Zobrazeno 1 - 2
of 2
pro vyhledávání: '"pathology [Organoids]"'
Autor:
Ali Al Asmari, Emmanuelle Szenker-Ravi, Carine Bonnard, Bruno Reversade, Laura Schultz-Rogers, I. Kraegeloh-Mann, Maha Abdulrahim, Hesham Aldhalaan, Byrappa Venkatesh, Célia Bosso-Lefèvre, Aida Telegrafi, Hiyam M. Marzouqa, Gunaseelan Narayanan, Sha Tang, Sonal Mahida, Melanie A. Simpson, Fowzan S. Alkuraya, Michelle Eio, Eissa Faqeih, Renske Oegema, Sarah Weckhuysen, George Grady, Joseph J. Barycki, Mohammed Al-Owain, Lamyaa A. Jad, David A. Koolen, Marjon van Slegtenhorst, Tyler Mark Pierson, Marisa V. Andrews, Rebecca Schüle, Reinhard Keimer, Amber Begtrup, Sateesh Maddirevula, Michael Muriello, Sakkubai Naidu, Damien Haye, Adel A H Mahmoud, Brian Ciruna, Abdullah Tamim, Thong Teck Tan, Rolph Pfundt, Peter Bauer, Jiin Ying Lim, Ali Awaji, Marco Tartaglia, Meral Gunay-Aygun, Eric W. Klee, Marcia C. Willing, Monica Yau, Angelika Riess, Diego Martinelli, Sabina Barresi, Sumanty Tohari, Werner Deigendesch, Dirk Lefeber, Saumya Shekhar Jamuar, Ludger Schöls, Ralitza H. Gavrilova, Alvin Yu Jin Ng, Hannah Stamberger, Suleyman Gulsuner, Adam Claridge-Chang, Élise Lebigot, Moeenaldeen Al-Sayed, Ee Shien Tan, Kagistia Hana Utami, Sarah B. Pierce, Helene Verhelst, Hankun Li, James C. Stewart, Ingo Helbig, Tal Gilboa, Mahmoud A. Pouladi, Hagar Mor-Shaked, Boris Keren, Ajay S. Mathuru, Holger Hengel, Michèl A.A.P. Willemsen, Nader Handal, Tahsin Stefan Barakat, Sulwan M. Algain, Terrence Thomas, Lance H. Rodan, Mais Hashem, Wendy G. Mitchell
Publikováno v:
Nature communications, 11(1):595. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Nature Communications, 11. Nature Publishing Group
Nature Communications, 11
Nature communications, vol 11, iss 1
Nature Communications 11(1), 595 (2020). doi:10.1038/s41467-020-14360-7
Nature Communications, 11, 1
Nature communications
Nature Communications
NATURE COMMUNICATIONS
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73c2c7e1b70693539f410e6b9be36256
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-udpglucose-6dehydrogenase-cause-recessive-developmental-epileptic-encephalopathy(de2b99fa-dd10-4646-ac5b-a67868b9e177).html
Autor:
Manuela Völkner, Felix Wagner, Lisa Maria Steinheuer, Madalena Carido, Thomas Kurth, Ali Yazbeck, Jana Schor, Stephanie Wieneke, Lynn J. A. Ebner, Claudia Del Toro Runzer, David Taborsky, Katja Zoschke, Marlen Vogt, Sebastian Canzler, Andreas Hermann, Shahryar Khattak, Jörg Hackermüller, Mike O. Karl
Publikováno v:
Nature Communications 13(1), 6183 (2022). doi:10.1038/s41467-022-33848-y
Human organoids could facilitate research of complex and currently incurable neuropathologies, such as age-related macular degeneration (AMD) which causes blindness. Here, we establish a human retinal organoid system reproducing several parameters of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3db990db6d94b0c5a875b41b7c561426
https://pubmed.ncbi.nlm.nih.gov/36261438
https://pubmed.ncbi.nlm.nih.gov/36261438
