Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Cassandra L. McDonald"'
Autor:
Stephanie A. Campbell, Cassandra L. McDonald, Nicole A.J. Krentz, Francis C. Lynn, Brad G. Hoffman
Publikováno v:
Cell Reports, Vol 28, Iss 7, Pp 1830-1844.e6 (2019)
Summary: Appropriate regulation of genes that coordinate pancreas progenitor proliferation and differentiation is required for pancreas development. Here, we explore the role of H3K4 methylation and the Trithorax group (TrxG) complexes in mediating g
Externí odkaz:
https://doaj.org/article/f2e4e08072c14ed1b86641f76bde2a01
Autor:
Aline Daniel, Cassandra L. McDonald, Brad G. Hoffman, Nina Maeshima, Dan S. Luciani, Ben Vanderkruk, Daniel J. Pasula, Meilin An, Priya Suresh
Publikováno v:
Diabetologia. 66:1097-1115
Aims/hypothesis Beta cells control glucose homeostasis via regulated production and secretion of insulin. This function arises from a highly specialised gene expression programme that is established during development and then sustained, with limited
Autor:
Nicole A.J. Krentz, Stephanie A. Campbell, Cassandra L. McDonald, Brad G. Hoffman, Francis C. Lynn
Publikováno v:
Cell Reports, Vol 28, Iss 7, Pp 1830-1844.e6 (2019)
Summary: Appropriate regulation of genes that coordinate pancreas progenitor proliferation and differentiation is required for pancreas development. Here, we explore the role of H3K4 methylation and the Trithorax group (TrxG) complexes in mediating g
Autor:
Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty
Publikováno v:
New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Med
We report an inborn error of metabolism caused by an expansion of a GCA-repeat tract in the 5′ untranslated region of the gene encoding glutaminase (GLS) that was identified through detailed clinical and biochemical phenotyping, combined with whole
Autor:
Tabea L. Stephan, Jocelyn Bégin, Ben Vanderkruk, Cassandra L. McDonald, Stephanie A. Campbell, Brad G. Hoffman
Publikováno v:
Diabetes. 70(11)
SummaryDuring pancreas development, endocrine progenitors differentiate into the islet-cell subtypes, which undergo further functional maturation in postnatal islet development. In islet β-cells, genes involved in glucose-stimulated insulin secretio
Autor:
Fiona Baine, Norman P. Gerry, Jennifer A. Collins, Cassandra L. McDonald, Folefac Aminkeng, Mario Cornejo-Olivas, Sarah A. Tishkoff, Erynn S. Gordon, Steven J. Madore, Alicia Semaka, Galen E.B. Wright, Jacquie Greenberg, Ferdinando Squitieri, Zosia Miedzybrodzka, Mark Davidson, Amanda Krause, Chris Kay, Michael R. Hayden
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 177:346-357
Huntington disease (HD) is the most common monogenic neurodegenerative disorder in populations of European ancestry, but occurs at lower prevalence in populations of East Asian or black African descent. New mutations for HD result from CAG repeat exp
Autor:
Jennifer A. Collins, Ryan K. C. Yuen, Charlotte Nguyen, Emilia K. Bijlsma, Galen E.B. Wright, Ferdinando Squitieri, Stephen W. Scherer, Colin J. D. Ross, Qingwen Xia, Brett Trost, Michael A. Eberle, Michael R. Hayden, Cassandra L. McDonald, Fiona Richards, Alicia Semaka, Kristina Becanovic, Britt I. Drögemöller, Egor Dolzhenko, Chris Kay
Publikováno v:
American Journal of Human Genetics, 104(6), 1116-1126. CELL PRESS
Huntington disease (HD) is caused by a CAG repeat expansion in the huntingtin (HTT) gene. Although the length of this repeat is inversely correlated with age of onset (AOO), it does not fully explain the variability in AOO. We assessed the sequence d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2aa11c609b8d321775a2b83ab66cac92
https://doi.org/10.1016/j.ajhg.2019.04.007
https://doi.org/10.1016/j.ajhg.2019.04.007
Autor:
Stephen W. Scherer, Kristina Becanovic, Ferdinando Squitieri, Charlotte Nguyen, Fiona Richards, Michael R. Hayden, Ryan K. C. Yuen, Emilia K. Bijlsma, Michael A. Eberle, Egor Dolzhenko, Qingwen Xia, Brett Trost, Jennifer A. Collins, Galen E.B. Wright, Cassandra L. McDonald, Alicia Semaka, Chris Kay
Huntington disease (HD) is an autosomal dominant neurological disorder that is caused by a CAG repeat expansion, translated into polyglutamine, in the huntingtin (HTT) gene. Although the length of this repeat polymorphism is inversely correlated with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::245f62c62e94eaebfee4da2f1c31a1fa