Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis / Edition 2 by Charles J. Epstein | 9780195306910 | Hardcover | Barnes & Noble
Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis / Edition 2

Inborn Errors of Development: The Molecular Basis of Clinical Disorders of Morphogenesis / Edition 2

by Charles J. Epstein
     
 

ISBN-10: 0195306910

ISBN-13: 9780195306910

Pub. Date: 04/09/2008

Publisher: Oxford University Press, USA

Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at

Overview

Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.

Product Details

ISBN-13:
9780195306910
Publisher:
Oxford University Press, USA
Publication date:
04/09/2008
Series:
Oxford Monographs on Medical Genetics Series
Pages:
1664
Product dimensions:
11.20(w) x 8.80(h) x 2.60(d)

Table of Contents

Contributorsxvii
IGeneral Concepts
1.Human Malformations and Their Genetic Basis3
2.General Principles of Differentiation and Morphogenesis10
3.Model Organisms in the Study of Development and Disease25
4.Consequences of the Genome Project for Understanding Development46
IIPatterns of Development
5.Development Origins of the Mammalian Body Plan53
6.Neural Crest Formation and Craniofacial Development67
7.Development of the Nervous System75
8.Development of the Ear89
9.Development of the Heart and Vasculogenesis107
10.Development of Muscle and Somites120
11.Development of Bone and Cartilage133
12.Development of the Limbs148
13.Development of the Genitourinary System168
14.Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut182
15.Development of Epidermal Appendages: Teeth and Hair199
IIIDefined Pathways
Part A.The Sonic Hedgehog Signaling Pathway
16.An Introduction to Sonic Hedgehog Signaling210
17.DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis229
18.SHH and Holoprosencephaly240
19.PTCH and the Basal Cell Nevus (Gorlin) Syndrome249
20.GLI3 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes257
21.SALL1 and the Townes-Brocks Syndrome265
Part B.The Wnt (Wingless-Type) Signaling Pathway
22.Wnt Signaling Pathways272
23.WISP3 and Progressive Pseudorheumatoid Dysplasia282
Part C.The Transforming Growth Factor [beta] (TGF-[beta]) Signaling Pathway
24.An Introduction to TGF-[beta]-Related Signaling285
25.NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis296
26.ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies300
27.CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C314
28.ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis319
29.RUNX2 and Cleidocranial Dysplasia331
Part D.The Tumor Necrosis Factor Signaling Pathway
30.Signaling by TNF and Related Ligands340
31.ED1, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and the Ectodysplasin Signaling Pathway359
Part E.The Fibroblast Growth Factor Signaling Pathway
32.Molecular and Cellular Biology of FGF Signaling367
33.FGFs/FGFRs and Associated Disorders380
34.TWIST and the Saethre-Chotzen Syndrome401
Part F.The Glial Cell-Derived Neurotrophic Factor Signaling Pathway
35.Signaling Pathways of Glial Cell-Derived Neurotrophic Factor410
36.RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2421
Part G.The Endothelin Signaling Pathway
37.Introduction to Endothelin-3/Endothelin-B Receptor and SOX10 Signaling Pathways433
38.EDNRB, EDN3, and SOX10 and the Shah-Waardenburg Syndrome440
Part H.The Notch Signaling Pathway
39.Introduction to Notch Signaling447
40.JAG1 and the Alagille Syndrome461
41.DLL3 and Spondylocostal Dysostosis470
Part I.The Sex Determination Pathway
42.Introduction to the Sex Determination Pathway: Mutations in Many Genes Lead to Sexual Ambiguity and Reversal482
43.SOX9 and Campomelic Dysplasia and Sex Reversal492
44.AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent Mullerian Derivatives497
45.DAX1 and X-Linked Adrenal Hypoplasia Congenita and XY Sex Reversal502
IVGene Families Not Yet in Pathways
Part A.The Homeobox Gene Family
46.The Role of Hox and Dlx Gene Clusters in Evolution and Development515
47.HOXD13 and Synpolydactyly521
48.HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes529
49.Transcription Factors Involved in Disorders of Forebrain and Pituitary Development540
50.IDX1 and Pancreatic Agenesis and Type 2 Diabetes552
51.MSX1 and Partial Anodontia, Orofacial Clefting, and the Witkop Syndrome557
52.MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification568
53.SHOX and Dyschondrosteosis and the Turner Syndrome572
54.HLXB9 and Sacral Agenesis and the Currarino Syndrome578
55.EYA1 and the Branchio-Oto-Renal Syndrome588
56.PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis599
57.CSX/NKX2-5 and Congenital Heart Disease607
58.LMX1B and the Nail Patella Syndrome615
Part B.The Paired-Box (PAX) Gene Pathway
59.Introduction to Paired-Box Genes625
60.PAX2 and the Renal-Coloboma Syndrome633
61.PAX3 and the Waardenburg Syndrome Type 1643
62.PAX6 and Aniridia and Related Phenotypes649
63.PAX9 and Hypodontia658
Part C.The Forkhead Gene Family
64.Introduction to Forkhead Genes664
65.FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome671
66.FOXC2 and Lymphedema Distichiasis681
Part D.The T-Box Gene Family
67.Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways686
68.TBX1 and the DiGeorge Syndrome Critical Region699
69.TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes705
VProcesses
Part A.Regulation of Chromatin Structure and Gene Expression
70.Mechanisms of Regulated Gene Transcription719
71.CBP and the Rubinstein-Taybi Syndrome728
72.ATRX and the X-Linked [alpha]-Thalassemia Mental Retardation Syndrome747
73.IGF2, H19, p57[superscript KIP2], and LIT1 and the Beckwith-Wiedemann Syndrome758
74.15q11-13 and the Prader-Willi Syndrome766
75.DNMT3B and the Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome776
76.RSK2 and the Coffin-Lowry Syndrome780
Part B.Transcription Factors
77.MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes789
78.POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3)792
79.TFAP2B and the Char Syndrome798
Part C.Posttranslational Control and Ubiquination
80.An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis804
81.UBE3A and the Angelman Syndrome815
82.VHL and von Hippel-Lindau Disease823
83.MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes828
Part D.Guanine Nucleotide-Binding Proteins
84.An Introduction to Guanine Nucleotide-Binding Proteins832
85.GNAS and McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB849
86.FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome)867
87.NF1 and Neurofibromatosis 1879
Part E.Kinases and Phosphatases
88.ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome886
89.PTPN11 and the Noonan Syndrome895
Part F.Microtubule Motors and Cytoskeleton
90.Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration904
91.TSC1 and TSC2 and Tuberous Sclerosis910
92.LIS1 and DCX and Classical Lissencephaly920
93.RELN and Lissencephaly with Cerebellar Hypoplasia931
94.DNAI1 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome934
Part G.Extracellular Matrix
95.Extracellular Matrix and Signaling during Development946
96.GPC3 and the Simpson-Golabi-Behmel Syndrome951
97.HSPG2 (Perlecan) and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type957
98.L1CAM and X-Linked Hydrocephalus966
99.COMP and Pseudoachondroplasia970
100.MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome977
Part H.Angiogenesis
101.Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and Vascular Endothelial Growth Factor Receptors987
102.VEGFR3 and Milroy Disease997
Part I.Transporters
103.KCNJ2 (Kir2.1) and Andersen Syndrome1001
104.ANKH and Craniometaphyseal Dysplasia1007
VIDysmorphic Disease Genes of Unknown Function
105.p63 and the Ectodermal Dysplasia, Ectrodactyly, and Cleft Lip and/or Palate (EEC), Limb-Mammary (LMS), Ankyloblepharon, Ectrodactyly, and Cleft Lip/Palate (AEC, Hay-Wells), and Acro-Dermato-Ungual-Lacrimal-Digit (ADULT) Syndromes and Ectrodactyly (Split Hand/Foot Malformation)1017
106.TCOF1 (Treacle) and the Treacher Collins Syndrome1027
107.LMBR1 and Acheiropodia and Preaxial Polydactyly1038
108.BBS Genes and the Bardet-Biedl Syndrome1044
Index1051

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