Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The CARTPT encodes proteins that are involved in the regulation of appetite and energy consumption and balance. Mutations can cause obesity wich follows a dominant model. Also synergistic effects with mutations in other genes have to be taken into account.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Elefteriou F et al. (2005) Leptin regulation of bone resorption by the sympathetic nervous system and CART. 
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| 2. |
Douglass J et al. (1996) Characterization of the human cDNA and genomic DNA encoding CART: a cocaine- and amphetamine-regulated transcript.
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| 3. |
Kristensen P et al. (1998) Hypothalamic CART is a new anorectic peptide regulated by leptin.
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| 4. |
Elias CF et al. (1998) Leptin activates hypothalamic CART neurons projecting to the spinal cord.
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| 5. |
Challis BG et al. (2000) The CART gene and human obesity: mutational analysis and population genetics.
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| 6. |
del Giudice EM et al. (2001) Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.
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| 7. |
Kuhar MJ et al. (2002) CART peptides.
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| 8. |
Dominguez G et al. (2004) CART peptide levels are altered by a mutation associated with obesity at codon 34.
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| 9. |
Jean A et al. (2007) Anorexia induced by activation of serotonin 5-HT4 receptors is mediated by increases in CART in the nucleus accumbens.
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| 10. |
NCBI article NCBI 9607
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| 11. |
OMIM.ORG article Omim 602606
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| 12. |
Wikipedia article Wikipedia EN (Cocaine_and_amphetamine_regulated_transcript)
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