Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Karen L Simon"'
Autor:
Tadafumi Yokoyama, Ayumi Yoshizaki, Karen L Simon, Martha R Kirby, Stacie M Anderson, Fabio Candotti
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0139729 (2015)
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by recurrent infections, thrombocytopenia, eczema, and high incidence of malignancy and autoimmunity. The cellular mechanisms underlying autoimmune complicat
Externí odkaz:
https://doaj.org/article/0696af353f0c4ff984cf75ae08eabd1b
Autor:
Marjan Huizing, Melanie M. Bryan, Robert B. Hufnagel, Nathanial J. Tolman, Vladislav V. Speransky, Bernadette R. Gochuico, May Christine V. Malicdan, Karen L. Simon, Brian P. Brooks, James C. Mullikin, William A. Gahl
Publikováno v:
Molecular Genetics and Metabolism. 120:378-383
Purpose Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8314ee5a8696648bc740eb683d0847e
https://doi.org/10.1016/j.ymgme.2017.02.007
https://doi.org/10.1016/j.ymgme.2017.02.007
Autor:
David R. Adams, Carlos Ferreira, Meral Gunay-Aygun, Shirley M. Abraham, Karen L. Simon, Thomas C. Markello, May Christine V. Malicdan, William A. Gahl, Dong Chen
Publikováno v:
Molecular Genetics and Metabolism. 120:288-294
Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65a13a971629a67407db25c500a1643b
https://doi.org/10.1016/j.ymgme.2016.12.006
https://doi.org/10.1016/j.ymgme.2016.12.006
Autor:
Vladislav V. Speransky, Jay N. Lozier, Karen L. Simon, Bernadette R. Gochuico, Wadih M. Zein, Khanh Nghiem, Kevin J. O'Brien, Anne T. Neff, Andrew R. Cullinane, Brigitte Osorio, Lisa R. Young, May Christine V. Malicdan, James C. Mullikin, William A. Gahl
Publikováno v:
Molecular Genetics and Metabolism. 119:284-287
Purpose Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4ee52936d7ac136583b165d7889a94
https://doi.org/10.1016/j.ymgme.2016.08.009
https://doi.org/10.1016/j.ymgme.2016.08.009
Autor:
Kevin Bishop, Axel Schambach, Giancarlo la Marca, Martha Kirby, Thorsten M. Schlaeger, MaryPat Jones, Fabio Candotti, Luigi D. Notarangelo, Yuval Itan, Waleed Al-Herz, Settara C. Chandrasekharappa, Kerstin Felgentreff, Kerry Dobbs, Raman Sood, Alex Devine, Elisa Giocaliere, Stephen Wincovitch, Jayashree Jagadeesh, Karen L. Simon, Alberto Rissone, Katja G. Weinacht
Publikováno v:
The Journal of Experimental Medicine
Journal of Experimental Medicine, vol. 212, no. 8, pp. 1185-1202
Journal of Experimental Medicine, vol. 212, no. 8, pp. 1185-1202
Rissone et al. demonstrate that adenylate kinase AK2, an enzyme mutated in reticular dysgenesis (RD) in humans, prevents oxidative stress during hematopoiesis. Using a zebrafish model, as well as induced pluripotent stem cells derived from an RD pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1845629b2c7b7aeb3e2bdca2ae83fc71
http://europepmc.org/articles/PMC4516804
http://europepmc.org/articles/PMC4516804
Autor:
Charles J. Billington, Roxanne Fischer, Ann C.M. Smith, William A. Gahl, Thierry Vilboux, Nisc Comparative Sequencing Program, Carla Ciccone, Andrea L. Gropman, James C. Mullikin, Seth I. Berger, Karen L. Simon, Wendy J. Introne, May Christine V. Malicdan, Marjan Huizing, Jan Blancato
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4742c0929320a0d4f93826681047aa6
https://europepmc.org/articles/PMC5848494/
https://europepmc.org/articles/PMC5848494/
Autor:
Divya Punwani, Amalia Dutra, Karen L. Simon, Youngnim Choi, Jenny Y. Zhang, Martin S. Naradikian, Evgenia Pak, Diana Gonzalez-Espinosa, Chang-Hwa Song, David M. Bodine, Jennifer M. Puck
Publikováno v:
The Journal of Immunology. 189:1253-1264
Absent T lymphocytes were unexpectedly found in homozygotes of a transgenic mouse from an unrelated project. T cell development did not progress beyond double-negative stage 1 thymocytes, resulting in a hypocellular, vestigial thymus. B cells were pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6505f61b3625cf3c2328722d267c510
https://doi.org/10.4049/jimmunol.1200623
https://doi.org/10.4049/jimmunol.1200623
Autor:
Laurent Abel, Corinne Demerens-de Chappedelaine, James C. Mullikin, Fabio Candotti, Alina Ferster, Vincent Michel, Andrea Ditadi, Capucine Picard, Christine Petit, Estelle Morillon, NM Wulffraat, Marina Cavazzana-Calvo, Céline Besse, Emmanuelle Six, Lenora M. Noroski, Karen L. Simon-Stoos, Chantal Lagresle-Peyrou, Alain Fischer, Manuel Abecasis, Frédéric Rieux-Laucat, Françoise Valensi, Fabien Calvo
Publikováno v:
Nature Genetics. 41:106-111
Human adenylate kinase 2 deficiency causes the most profound human haematopoietic defect associated with sensorineural deafness. Reticular dysgenesis (RD) is an autosomal recessive form of human severe combined immunodeficiency (SCID) characterized b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fa23863c099d6729f4de309168c60aa
https://doi.org/10.1038/ng.278
https://doi.org/10.1038/ng.278
Autor:
Ayumi Yoshizaki, Martha Kirby, Tadafumi Yokoyama, Fabio Candotti, Stacie M. Anderson, Karen L. Simon
Publikováno v:
Plos One, vol. 10, no. 10, pp. e0139729
PLoS ONE, Vol 10, Iss 10, p e0139729 (2015)
PLoS ONE
PLoS ONE, Vol 10, Iss 10, p e0139729 (2015)
PLoS ONE
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by recurrent infections, thrombocytopenia, eczema, and high incidence of malignancy and autoimmunity. The cellular mechanisms underlying autoimmune complicat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f42af01d0e94c1507375de942da127
https://serval.unil.ch/resource/serval:BIB_E2770578213B.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_E2770578213B.P001/REF.pdf
Autor:
Adrianna Herrera, Fabio Candotti, Makoto Otsu, Nancy E. Seidel, Guillermo J. Avilés Mendoza, David M. Bodine, Stacie M. Anderson, Karen L. Simon-Stoos, Harry L. Malech, Shelley Hoogstraten-Miller, Jennifer M. Puck
Publikováno v:
Molecular Therapy. 3(4):565-573
X-linked severe combined immunodeficiency (XSCID) is caused by mutations in the IL-2 receptor gamma chain (IL2RG) gene, resulting in absent T lymphocytes and nonfunctional B lymphocytes. Recently T lymphocyte production and B lymphocyte function were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f44a0b7a61388294daf92d2ee3c0124