Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model

Autor: Sage, Liz, Russo, Melissa L., Byers, Peter H., Demasi, John, Morris, Shaine A., Puryear, Lauren N., Fulton, Daphne S., Shalhub, Sherene

Publikováno v: In Journal of Vascular Surgery October 2020 72(4):1436-1444

A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis

Autor: Shalhub, Sherene, Byers, Peter H., Hicks, Kelli L., Coleman, Dawn M., Davis, Frank M., De Caridi, Giovanni, Weaver, K. Nicole, Miller, Erin M., Schermerhorn, Marc L., Shean, Katie, Oderich, Gustavo, Ribeiro, Mauricio, Nishikawa, Cole, Charlton-Ouw, Kristofer, Behrendt, Christian-Alexander, Debus, E. Sebastian, von Kodolitsch, Yskert, Zarkowsky, Devin, Powell, Richard J., Pepin, Melanie, Milewicz, Dianna M., Regalado, Ellen S., Lawrence, Peter F., Woo, Karen

Publikováno v: In Journal of Vascular Surgery January 2020 71(1):149-157

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Gene Targeting in Stem Cells from Individuals with Osteogenesis Imperfecta

Autor: Chamberlain, Joel R., Schwarze, Ulrike, Wang, Pei-Rong, Hirata, Roli K., Hankenson, Kurt D., Pace, James M., Underwood, Robert A., Song, Kit M., Sussman, Michael, Byers, Peter H., Russell, David W.

Publikováno v: Science, 2004 Feb . 303(5661), 1198-1201.

Externí odkaz: https://www.jstor.org/stable/3836299

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

Autor: Pujol-Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E, Albano, Giuseppe, Miller, Danny E, Allworth, Aimee, Bennett, James T, Byers, Peter H, Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B, Gillentine, Madelyn A, Glass, Ian, Hing, Anne, Horike-Pyne, Martha, Leppig, Kathleen A, Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H, Rosenthal, Elisabeth A, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P, Timms, Andrew, Wener, Mark, Bamshad, Michael J, Hisama, Fuki M, Jarvik, Gail P, Dipple, Katrina M, Hediger, Matthias A., Stergachis, Andrew B

Publikováno v: Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; ... (2023). Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Annals of Clinical and Translational Neurology, 10(6), pp. 1046-1053. Wiley 10.1002/acn3.51786

SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91dee6119423b716769f7770e70a9029
https://boris.unibe.ch/182661/1/Ann_Clin_Transl_Neurol_-_2023_-_Pujol_Gim_nez_-_Dominant_negative_variant_in_SLC1A4_causes_an_autosomal_dominant_epilepsy.pdf