Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Daniel L Kraft"'
Autor:
Zongjin Li, Kitchener D Wilson, Bryan Smith, Daniel L Kraft, Fangjun Jia, Mei Huang, Xiaoyan Xie, Robert C Robbins, Sanjiv S Gambhir, Irving L Weissman, Joseph C Wu
Publikováno v:
PLoS ONE, Vol 4, Iss 12, p e8443 (2009)
Differentiation of human embryonic stem cells into endothelial cells (hESC-ECs) has the potential to provide an unlimited source of cells for novel transplantation therapies of ischemic diseases by supporting angiogenesis and vasculogenesis. However,
Externí odkaz:
https://doaj.org/article/fca05a3bbeb1469da16922eb5d52102a
Publikováno v:
PLoS Biology, Vol 1, Iss 3, p E65 (2003)
The detection and characterization of antigen-specific T cell populations is critical for understanding the development and physiology of the immune system and its responses in health and disease. We have developed and tested a method that uses array
Externí odkaz:
https://doaj.org/article/b166588744e2412db3b5ca723d34aa5d
Autor:
Wafa’a Al-Qabandi, Roongruedee Chaiteerakij, Patrick R. Blackburn, Eric W. Klee, Maja Radulovic, Silvia Tortorelli, Lewis R. Roberts, Michael Torbenson, Dawn S. Milliner, Dimitar Gavrilov, C. Ronald Scott, Karl J. Clark, Paldeep S. Atwal, Noralane M. Lindor, Jennifer B. McCormick, Stephen C. Ekker, Markus Grompe, Devin Oglesbee, Mounif El-Youssef, Rebecca A. Nace, Daniel L. Kraft, Nasra H. Giama, Rondell P. Graham, Raymond D. Hickey, Andrew J. Bordner
Publikováno v:
Human Mutation
Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepato
Autor:
Lacey G. Benoit, Gavin R. Oliver, Diana W. Bianchi, Charles D. Madsen, Jie Na, Geoffrey J. Beek, Asha Nair, Nicole J. Boczek, Margot A. Cousin, Pavel N. Pichurin, Peter C. Harris, Daniel L. Kraft, Eric W. Klee, Katharina Hopp, Patrick R. Blackburn
Publikováno v:
European journal of human genetics : EJHG. 26(12)
Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in ~25% of these cases and is most succes
Autor:
Pamela S. Karnes, Marc C. Patterson, John F. O'Brien, Cate Walsh Vockley, Patrick A. Lundquist, Karen Snow, Walter D. Park, Daniel L. Kraft
Publikováno v:
Human Mutation. 22:313-325
The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC1 and NPC2 (HE1) gene products are intimately involved in cholesterol and glycolipid trafficking and/or transport
Autor:
Christine L. Wheatley, Xiaofeng Sun, Walter D. Park, Vishwajeet Puri, Richard E. Pagano, David L. Marks, Marc C. Patterson, Daniel L. Kraft, Karen Snow, Patrick A. Lundquist, John F. O'Brien
Publikováno v:
The American Journal of Human Genetics. 68(6):1361-1372
Niemann-Pick disease type C (NPC) is a fatal, autosomal recessive lipidosis characterized by lysosomal accumulation of unesterified cholesterol and multiple neurological symptoms, such as vertical supranuclear ophthalmoplegia, progressive ataxia, and
Autor:
Robert L. Stout, David Coffin, Rajani Prasad, James P. Landers, Robert P. Oda, Daniel L. Kraft, John F. O'Brien, Wendy P. Patton
Publikováno v:
Electrophoresis. 18:1819-1826
The heterogeneity associated with protein glycoforms has been a challenge to analytical chemists and the subject of structure-function studies for biochemists since their presence in biological systems had been confirmed some three decades ago. Initi
Autor:
Stephen C. Ekker, Wafa’a Al-Qabandi, Devin Oglesbee, Daniel L. Kraft, Andrew J. Bordner, Lewis R. Roberts, Roongruedee Chaiteerakij, Markus Grompe, Patrick R. Blackburn, Raymond D. Hickey, Mounif El-Youssef, Dimitar Gavrilov, Rebecca A. Nace, Eric W. Klee, Nasra H. Giama, Karl J. Clark
Publikováno v:
Gastroenterology. 148:S-111
is high with rapid progression from adenoma to carcinoma. The penetrance of gastrointestinal neoplasms is extremely high. Among patients undergoing surveillance GI mortality has been zero. The presence of cafe-au-lait macules and consanguinity should
Autor:
Walter D. Park, John F. O'Brien, Patrick A. Lundquist, Daniel L. Kraft, Cate Walsh Vockley, Pamela S. Karnes, Marc C. Patterson, Karen Snow
Publikováno v:
Human Mutation; Oct2003, Vol. 22 Issue 4, p313, 13p