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Items: 1 to 20 of 68

1.

Identification of a SIRT1 mutation in a family with type 1 diabetes.

Biason-Lauber A, Böni-Schnetzler M, Hubbard BP, Bouzakri K, Brunner A, Cavelti-Weder C, Keller C, Meyer-Böni M, Meier DT, Brorsson C, Timper K, Leibowitz G, Patrignani A, Bruggmann R, Boily G, Zulewski H, Geier A, Cermak JM, Elliott P, Ellis JL, Westphal C, Knobel U, Eloranta JJ, Kerr-Conte J, Pattou F, Konrad D, Matter CM, Fontana A, Rogler G, Schlapbach R, Regairaz C, Carballido JM, Glaser B, McBurney MW, Pociot F, Sinclair DA, Donath MY.

Cell Metab. 2013 Mar 5;17(3):448-455. doi: 10.1016/j.cmet.2013.02.001.

2.

Diabetes: Implications of a novel point mutation of SIRT1 in T1DM.

Chong ZZ.

Nat Rev Endocrinol. 2013 Jun;9(6):323-4. doi: 10.1038/nrendo.2013.87. Epub 2013 Apr 23. No abstract available.

PMID:
23609336
3.

A missense mutation underlies defective SOCS4 function in a family with autoimmunity.

Arts P, Plantinga TS, van den Berg JM, Gilissen C, Veltman JA, van Trotsenburg AS, van de Veerdonk FL, Kuijpers TW, Hoischen A, Netea MG.

J Intern Med. 2015 Aug;278(2):203-10. doi: 10.1111/joim.12351. Epub 2015 Mar 10.

4.

Islet autoimmunity and genetic mutations in Chinese subjects initially thought to have Type 1B diabetes.

Zhang D, Zhou Z, Li L, Weng J, Huang G, Jing P, Zhang C, Peng J, Xiu L.

Diabet Med. 2006 Jan;23(1):67-71.

PMID:
16409568
5.

Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.

Zeissig S, Petersen BS, Tomczak M, Melum E, Huc-Claustre E, Dougan SK, Laerdahl JK, Stade B, Forster M, Schreiber S, Weir D, Leichtner AM, Franke A, Blumberg RS.

Gut. 2015 Dec;64(12):1889-97. doi: 10.1136/gutjnl-2014-308541. Epub 2014 Nov 3.

6.

Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.

Johnson MB, De Franco E, Lango Allen H, Al Senani A, Elbarbary N, Siklar Z, Berberoglu M, Imane Z, Haghighi A, Razavi Z, Ullah I, Alyaarubi S, Gardner D, Ellard S, Hattersley AT, Flanagan SE.

Diabetes. 2017 Aug;66(8):2316-2322. doi: 10.2337/db17-0040. Epub 2017 May 4. Erratum in: Diabetes. 2018 Jan 5;:.

7.

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Lévy E, Stolzenberg MC, Bruneau J, Breton S, Neven B, Sauvion S, Zarhrate M, Nitschké P, Fischer A, Magérus-Chatinet A, Quartier P, Rieux-Laucat F.

Clin Immunol. 2016 Jul;168:88-93. doi: 10.1016/j.clim.2016.03.006. Epub 2016 Apr 5.

PMID:
27057999
8.

Islet cell autoimmunity and mitochondrial DNA mutation in Korean subjects with typical and atypical Type I diabetes.

Lee WJ, Lee HW, Palmer JP, Park KS, Lee HK, Park JY, Hong SK, Lee KU.

Diabetologia. 2001 Dec;44(12):2187-91.

PMID:
11793020
9.

Identification and functional analysis of mutations in the hepatocyte nuclear factor-1alpha gene in anti-islet autoantibody-negative Japanese patients with type 1 diabetes.

Kawasaki E, Sera Y, Yamakawa K, Abe T, Ozaki M, Uotani S, Ohtsu N, Takino H, Yamasaki H, Yamaguchi Y, Matsuura N, Eguchi K.

J Clin Endocrinol Metab. 2000 Jan;85(1):331-5.

PMID:
10634407
10.

Beyond the hormone: insulin as an autoimmune target in type 1 diabetes.

Brezar V, Carel JC, Boitard C, Mallone R.

Endocr Rev. 2011 Oct;32(5):623-69. doi: 10.1210/er.2011-0010. Epub 2011 Jun 23. Review.

PMID:
21700723
11.

Recent advancement of understanding pathogenesis of type 1 diabetes and potential relevance to diabetic nephropathy.

Ichinose K, Kawasaki E, Eguchi K.

Am J Nephrol. 2007;27(6):554-64. Epub 2007 Sep 6. Review.

12.

A novel mutation in SIRT1-AS leading to a decreased risk of HCC.

Liu J, Wu W, Jin J.

Oncol Rep. 2015 Nov;34(5):2343-50. doi: 10.3892/or.2015.4205. Epub 2015 Aug 19.

PMID:
26324025
13.

Change in mRNA expression of sirtuin 1 and sirtuin 3 in cats fed on high fat diet.

Ishikawa S, Li G, Takemitsu H, Fujiwara M, Mori N, Yamamoto I, Arai T.

BMC Vet Res. 2013 Sep 27;9:187. doi: 10.1186/1746-6148-9-187.

14.

SIRT1 protects against myocardial ischemia-reperfusion injury via activating eNOS in diabetic rats.

Ding M, Lei J, Han H, Li W, Qu Y, Fu E, Fu F, Wang X.

Cardiovasc Diabetol. 2015 Oct 21;14:143. doi: 10.1186/s12933-015-0299-8.

15.

PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits.

Chelala C, Duchatelet S, Joffret ML, Bergholdt R, Dubois-Laforgue D, Ghandil P, Pociot F, Caillat-Zucman S, Timsit J, Julier C.

Diabetes. 2007 Feb;56(2):522-6.

16.

Sirtuin1 (Sirt1) promotes cortical bone formation by preventing β-catenin sequestration by FoxO transcription factors in osteoblast progenitors.

Iyer S, Han L, Bartell SM, Kim HN, Gubrij I, de Cabo R, O'Brien CA, Manolagas SC, Almeida M.

J Biol Chem. 2014 Aug 29;289(35):24069-78. doi: 10.1074/jbc.M114.561803. Epub 2014 Jul 7.

17.

The CTLA4 region as a general autoimmunity factor: an extended pedigree provides evidence for synergy with the HLA locus in the etiology of type 1 diabetes mellitus, Hashimoto's thyroiditis and Graves' disease.

Einarsdottir E, Söderström I, Löfgren-Burström A, Haraldsson S, Nilsson-Ardnor S, Penha-Goncalves C, Lind L, Holmgren G, Holmberg M, Asplund K, Holmberg D.

Eur J Hum Genet. 2003 Jan;11(1):81-4.

18.

SIRT1 gene polymorphisms affect the protein expression in cardiovascular diseases.

Kilic U, Gok O, Bacaksiz A, Izmirli M, Elibol-Can B, Uysal O.

PLoS One. 2014 Feb 28;9(2):e90428. doi: 10.1371/journal.pone.0090428. eCollection 2014.

19.

The type III histone deacetylase Sirt1 is essential for maintenance of T cell tolerance in mice.

Zhang J, Lee SM, Shannon S, Gao B, Chen W, Chen A, Divekar R, McBurney MW, Braley-Mullen H, Zaghouani H, Fang D.

J Clin Invest. 2009 Oct;119(10):3048-58. doi: 10.1172/JCI38902.

20.

Oxidative stress-induced inhibition of Sirt1 by caveolin-1 promotes p53-dependent premature senescence and stimulates the secretion of interleukin 6 (IL-6).

Volonte D, Zou H, Bartholomew JN, Liu Z, Morel PA, Galbiati F.

J Biol Chem. 2015 Feb 13;290(7):4202-14. doi: 10.1074/jbc.M114.598268. Epub 2014 Dec 15.

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