Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Scott B Selleck"'
Autor:
Brian Dimitroff, Katie Howe, Adrienne Watson, Bridget Campion, Hyun-Gwan Lee, Na Zhao, Michael B O'Connor, Thomas P Neufeld, Scott B Selleck
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e30722 (2012)
The Target of Rapamycin (TOR) growth regulatory system is influenced by a number of different inputs, including growth factor signaling, nutrient availability, and cellular energy levels. While the effects of TOR on cell and organismal growth have be
Externí odkaz:
https://doaj.org/article/6348285cddd44e7eb0d2e12fc41933a6
Autor:
Aurélie Clément, Malgorzata Wiweger, Sophia von der Hardt, Melissa A Rusch, Scott B Selleck, Chi-Bin Chien, Henry H Roehl
Publikováno v:
PLoS Genetics, Vol 4, Iss 7, p e1000136 (2008)
Mutations in human Exostosin genes (EXTs) confer a disease called Hereditary Multiple Exostoses (HME) that affects 1 in 50,000 among the general population. Patients with HME have a short stature and develop osteochondromas during childhood. Here we
Externí odkaz:
https://doaj.org/article/b06bc09025b8402dade8eb2046f5791d
Autor:
Sarah Knox, Hong Ge, Brian D Dimitroff, Yi Ren, Katie A Howe, Andrew M Arsham, Mathew C Easterday, Thomas P Neufeld, Michael B O'Connor, Scott B Selleck
Publikováno v:
PLoS ONE, Vol 2, Iss 4, p e375 (2007)
Tuberous sclerosis complex is a dominant genetic disorder produced by mutations in either of two tumor suppressor genes, TSC1 and TSC2; it is characterized by hamartomatous tumors, and is associated with severe neurological and behavioral disturbance
Externí odkaz:
https://doaj.org/article/6c8842a87e6b4b098be9b378eb623f96
Autor:
Miguel Tillo, William C. Lamanna, Chrissa A. Dwyer, Daniel R. Sandoval, Ariane R. Pessentheiner, Norah Al-Azzam, Stéphane Sarrazin, Jon C. Gonzales, Shih-Hsin Kan, Alexander Y. Andreyev, Nicholas Schultheis, Bryan E. Thacker, Charles A. Glass, Patricia I. Dickson, Raymond Y. Wang, Scott B. Selleck, Jeffrey D. Esko, Philip L.S.M. Gordts
Publikováno v:
The Journal of biological chemistry, vol 298, iss 8
Lysosomal storage diseases result in various developmental and physiological complications, including cachexia. To study the causes for the negative energy balance associated with cachexia, we assessed the impact of sulfamidase deficiency and heparan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aac85804ae2331b1d014955f84e8ad4
https://escholarship.org/uc/item/90c4v3np
https://escholarship.org/uc/item/90c4v3np
Autor:
Claire Reynolds-Peterson, Jennifer Dobson, Claire Trasorras, Scott B. Selleck, Mei Jiang, Nicholas Schultheis, Jie Xu, Hidenao Toyoda, Akiko Kinoshita-Toyoda, Casey Cruse, Brandon Yonel, Na Zhao
Publikováno v:
G3: Genes|Genomes|Genetics
G3: Genes, Genomes, Genetics, Vol 10, Iss 1, Pp 129-141 (2020)
G3: Genes, Genomes, Genetics, Vol 10, Iss 1, Pp 129-141 (2020)
Autophagy is a catabolic process that provides cells with energy and molecular building blocks during nutritional stress. Autophagy also removes misfolded proteins and damaged organelles, a critical mechanism for cellular repair. Earlier work demonst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef233c2984a1b8495b148d69b4aa8057
http://europepmc.org/articles/PMC6945019
http://europepmc.org/articles/PMC6945019
Publikováno v:
Matrix biology : journal of the International Society for Matrix Biology.
Autophagy is a fundamental cellular process discovered as a response to nutrient deprivation. It provides the cellular and molecular machinery for catabolism of cellular constituents, generating energy and providing building blocks for continued surv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::605e74d92466c9dd225f7fc8b14f9f4a
https://pubmed.ncbi.nlm.nih.gov/33548399
https://pubmed.ncbi.nlm.nih.gov/33548399
Autor:
Yunin Ludena-Rodriguez, Molly A. Hall, Santhosh Girirajan, Marylyn D. Ritchie, Dokyoon Kim, Kyoungmi Kim, Heather E. Volk, Irva Hertz-Picciotto, Debashis Ghosh, Scott B. Selleck, Rebecca J. Schmidt, Robin L Hansen, Shefali S. Verma, Sarah A. Pendergrass
Publikováno v:
Autism Research. 10:1470-1480
Autism is a behavioral disorder that has been the subject of extensive genetic studies (Jeste and Geschwind, 2014). The incidence of ASD in the U.S., currently estimated at 1 in 56 children {Developmental Disabilities Monitoring Network Surveillance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::496fee267fe6b6c057591668dbb83b1b
https://doi.org/10.1002/aur.1799
https://doi.org/10.1002/aur.1799
Publikováno v:
Autophagy
Heparan sulfate-modified proteoglycans (HSPGs) are important regulators of signaling and molecular recognition at the cell surface and in the extracellular space. Disruption of HSPG core proteins, HS-synthesis, or HS-degradation can have profound eff
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a522c68279b504817a9d136944b8d2
https://doi.org/10.1080/15548627.2017.1304867
https://doi.org/10.1080/15548627.2017.1304867
Autor:
Therese B. Nauth, Robin L Hansen, Kian Hui Yeoh, Carl Baker, Santhosh Girirajan, Irva Hertz-Picciotto, Rebecca L. Johnson, Marylyn D. Ritchie, Neerja Katiyar, Isaac N. Pessah, Keolu Fox, Scott B. Selleck, Evan E. Eichler, Jorune Balciuniene, Su Jen Khoo, Flora Tassone, Abhinaya Srikanth
Publikováno v:
Human Molecular Genetics
Children with autism have an elevated frequency of large, rare copy number variants (CNVs). However, the global load of deletions or duplications, per se, and their size, location and relationship to clinical manifestations of autism have not been do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b85265e13127c72e6837ef8214d8c453
https://doi.org/10.1093/hmg/ddt136
https://doi.org/10.1093/hmg/ddt136
Publikováno v:
Epstein's Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::506024294f942c8aed1049a5d6eff536
https://doi.org/10.1093/med/9780199934522.003.0196
https://doi.org/10.1093/med/9780199934522.003.0196