Ulrike Blume-Peytavi, Eli Sprecher, Anette Bygum, Laura Cau, Henning Hamm, Peter Nuernberg, Marie-Claire Méchin, Aylar Tafazzoli, Regina C. Betz, Maria Teresa Romano, Nicola Wagner, Arzu Kiliç, N. Garcia Bartels, Lisa Weibel, Michel Simon, Anne Huchenq, Paul Farrant, Janine Altmueller, Ramon Grimalt, Holger Thiele

Publikováno v: Eur J Hum Genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d019bec073465569dbb3c89a55f498a9
https://doi.org/10.1038/s41431-018-0249-5

Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome

Autor: Basmanav, F. U., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M., Valentin, F., Wiegmann, H., Huchenq, A., Bartels, N. Garcia, Kilic, A., George, S., Ralser, D. J., Ferguson, D. J., Thiele, H., Altmueller, J., Nuernberg, P., Buchner, A., Weibel, L., Wagner, N., Grimalt, R., Bygum, A., Serre, G., Blume-Peytavi, U., Sprecher, E., Oji, V., Hamm, H., Farrant, P., Simon, M., Betz, R. C.

Publikováno v: Basmanav, F U, Cau, L, Tafazzoli, A, Mechin, M, Wolf, S, Romano, M, Valentin, F, Wiegmann, H, Huchenq, A, Bartels, N G, Kilic, A, George, S, Ralser, D J, Ferguson, D J, Thiele, H, Altmueller, J, Nuernberg, P, Buchner, A, Weibel, L, Wagner, N, Grimalt, R, Bygum, A, Serre, G, Blume-Peytavi, U, Sprecher, E, Oji, V, Hamm, H, Farrant, P, Simon, M & Betz, R C 2019, ' Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome ', European Journal of Human Genetics, vol. 26, no. S, C05.1, pp. 45-46 . https://doi.org/10.1038/s41431-018-0249-5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3062::1b13071a41236e48abdaaa1e8564b9f6
https://portal.findresearcher.sdu.dk/da/publications/859a0a6d-2db1-495f-aaf3-cb116f75873a

PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier

Autor: Vanessa Soldan, Guy Serre, Nathalie Jonca, M. Pichery, Roger Sandhoff, Emeline Lhuillier, Annabel Maruani, M. Severino-Freire, Justine Bertrand-Michel, Sarra Zaafouri, Juliette Mazereeuw-Hautier, Anne Huchenq, Thierry Levade, Lukáš Opálka

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2017, 26 (10), pp.1787-1800. ⟨10.1093/hmg/ddx079⟩
Human Molecular Genetics, 2017, 26 (10), pp.1787-1800. ⟨10.1093/hmg/ddx079⟩

International audience; Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of monogenic genodermatoses that encompasses non-syndromic disorders of keratinization. The pathophysiology of ARCI has been linked to a disturbance in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f3fdd1c0bfdd9559afe5687baa240b0
https://hal-univ-tlse3.archives-ouvertes.fr/hal-03156211

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Evolution of T cell receptor (TCR) α β heterodimer assembly with the CD3 complex

Autor: Anne Huchenq-Champagne, Jacques Arnaud, B. Rubin, Chen-lo H. Chen, Cécile Gouaillard

Publikováno v: European Journal of Immunology. 31:3798-3805

T cell antigen receptors (TCR) are composed of an antigen-recognizing unit, the TCRα β heterodimer, and a signal transduction ensemble, the CD3 complex. Whereas mammals possess three CD3 dimers (δ ϵ , γ ϵ , and ζ 2), birds and amphibians have

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0dab625f4a2034f4c7c1340e83653beb
https://doi.org/10.1002/1521-4141(200112)31:12<3798::aid-immu3798>3.0.co