Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities 1st Edition by Fabrizio Barbetti, Lucia Ghizzoni, Federica Guaraldi ISBN 3318060240 9783318060249

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ISBN 10: 3318060240
ISBN 13: 9783318060249
Author: Fabrizio Barbetti, Lucia Ghizzoni, Federica Guaraldi

Diabetes Associated with Single Gene Defects and Chromosomal Abnormalities 1st Edition Table of contents:

1. Diabetes and Genetic Defects Prevalently Involving the Pancreatic Beta Cells
2. Neonatal Diabetes: Permanent Neonatal Diabetes and Transient Neonatal Diabetes
3. Abstract
4. Neonatal Diabetes Mellitus: An Introduction
5. Permanent Neonatal Diabetes Mellitus
6. KATP Channel Mutations as Cause of Human PNDM
7. Molecular Mechanisms of PNDM Mutations
8. Sulfonylurea Treatability in PNDM Patients
9. Insights from Mouse Models of KATP NDM
10. Insulin Gene (INS) Mutations as a Cause of Diabetes and Its Permanent Neonatal Subtype
11. Animal Models of Congenital Abnormalities of Expression of the Insulin Gene Product
12. PNDM and Defects of Other Genes Involved in Glucose Metabolism-Insulin Secretion Coupling in the Pancreatic β-Cell
13. PNDM Associated with Genetic Defects of Transcription Factors
14. Syndromic Form of Neonatal Diabetes Caused by PERK Deficiency (Wolcott-Rallison Syndrome)
15. Transient Neonatal Diabetes Mellitus
16. 6q24-Related Transient Neonatal Diabetes Mellitus
17. The Chromosomal Region 6q24
18. Etiology of TNDM1
19. Pathogenesis of TNDM1
20. Clinical Findings in TNDM1
21. Penetrance
22. Treatment of TNDM1
23. Genetic Counseling
24. KATP Channel and TNDM
25. TNDM and Mutations in Regulatory Regions of the INS Gene
26. Conclusions
27. References
28. Maturity-Onset Diabetes of the Young: From Genetics to Translational Biology and Personalized Medicine
29. Abstract
30. Etiopathogenic Characteristics of Maturity-Onset Diabetes of the Young
31. Overview of the MODY Genetic Subtypes
32. Mild Fasting Hyperglycemia Due to Glucokinase Gene Mutations (GCK-MODY, MODY2)
33. Familial Early-Onset Diabetes Due to Mutations in Transcription Factor Genes
34. HNF4A-MODY (MODY1) and HNF1A-MODY (MODY3)
35. Renal Cysts and Diabetes Syndrome (HNF1B-MODY, MODY5)
36. Other Transcription Factor Genes Involved in MODY
37. Other Genetic Defects Impairing Pancreatic β-Cell Function and Insulin Secretion INS-MODY (MODY10)
38. BLK-MODY (MODY11)
39. ABCC8-MODY (MODY12) and KCNJ11-MODY (MODY13)
40. WFS1-MODY (MODY14)
41. Diabetes Secondary to Exocrine Pancreas Deficiency (CEL-MODY, MODY8)
42. Evidence for Personalized Pharmacogenomic Medicine in MODY
43. Clinical Relevance of a Molecular Diagnosis for MODY
44. Next-Generation Sequencing as a Diagnostic Tool for MODY and Future Research Perspectives
45. Perspectives on Monogenic Diabetes Modelling: The New Era of Induced Pluripotent Stem Cell Biology
46. Conclusion and Future Perspectives
47. References
48. Thiamine-Responsive Megaloblastic Anemia Syndrome
49. Abstract
50. Anemia
51. Diabetes
52. Deafness
53. Ocular Pathology
54. Discussion
55. References
56. Diabetes Mellitus in Mitochondrial Disease
57. Abstract
58. Mitochondrial Biochemistry and Genetics
59. Pathogenesis of Mitochondrial Diabetes
60. Diabetic Phenotypes in Mitochondrial Disease
61. Pattern Recognition: Multisystem Involvement and Inheritance
62. Pattern Recognition: Diabetic Phenotype in Mitochondrial Disease
63. Age-At-Onset
64. Body Mass Index
65. Insulin Requirement
66. End-Organ Involvement
67. Retinopathy
68. Nephropathy
69. Cardiac Disease
70. Neuropathy
71. Stroke-Like Episodes
72. Diagnosis of Mitochondrial Diseases
73. Diabetic Screening in Mitochondrial Disease
74. Management
75. Conclusion
76. Acknowledgement
77. References
78. Diabetes in Wolfram Syndrome: Update of Clinical and Genetic Aspects
79. Abstract
80. Clinical Aspects
81. Linkage Studies
82. Function of the WFS1 Gene
83. Wolfram Syndrome 2
84. Conclusions
85. References
86. Type 1 Diabetes Mellitus in Monogenic Autoimmune Diseases
87. Abstract
88. FOXP3 Gene and T-Regulatory Cells in Immunological Tolerance
89. FOXP3 Mutations Lead to IPEX Syndrome
90. Clinical and Immunological features of IPEX
91. IPEX and Type 1 Diabetes Mellitus
92. IPEX-Like Syndromes and Type 1 Diabetes Mellitus
93. Conclusions
94. References
95. Genetic and Immunological Features of Insulin-Dependent Diabetes Mellitus as a Clinical Manifestation of Type 1 Autoimmune Polyglandular Syndrome
96. Abstract
97. Immunological Features of Type 1 Autoimmune Polyglandular Syndrome
98. Clinical Manifestations of APS1
99. Insulin-Dependent Diabetes Mellitus as a Clinical Manifestation in APS1
100. Genetic Factors Predisposing to Type 1 Diabetes in APS1 Patients
101. Markers for Pancreatic Autoimmunity in T1D
102. The L-Amino Acid Decarboxylase Autoantigen
103. Conclusions
104. References
105. Extreme Insulin Resistance with Diabetes
106. Syndromes Associated with Mutations in the Insulin Signalling Pathway
107. Abstract
108. Biochemical Diagnosis of Severe Insulin Resistance
109. General Clinical Features of Severe Insulin Resistance
110. Specific Monogenic Forms of Severe Insulin Resistance
111. Syndromes due to Mutation of the Insulin Receptor
112. Recessive Extreme Insulin Receptoropathy
113. Donohue Syndrome
114. Rabson-Mendenhall Syndrome
115. Extreme Congenital Insulin Resistance without INSR Mutations
116. “Type A” Insulin Resistance and “HAIR-AN”
117. Downstream Insulin Signalling Mutations
118. SHORT Syndrome
119. A Loss-of-Function Mutation in AKT2
120. Loss-of-Function of TBC1D4/AS160
121. Conclusion
122. Acknowledgement
123. Disclosure Statement
124. References
125. Insulin Resistance and Diabetes Associated with Lipodystrophies
126. Abstract
127. Clinical Classification of Lipodystrophies
128. Complications of Lipodystrophy
129. Specific Genetic Subtypes of Lipodystrophy
130. Congenital Generalised Lipodystrophies
131. Partial Lipodystrophies
132. LMNA
133. FPLD Associated with PPARG Mutations
134. Mutations in Lipid Droplet-Related Genes
135. Insulin Signalling Genes
136. Phospholipid Metabolism
137. Complex Syndromes Associated with Lipodystrophy
138. Management of Lipodystrophy
139. Conclusion
140. Acknowledgement
141. Disclosure Statement
142. References
143. Ciliopathies, Obesity, and Glucose Metabolism
144. Alström Syndrome
145. Abstract
146. Genetic and Molecular Mechanisms
147. Mouse Models
148. Obesity, Metabolism, and Endocrinology
149. General Clinical Aspects and Miscellaneous
150. Diagnosis
151. Therapy
152. Acknowledgement
153. References
154. Chromosomal Defects and Diabetes
155. Prader-Willi Syndrome
156. Abstract
157. References
158. 47,XXY Klinefelter Syndrome Is Associated with an Increased Risk of Insulin Resistance: The Impact of Hypogonadism and Visceral Obesity
159. Abstract
160. Klinefelter Syndrome and Insulin Resistance
161. Hypogonadism and Insulin Sensitivity
162. Visceral Adiposity and Insulin Sensitivity
163. Hypogonadism, Change in Body Composition, and Insulin Resistance in KS
164. Klinefelter Syndrome and Diabetes Mellitus
165. Conclusions
166. Disclosure Statement
167. References
168. Down Syndrome (Trisomy 21) and Diabetes
169. Abstract
170. Pancreatic Histopathology
171. Age at Onset
172. Genetic Susceptibility
173. Islet Cell Autoimmunity
174. Clinical Presentation and Management
175. Conclusions and Perspectives
176. References
177. Turner Syndrome and Diabetes
178. Abstract
179. Autoimmunity in Turner Syndrome
180. Glucose Homeostasis in Turner Syndrome
181. Diabetes in Turner Syndrome
182. Conclusions
183. References
184. Other Genetic Conditions with Increased Susceptibility to Diabetes
185. Diabetes in Friedreich Ataxia
186. Abstract
187. Genetics
188. Frataxin Function
189. Diabetes in Friedreich Ataxia
190. Genotype-Phenotype Correlations
191. Recommended Management
192. Conclusion
193. References
194. Diabetes in Myotonic Dystrophy
195. Abstract
196. Genetics and Pathogenesis
197. Clinical Features
198. Myotonic Dystrophy Type 1
199. Myotonic Dystrophy Type 2
200. Diabetes in Myotonic Dystrophy
201. Conclusion
202. References
203. Author Index
204. Subject Index

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Tags: Fabrizio Barbetti, Lucia Ghizzoni, Federica Guaraldi, Diabetes Associated, Chromosomal Abnormalities