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Rare variants in single-minded 1 (SIM1) are associated with severe obesity

Single-minded 1 (SIM1) is a basic helix-loop-helix transcription factor involved in the development and function of the paraventricular nucleus of the hypothalamus. Obesity has been reported in Sim1 haploinsufficient mice and in a patient with a balanced translocation disrupting SIM1. We sequenced t...

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Autori principali: Ramachandrappa, Shwetha, Raimondo, Anne, Cali, Anna M.G., Keogh, Julia M., Henning, Elana, Saeed, Sadia, Thompson, Amanda, Garg, Sumedha, Bochukova, Elena G., Brage, Soren, Trowse, Victoria, Wheeler, Eleanor, Sullivan, Adrienne E., Dattani, Mehul, Clayton, Peter E., Datta, Vippan, Bruning, John B., Wareham, Nick J., O’Rahilly, Stephen, Peet, Daniel J., Barroso, Ines, Whitelaw, Murray L., Farooqi, I. Sadaf
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3696558/
https://ncbi.nlm.nih.gov/pubmed/23778139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI68016
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