Projects per year
Organization profile
Organization profile
The Molecular and Medical Genetics (MMG) Department is an interdisciplinary group of faculty performing basic laboratory research, clinical research, teaching of both graduate and medical students, overseeing the operation of several clinical labs and providing expertise in the area of clinical genetics care.
Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit
Mutation
Medicine & Life Sciences
Pantothenate Kinase-Associated Neurodegeneration
Medicine & Life Sciences
Genes
Medicine & Life Sciences
Fanconi Anemia
Medicine & Life Sciences
DNA Mismatch Repair
Medicine & Life Sciences
Neoplasms
Medicine & Life Sciences
Phenylketonurias
Medicine & Life Sciences
Proteins
Medicine & Life Sciences
Network
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Profiles
Projects 1976 2021
Role of Fatty Acid Oxidation Defects in Insulin Sensitivity
4/27/15 → 3/31/19
Project: Research project › Research Project
Insulin Resistance
Fatty Acids
Metabolomics
Type 2 Diabetes Mellitus
Oxidoreductases
In vivo targeting of diabetes-relevant human cell types with rAAV vectors
Grompe, M., Nakai, H. & Kay, M.
9/30/14 → 6/30/19
Project: Research project › High Impact Research and Research Infrastructure Cooperative Agreement Programs—Multi-Yr Funding
Dependovirus
Capsid
MicroRNAs
Epithelium
Somatostatin-Secreting Cells
AAV capsid functions, immune evasion and neuronal targeting in mice and NHP
7/1/14 → 4/30/19
Project: Research project › Research Project
Immune Evasion
Dependovirus
Capsid
Primates
Blood-Brain Barrier
Research Output 1981 2018
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships
Mighell, T. L., Evans-Dutson, S. & O'Roak, B. J. May 3 2018 In : American Journal of Human Genetics. 102, 5, p. 943-955 13 p.Research output: Contribution to journal › Article
Phosphoric Monoester Hydrolases
Mutagenesis
Genotype
Phenotype
Lipids
Biochemical markers and neuropsychological functioning in distal urea cycle disorders
Members Of The Urea Cycle Disorders Consortium Feb 8 2018 (Accepted/In press) In : Journal of Inherited Metabolic Disease. p. 1-11 11 p.Research output: Contribution to journal › Article
Inborn Urea Cycle Disorder
Hyperargininemia
Biomarkers
Citrullinemia
Ammonia
1
Citations
Blood phenylalanine reduction corrects CNS dopamine and serotonin deficiencies and partially improves behavioral performance in adult phenylketonuric mice
Winn, S. R., Scherer, T., Thöny, B., Ying, M., Martinez, A., Weber, S., Raber, J. & Harding, C. O. Jan 1 2018 In : Molecular Genetics and Metabolism. 123, 1, p. 6-20 15 p.Research output: Contribution to journal › Article
Prefabricated roofs
Phenylalanine
Dopamine
Serotonin
Central Nervous System