Zobrazeno 1 - 10
of 394
pro vyhledávání: '"William R Wilcox"'
Autor:
Lisa Salazar, Tamara Kashiwada, Pavel Krejci, April N Meyer, Malcolm Casale, Matthew Hallowell, William R Wilcox, Daniel J Donoghue, Leslie Michels Thompson
Publikováno v:
PLoS ONE, Vol 9, Iss 1, p e86470 (2014)
Cancer is a major public health problem worldwide. In the United States alone, 1 in 4 deaths is due to cancer and for 2013 a total of 1,660,290 new cancer cases and 580,350 cancer-related deaths are projected. Comprehensive profiling of multiple canc
Externí odkaz:
https://doaj.org/article/60a18b4f04b5441ba8513893423db09c
Autor:
Pavel Krejci, Anie Aklian, Marketa Kaucka, Eva Sevcikova, Jirina Prochazkova, Jan Kukla Masek, Pavol Mikolka, Tereza Pospisilova, Tereza Spoustova, MaryAnn Weis, William A Paznekas, Joshua H Wolf, J Silvio Gutkind, William R Wilcox, Alois Kozubik, Ethylin Wang Jabs, Vitezslav Bryja, Lisa Salazar, Iva Vesela, Lukas Balek
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e35826 (2012)
Receptor tyrosine kinase signaling cooperates with WNT/β-catenin signaling in regulating many biological processes, but the mechanisms of their interaction remain poorly defined. We describe a potent activation of WNT/β-catenin by FGFR2, FGFR3, EGF
Externí odkaz:
https://doaj.org/article/c0182a0e9b1847789602f32735b60daf
Autor:
Pavel Krejci, Lisa Salazar, Tamara A Kashiwada, Katarina Chlebova, Alena Salasova, Leslie Michels Thompson, Vitezslav Bryja, Alois Kozubik, William R Wilcox
Publikováno v:
PLoS ONE, Vol 3, Iss 12, p e3961 (2008)
Activating mutations in FGFR3 tyrosine kinase cause several forms of human skeletal dysplasia. Although the mechanisms of FGFR3 action in cartilage are not completely understood, it is believed that the STAT1 transcription factor plays a central role
Externí odkaz:
https://doaj.org/article/05d9a687bded42dbbc7fcef01db7e7b0
Autor:
Kathryn Elkins, Angela Wittenauer, Arthur F. Hagar, Rachel Logan, Elizabeth Sekul, Yijin Xiang, Sumit Verma, William R. Wilcox
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:187-196
The purpose of this study is to provide the results of the newborn screening (NBS) program for Spinal Muscular Atrophy (SMA) in the state of Georgia to determine disease incidence, time to diagnosis and treatment, and early outcomes. NBS for SMA was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66a0a0e7906b7230925b9ba922b0eb9a
https://doi.org/10.1002/ajmg.c.32003
https://doi.org/10.1002/ajmg.c.32003
Autor:
Robert J. Hopkin, Gustavo H. Cabrera, John L. Jefferies, Meng Yang, Elvira Ponce, Eva Brand, Ulla Feldt-Rasmussen, Dominique P. Germain, Nathalie Guffon, Ana Jovanovic, Ilkka Kantola, Amel Karaa, Ana M. Martins, Camilla Tøndel, William R. Wilcox, Han-Wook Yoo, Alessandro P. Burlina, Michael Mauer
Publikováno v:
Molecular Genetics and Metabolism
Background Clinical manifestations of classic Fabry disease (α-galactosidase A deficiency) usually occur in childhood, while complications involving major organs typically develop in adulthood. Outcomes of Fabry-specific treatment among young patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::626212e9196b792ddb0cee26da2d2fc6
https://hdl.handle.net/11250/3058803
https://hdl.handle.net/11250/3058803
Publikováno v:
Parkinsonism Relat Disord
Background The AARS2 gene encodes a mitochondrial alanyl-transfer RNA synthetase. Defects in this gene have been linked with autosomal recessive inheritance of a variety of different clinical phenotypes. Case A 13 year-old boy developed behavioral an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d983928bf4febbb1fab411195120483f
https://doi.org/10.1016/j.parkreldis.2021.10.031
https://doi.org/10.1016/j.parkreldis.2021.10.031
Autor:
Christoph Wanner, Alberto Ortiz, William R. Wilcox, Robert J. Hopkin, Jack Johnson, Elvira Ponce, Johan T. Ebels, Julie L. Batista, Manish Maski, Juan M. Politei, Ana Maria Martins, Maryam Banikazemi, Aleš Linhart, Michael Mauer, João P. Oliveira, Frank Weidemann, Dominique P. Germain
Publikováno v:
Molecular Genetics and Metabolism. 139:107603
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9efc76c65dcb621b1cedeac2c05ae45f
https://doi.org/10.1016/j.ymgme.2023.107603
https://doi.org/10.1016/j.ymgme.2023.107603
Autor:
Yulan Qi, Alice Huntsman-Labed, Carlos A. Bacino, Keiichi Ozono, Jonathan Day, Klaus Mohnike, Melita Irving, William R. Wilcox, Anu Cherukuri, Ming Liang Chan, Julie Hoover-Fong, Elena Fisheleva, William A. Horton, Kevin Larimore, Ravi Savarirayan, Lori Seid, Kala Jayaram, Joshua Henshaw, George Jeha
Publikováno v:
Clinical Pharmacokinetics. 61:263-280
Vosoritide, an analog of C-type natriuretic peptide, has been developed for the treatment of children with achondroplasia. The pharmacokinetics of vosoritide and relationships between plasma exposure and efficacy, biomarkers, and safety endpoints wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad947a5e332d6c058f6036d194e53431
https://doi.org/10.1007/s40262-021-01059-1
https://doi.org/10.1007/s40262-021-01059-1
Autor:
Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R. Wilcox, John Philips, Natalie Owen, Carlos A. Bacino, Louise Tofts, Joel Charrow, Lynda E. Polgreen, Julie Hoover-Fong, Paul Arundel, Ignacio Ginebreda, Howard M. Saal, Donald Basel, Rosendo Ullot Font, Keiichi Ozono, Michael B. Bober, Valerie Cormier-Daire, Kim-Hanh Le Quan Sang, Genevieve Baujat, Yasemin Alanay, Frank Rutsch, Daniel Hoernschemeyer, Klaus Mohnike, Hiroshi Mochizuki, Asako Tajima, Yumiko Kotani, David D. Weaver, Klane K. White, Clare Army, Kevin Larrimore, Keith Gregg, George Jeha, Claire Milligan, Elena Fisheleva, Alice Huntsman-Labed, Jonathan Day
This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in interventional trials of vosoritide, and to establish a historical control.In this prospective, observational study, participants (≤
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f453eff204de636d775f291695fcb1b7
https://hdl.handle.net/10668/22253
https://hdl.handle.net/10668/22253
Autor:
Howard M. Saal, Carlos A. Bacino, Klaus Mohnike, Daniel Hoernschemeyer, Paul Harmatz, Yumiko Kotani, Julie Hoover-Fong, Jonathan Day, Frank Rutsch, Keiichi Ozono, Alice Huntsman-Labed, Joel Charrow, Rosendo Ullot Font, Elena Fisheleva, Antonio Leiva-Gea, Felipe Luna-González, Donald Basel, Natsuo Yasui, Lynda E. Polgreen, Kala Jayaram, Hiroshi Mochizuki, Ravi Savarirayan, Ignacio Ginebreda, Louise Tofts, Paul Arundel, Michael B. Bober, William R. Wilcox, Yasemin Alanay, Klane K. White, Melita Irving, Dania M Porco
Publikováno v:
GENETICS IN MEDICINE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 12
Genetics in Medicine
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 12
Genetics in Medicine
Author(s): Savarirayan, Ravi; Tofts, Louise; Irving, Melita; Wilcox, William R; Bacino, Carlos A; Hoover-Fong, Julie; Font, Rosendo Ullot; Harmatz, Paul; Rutsch, Frank; Bober, Michael B; Polgreen, Lynda E; Ginebreda, Ignacio; Mohnike, Klaus; Charrow,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07ca192ca4d05488140084f1d5f490f
https://doi.org/10.1530/ey.19.5.3
https://doi.org/10.1530/ey.19.5.3