David A. Buchner, Ph.D.
Affiliations: | 2003 | University of Michigan, Ann Arbor, Ann Arbor, MI |
Area:
Genetics, Neuroscience BiologyGoogle:
"David Buchner"Mean distance: 26716.5
Parents
Sign in to add mentor| Miriam H. Meisler | grad student | 2003 | University of Michigan | |
| (Scnm1 modifies the severity of a neurological disease by an effect on sodium channel splicing.) | ||||
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Publications
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| Miller A, Chen A, Buchner D, et al. (2020) Abstract P455: Epistatic Regulation of Hematological-related Traits and Gene Expression in Mice Reveals Additional Heritability Missed by Standard GWAS-type Analyses Circulation. 141 |
| Tiosano D, Mears JA, Buchner DA. (2019) Mitochondrial Dysfunction in Primary Ovarian Insufficiency. Endocrinology |
| Cohen M, Persky R, Stegemann R, et al. (2019) Germline USP8 mutation associated with pediatric Cushing disease and other clinical features: a new syndrome. The Journal of Clinical Endocrinology and Metabolism |
| Tiosano D, Baris HN, Chen A, et al. (2019) Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. Plos Genetics. 15: e1008088 |
| Chen A, Tiosano D, Guran T, et al. (2018) Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Human Molecular Genetics |
| Chen A, Liu Y, Williams SM, et al. (2017) Widespread epistasis regulates glucose homeostasis and gene expression. Plos Genetics. 13: e1007025 |
| Charrier A, Wang L, Stephenson EJ, et al. (2016) Zinc finger protein 407 overexpression upregulates PPAR-target gene expression and improves glucose homeostasis in mice. American Journal of Physiology. Endocrinology and Metabolism. ajpendo.00234.2016 |
| Buchner DA, Nadeau JH. (2015) Contrasting genetic architectures in different mouse reference populations used for studying complex traits. Genome Research. 25: 775-91 |
| Stegemann R, Buchner DA. (2015) Transgenerational inheritance of metabolic disease. Seminars in Cell & Developmental Biology. 43: 131-40 |
| Inoue M, Jiang Y, Barnes RH, et al. (2013) Thrombospondin 1 mediates high-fat diet-induced muscle fibrosis and insulin resistance in male mice. Endocrinology. 154: 4548-59 |