Search Results - "Hyden, Caroline S.S"

truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia by Dash, Satya, Sano, Hiroyuki, Rochford, Justin J, Semple, Robert K, Yeo, Giles, Hyden, Caroline S.S, Soos, Maria A, Clark, James, Rodin, Andrew, Langenberg, Claudia, Druet, Celine, Fawcett, Katherine A, Tung, Y.C. Loraine, Wareham, Nicolas J, Barroso, Inês, Lienhard, Gustav E, O'Rahilly, Stephen, Savage, David B

“…Tre-2, BUB2, CDC16, 1 domain family member 4 (TBC1D4) (AS160) is a Rab-GTPase activating protein implicated in insulin-stimulated glucose transporter 4 (GLUT4)…”
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Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC by Rubio‐Cabezas, Oscar, Puri, Vishwajeet, Murano, Incoronata, Saudek, Vladimir, Semple, Robert K., Dash, Satya, Hyden, Caroline S. S., Bottomley, William, Vigouroux, Corinne, Magré, Jocelyne, Raymond‐Barker, Philippa, Murgatroyd, Peter R., Chawla, Anil, Skepper, Jeremy N., Chatterjee, V. Krishna, Suliman, Sara, Patch, Ann‐Marie, Agarwal, Anil K., Garg, Abhimanyu, Barroso, Inês, Cinti, Saverio, Czech, Michael P., Argente, Jesús, O'Rahilly, Stephen, Savage, David B.

“…Lipodystrophic syndromes are characterized by adipose tissue deficiency. Although rare, they are of considerable interest as they, like obesity, typically lead…”
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