Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Marte G, Haug"'
Autor:
Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, Susanne Klute, Victoria Hunszinger, Lennart Koepke, Veronika Merold, Blaise Didry-Barca, Fanny Wondany, Tim Bergner, Tatiana Moreau, Mathieu P. Rodero, Reinhild Rösler, Sebastian Wiese, Stefano Volpi, Marco Gattorno, Riccardo Papa, Sally-Ann Lynch, Marte G. Haug, Gunnar Houge, Kristen M. Wigby, Jessica Sprague, Jerica Lenberg, Clarissa Read, Paul Walther, Jens Michaelis, Frank Kirchhoff, Carina C. de Oliveira Mann, Yanick J. Crow, Konstantin M. J. Sparrer
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)
Abstract Type I interferon (IFN) signalling is tightly controlled. Upon recognition of DNA by cyclic GMP-AMP synthase (cGAS), stimulator of interferon genes (STING) translocates along the endoplasmic reticulum (ER)-Golgi axis to induce IFN signalling
Externí odkaz:
https://doaj.org/article/b099f69003f848078aba66c1696bcd67
Autor:
Ida W, Sørensen, Ragnhild, Glad, Gunnar, Houge, Anne, Blomhoff, Marte G, Haug, Vidar M, Steen
Publikováno v:
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke. 141(2021-14)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7f597e1bba81044710c812627f1d6d86
https://pubmed.ncbi.nlm.nih.gov/34758600
https://pubmed.ncbi.nlm.nih.gov/34758600
Publikováno v:
Tidsskrift for Den norske legeforening.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd9b84ca81d6fb883567bfabef39a054
https://doi.org/10.4045/tidsskr.21.0424
https://doi.org/10.4045/tidsskr.21.0424
Publikováno v:
Tidsskrift for Den norske legeforening.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::61f7cfbcd54c6d13affb406edb9e4269
https://doi.org/10.4045/tidsskr.21.0728
https://doi.org/10.4045/tidsskr.21.0728
Autor:
Francesc Palau, Flavio Faltera, Shivarajan M. Amudhavalli, Katherine B. Burke, Nicolas Derive, Charlotte von der Lippe, Andrew E. Fry, Kristian Tveten, Médéric Jeanne, Deborah Osio, Øyvind L. Busk, Roser Urreitzi, Julia Baptista, Ana S.A. Cohen, Wenche Moe Thorstensen, Trine Prescott, Frédérique Bonnet-Brilhault, Jonathan Levy, Séverine Drunat, Derek Lim, Jennifer Evans, Janet Hoenicka, Irene Bruno, Øystein L. Holla, Francis H. Sansbury, Carol Macmillan, Marte G. Haug, Stephen Jolles, Salvador Climent, Dihong Zhou, Kendra Engleman
Publikováno v:
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-FISABIO. Repositorio Institucional de Producción Científica
instname
r-FISABIO. Repositorio Institucional de Producción Científica
instname
By clinical whole exome sequencing, we identified 12 individuals with ages 3 to 37 years, including three individuals from the same family, with a consistent phenotype of intellectual disability (ID), macrocephaly, and overgrowth of adenoid tissue. A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2690edd2326af1407fc1e87bfc7676a
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12015
https://fundanet.fisabio.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=12015
Publikováno v:
Clinical Case Reports
Key Clinical Message We report a Norwegian girl with mild clinical features of Kagami–Ogata syndrome (KOS) and mosaic upd(14)pat. To our knowledge, this is the first report describing a mosaic patient with KOS. These results imply that mosaic unipa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2191aa3b4f92424e19a1f2c53022bfb1
https://doi.org/10.1002/ccr3.1300
https://doi.org/10.1002/ccr3.1300
Autor:
Per M. Knappskog, Siren Berland, Cecilie Bredrup, Hilde E. Rusaas, Ingvild Aukrust, Gunnar Houge, Marte G. Haug, Agnete Jørgensen, Ragnhild Wivestad Jansson, Eyvind Rødahl
Publikováno v:
Acta ophthalmologica. 95(3)
Purpose Despite being the third most common ABCA4 variant observed in patients with Stargardt disease, the functional effect of the intronic ABCA4 variant c.5461-10T>C is unknown. The purpose of this study was to investigate the molecular effect of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411dd3139298372435635c65602407bf
https://pubmed.ncbi.nlm.nih.gov/27775217
https://pubmed.ncbi.nlm.nih.gov/27775217