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Page 1
Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC.
Rubio-Cabezas O, Puri V, Murano I, Saudek V, Semple RK, Dash S, Hyden CS, Bottomley W, Vigouroux C, Magré J, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee VK, Suliman S, Patch AM, Agarwal AK, Garg A, Barroso I, Cinti S, Czech MP, Argente J, O'Rahilly S, Savage DB; LD Screening Consortium. Rubio-Cabezas O, et al. EMBO Mol Med. 2009 Aug;1(5):280-7. doi: 10.1002/emmm.200900037. EMBO Mol Med. 2009. PMID: 20049731 Free PMC article.
A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.
Dash S, Sano H, Rochford JJ, Semple RK, Yeo G, Hyden CS, Soos MA, Clark J, Rodin A, Langenberg C, Druet C, Fawcett KA, Tung YC, Wareham NJ, Barroso I, Lienhard GE, O'Rahilly S, Savage DB. Dash S, et al. Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9350-5. doi: 10.1073/pnas.0900909106. Epub 2009 May 22. Proc Natl Acad Sci U S A. 2009. PMID: 19470471 Free PMC article.
Analysis of TBC1D4 in patients with severe insulin resistance.
Dash S, Langenberg C, Fawcett KA, Semple RK, Romeo S, Sharp S, Sano H, Lienhard GE, Rochford JJ, Howlett T, Massoud AF, Hindmarsh P, Howell SJ, Wilkinson RJ, Lyssenko V, Groop L, Baroni MG, Barroso I, Wareham NJ, O'Rahilly S, Savage DB. Dash S, et al. Diabetologia. 2010 Jun;53(6):1239-42. doi: 10.1007/s00125-010-1724-x. Epub 2010 Mar 27. Diabetologia. 2010. PMID: 20349035 Free PMC article. No abstract available.