Zobrazeno 1 - 10
of 137
pro vyhledávání: '"Helip-Wooley A"'
Autor:
Gahl William A, Boissy Raymond E, Mommaas Mieke, Dorward Heidi, Westbroek Wendy, Helip-Wooley Amanda, Huizing Marjan
Publikováno v:
BMC Cell Biology, Vol 6, Iss 1, p 33 (2005)
Abstract Background Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis characterized by oculocutaneous albinism and prolonged bleeding. These clinical findings reflect defects in the formation of melanosomes in mel
Externí odkaz:
https://doaj.org/article/46962c1217794d0bb0dc43d925aa4984
Autor:
Westbroek, Wendy a, ⁎, Tuchman, Maya a, Tinloy, Bradford a, De Wever, Olivier b, Vilboux, Thierry a, Hertz, Jens M. c, Hasle, Henrik d, Heilmann, Carsten e, Helip-Wooley, Amanda a, Kleta, Robert a, 1, Gahl, William A. a
Publikováno v:
In Molecular Genetics and Metabolism June 2008 94(2):248-254
Autor:
Nazarian, Ramin a, Huizing, Marjan b, Helip-Wooley, Amanda b, Starcevic, Marta a, Gahl, William A. b, Dell’Angelica, Esteban C. a, ⁎
Publikováno v:
In Molecular Genetics and Metabolism 2008 93(2):134-144
Autor:
Helip-Wooley, Amanda 1, *, Westbroek, Wendy 1, Dorward, Heidi M. 1, Koshoffer, Amy 2, Huizing, Marjan 1, Boissy, Raymond E. 2, Gahl, William A. 1
Publikováno v:
In Journal of Investigative Dermatology June 2007 127(6):1471-1478
Autor:
Boissy, Raymond E. *, *, Richmond, Bonnie *, Huizing, Marjan †, Helip-Wooley, Amanda †, Zhao, Yang *, Koshoffer, Amy *, Gahl, William A. †
Publikováno v:
In The American Journal of Pathology 2005 166(1):231-240
Autor:
Gwynn, Babette, Martina, Jose A., Bonifacino, Juan S., Sviderskaya, Elena V., Lamoreux, M. Lynn, Bennett, Dorothy C., Moriyama, Kengo, Huizing, Marjan, Helip-Wooley, Amanda, Gahl, William A., Webb, Lisa S., Lambert, Amy J., Peters, Luanne L. *
Publikováno v:
In Blood 15 November 2004 104(10):3181-3189
Autor:
Helip-Wooley, Amanda *, Thoene, Jess G
Publikováno v:
In Experimental Cell Research 2004 292(1):89-100
Publikováno v:
In Molecular Genetics and Metabolism February 2002 75(2):128-133
Autor:
James G. White, Ben Pederson, William A. Gahl, Richard A. Hess, Amanda Helip-Wooley, Ashley Griffin, Marjan Huizing, Wendy Westbroek, Gretchen Golas, Kevin J. O'Brien, Ekaterini Tsilou, Heidi Dorward
Publikováno v:
Journal of Medical Genetics. 46:803-810
Background: In the last decade, Hermansky–Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to study the biogenesis of lysosome related organelles (LROs). Of the eight human HPS subtypes, only subtypes 1 through 5 are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3373c52e084564f30b37ad8ecac801e
https://doi.org/10.1136/jmg.2008.065961
https://doi.org/10.1136/jmg.2008.065961
Autor:
Wendy Westbroek, Amanda Helip-Wooley, R. Travis Moreland, Tyra G. Wolfsberg, Elizabeth Erickson, William A. Gahl, Horia Stanescu, Marjan Huizing, Mariam H. Ayub
Publikováno v:
Annals of Human Genetics. 73:422-428
HPS is an autosomal recessive disorder characterized by oculocutaneous albinism and prolonged bleeding. Eight human genes are described resulting in the HPS subtypes 1-8. Certain HPS proteins combine to form Biogenesis of Lysosome-related Organelles
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89419265fbbcc1e6c5cff8c7afbaa2f5
https://doi.org/10.1111/j.1469-1809.2009.00525.x
https://doi.org/10.1111/j.1469-1809.2009.00525.x