Obesity & Lipodystrophy - Medical College of Wisconsin

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FPL 122 • Exome sequencing 3 persons • Filters: • Linkage region • Functional variants • Not in 1000G and dbSNP • 5 variants left- 3 novel • One of them highly expressed in adipose tissue (Good candidate)
Familial Partial Lipodystrophy (Future Directions) • Detailed phenotyping of PPARG, AKT2, CIDEC and PLIN1 subtypes • Search for additional loci • Understanding role of lamin A/C in adipocyte survival • Understanding additional pathways involved in lipodystrophy-induced insulin resistance
Page 1 and 2: Lipodystrophies Sixth Annual Diabet
Page 3 and 4: Lipodystrophies Disorders character
Page 5 and 6: Acquired Lipodystrophies Generalize
Page 7 and 8: Congenital Generalized Lipodystroph
Page 9 and 10: Serum Leptin Levels in CGL 5 4 ~7 t
Page 11 and 12: D9S1818 AGS3 CARD9 D9S1826 SNAPC4 P
Page 13 and 14: mRNA Expression of AGPAT Isoforms i
Page 15 and 16: Increased Lipid Staining in Livers
Page 17 and 18: Mechanism of Hepatic Insulin Resist
Page 19 and 20: Lipid Droplet Formation and Seipin
Page 21 and 22: CGL1 (AGPAT2) CGL2 (BSCL2) C Normal
Page 23 and 24: CGL1 (AGPAT2) CGL2 (BSCL2) C Normal
Page 25 and 26: Novel CGL, type 4 CG7100 • Two af
Page 27 and 28: Amplitude (µV) 50µV CGL, Type 4 A
Page 29 and 30: Familial Partial Lipodystrophy (Dun
Page 31 and 32: Haque et al. JCEM 87: 2395-2398, 20
Page 33 and 34: FPLD Locus on Chromosome 1q21-22 Lo
Page 35 and 36: Structure of Nuclear Lamina • Gar
Page 37 and 38: Familial Partial Lipodystrophy PPAR
Page 39 and 40: Phenotypic Differences in FPL Patie
Page 41 and 42: CIDEC mutation in autosomal recessi
Page 43 and 44: Familial Partial Lipodystrophy (Our
Page 45 and 46: Thigh Calf Heterogeneity in FPL phe
Page 47: FPL 122 F122 1 2 4 5 6 7 3 10 8 9 1
Page 51 and 52: MAD associated Lipodystrophy and Pr
Page 53 and 54: Post-translational Modification of
Page 55 and 56: Mandibular Hypoplasia, Deafness and
Page 57 and 58: Hutchinson-Gilford Progeria Syndrom
Page 59 and 60: Joint Contractures, Microcytic Anem
Page 61 and 62: SHORT Syndrome Autosomal dominant (
Page 63 and 64: SHORT 1100 1 2 3 4 5 6 7
Page 65 and 66: Neonatal Progeroid Syndrome (Wiedem
Page 67 and 68: Neonatal Progeroid Syndrome (Wiedem
Page 69 and 70: Lipodystrophies Disorders of Lipid
Page 71 and 72: Hypoglycemic Therapy During Leptin
Page 73 and 74: - Leptin Therapy in Patients with L
Page 75 and 76: Acknowledgments Center for Human Nu
Page 77: For More Information visit: FPL CGL

Obesity & Lipodystrophy - Medical College of Wisconsin

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