Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Lea Urpa"'
Autor:
Katja Häkkinen, Wilma Kiander, Heidi Kidron, Markku Lähteenvuo, Lea Urpa, Jonne Lintunen, Kati-Sisko Vellonen, Seppo Auriola, Minna Holm, Kaisla Lahdensuo, Olli Kampman, Erkki Isometsä, Tuula Kieseppä, Jouko Lönnqvist, Jaana Suvisaari, Jarmo Hietala, Jari Tiihonen, Aarno Palotie, Ari V. Ahola-Olli, Mikko Niemi
Publikováno v:
Molecular Pharmaceutics. 20:1500-1508
Variants in the SLCO1B1 (solute carrier organic anion transporter family member 1B1) gene encoding the OATP1B1 (organic anion transporting polypeptide 1B1) protein are associated with altered transporter function that can predispose patients to adver
Autor:
Wilma Kiander, Jonne Lintunen, Markku Lähteenvuo, Minna Holm, Lea Urpa, Heidi Kidron, Katja Häkkinen
AimVariants in the SLCO1B1 (solute carrier organic anion transporter family member 1B1) gene encoding the OATP1B1 (organic anion transporting polypeptide 1B1) protein are associated with altered transporter function that can predispose patients to ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::aa14dd489ccd6be92e453ec60518bc67
https://doi.org/10.1101/2022.08.10.22278615
https://doi.org/10.1101/2022.08.10.22278615
Autor:
Lea Urpa, Mitja Kurki, Tarjinder Singh, Eijä Hämäläinen, Elisa Rahikkala, Jukka Moilanen, Jarmo Körkkö, Outi Kuismin, Olli Pietiläinen, Mark Daly, Aarno Palotie
Publikováno v:
European Neuropsychopharmacology. 63:e45
Autor:
Elisa Rahikkala, Lea Urpa, Bishwa Ghimire, Hande Topa, Mitja I. Kurki, Maryna Koskela, Mikko Airavaara, Eija Hämäläinen, Katri Pylkäs, Jarmo Körkkö, Helena Savolainen, Anu Suoranta, Aida Bertoli-Avella, Arndt Rolfs, Pirkko Mattila, Mark Daly, Aarno Palotie, Olli Pietiläinen, Jukka Moilanen, Outi Kuismin
Publikováno v:
European journal of human genetics : EJHG. 30(5)
Biallelic loss-of-function variants in the SMG9 gene, encoding a regulatory subunit of the mRNA nonsense-mediated decay (NMD) machinery, are reported to cause heart and brain malformation syndrome. Here we report five patients from three unrelated fa