Pancreatic B cell biology in health and disease /

Pancreatic B Cell Biology in Health and Disease, Volume 360 presents the latest release in this ongoing series on the novel and widely studied physiology of pancreatic cells in homeostasis and under pathogenic conditions. This new volume includes new chapters on a variety of topics, including Pancre...

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Bibliographic Details
Corporate Author:	ScienceDirect (Online service)
Other Authors:	Santin, Izortze, Galluzzi, Lorenzo
Format:	eBook
Language:	English
Published:	Cambridge, MA : Academic Press, 2021.
Series:	International review of cell and molecular biology ; v. 359.
Subjects:	Pancreatic beta cells. Diabetes > Pathophysiology. Islets of Langerhans Cellules bêta des îlots de Langerhans. Molecular Biology. Cell Biology. Life Sciences. SCIENCE. Developmental Biology. Diabetes > Pathophysiology Pancreatic beta cells Electronic books.
Online Access:	Connect to the full text of this electronic book

Table of Contents:

2.11.1. Genetic alteration and clinical phenotype
2.11.2. Molecular phenotype
2.12. MNX1 mutations (neonatal diabetes mellitus)
2.12.1. Genetic alteration and clinical phenotype
2.12.2. Molecular phenotype
2.13. PAX6 mutations (young onset diabetes and neonatal diabetes mellitus)
2.13.1. Genetic alteration and clinical phenotype
2.13.2. Molecular phenotype
2.14. NEUROG3 mutations (neonatal diabetes mellitus, and insulin-dependent diabetes)
2.14.1. Genetic alteration and clinical phenotype
2.14.2. Molecular phenotype
2.15. NKX2.2 mutations (neonatal diabetes mellitus)
2.15.1. Genetic alteration and clinical phenotype
2.15.2. Molecular phenotype
2.16. CNOT1 mutations (neonatal diabetes mellitus)
2.16.1. Genetic alteration and clinical phenotype
2.16.2. Molecular phenotype
2.17. ZAC1 overexpression (transient neonatal diabetes)
2.17.1. Genetic alteration and clinical phenotype
2.17.2. Molecular phenotype
3. Monogenic forms of diabetes associated with impaired glucose metabolism and insulin secretion
3.1. GCK mutations (MODY2 and neonatal diabetes mellitus)
3.1.1. Genetic alteration and clinical phenotype
3.1.2. Molecular phenotype
3.2. BLK mutations (MODY 11)
3.2.1. Genetic alteration and clinical phenotype
3.2.2. Molecular phenotype
3.3. ABCC8 mutations (MODY12 and neonatal diabetes mellitus)
3.3.1. Genetic alteration and clinical phenotype
3.3.2. Molecular phenotype
3.4. KCNJ11 mutations (MODY13 and neonatal diabetes mellitus)
3.4.1. Genetic alteration and clinical phenotype
3.4.2. Molecular phenotype
3.5. PCSK1 mutations (young onset diabetes)
3.5.1. Genetic alteration and clinical phenotype
3.5.2. Molecular phenotype
3.6. SLC2A2 mutations (Fanconi Bickel Syndrome)
3.6.1. Genetic alteration and clinical phenotype.
3.6.2. Molecular phenotype
3.7. APPL1 mutations (MODY14)
3.7.1. Genetic alteration and clinical phenotype
3.7.2. Molecular phenotype
4. Monogenic forms of diabetes associated with endoplasmic reticulum stress
4.1. EIF2S3 mutations (MEHMO syndrome)
4.1.1. Genetic alteration and clinical phenotype
4.1.2. Molecular phenotype
4.2. EIF2AK3 mutations (Wolcott-Rallison syndrome)
4.2.1. Genetic alteration and clinical phenotype
4.2.2. Molecular phenotype
4.3. EIF2B1 mutations (neonatal/early onset diabetes and transient liver dysfunction)
4.3.1. Genetic alteration and clinical phenotype
4.3.2. Molecular phenotype
4.4. IER3IP1-mutations (neonatal diabetes mellitus)
4.4.1. Genetic alteration and clinical phenotype
4.4.2. Molecular phenotype
4.5. PPP1R15B mutations (young onset diabetes and microcephaly)
4.5.1. Genetic alteration and clinical phenotype
4.5.2. Molecular phenotype
4.6. WFS1 and CISD2 mutations (Wolfram syndrome 1 and 2)
4.6.1. Genetic alteration and clinical phenotype
4.6.2. Molecular phenotype
4.7. INS mutations (MODY10 and permanent neonatal diabetes mellitus)
4.7.1. Genetic alteration and clinical phenotype
4.7.2. Molecular phenotype
4.8. YIPF5 mutations (neonatal/early onset diabetes, microcephaly and epilepsy)
4.8.1. Genetic alteration and clinical phenotype
4.8.2. Molecular phenotype
5. Monogenic forms of diabetes associated with mitochondrial dysfunction
5.1. FXN mutations (Friedreich´s ataxia)
5.1.1. Genetic alteration and clinical phenotype
5.1.2. Molecular phenotype
5.2. MTTL1 and MTTE mutations (maternally inherited diabetes and deafness, MIDD)
5.2.1. Genetic alteration and clinical phenotype
5.2.2. Molecular phenotype
6. Monogenic forms of diabetes associated with impaired tRNA methylation.