検索結果 - Eric Weh
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Small molecule activation of metabolic enzyme pyruvate kinase muscle isozyme 2, PKM2, circumvents photoreceptor apoptosis 著者: Thomas J. Wubben, Mercy Pawar, Eric Weh, Andrew D. Smith, Peter Sajjakulnukit, Li Zhang, Lipeng Dai, Heather Hager, Manjunath P. Pai, Costas A. Lyssiotis, Cagri G. Besirli
出版事項 2020Artigo -
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Novel <i><scp>B3GALTL</scp></i> mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes 著者: Eric Weh, Linda M. Reis, Rebecca C. Tyler, David Bick, William J. Rhead, Stephanie E Wallace, Tracy L. McGregor, Shelley K. Dills, Mei Chao, J.C. Murray, Elena V. Semina
出版事項 2013Artigo
関連主題
Biology
Gene
Genetics
Apoptosis
Biochemistry
Cell biology
Frameshift mutation
Glycolysis
Medicine
Metabolism
Missense mutation
Mutation
Nonsense mutation
Retinal
Allele
Anaerobic glycolysis
Brachydactyly
Chemistry
Compound heterozygosity
Cytoprotection
Downregulation and upregulation
Endocrinology
Exome
Exome sequencing
Foveal
Hexokinase
In vivo
Kinase
Materials science
Mitochondrion