Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hilal Piril Saracoglu"'
Autor:
Yeliz Guven, Hilal Piril Saracoglu, Sermin Dicle Aksakal, Tugba Kalayci, Umut Altunoglu, Zehra Oya Uyguner, Serpil Eraslan, Esra Borklu, Hulya Kayserili
Publikováno v:
BMC Oral Health, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Background Nance–Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features. Case presentation We report on five af
Externí odkaz:
https://doaj.org/article/25cccf58b36b418c8405150e53b89d49
Publikováno v:
Psychiatry and Clinical Psychopharmacology, Vol 31, Iss 1, Pp 48-59 (2021)
Externí odkaz:
https://doaj.org/article/29e74546171f4c4da0ea5254d665f702
Publikováno v:
Psychiatry and Clinical Psychopharmacology
Psychiatry and Clinical Psychopharmacology, Vol 31, Iss 1, Pp 48-59 (2021)
Psychiatry and Clinical Psychopharmacology, Vol 31, Iss 1, Pp 48-59 (2021)
Objective: glioblastoma is the most malicious type of glioma presenting a genetic background via diverse mutations and exhibits differential sensitivity to treatment. Meanwhile, schizophrenia is a heterogeneous disease with a complex etiology. Studie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2319d1024c992ed6e753cb8bb9bae5a3
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/10524
http://cdm21054.contentdm.oclc.org/cdm/ref/collection/IR/id/10524
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5