@article {581,
	title = {SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.},
	journal = {Eur J Hum Genet},
	volume = {27},
	year = {2019},
	month = {2019 Jul},
	pages = {1054-1060},
	abstract = {<p>SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40\% of affected individuals also have thoracic aortic disease. At the same time, SMAD4 pathogenic variants have not been reported in thoracic aortic disease families without JPS-HHT. A SMAD4 heterozygous variant, c.290G>T, p.(Arg97Leu), not present in population databases and predicted to be damaging to protein function, was identified in a family with thoracic aortic disease and no evidence of HHT or JPS. Cellular studies revealed that the SMAD4 p.(Arg97Leu) alteration increased SMAD4 ubiquitination and 26S proteasome-mediated protein degradation. Smooth muscle cells (SMCs) infected with lentivirus expressing the SMAD4 p.(Arg97Leu) variant demonstrated reduced contractile protein gene expression when compared to that of wild-type SMAD4. In addition, two rare variants were identified in individuals with early age of onset of thoracic aortic dissection. These results suggest that SMAD4 rare missense variants can lead to thoracic aortic disease in individuals who do not have JPS or HHT.</p>},
	issn = {1476-5438},
	doi = {10.1038/s41431-019-0357-x},
	author = {Duan, Xue-Yan and Guo, Dong-Chuan and Regalado, Ellen S and Shen, Hong and Coselli, Joseph S and Estrera, Anthony L and Safi, Hazim J and Bamshad, Michael J and Nickerson, Deborah A and LeMaire, Scott A and De Backer, Julie and Milewicz, Dianna M}
}
@article {66,
	title = {Asprosin, a Fasting-Induced Glucogenic Protein Hormone.},
	journal = {Cell},
	volume = {165},
	year = {2016},
	month = {2016 Apr 21},
	pages = {566-79},
	abstract = {<p>Hepatic glucose release into the circulation is vital for brain function and survival during periods of fasting and is modulated by an array of hormones that precisely regulate plasma glucose levels. We have identified a fasting-induced protein hormone that modulates hepatic glucose release. It is the C-terminal cleavage product of profibrillin, and we name it Asprosin. Asprosin is secreted by white adipose, circulates at nanomolar levels, and is recruited to the liver, where it activates the G protein-cAMP-PKA pathway, resulting in rapid glucose release into the circulation. Humans and mice with insulin resistance show pathologically elevated plasma asprosin, and its loss of function via immunologic or genetic means~has a profound glucose- and insulin-lowering effect secondary to reduced hepatic glucose release. Asprosin represents a glucogenic protein hormone, and therapeutically targeting it may be beneficial in type II diabetes and metabolic syndrome. </p>},
	keywords = {Adipose Tissue, White, Amino Acid Sequence, Animals, Antibodies, Circadian Rhythm, Cyclic AMP, Cyclic AMP-Dependent Protein Kinases, Fasting, Female, Fetal Growth Retardation, Glucose, Humans, Insulin, Liver, Male, Mice, Mice, Inbred C57BL, Mice, Obese, Microfilament Proteins, Molecular Sequence Data, Peptide Fragments, Peptide Hormones, Progeria, Recombinant Proteins, Sequence Alignment},
	issn = {1097-4172},
	doi = {10.1016/j.cell.2016.02.063},
	author = {Romere, Chase and Duerrschmid, Clemens and Bournat, Juan and Constable, Petra and Jain, Mahim and Xia, Fan and Saha, Pradip K and Del Solar, Maria and Zhu, Bokai and York, Brian and Sarkar, Poonam and Rendon, David A and Gaber, M Waleed and LeMaire, Scott A and Coselli, Joseph S and Milewicz, Dianna M and Sutton, V Reid and Butte, Nancy F and Moore, David D and Chopra, Atul R}
}
