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  • 1
    Schlagwort(e): Electronic books.
    Materialart: Online-Ressource
    Seiten: 1 online resource (247 pages)
    Ausgabe: 1st ed.
    ISBN: 9783318022704
    Serie: Nestlé Nutrition Institute Workshop Series ; v.71
    Sprache: Englisch
    Anmerkung: Cover -- Front Matter -- Contents -- Preface -- Foreword -- Contributors -- Drivers of Growth -- Early Influences of Nutrition on FetalGrowth -- Abstract -- Macronutrient Interventions That Have Varied Energy -- Nutrient Interventions That Do Not Vary Energy -- Conclusions -- References -- Early Influences of Nutritionon Postnatal Growth -- Abstract -- Postnatal Diet, Growth Patterns, and the Later Risk of Obesity and Related Non-Communicable Diseases -- Protective Effects of Breastfeeding on Obesity Risk in Later Life -- Mechanisms of Protective Effects of Breastfeeding: The 'Early Protein Hypothesis' -- Biochemical and Endocrine Markers -- Conclusions -- Appendix -- Acknowledgements -- References -- Genome-Wide Association Studies of Human Growth Traits -- Abstract -- Introduction -- The First Successes for GWA Studies of Growth Traits - FTO and HMGA2 -- Increasing Sample Size by Collaboration and Meta-Analysis Identifies Hundreds of Loci for Adult Height and Other Anthropometric Traits -- GWA Studies of Early Growth -- GWA Studies of Pubertal Growth -- The Genetics of Growth Is More Complex Than Previously Appreciated -- What GWA Studies Have Not Told Us - The Missing Heritability -- Conclusions -- References -- Discussion on Nutrition and Genetics -- Nutrition -- Genetics -- IGF- I in Human Growth: Lessons from Defects in the GH-IGF-I Axis -- Abstract -- Normal Human Growth Is Dependent on IGF-I -- The Human GH-IGF-I Axis in Human Growth -- Defects in the GH-IGF Axis: What Gene Analyses Reveal -- Conclusions -- References -- Non-Imprinted Epigenetics in Fetal and Postnatal Development and Growth -- Abstract -- References -- Epigenetic Anomalies in Childhood Growth Disorders -- Abstract -- Introduction -- Russell-Silver Syndrome -- Beckwith-Wiedemann Syndrome -- Human Multilocus Imprinting Disorders. , Assisted Reproductive Technologies and Loss of Imprinting -- Conclusion -- References -- Early Growth and Development of Later Life Metabolic Disorders -- Abstract -- Introduction -- Physiology of Growth -- Epidemiological Evidence of Early-Life Developmental Programming -- Genetic Factors Modulating Growth and Metabolic Disorder -- Epigenetic Programming -- Other Postulated Mechanisms -- Leptin and the GH-IGF Axis -- Uncertainties -- References -- Summary on Drivers of Growth -- Secular Trends in Growth -- Human Growth: Evolutionary and Life History Perspectives -- Abstract -- Some General Evolutionary Principles -- The Role of Developmental Plasticity -- Life History Theory -- Heritability, Genetics, Non-Genetic Inheritance and Phenotypic-Driven Evolution -- An Evolutionary and Life History Perspective on Human Growth -- Puberty -- Adolescence -- Final Remarks -- Appendix -- Acknowledgements -- References -- Secular Trends in Birthweight -- Abstract -- Introduction -- Trends in Mean Birthweight, Low Birthweight, and High Birthweight -- Gestation Length and Its Determinants -- Fetal Growth and Its Determinants -- Discussion -- Conclusion -- References -- Secular Changes in Childhood, Adolescent and Adult Stature -- Abstract -- Etymology and Usage of 'Secular' -- Secular Changes in Childhood, Adolescence and Adulthood -- Changes in Body Proportions -- Possible and Likely Causes of Secular Changes -- The Case of the Maya -- Is Adult Height Determined by the Age of 2 Years? -- Intergenerational Inertia, Epigenetic Assimilation and Secular Change -- Acknowledgement -- References -- Discussion on Human Biology in Motion -- References -- Economic Drivers and Consequences of Stunting -- Abstract -- Introduction -- Areas of Synergy between Economics and Nutrition -- Role of Income Growth in Addressing Nutrition. , Some Implications of the Double Burden of Malnutrition -- Additional Perspective: Are We Targeting the Right Outcome? -- Acknowledgements -- References -- Discussion on Economic Drivers and Consequences of Stunting -- Epidemiologic Transitions: Migration and Development of Obesity and Cardiometabolic Disease in the Developing World -- Abstract -- Introduction -- Obesity and Comorbidities -- Energy Balance: Activity Energy Expenditure and Population Weight Gain -- Energy Balance: Dietary Energy Intake and Population Weight Gain -- Conclusions -- References -- Discussion on Migration and Development of Obesity and Cardiometabolic Disease in theDeveloping World -- References -- What Is Healthy Growth? -- State of the Art of Growth Standards -- Abstract -- Introduction -- Early History of Child Rearing and Anthropometry -- Early History of Weighing and Charting -- French Consultations de Nourrissons and Gouttes de Lait -- Variability of Growth in 20th Century -- Universal but Provisional Growth Standards -- Conclusions -- References -- Healthy Infant Growth: What Are the Trade-Offs in the Developed World? -- Abstract -- Overview of Trade-Offs -- Trade-Offs for Full-Term Infants -- Trade-Offs for Preterm Infants -- Trade-Offs for SGA Infants -- Conclusions and Recommendations for Future Research -- References -- Discussion on Growth Standards and Trade-Offs in Healthy Infant Growth -- Introduction -- Describing Infant Growth -- Interpreting Infant Growth -- Recommendations for Research -- References -- Relationship between Childhood Growth and Later Outcomes -- Abstract -- References -- Public Policy Implications of Promoting Growth -- Abstract -- Complexity and Norms of Reaction -- Predictive Utility and the Scale of Impact -- Amenability to Intervention -- Constructing a Policy Response -- Enhancing the Knowledge Base -- Crafting Social Strategies. , Building Political Will -- References -- Pharmacological Interventions for Short Stature: Pros and Cons -- Abstract -- The Growth Hormone Era -- Efficacy -- Cost -- Safety -- Conclusions -- References -- Discussion on Childhood Growth and Later Outcomes, Policy Implications and Treatment of Short Stature -- References -- Concluding Remarks -- Subject Index -- Cover.
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  • 2
    Publikationsdatum: 2012-12-29
    Beschreibung: The first genetic defect in human signal transducer and activator of transcription (STAT)5b was identified in an individual with profound short stature and GH insensitivity, immune dysfunction, and severe pulmonary disease, and was caused by an alanine to proline substitution (A630P) within the Src homology-2 (SH2) domain. STAT5bA630P was found to be an inactive transcription factor based on its aberrant folding, diminished solubility, and propensity for aggregation triggered by its misfolded SH2 domain. Here we have characterized the second human STAT5b amino acid substitution mutation in an individual with similar pathophysiological features. This single nucleotide transition, predicted to change phenyalanine 646 to serine (F646S), also maps to the SH2 domain. Like STAT5bA630P, STAT5bF646S is prone to aggregation, as evidenced by its detection in the insoluble fraction of cell extracts, the presence of dimers and higher-order oligomers in the soluble fraction, and formation of insoluble cytoplasmic inclusion bodies in cells. Unlike STAT5bA630P, which showed minimal GH-induced tyrosine phosphorylation and no transcriptional activity, STAT5bF646S became tyrosine phosphorylated after GH treatment and could function as a GH-activated transcription factor, although to a substantially lesser extent than STAT5bWT. Biochemical characterization demonstrated that the isolated SH2 domain containing the F646S substitution closely resembled the wild-type SH2 domain in secondary structure, but exhibited reduced thermodynamic stability and altered tertiary structure that were intermediate between STAT5bA630P and STAT5bWT. Homology-based structural modeling suggests that the F646S mutation disrupts key hydrophobic interactions and may also distort the phosphopeptide-binding face of the SH2 domain, explaining both the reduced thermodynamic stability and impaired biological activity.
    Schlagwort(e): TRANSLATIONAL RESEARCH IN ENDOCRINOLOGY AND METABOLISM, Translational Highlights from MEND
    Print ISSN: 0888-8809
    Digitale ISSN: 1944-9917
    Thema: Biologie , Medizin
    Publiziert von The Endocrine Society
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 3
    Digitale Medien
    Digitale Medien
    Springer
    European journal of pediatrics 142 (1984), S. 186-188 
    ISSN: 1432-1076
    Schlagwort(e): Pituitary dwarfism ; Pseudopituitary dwarfism ; Growth hormone ; Somatomedin ; Receptor defects
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The case of an infant is described who at birth was already small and postnatally grew extremely slowly. At age 3 the girl's height was 65 cm, weight 5.6 kg, bone age 21 months. Basal plasma GH was 36–66 ng/ml, basal SM activity was rather high, being around 2.0 U/ml. RIA- and RRA-SM were also increased. Prolonged GH administration did not raise plasma SM. There was a tendency for hypoglycemic episodes in the presence of low insulin levels. Receptor studies with skin fibroblasts showed a diminution of the specific binding of SM-C by 50%. Apparently only the specific IGF-receptor is defective whereas the insulin receptor responds to the increased SM with hypoglycemia. The observation that the high plasma SM did not suppress the enhanced GH-secretion suggests that perhaps the hypothalamic IGF-receptor was also defective.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 4
    Digitale Medien
    Digitale Medien
    Springer
    World journal of urology 13 (1995), S. 306-311 
    ISSN: 1433-8726
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary The insulin-like growth factor (IGF) system is involved in the regulation of cell growth. The system involves a network of molecules that includes the IGFs themselves (IGF-I and -II), IGF receptors (types I and II), IGF-binding proteins (IGFBP-1 through -6), and IGFBP proteases. Characterization of this complex system in the prostate has recently been initiated. Prostatic cell lines as well as primary cultures of prostatic epithelial and stromal cells have been analyzed for expression of IGFs, receptors, and IGFBPs. Prostatic epithelial cells and, quite likely, stromal cells as well respond to the mitogenic activity of IGFs via the type I IGF receptor. Prostatic stromal cells synthesize and secrete IGF-II; there is evidence that prostatic cell lines also synthesize IGFs, but this has not been confirmed in primary cultures of prostatic epithelial cells. Prostatic stromal and epithelial cells secrete a number of IGFBPs. The biological impact of some of these IGFBPs on the growth of prostatic cells has been examined, and proteolytic cleavage of IGFBP-3 by prostate-specific antigen (PSA) has been demonstrated. Aberrations in several elements of the IGF system have been observed in stromal cells derived from benign prostatic hyperplasia (BPH). The IGF system may therefore have a part in the etiology of BPH as well as in normal and malignant processes in the prostate.
    Materialart: Digitale Medien
    Standort Signatur Einschränkungen Verfügbarkeit
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