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EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.
Gautheron J, Morisseau C, Chung WK, Zammouri J, Auclair M, Baujat G, Capel E, Moulin C, Wang Y, Yang J, Hammock BD, Cerame B, Phan F, Fève B, Vigouroux C, Andreelli F, Jeru I. Gautheron J, et al. Elife. 2021 Aug 3;10:e68445. doi: 10.7554/eLife.68445. Elife. 2021. PMID: 34342583 Free PMC article.
We identified two de novo variants located in EPHX1 catalytic site in patients with a lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. ...This KO also promoted oxidative stress and cellular senescence …
We identified two de novo variants located in EPHX1 catalytic site in patients with a lipoatrophic diabetes characterized by l …
Clinical and laboratory features of youth onset type 2 diabetes in Jamaica.
Tulloch-Reid MK, Boyne MS, Smikle MF, Choo-Kang EG, Parkes RH, Wright-Pascoe RA, Barton EN, Wilks RJ, Williams DE. Tulloch-Reid MK, et al. West Indian Med J. 2010 Mar;59(2):131-8. West Indian Med J. 2010. PMID: 21275116

Classification was based on the presence of GAD-65 and IA-2 diabetes autoantibodies (AB), fasting (FCP) and stimulated C-peptide (SCP) measurements, serum leptin and clinical phenotype as follows: (i) Type IA diabetes--AB+, (ii) Type lB diabetes--AB- and FCP < 230 pmol/l and/o

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Classification was based on the presence of GAD-65 and IA-2 diabetes autoantibodies (AB), fasting (FCP) and stimulated C-peptide (SCP) measu …
Diagnosis, prediction, and natural course of HIV-1 protease-inhibitor-associated lipodystrophy, hyperlipidaemia, and diabetes mellitus: a cohort study.
Carr A, Samaras K, Thorisdottir A, Kaufmann GR, Chisholm DJ, Cooper DA. Carr A, et al. Lancet. 1999 Jun 19;353(9170):2093-9. doi: 10.1016/S0140-6736(98)08468-2. Lancet. 1999. PMID: 10382692
We studied the natural course of the syndrome to develop diagnostic criteria and identifying markers that predict its severity. METHODS: We assessed 113 patients who were receiving HIV-1 protease inhibitors (mean 21 months) and 45 HIV-1-infected patients (28 with follow-up …
We studied the natural course of the syndrome to develop diagnostic criteria and identifying markers that predict its severity. METHO …
Lipoatrophic diabetes and end-stage liver disease secondary to nonalcoholic steatohepatitis with recurrence after liver transplantation.
Cauble MS, Gilroy R, Sorrell MF, Mailliard ME, Sudan DL, Anderson JC, Wisecarver JL, Balakrishnan S, Larsen JL. Cauble MS, et al. Transplantation. 2001 Apr 15;71(7):892-5. doi: 10.1097/00007890-200104150-00012. Transplantation. 2001. PMID: 11349722 Review.
Nonalcoholic steatohepatitis (NASH) is a well-described change in liver pathology consisting of steatosis, hepatitis, and fibrosis that can be associated with lipoatrophic diabetes. RESULTS: This article describes the first reported case of lipoatrophic di …
Nonalcoholic steatohepatitis (NASH) is a well-described change in liver pathology consisting of steatosis, hepatitis, and fibrosis that can …
Congenital generalized lipodystrophy and experimental lipoatrophic diabetes in rabbits treated successfully with fenfluramine.
Trygstad O, Foss I. Trygstad O, et al. Acta Endocrinol (Copenh). 1977 Jun;85(2):436-48. doi: 10.1530/acta.0.0850436. Acta Endocrinol (Copenh). 1977. PMID: 577333
Lipoatrophic diabetes has been produced in rabbits by injection of a fraction prepared from the urine from patients with congenital generalized lipodystrophy. ...This drug improved the general condition of the rabbits with lipoatrophic diabetes, as wel …
Lipoatrophic diabetes has been produced in rabbits by injection of a fraction prepared from the urine from patients with conge …
Effects of insulin and oral antidiabetic agents on the plasma triglyceride levels in lipoatrophic diabetes.
Sato T, Saito T, Yasuda K, Yoshinaga K. Sato T, et al. Tohoku J Exp Med. 1978 Apr;124(4):381-5. doi: 10.1620/tjem.124.381. Tohoku J Exp Med. 1978. PMID: 663935 Free article.
Three cases of congenital type of lipoatrophic diabetes were treated with oral antidiabetic agents or insulin for high blood sugar. ...The levels of plasma triglyceride were reduced when doses of oral antidiabetic agents or insulin were kept constant for several day …
Three cases of congenital type of lipoatrophic diabetes were treated with oral antidiabetic agents or insulin for high blood s …
Cardiovascular risk profile in Caribbean youth with diabetes mellitus.
Tulloch-Reid MK, Boyne MS, Smikle MF, Choo-Kang EG, Parkes RH, Wright-Pascoe RA, Barton EN, Wilks RJ, Williams DE. Tulloch-Reid MK, et al. West Indian Med J. 2009 Jun;58(3):219-26. West Indian Med J. 2009. PMID: 20043528
METHODS: Participants were classified based on the presence of GAD-65 and IA-2 autoantibodies, C-peptide, leptin and clinical phenotype. Trained observers obtained anthropometric measurements and sitting blood pressure. ...Thirty-six had Type 1 diabetes (T1D), thirteen Typ …
METHODS: Participants were classified based on the presence of GAD-65 and IA-2 autoantibodies, C-peptide, leptin and clinical phenotype. Tra …
Heterogeneity of the insulin-receptor interaction in lipoatropic diabetes.
Wachslicht-Rodbard H, Muggeo M, Kahn CR, Saviolakis GA, Harrison LC, Flier JS. Wachslicht-Rodbard H, et al. J Clin Endocrinol Metab. 1981 Mar;52(3):416-25. doi: 10.1210/jcem-52-3-416. J Clin Endocrinol Metab. 1981. PMID: 7007407
In most cases there was a good correlation between the binding with erythrocytes and monocytes, although decreased affinity was not observed in the red blood cells. There was no obvious correlations between the nature of the receptor defect and the clinical patterns in the …
In most cases there was a good correlation between the binding with erythrocytes and monocytes, although decreased affinity was not obser …
Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy.
Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Baracho MFP, Winzenrieth R, Bandeira F, Mendes-Aguiar CO, Neto FPF, Ferreira LC, Rosen CJ, Jeronimo SMB. Lima JG, et al. Bone. 2017 Aug;101:21-25. doi: 10.1016/j.bone.2017.03.053. Epub 2017 Apr 6. Bone. 2017. PMID: 28390904 Free PMC article.
Seven out of 11 patients had normal BMD, while four patients had high bone mass (defined as Z-score>+2.5SD). Patients on insulin had lower sclerostin (37.39.2 vs. 52.613.4pmol/L, p=0.05). The mean TBS was 1.4020.106, and it was higher than 1.300 in nine patients. CONCLU …
Seven out of 11 patients had normal BMD, while four patients had high bone mass (defined as Z-score>+2.5SD). Patients on insulin h …
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