Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Carolina Maya-Gonzalez"'
Autor:
Eriko Koshimizu, Loora Laan, Ambrin Fatima, Yoshiko Murakami, Takayoshi Koike, Junpei Tanigawa, Uzma Abdullah, Muhammad Akhtar Ali, Maarika Liik, Talia Akram, Mitsuhiro Kato, Casimiro Castillejo-López, Shahid Mahmood Baig, Naomichi Matsumoto, Boris Keren, Joakim Klar, Zafar Ali, Jan Hoeber, Zhe Jin, Satoko Miyatake, Jens Schuster, Niklas Dahl, Cyril Mignot, Bryndis Birnir, Rein Fadoul, Carolina Maya-Gonzalez
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2021.02.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2021.02.015⟩
International audience; Neurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df64441b98868fc0dc51bfb34b05df73
https://hal.sorbonne-universite.fr/hal-03169302/file/mmc2.pdf
https://hal.sorbonne-universite.fr/hal-03169302/file/mmc2.pdf
Autor:
Carolina Maya-González, Sandra Wessman, Kristina Lagerstedt-Robinson, Fulya Taylan, Bianca Tesi, Ekaterina Kuchinskaya, W. Glenn McCluggage, Anna Poluha, Stefan Holm, Ricard Nergårdh, Teresita Díaz De Ståhl, Charlotte Höybye, Giorgio Tettamanti, Angelica Maria Delgado-Vega, Anna Skarin Nordenvall, Ann Nordgren
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Prader-Willi syndrome (PWS) is a rare disease caused by a lack of expression of inherited imprinted genes in the paternally derived Prader-Willi critical region on chromosome 15q11.2-q13. It is characterized by poor feeding and hypotonia in infancy,
Externí odkaz:
https://doaj.org/article/4621862bc38343c7ac090d169ff55210