Generation of an induced pluripotent stem cell line (UNCCi002-A) from a healthy donor using a non-integration system to study Cerebral Cavernous Malformation (CCM)

Autor: Alvaro A. Beltran, Sarahi G. Molina, Ariana Marquez, Lorena J. Munoz, Jose F. Olivares, Adriana S. Beltran

Publikováno v: Stem Cell Research, Vol 54, Iss , Pp 102421- (2021)

The generation of induced pluripotent stem cells (iPSCs) from healthy individuals is an invaluable resource as reference control in disease modeling and drug discovery. This paper details the reprogramming of peripheral blood mononuclear cells (PBMCs

Externí odkaz: https://doaj.org/article/af69897b9a094e00bfe5ac3d1d13dbce

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Autor: Jessica Becker, Julia Bay, Deepa Ajit, Sheryl S. Moy, Katja Kloth, Michael T. Zimmermann, Pilar Cacheiro, Ingrid M.B.H. van de Laar, Richard H. van Jaarsveld, Queenie K-G Tan, Adriana S. Beltran, Allyn McConkie-Rosell, Keith A. Breau, Laura Schultz-Rogers, Deike Weiss, Damaris N Lorenzo, Marie T. McDonald, Robert Jech, Paul R. Mark, Erin Torti, Richard E. Person, Benjamin Cogné, Renske Oegema, Eva H. Brilstra, Robert Stratton, Koen L.I. van Gassen, Reginald James Edwards, Rebecca C. Spillmann, Michael C. Stankewich, Amy Kritzer, Liset Falcon Rodriguez, Parul Jayakar, Joseph T. Shieh, Margot A. Cousin, Elizabeth A. Normand, Jennifer L. Kemppainen, Jennifer MacKenzie, Hartmut Engels, Marjon van Slegtenhorst, Evangeline Kurtz-Nelson, Tianyun Wang, Yue Si, Damian Smedley, Bertrand Isidor, Blake A Creighton, Vimla Aggarwal, Michael Zech, Alvaro A. Beltran, Stefan Aretz, Brenda Temple, Simone Afriyie, Sarah E McKeown, Louise Bier, Tatjana Bierhals, Grace Yoon, Juliane Winkelmann, Swarnendu Tripathi, Brendan C. Lanpher, Amy Blevins, Pavel N. Pichurin, Eric W. Klee, Kathryn M. Harper, Cecilia Fairley, Lauren Gunderson, Ingo Helbig, Sruthi Dontu, Kirsten Cremer, Raphael Bernier, Helen V. Firth, Gretchen Parsons, Lorena J. Munoz, Evan E. Eichler, Alison S May, Grazia M.S. Mancini

Publikováno v: Nature Genetics, 53(7), 1006-1021. Nature Publishing Group
Nature genetics
Nat. Genet. 53, 1006-1021 (2021)

SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, developmental delay and behavi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4874221589b63cb383656f262aebe07d
https://pure.eur.nl/en/publications/2512cc47-cfda-403d-a937-3ee0a59e175a