Overweight condition and waist circumference and a candidate gene within the 12q24 locusClaudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, M, S, Hershey Medical Center, Penn State University College of Medicine, Hershey, PA, USA
Cardiovasc Diabetol 12:2. 2013
..abstract:..
Proteasome modulator 9 and carpal tunnel syndromeClaudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, Penn State University and MS Hershey Medical Center, Hershey, PA 17033, United States
Diabetes Res Clin Pract 94:e47-9. 2011
..Non-parametric linkage, linkage disequilibrium-based and independent SNPs-based linkage analyses were performed. The PSMD9 SNPs show linkage to carpal tunnel syndrome...
Proteasome modulator 9 and depression in type 2 diabetesC Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology, H044, Penn State Milton S Hershey Medical Center, 500 University Drive, Hershey, PA 17033, USA
Curr Med Chem 19:5178-80. 2012
..Interestingly, PSMD9 gene common variants contribute to the therapeutic response to anti-depressant treatment. Further, PSMD9 is implicated in a model of prediction to susceptibility to depression...
- Proteasome modulator 9 is linked to microvascular pathology of T2D
Claudia Gragnoli
Department of Medicine, Cellular and Molecular Physiology, Biostatistics, Laboratory of Molecular Genetics of Monogenic and Complex Disorders, M S Hershey Medical Center Penn State University College of Medicine, Hershey, PA, USA
J Cell Physiol 227:3116-8. 2012
..A possible role of PSMD9 in microvascular pathology may be related to a causative pathogenetic role in inflammation as part of an autoimmune process...
- Depression and type 2 diabetes: cortisol pathway implication and investigational needs
Claudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, Penn State University, M S Hershey Medical Center, Hershey, Pennsylvania 17033, USA
J Cell Physiol 227:2318-22. 2012
..We state what studies are still needed to confirm or rule out our hypothesis...
- T2D-nephropathy linkage within 12q24 locus
Claudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, H044, MS Hershey Medical Center, Penn State University College of Medicine, 500 University Drive, Hershey, PA 17033, USA
Diabetes Res Clin Pract 92:e73-5. 2011
..We tested the PSMD9 T2D risk SNPs IVS3+nt460A>G, IVS3+nt437T>C and E197G for linkage to T2D-diabetic nephropathy in 200 Italians T2D families and show linkage to diabetic nephropathy...
- PSMD9 is linked to MODY3
Claudia Gragnoli
Molecular Biology Laboratory, Bios Biotech Multi Diagnostic Health Center, Rome, Italy
J Cell Physiol 223:1-5. 2010
..All MODY3 families should be tested for the PSMD9 A/T/G haplotype. The potential clinical impact of our study is of relevance...
- Hypercholesterolemia and a candidate gene within the 12q24 locus
Claudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, Penn State University and M S Hershey Medical Center, Hershey, PA, USA
Cardiovasc Diabetol 10:38. 2011
..Within the 12q24 locus lies the gene of proteasome modulator 9 (PSMD9). PSMD9 is in linkage with type 2 diabetes (T2D), T2D-nephropathy and macrovascular pathology in Italian families and PSMD9 rare mutations contribute to T2D...
- Proteasome modulator 9 gene is linked to diabetic and non-diabetic retinopathy in T2D
Claudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, Penn State University and M S Hershey Medical Center, Hershey, Pennsylvania 17033, USA
Ophthalmic Genet 32:228-30. 2011
....
- PSMD9 gene in the NIDDM2 locus is linked to type 2 diabetes in Italians
Claudia Gragnoli
Department of Medicine, Cellular and Molecular Physiology, Biostatistics, Laboratory of Molecular Genetics of Monogenic and Complex Disorders, M S Hershey Medical Center, Penn State University College of Medicine, Hershey, Pennsylvania, PA 17033, USA
J Cell Physiol 222:265-7. 2010
..In summary, the A/T/G haplotype in PSMD9 is linked via the recessive allelic model to T2D in Italians. By our observation and testing, the linkage strategy can identify a gene contributing to T2D in a homogeneous subject dataset...
- PSMD9 is linked to type 2 diabetes neuropathy
Claudia Gragnoli
Molecular Biology Laboratory, Bios Biotech Multi Diagnostic Health Center, Rome, Italy
J Diabetes Complications 25:329-31. 2011
....
- CHOP T/C and C/T haplotypes contribute to early-onset type 2 diabetes in Italians
Claudia Gragnoli
Molecular Biology Laboratory, Bios Biotech Multi Diagnostic Health Center, Rome, Italy
J Cell Physiol 217:291-5. 2008
..We conclude that the CHOP T/C and C/T haplotype contributes to our T2D linkage signal on chromosome 12q13.1...
- Proteasome modulator 9 SNPs are linked to hypertension in type 2 diabetes families
Claudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, Penn State University, Hershey, PA, USA
Cardiovasc Diabetol 10:77. 2011
..Proteasome Modulator 9 (PSMD9) lies in the 12q24 locus and is in linkage with MODY3, type 2 diabetes (T2D), microvascular and macrovascular pathology, carpal tunnel syndrome, and hypercholesterolemia in Italian families...
- Meta-analysis of the IPF1 D76N polymorphism in a worldwide type 2 diabetes population
C Gragnoli
Laboratory of Molecular Endocrinology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
Minerva Med 98:163-6. 2007
..We planned to estimate the odds ratio (OR) between D76N genotype and type 2 diabetes (T2D) in Italian, European and worldwide cohorts...
- PSMD9 gene variants within NIDDM2 may rarely contribute to type 2 diabetes
C Gragnoli
Department of Medicine, Massachusetts General Hospital, Boston, MA, USA
J Cell Physiol 212:568-71. 2007
..In fact, the frequency rate of such variants in unrelated cases equals 0.016. We may not exclude that PSMD9 gene variants may contribute, either commonly or rarely, to an increased risk of type 2 diabetes in other populations...
- Proteasome modulator 9 and macrovascular pathology of T2D
Claudia Gragnoli
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology and Biostatistics, Penn State University, M S Hershey Medical Center, Hershey, PA, USA
Cardiovasc Diabetol 10:32. 2011
..PSMD9 mutations rarely cause T2D and common variants are linked to both late-onset T2D and maturity-onset-diabetes of the young (MODY3). In this study, we aimed at determining whether PSMD9 is linked to macrovascular pathology of T2D...
- IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes
Claudia Gragnoli
Laboratory of Molecular Endocrinology, Massachusetts General Hospital, Boston, MA 02114, USA
Metabolism 54:983-8. 2005
..Our findings suggest that the P33T IPF1 mutation may provide an increased susceptibility to the development of gestational diabetes and MODY4 in the Italy-6 pedigree...
- CHOP 5'UTR-c.279T>C and +nt30C>T variants are not associated with overweight condition or with tumors/cancer in Italians - a case-control study
Ramachandran Meenakshisundaram
Department of Medicine and Cellular and Molecular Physiology and Biostatistics, Penn State Milton S, Hershey Medical Center, Hershey, Pennsylvania, USA
J Exp Clin Cancer Res 28:90. 2009
..Hence, we aimed at identifying any potential association of CHOP 5'UTR-c.279T>C and +nt30C>T genotypes and corresponding haplotypes with overweight condition/pre-obesity and tumors/cancer in an Italian dataset...
- CDK4 IVS4-nt40G-->A SNP and type 2 diabetes in Italians
Ramachandran Meenakshisundaram
Department of Medicine and Cellular and Molecular Physiology, Biostatistics, Milton S Hershey Medical Center, Hershey, PA 17033, United States
Diabetes Res Clin Pract 86:e28-30. 2009
..We tested the CDK4 IVS4-nt40A-->G SNP for association with T2D in Italians (230 cases, 204 control subjects) and excluded a role of the variant in our dataset...
- CDK4 IVS4-nt40 AA genotype and obesity-associated tumors/cancer in Italians - a case-control study
Ramachandran Meenakshisundaram
Department of Medicine and Cellular and Molecular Physiology, Milton S Hershey Medical Center, Hershey, PA, USA
J Exp Clin Cancer Res 28:42. 2009
..We aimed at identifying a role of CDK4 IVS4-nt40 G-->A gene variant in benign and/or malignant tumors and in obesity-associated benign and/or malignant tumors in an Italian adult subject dataset...
- CDK4 IVS4-nt40G-->A and T2D-associated obesity in Italians
Ramachandran Meenakshisundaram
Department of Medicine, Cellular and Molecular Physiology, Biostatistics, Milton S Hershey Medical Center, Hershey, PA 17033, USA
J Cell Physiol 221:273-5. 2009
..Hence, CDK4 IVS4-nt40A allele is protective and G allele confers risk for obesity in T2D patients. This study should prompt further work aiming at establishing CDK4 role in contributing to human obesity and T2D-associated obesity...
- NEUROG3 variants and type 2 diabetes in Italians
E Milord
Millennium Pharmaceuticals, Inc, Cambridge, MA, USA
Minerva Med 97:373-8. 2006
..The goal of this study was to establish whether NEUROG3 gene variants are contributing to T2D in an Italian T2D cohort...
- Linkage studies for T2D in Chop and C/EBPbeta chromosomal regions in Italians
Claudia Gragnoli
Laboratory of Molecular Genetics of Monogenic and Complex Disorders, Endocrinology, Diabetes and Metabolism, Medicine and Cellular and Molecular Physiology, Milton S Hershey Medical Center, Hershey, Pennsylvania 17033, USA
J Cell Physiol 213:552-5. 2007
..Our next step will be the identification of CHOP gene variants, which may contribute to the linkage to T2D in Italians...
- Triple genetic variation in the HNF-4alpha gene is associated with early-onset type 2 diabetes mellitus in a philippino family
Claudia Gragnoli
Laboratory of Molecular Endocrinology, Massachusetts General Hospital, Harvard Medical School, Boston 02114, USA
Metabolism 53:959-63. 2004
..We suggest that the V199I missense mutation located in the ligand binding/dimerization domain of HNF-4alpha contributes to type 2 diabetes in the Philippine-1 family. The intron variations may contribute susceptibility to diabetes...
- Successful medical management of status post-Roux-en-Y-gastric-bypass hyperinsulinemic hypoglycemia
Elias Spanakis
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Division of Endocrinology, Diabetes and Metabolism, H044, Department of Medicine and Cellular and Molecular Physiology and Public Health Sciences, Penn State Milton S Hershey Medical Center, 500 University Drive, Hershey, PA 17033, USA
Obes Surg 19:1333-4. 2009
..In this letter, we describe the first successful management of status post-gastric-bypass hyperinsulinemic hypoglycemia with diazoxide...
- AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance
Elias Spanakis
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology, M S Hershey Medical Center, Hershey, Pennsylvania 17033, USA
J Cell Physiol 217:605-17. 2008
..The AVPR2 mutations are spread world-wide. Our study may serve as an updated review, comprehensive of all AVPR2 variants and specific gene locations. J. Cell. Physiol. 217: 605-617, 2008. (c) 2008 Wiley-Liss, Inc...
- Bariatric surgery, safety and type 2 diabetes
Elias Spanakis
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology, H044, Penn State Milton S Hershey Medical Center, Penn State University College of Medicine, Hershey, PA 17033, USA
Obes Surg 19:363-8. 2009
..Finally, we hereby examine whether bariatric surgery may be considered a treatment for T2D in pregnant women, children, adolescents and subjects at least 65 years old...
- What do we know about serotonin?
Catherine Jonnakuty
Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular and Molecular Physiology, M S Hershey Medical Center, Hershey, Pennsylvania, USA
J Cell Physiol 217:301-6. 2008
..In addition, we summarize the results of large-scale genetic studies on serotonin and serotonin transporter genes, performed in relation to behavioral and mood disorders...
- Linkage study of the glucagon receptor gene with type 2 diabetes mellitus in Italians
Claudia Gragnoli
Laboratory of Molecular Endocrinology, Massachusetts General Hospital, Boston, MA 02114, USA
Metabolism 54:786-7. 2005
..Nevertheless, we may conclude that GCR does not play a major role in the pathogenesis of T2DM in Italians...
