Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Amy Pitstick"'
Autor:
Saumel Ahmadi, Chong Jiang, Daniela Rotin, Jia Xin Jiang, Sunny Xia, Zoltan Bozoky, Michelle DiPaola, Onofrio Laselva, Nicola L. Jones, Christopher N. Mayhew, Christine E. Bear, Amy Pitstick
Induced Pluripotent Stem Cells (iPSCs) can be differentiated into epithelial organoids that recapitulate the relevant context for CFTR and enable testing of therapies targeting Cystic Fibrosis (CF)-causing mutant proteins. However, to date, CF-iPSC-d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb30074a99bc629df9ef0b2035f27685
https://doi.org/10.1101/2021.07.07.451180
https://doi.org/10.1101/2021.07.07.451180
Autor:
Wouter de Laat, Yiwen Zhu, Iris Barshack, Corina Hartman, Devin Coleman-Derr, Christopher N. Mayhew, Robert Kleta, E.K. Ruzzo, Diane E. Dickel, Brian L. Black, James M. Wells, Ralston M. Barnes, E.S. Vos, Ifat Bar-Joseph, Matthew F. Kuhar, Yair Anikster, Horia Stanescu, Roni Milgrom, Pavlo Tatarskyy, David Goldstein, Amy Pitstick, Haike Reznik-Wolf, Marco Osterwalder, Axel Visel, Mehmet Tekman, Denise M. Imai, Raanan Shamir, Ben Pode-Shakked, Len A. Pennacchio, Danit Oz-Levi, Kelly Lammerts van Bueren, Rivka Shapiro, Iros Barozzi, Yujun Han, Dina Marek-Yagel, Tsviya Olender, Anna Alkelai, Veena Afzal, Elon Pras, Batia Weiss, Alexander Nord, Michael Schvimer, Doron Lancet
Publikováno v:
Nature, vol 571, iss 7763
Nature, 571(7763), 107-111. Nature Publishing Group
Nature, 571(7763), 107-111. Nature Publishing Group
Large-scale genome sequencing is poised to provide a substantial increase in the rate of discovery of disease-associated mutations, but the functional interpretation of such mutations remains challenging. Here we show that deletions of a sequence on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fb3250bb97b0f0a5cf26e8daa676462
https://doi.org/10.1038/s41586-019-1312-2
https://doi.org/10.1038/s41586-019-1312-2
Autor:
Rolf W. Stottmann, Beth M. Kline-Fath, Christopher N. Mayhew, Amy Pitstick, Ashley M. Driver, Howard M. Saal
Mutations in tubulins have been implicated in numerous human neurobiological disorders collectively known as “tubulinopathies.” We identified a patient with severe cortical dysgenesis and a novel de novo heterozygous missense mutation in Tubulin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c16583ee6d8bb371db3ce6c3a0a17358
Autor:
Yana Zavros, James A. Wells, Nina Steele, Amy Pitstick, Jayati Chakrabarti, Taylor Broda, Mario Medvedovic, Jacek Biesiada, Loryn Holokai, Christopher N. Mayhew
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::730883618582f7dba4ca7b1d1742487d
https://publons.com/wos-op/publon/51863693/
https://publons.com/wos-op/publon/51863693/