Molecular genetics of endocrine disorders:
Gespeichert in:
| Format: | Buch |
|---|---|
| Sprache: | English |
| Veröffentlicht: |
London [u.a.]
Chapman & Hall Medical
1997
|
| Ausgabe: | 1. ed. |
| Schlagworte: | |
| Online-Zugang: | Inhaltsverzeichnis |
| Beschreibung: | XII, 489 S. Ill., graph. Darst. |
| ISBN: | 0412589702 |
Internformat
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| 245 | 1 | 0 | |a Molecular genetics of endocrine disorders |c ed. by R. V. Thakker |
| 250 | |a 1. ed. | ||
| 264 | 1 | |a London [u.a.] |b Chapman & Hall Medical |c 1997 | |
| 300 | |a XII, 489 S. |b Ill., graph. Darst. | ||
| 336 | |b txt |2 rdacontent | ||
| 337 | |b n |2 rdamedia | ||
| 338 | |b nc |2 rdacarrier | ||
| 650 | 7 | |a Endocrinologie |2 gtt | |
| 650 | 7 | |a Moleculaire genetica |2 gtt | |
| 650 | 4 | |a Endocrine System Diseases |x genetics | |
| 650 | 4 | |a Endocrine glands |x Diseases |x Genetic aspects | |
| 650 | 4 | |a Endocrine glands |x Diseases |x Molecular aspects | |
| 650 | 4 | |a Human molecular genetics | |
| 650 | 4 | |a Molecular Biology |x methods | |
| 650 | 0 | 7 | |a Molekularpathologie |0 (DE-588)4170396-0 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Endokrinopathie |0 (DE-588)4113435-7 |2 gnd |9 rswk-swf |
| 650 | 0 | 7 | |a Molekulargenetik |0 (DE-588)4039987-4 |2 gnd |9 rswk-swf |
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| 700 | 1 | |a Thakker, Rajesh V. |e Sonstige |4 oth | |
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Datensatz im Suchindex
| _version_ | 1804126332601237504 |
|---|---|
| adam_text | CONTENTS
Colour plates appear between pages 130 and 131
List of contributors xi
Preface xiii
1. Molecular genetics and inherited human disease 1
A. P. Read
The fundamental problem in human molecular genetics 1
Structure and malfunction of genes 2
Detection of specific DNA sequences 3
Genetic mapping: determining the chromosomal location of an unknown gene 6
Positional cloning 9
Screening a gene for mutations 10
Testing for a known mutation 13
2. Molecular pathology of growth hormone deficiency 17
/. S. Parks
Abstract 17
Introduction 18
Varieties of growth hormone deficiency and insensitivity 19
Growth hormone releasing hormone 19
The GH 1 gene 21
Mutations contributing to the syndrome of bioinactive growth hormone 26
Mechanisms responsible for IGHD III 27
Classification of multiple pituitary hormone deficiency 28
Conclusions 32
3. Kallmann s syndrome 39
E. I. Rugarli and A. Ballabio
Clinical features 39
Pathogenesis of Kallmann s syndrome: a neuronal migration defect 40
Genetics 42
The KAL gene 43
KAL gene structure and molecular diagnosis of Kallmann s syndrome 44
KAL and olfactory system development: a functional hypothesis 44
Kallmann s syndrome is a complex developmental disorder 46
4. Diabetes insipidus 51
B. A. van Oost and A. M. W. van den Ouiveland
Introduction 51
vi Contents
Central diabetes insipidus 52
Nephrogenic diabetes insipidus 55
Autosomal recessive NDI 62
Concluding remarks and some questions still to be resolved 64
5. Molecular aetiology of thyroid carcinomas 73
M. Santoro, M. Grieco, A. Fusco and G. Vecchio
Introduction: thyroid neoplasias 73
Activation of RET and TRK A oncogenes in papillary thyroid carcinomas 74
ras oncogene activation in thyroid tumours 77
Hyperfunctioning thyroid adenomas are characterized by thyrotropin receptor
and G protein mutations 78
Mutations of the tumour suppressor p53 gene are more frequent in undifferentiated
thyroid tumours 79
Other genetic alterations involved in the development of thyroid carcinomas 80
Conclusions 80
6. Resistance to thyroid hormone 85
S. Refetoff and R. E. Weiss
Thyroid physiology 85
Clinical classification 90
Incidence and inheritance 91
Aetiology and genetics 91
Pathogenesis 97
Pathology 98
Clinical features 98
Laboratory findings 101
Responses to the administration of thyroid hormone 102
Effects of other drugs 103
Molecular basis of the defect 105
Differential diagnosis 110
Treatment 111
7. Molecular genetics of parathyroid disorders 123
S. H. S. Pearce and R. V. Thakker
Introduction 123
PTH gene structure and function 123
Hypercalcaemic disorders 125
Hypocalcaemic disorders 137
Conclusions 144
8. Steroid hormone receptors and hormone resistance syndromes 153
G. R. Williams
Introduction 153
Steroid hormone receptor superfamily 153
Domain structure of receptors 155
Hormone response elements 160
Contents vii
Molecular mechanism of steroid receptor action 161
Control of receptor action 163
Hormone resistance and steroid receptor mutations 165
Future directions 172
9. Parathyroid hormone related protein and the humoral hypercalcaemia
of malignancy 183
T. ]. Martin, ]. Southby and M. T. Gillespie
PTHrP and hypercalcaemia of cancer 183
Isolation and cloning of PTHrP 184
Primary sequence of PTHrP 185
The PTHrP gene 187
Actions of PTHrP 196
PTHrP and the skeletal complications of cancer 196
PTHrP and hypercalcaemia in non malignant states 199
PTHrP in normal physiology 200
10. G proteins 211
W. F. Schwindinger and M. A. Levine
Guanine nucleotide regulatory proteins 211
Activating mutations of a subunits 215
McCune Albright syndrome 217
AHO, PHP and pseudoPHP 221
A novel overlap syndrome 224
11. Molecular mechanisms of insulin resistance 231
A. Krook, P. Humphreys and S. O Rahilly
Introduction 231
Insulin action 231
Molecular basis for syndromes of severe insulin resistance 234
Insulin resistant syndromes associated with insulin receptor defects 243
Other syndromes associated with insulin resistance 244
Other potential molecular mechanisms of insulin resistance 245
Conclusions 248
12. Genetics of adrenal steroid biosynthesis 257
G. Rumsby and }. W. Honour
Introduction 257
Regulation of adrenal steroid biosynthesis 259
Tissue specific expression 260
Congenital adrenal hyperplasia 261
Diagnostic implications of genetic analysis 267
Detection of carriers 268
113 Hydroxylase/aldosterone synthase 268
Adrenal hypoplasia congenita 271
viii Contents
13. Genetics of phaeochromocytoma 279
E. R. Maker and C. Eng
Inherited predisposition to phaeochromocytoma 279
Molecular genetics of non familial phaeochromocytoma 285
14. Molecular genetics of human hypertension 291
P. Corvol, F. Soubrier and X. Jeunemaitre
Introduction 291
Monogenic forms of hypertension: glucocorticoid suppressible hypertension and
Liddle s syndrome 292
Molecular genetics of the renin angiotensin system in human essential hypertension 294
Conclusion 301
15. The genetic basis of human pituitary gonadal disorders 307
B. C. J. M. Fauser and A.}. W. Hsueh
Gonadotropin gene abnormalities 308
Gonadotropin receptor abnormalities 309
Steroid synthesis abnormalities 311
Inhibin and gonadal tumour development 316
Conclusions 317
16. Disorders of sexual development 323
I. A. Hughes
Embryology of sex differentiation 323
Genetic control of gonadal differentiation 326
Genetic regulation by the differentiated gonad 328
Genetics of androgen metabolism 333
Other genetic causes of virilization in females 336
Disorders associated with resistance to the action of sex steroids 336
Oestrogen insensitivity 341
17. Genetic basis of the hyperlipidaemias 349
/. N. M. Day and S. E. Humphries
Introduction 349
Genetic basis of the primary hyperlipidaemias classified by Fredrickson 349
Future prospects 361
18. Autoimmunity and the molecular genetics of the organ specific
autoimmune diseases 371
A. M. McGregor
Introduction 371
Tolerance 372
Antigen processing and presentation 373
Peptide association with MHC molecules 374
T cells and the T cell receptor 375
Cytokines, T lymphocyte function and autoimmunity 376
Antigen targets in autoimmune disease 377
Pathogenetic effector mechanisms in the development of autoimmune disease 380
Contents ix
Genetic predisposition 382
Conclusions 384
19. The PTH/PTHrP receptor: one receptor for two ligands 389
H. M. Kronenberg, A. B. Abou Samra, F. R. Bringhurst, T.}. Gardella, H. Jiippner
and G. V. Segre
Introduction 389
Characterization of cloned PTH/PTHrP receptors 390
Structural basis of PTH/PTHrP receptor function 391
Tissue specific expression of the PTH/PTHrP receptor gene 397
Cellular responses to messenger signals transduced by the PTH/PTHrP receptor 398
Regulation of expression of the PTH/PTHrP receptor 404
Ablation of the PTHrP gene in vivo 409
Conclusion 413
20. Adrenoleucodystrophy 421
H. W. Moser and K. D. Smith
Clinical features 421
Neurological manifestations 421
Endocrine changes 422
Frequency and distribution of phenotypes 423
Biochemical abnormalities 423
Enzymatic basis for VLCFA excess 424
Diagnosis 425
Role of VLCFA in the pathogenesis of X ALD 426
Treatment 427
Genetics 428
21. Inherited hypophosphataemic rickets 439
D. Trump and R. V. Thakker
X linked hypophosphataemic rickets (HYP) 439
The oculocerebrorenal syndrome of Lowe 448
Dent s disease 448
Vitamin D dependent rickets 453
Conclusion 456
Index 465
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| spelling | Molecular genetics of endocrine disorders ed. by R. V. Thakker 1. ed. London [u.a.] Chapman & Hall Medical 1997 XII, 489 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Endocrinologie gtt Moleculaire genetica gtt Endocrine System Diseases genetics Endocrine glands Diseases Genetic aspects Endocrine glands Diseases Molecular aspects Human molecular genetics Molecular Biology methods Molekularpathologie (DE-588)4170396-0 gnd rswk-swf Endokrinopathie (DE-588)4113435-7 gnd rswk-swf Molekulargenetik (DE-588)4039987-4 gnd rswk-swf (DE-588)4143413-4 Aufsatzsammlung gnd-content Endokrinopathie (DE-588)4113435-7 s DE-604 Molekulargenetik (DE-588)4039987-4 s Molekularpathologie (DE-588)4170396-0 s Thakker, Rajesh V. Sonstige oth HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=007957844&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
| spellingShingle | Molecular genetics of endocrine disorders Endocrinologie gtt Moleculaire genetica gtt Endocrine System Diseases genetics Endocrine glands Diseases Genetic aspects Endocrine glands Diseases Molecular aspects Human molecular genetics Molecular Biology methods Molekularpathologie (DE-588)4170396-0 gnd Endokrinopathie (DE-588)4113435-7 gnd Molekulargenetik (DE-588)4039987-4 gnd |
| subject_GND | (DE-588)4170396-0 (DE-588)4113435-7 (DE-588)4039987-4 (DE-588)4143413-4 |
| title | Molecular genetics of endocrine disorders |
| title_auth | Molecular genetics of endocrine disorders |
| title_exact_search | Molecular genetics of endocrine disorders |
| title_full | Molecular genetics of endocrine disorders ed. by R. V. Thakker |
| title_fullStr | Molecular genetics of endocrine disorders ed. by R. V. Thakker |
| title_full_unstemmed | Molecular genetics of endocrine disorders ed. by R. V. Thakker |
| title_short | Molecular genetics of endocrine disorders |
| title_sort | molecular genetics of endocrine disorders |
| topic | Endocrinologie gtt Moleculaire genetica gtt Endocrine System Diseases genetics Endocrine glands Diseases Genetic aspects Endocrine glands Diseases Molecular aspects Human molecular genetics Molecular Biology methods Molekularpathologie (DE-588)4170396-0 gnd Endokrinopathie (DE-588)4113435-7 gnd Molekulargenetik (DE-588)4039987-4 gnd |
| topic_facet | Endocrinologie Moleculaire genetica Endocrine System Diseases genetics Endocrine glands Diseases Genetic aspects Endocrine glands Diseases Molecular aspects Human molecular genetics Molecular Biology methods Molekularpathologie Endokrinopathie Molekulargenetik Aufsatzsammlung |
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