M K Hahn
Affiliation: Vanderbilt University
- Norepinephrine transporter variant A457P knock-in mice display key features of human postural orthostatic tachycardia syndromeJana K Shirey-Rice
Division of Genetic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
Dis Model Mech 6:1001-11. 2013..Our findings support that NET dysfunction is sufficient to produce a POTS phenotype and introduces the first genetic model suitable for more detailed mechanistic studies of the disorder and its comorbidities. ..
- The functional impact of SLC6 transporter genetic variationMaureen K Hahn
Department of Pharmacology and Center for Molecular Neuroscience, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
Annu Rev Pharmacol Toxicol 47:401-41. 2007..Refining phenotypes, through assessment of endophenotypes, specific behavioral tasks, medication response, and brain network properties has also improved detection of the impact of genetic variation on complex behavior and disease...
- Multivariate permutation analysis associates multiple polymorphisms with subphenotypes of major depressionM K Hahn
Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, TN 37232, USA
Genes Brain Behav 7:487-95. 2008..74 (1.05-7.18)]}. These relationships illustrate an approach to the elucidation of gene influences on trait components of MDD and with replication, may help identify MDD subpopulations that can benefit from more targeted pharmacotherapy...
- Novel and functional norepinephrine transporter protein variants identified in attention-deficit hyperactivity disorderMaureen K Hahn
Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Neuropharmacology 57:694-701. 2009..Identification of polymorphic sites within NET, specifically those that produce functional consequences, is one critical step in elucidating the genetic variation contributing to the heritable component of diseases such as ADHD...
- Monoamine transporter gene structure and polymorphisms in relation to psychiatric and other complex disordersM K Hahn
Department of Pharmacology and Center for Molecular Neuroscience, Vanderbilt University, Nashville, TN 37232 6420, USA
Pharmacogenomics J 2:217-35. 2002....
- A mutation in the human norepinephrine transporter gene (SLC6A2) associated with orthostatic intolerance disrupts surface expression of mutant and wild-type transportersMaureen K Hahn
Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 8548, USA
J Neurosci 23:4470-8. 2003..These results elucidate a molecular mechanism for the disrupted NE homeostasis and cardiovascular function evident in OI patients with the hNET-A457P mutation...
- Single nucleotide polymorphisms in the human norepinephrine transporter gene affect expression, trafficking, antidepressant interaction, and protein kinase C regulationMaureen K Hahn
Center for Molecular Neuroscience, 6133 Medical Research Building III, Suite 7140, Vanderbilt School of Medicine, Nashville, TN 37232 8548, USA
Mol Pharmacol 68:457-66. 2005..These findings reveal functional deficits that are likely to compromise NE signaling in SNP carriers in the population and identify key regions of NET contributing to transporter biosynthesis, activity, and regulation...
- A genetic screen in Caenorhabditis elegans for dopamine neuron insensitivity to 6-hydroxydopamine identifies dopamine transporter mutants impacting transporter biosynthesis and traffickingRichard Nass
Department of Anesthesiology, Vanderbilt School of Medicine, Nashville, Tennessee 37232 8548, USA
J Neurochem 94:774-85. 2005....
- A polymorphism in the norepinephrine transporter gene alters promoter activity and is associated with attention-deficit hyperactivity disorderChun Hyung Kim
Molecular Neurobiology, McLean Hospital, Harvard Medical School, Belmont, MA 02478, USA
Proc Natl Acad Sci U S A 103:19164-9. 2006....
- GENETIC POLYMORPHISMS HUMAN NOREPINEPHRINE TRANSPORTERMAUREEN HAHN; Fiscal Year: 2002..abstract_text> ..
- Neurobehavioral Analysis of Norepinephrine Transporter VariantsMAUREEN HAHN; Fiscal Year: 2007..Understanding the function of NET variants will contribute to our understanding of how genetic variation within NET contributes to human complex traits and disease ..