UID:
almafu_9960074031102883
Umfang:
1 online resource (462 p.)
Ausgabe:
2nd ed.
ISBN:
9780128008928
,
012800892X
,
9780128011348
,
0128011343
Anmerkung:
Description based upon print version of record.
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Cover -- Title Page -- Copyright Page -- Contents -- List of Contributors -- Preface to the First Edition -- Preface to the Second Edition -- Part I - Introduction -- Chapter 1 - Mechanisms of Mutation -- Introduction -- The types of mutation -- The mechanisms of mutation -- Base Pairing and the Action of Mutagenic Agents -- The Role of Enzymes in Mutation -- Mismatch Repair -- Modifiers of Mutation Not Associated with Replication -- Somatic Hypermutation -- The role of technology -- Double-strand break repair-related mechanisms -- Mobile insertion elements -- The human mutation rate -- The phenotypic effect of mutations -- Conclusion and summary -- References -- Part II - Pancreas -- Chapter 2 - A Clinical Guide to Monogenic Diabetes -- Introduction -- Clinical presentation -- Familial Fasting Hyperglycemia: GCK-Related Hyperglycemia (also Known as GCK-MODY or MODY2) -- Transcription Factor Diabetes -- Syndromic Forms of Monogenic Diabetes -- Neonatal Diabetes Mellitus -- Transient Neonatal Diabetes -- Permanent Neonatal Diabetes -- Genetic testing -- Exome Testing Options -- Additional Testing Considerations -- 6q24-TND Testing -- Deletion Analysis -- Intronic Mutations -- Interpreting Results -- Genetic Counseling -- Conclusions -- References -- Chapter 3 - Hypoglycemia -- Introduction -- Overview of Glucose Homeostasis -- Background and Incidence/Prevalence -- Clinical Presentation -- Diagnostic Evaluation -- Genetic pathophysiology -- Hyperinsulinism -- Hyperinsulinism Resulting from Mutations in ABCC8 or KCNJ11 (Hyperinsulinemic Hypoglycemia, Familial Types 1 and 2) - KATP-HI -- Hyperinsulinism Resulting from Mutations in GLUD-1 (Hyperinsulinemic Hypoglycemia, Familial 6) - GDH-HI -- Hyperinsulinism Resulting from Mutations in GCK (Hyperinsulinemic Hypoglycemia, Familial 3) - GK-HI.
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Hyperinsulinism Resulting from Mutations in HADH (Hyperinsulinemic Hypoglycemia, Familial 4) - SCHAD-HI -- Hyperinsulinism Resulting from Mutations in SLC16A1 (Hyperinsulinemic Hypoglycemia, Familial 7) - Exercise-Induced-HI -- Hyperinsulinism Resulting from Mutations in INSR (Hyperinsulinemic Hypoglycemia, Familial 5) - Insulin Receptor Activating ... -- Hyperinsulinism Resulting from Mutations in HNF1A (Hepatocyte Nuclear Factor-1α) -- Hyperinsulinism Resulting from Mutations in HNF4A (Hepatocyte Nuclear Factor 4-Alpha) -- Hyperinsulinism Resulting from Mutations in UCP2 (Uncoupling Protein 2) -- Other Rare Forms of Hypoglycemia Due to Hyperinsulinemia or Related Causes -- Summary -- Insulinomas -- Disorders of Glycogenolysis and Gluconeogenesis - "Glycogen Storage Diseases" -- Disorders of Glycogenolysis -- Glycogen Storage Disease Type "0": Glycogen Synthase Deficiency -- Glycogen Storage Disease Type 1: Von Gierke's Disease (Glucose-6-Phosphatase Deficiency) -- GSD 1a -- GSD 1b -- GSD III (Cori Disease) - Glycogen Debrancher Enzyme Deficiency -- Glycogen Storage Disease VI (Hers Disease, Glycogen Phosphorylase Deficiency) and GSD IX (Phosphorylase Kinase Deficiency) -- Disorders of Gluconeogenesis -- Fructose-1,6-Bisphosphatase (FBPase) Deficiency -- Phosphoenolpyruvate Carboxykinase (PEPCK) Deficiency -- Pyruvate Carboxylase Deficiency -- Other Disorders of Carbohydrate Metabolism -- Hereditary Fructose Intolerance -- Galactosemia -- Defects in Amino Acid Metabolism -- Maple Syrup Urine Disease (MSUD)/Branched-Chain Amino Aciduria -- Propionic Acidemia -- Methylmalonic Acidemia (MMA) -- Tyrosinemia -- Fatty Acid Oxidation Disorders -- Long-Chain Fatty Acid Oxidation Defects -- Organic Carnitine Transporter 2 (OCTN2) Deficiency -- Carnitine Shuttle Defects -- Deficiencies of Mitochondrial Long-Chain Fatty Acid b-Oxidation Enzymes.
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Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency -- Mitochondrial Trifunctional Protein (MTP) Deficiency -- Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency -- Medium-Chain Fatty Acid Oxidation Defects -- Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency -- Short-Chain Fatty Acid Oxidation Defects -- Glycerol Metabolism Disorder -- Disorders of Ketogenesis (Ketone Body Synthesis) and Ketolysis (Ketone Utilization) -- Disorders of Ketogenesis -- HMG-CoA Synthase Deficiency185,188 -- HMG-CoA Lyase Deficiency185,189 -- Disorders of Ketolysis185,190 -- Hypoglycemia Due to Counterregulatory Hormone Deficiency -- Congenital Pituitary Hormone Deficiencies -- Disorders of the Adrenal Gland -- Other Counterregulatory Hormone Deficiency Disorders -- Miscellaneous Disorders Resulting in Hypoglycemia -- Beckwith-Wiedemann Syndrome (BWS) -- Russell-Silver Syndrome -- Sotos Syndrome (Cerebral Gigantism) -- Congenital Disorders of Glycosylation (CDG) -- Laron Syndrome -- Congenital Severe Insulin Resistance Syndromes -- Primary Generalized Glucocorticoid Resistance -- Timothy Syndrome -- AKT2 Mutations -- Citrin Deficiency -- Summary -- References -- Part III - Pituitary -- Chapter 4 - Functioning Pituitary Adenomas -- Introduction -- Genetic pathophysiology of pituitary adenomas -- Genetic screening in functioning pituitary adenomas -- MEN1 -- MEN1-related pituitary tumors -- Recommendations for Testing in MEN1 -- Carney complex (CNC) -- CNC-Related Pituitary Tumors -- Recommendations for Testing in CNC -- Multiple endocrine neoplasia 4 (MEN4) -- Recommendations for Testing in MEN4 -- Familial isolated pituitary adenomas (FIPA) -- Recommendations for AIP Mutation Testing in FIPA and Sporadic Pituitary Adenomas -- X-Linked Acrogigantism (X-LAG) Syndrome -- Recommendations for Testing in X-LAG -- References -- Chapter 5 - Diabetes Insipidus.
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Introduction -- Types of diabetes insipidus -- Familial types of diabetes insipidus -- Autosomal Dominant FNDI -- Autosomal Recessive FNDI, Type C -- X-Linked Recessive NDI -- Autosomal Dominant/Recessive NDI -- Clinical diagnosis -- Genetic testing -- Which Gene to Test? -- Diagnostic Genetic Testing -- Presymptomatic Genetic Diagnosis in FNDI -- Genetic Testing in Individuals at Risk of Being Carriers -- Prenatal Genetic Diagnosis -- Available Laboratories and Resources -- References -- Chapter 6 - States of Pituitary Hypofunction -- Introduction -- Genetic pathophysiology -- Diagnosis, genetic testing, and interpretation -- Treatment -- References -- Part IV - Thyroid -- Chapter 7 - Congenital Defects of Thyroid Hormone Synthesis -- Introduction -- Pathophysiology and genetics of specific dyshormonogenesis defects -- Defect in Thyroidal Iodide Trapping - Gene: SLC5A5 (NIS) -- Defect in Efflux of Iodide Across the Apical Thyroid Cell Membrane - Gene: SLC26A4 (PDS) -- Defect in the Follicular Matrix Protein Providing Tyrosyl Groups for Iodide Organification - Gene: TG -- Defects in the Enzymes Required for Iodide Organification -- Defect in the Key Enzyme Catalyzing the Iodination and Coupling of Tyrosyl Moieties - Gene: TPO -- Defect in the NADPH-oxidase Providing Hydrogen Peroxide for TPO - Gene: DUOX2 (THOX2) -- Defect in the DUOX2 Cofactor - Gene: DUOXA2 -- Defect in Iodide Recycling with Secondary Iodide Deficiency - Gene: IYD (DEHAL1) -- Availability of genetic testing -- Conclusions -- Acknowledgment -- References -- Chapter 8 - Developmental Abnormalities of the Thyroid -- Introduction -- TSH receptor gene mutations (loss of function) -- PAX8 gene mutations -- TTF1/NKX2-1 gene mutations -- TTF2 (FOXE 1 or FKHL15) gene mutations -- GLIS3 gene mutations -- NKX2-5 gene mutations -- Syndromes associated with CH from thyroid dysgenesis.
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TSHR gene mutations (gain of function) -- Treatment -- Conclusions -- References -- Chapter 9 - Syndromes of Impaired Sensitivity to Thyroid Hormone -- Introduction -- Overview of described and putative defects in syndromes of impaired sensitivity to thyroid hormone -- Thyroid Hormone Cell Transport Defect (THCTD) -- Thyroid Hormone Metabolism Defect (THMD) -- Abnormal Hormone Transfer to the Nucleus -- Thyroid Hormone Receptor Defects Resulting in RTH -- Abnormal Cofactors or Interfering Substances -- "Nongenomic" Abnormalities -- Resistance to thyroid hormone (RTH) -- Background -- RTHb -- Incidence and Prevalence -- Clinical Features -- Laboratory Findings and Differential Diagnosis -- Genetic Pathophysiology -- Treatment -- NonTR-RTH -- RTHa -- Background, Incidence, and Prevalence -- Clinical Features -- Laboratory Findings and Differential Diagnosis -- Genetic Pathophysiology -- Treatment -- Thyroid hormone cell transporter defect -- Background, Incidence, and Prevalence -- Clinical Features -- Laboratory Findings -- Genetic Pathophysiology -- Treatment -- Thyroid hormone metabolism defect -- Background, Incidence, and Prevalence -- Clinical Features -- Laboratory Findings and Differential Diagnosis -- Genetic Pathophysiology -- Treatment -- References -- Chapter 10 - Molecular Diagnosis of Thyroid Cancer -- Introduction -- Oncogene rearrangements -- RET/PTC -- TRK -- ALK -- PAX8/PPARg -- Gene mutations -- RAS Isoforms -- BRAF Oncogene -- hTERT -- Other genetic alterations -- TP53 -- b-Catenin -- PI3KCA -- AKT1 -- IDH1 -- Epidermal Growth Factor Receptor -- Application of molecular findings to the clinical diagnosis of thyroid cancer -- Search of Oncogene Mutations -- Gene Expression Profiling -- miRNAs in thyroid lesions -- Microarray -- mRNA expression -- Conclusion -- References -- Part V - Parathyroid/Bone.
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Chapter 11 - Genetics of Hyperparathyroidism Including Parathyroid Cancer.
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English
Sprache:
Englisch
