Inborn errors of development : the molecular basis of clinical disorders on morphogenesis /
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| Imprint: | New York : Oxford University Press, 2004. |
|---|---|
| Description: | xxiv, 1082 p. : ill. (some col.) ; 29 cm. |
| Language: | English |
| Series: | Oxford monographs on medical genetics ; no. 49 |
| Subject: | |
| Format: | Print Book |
| URL for this record: | http://pi.lib.uchicago.edu/1001/cat/bib/5056710 |
Table of Contents:
- Contributors
- I. General Concepts
- 1.. Human Malformations and Their Genetic Basis
- 2.. General Principles of Differentiation and Morphogenesis
- 3.. Model Organisms in the Study of Development and Disease
- 4.. Consequences of the Genome Project for Understanding Development
- II. Patterns of Development
- 5.. Development Origins of the Mammalian Body Plan
- 6.. Neural Crest Formation and Craniofacial Development
- 7.. Development of the Nervous System
- 8.. Development of the Ear
- 9.. Development of the Heart and Vasculogenesis
- 10.. Development of Muscle and Somites
- 11.. Development of Bone and Cartilage
- 12.. Development of the Limbs
- 13.. Development of the Genitourinary System
- 14.. Development of Endodermal Derivatives in the Lung, Liver, Pancreas, and Gut
- 15.. Development of Epidermal Appendages: Teeth and Hair
- III. Defined Pathways
- Part A.. The Sonic Hedgehog Signaling Pathway
- 16.. An Introduction to Sonic Hedgehog Signaling
- 17.. DHCR7 and the Smith-Lemli-Opitz (RSH) Syndrome and Cyclopamine Teratogenesis
- 18.. SHH and Holoprosencephaly
- 19.. PTCH and the Basal Cell Nevus (Gorlin) Syndrome
- 20.. GLI3 and the Pallister-Hall and Greig Cephalopolysyndactyly Syndromes
- 21.. SALL1 and the Townes-Brocks Syndrome
- Part B.. The Wnt (Wingless-Type) Signaling Pathway
- 22.. Wnt Signaling Pathways
- 23.. WISP3 and Progressive Pseudorheumatoid Dysplasia
- Part C.. The Transforming Growth Factor [beta] (TGF-[beta]) Signaling Pathway
- 24.. An Introduction to TGF-[beta]-Related Signaling
- 25.. NOG and Proximal Symphalangisms, Multiple Synostosis Syndrome, Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis
- 26.. ZIC3, CFC1, ACVR2B, and EBAF and the Visceral Heterotaxies
- 27.. CDMP1 and Chondrodysplasia (Grebe, Hunter-Thompson, and Du Pan Types) and Brachydactyly, Type C
- 28.. ENG and ALK1 and Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome) and Vascular Morphogenesis
- 29.. RUNX2 and Cleidocranial Dysplasia
- Part D.. The Tumor Necrosis Factor Signaling Pathway
- 30.. Signaling by TNF and Related Ligands
- 31.. ED1, EDAR, and EDARADD and the Hypohidrotic Ectodermal Dysplasias and the Ectodysplasin Signaling Pathway
- Part E.. The Fibroblast Growth Factor Signaling Pathway
- 32.. Molecular and Cellular Biology of FGF Signaling
- 33.. FGFs/FGFRs and Associated Disorders
- 34.. TWIST and the Saethre-Chotzen Syndrome
- Part F.. The Glial Cell-Derived Neurotrophic Factor Signaling Pathway
- 35.. Signaling Pathways of Glial Cell-Derived Neurotrophic Factor
- 36.. RET and Hirschsprung Disease and Multiple Endocrine Neoplasia Type 2
- Part G.. The Endothelin Signaling Pathway
- 37.. Introduction to Endothelin-3/Endothelin-B Receptor and SOX10 Signaling Pathways
- 38.. EDNRB, EDN3, and SOX10 and the Shah-Waardenburg Syndrome
- Part H.. The Notch Signaling Pathway
- 39.. Introduction to Notch Signaling
- 40.. JAG1 and the Alagille Syndrome
- 41.. DLL3 and Spondylocostal Dysostosis
- Part I.. The Sex Determination Pathway
- 42.. Introduction to the Sex Determination Pathway: Mutations in Many Genes Lead to Sexual Ambiguity and Reversal
- 43.. SOX9 and Campomelic Dysplasia and Sex Reversal
- 44.. AMH/MIS and Its Receptors and Sexual Ambiguity and Persistent Mullerian Derivatives
- 45.. DAX1 and X-Linked Adrenal Hypoplasia Congenita and XY Sex Reversal
- IV. Gene Families Not Yet in Pathways
- Part A.. The Homeobox Gene Family
- 46.. The Role of Hox and Dlx Gene Clusters in Evolution and Development
- 47.. HOXD13 and Synpolydactyly
- 48.. HOXA13 and the Hand-Foot-Genital and Guttmacher Syndromes
- 49.. Transcription Factors Involved in Disorders of Forebrain and Pituitary Development
- 50.. IDX1 and Pancreatic Agenesis and Type 2 Diabetes
- 51.. MSX1 and Partial Anodontia, Orofacial Clefting, and the Witkop Syndrome
- 52.. MSX2 and ALX4 and Craniosynostosis and Defects in Skull Ossification
- 53.. SHOX and Dyschondrosteosis and the Turner Syndrome
- 54.. HLXB9 and Sacral Agenesis and the Currarino Syndrome
- 55.. EYA1 and the Branchio-Oto-Renal Syndrome
- 56.. PITX2 and PITX3 and the Axenfeld-Rieger Syndrome, Iridogoniodysgenesis and Iris Hypoplasia, Peters Anomaly, and Anterior Segment Ocular Dysgenesis
- 57.. CSX/NKX2-5 and Congenital Heart Disease
- 58.. LMX1B and the Nail Patella Syndrome
- Part B.. The Paired-Box (PAX) Gene Pathway
- 59.. Introduction to Paired-Box Genes
- 60.. PAX2 and the Renal-Coloboma Syndrome
- 61.. PAX3 and the Waardenburg Syndrome Type 1
- 62.. PAX6 and Aniridia and Related Phenotypes
- 63.. PAX9 and Hypodontia
- Part C.. The Forkhead Gene Family
- 64.. Introduction to Forkhead Genes
- 65.. FOXC1 and FOXL2 and the Axenfeld-Rieger Malformations and the Blepharophomisis, Ptosis, and Epicanthus Inversus Syndrome
- 66.. FOXC2 and Lymphedema Distichiasis
- Part D.. The T-Box Gene Family
- 67.. Introduction to the T-Box Genes and Their Roles in Developmental Signaling Pathways
- 68.. TBX1 and the DiGeorge Syndrome Critical Region
- 69.. TBX3 and TBX5 and the Ulnar-Mammary and Holt-Oram Syndromes
- V. Processes
- Part A.. Regulation of Chromatin Structure and Gene Expression
- 70.. Mechanisms of Regulated Gene Transcription
- 71.. CBP and the Rubinstein-Taybi Syndrome
- 72.. ATRX and the X-Linked [alpha]-Thalassemia Mental Retardation Syndrome
- 73.. IGF2, H19, p57[superscript KIP2], and LIT1 and the Beckwith-Wiedemann Syndrome
- 74.. 15q11-13 and the Prader-Willi Syndrome
- 75.. DNMT3B and the Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome
- 76.. RSK2 and the Coffin-Lowry Syndrome
- Part B.. Transcription Factors
- 77.. MITF and the Waardenburg Type II and Albinism-Deafness (Tietz) Syndromes
- 78.. POU3F4 and Mixed Deafness with Temporal Bone Defect (DFN3)
- 79.. TFAP2B and the Char Syndrome
- Part C.. Posttranslational Control and Ubiquination
- 80.. An Introduction to Posttranslational Control by Ubiquitin-Dependent Proteolysis
- 81.. UBE3A and the Angelman Syndrome
- 82.. VHL and von Hippel-Lindau Disease
- 83.. MKKS and the McKusick-Kaufman and Bardet-Biedl Syndromes
- Part D.. Guanine Nucleotide-Binding Proteins
- 84.. An Introduction to Guanine Nucleotide-Binding Proteins
- 85.. GNAS and McCune-Albright Syndrome/Fibrous Dysplasia, Albright Hereditary Osteodystrophy/Pseudohypoparathyroidism Type IA, Progressive Osseous Heteroplasia, and Pseudohypoparathyroidism Type IB
- 86.. FGD1 and Faciogenital Dysplasia (Aarskog-Scott Syndrome)
- 87.. NF1 and Neurofibromatosis 1
- Part E.. Kinases and Phosphatases
- 88.. ROR2 and Brachydactyly Type B and Recessive Robinow Syndrome
- 89.. PTPN11 and the Noonan Syndrome
- Part F.. Microtubule Motors and Cytoskeleton
- 90.. Microtubule Motors: Intracellular Transport, Cell Division, Ciliary Movement, and Nuclear Migration
- 91.. TSC1 and TSC2 and Tuberous Sclerosis
- 92.. LIS1 and DCX and Classical Lissencephaly
- 93.. RELN and Lissencephaly with Cerebellar Hypoplasia
- 94.. DNAI1 and DNAH5 and Primary Ciliary Dyskinesia or Kartagener Syndrome
- Part G.. Extracellular Matrix
- 95.. Extracellular Matrix and Signaling during Development
- 96.. GPC3 and the Simpson-Golabi-Behmel Syndrome
- 97.. HSPG2 (Perlecan) and the Schwartz-Jampel Syndrome and Dyssegmental Dysplasia, Silverman-Handmaker Type
- 98.. L1CAM and X-Linked Hydrocephalus
- 99.. COMP and Pseudoachondroplasia
- 100.. MMP2 and the Multicentric Osteolysis with Nodulosis and Arthritis Syndrome
- Part H.. Angiogenesis
- 101.. Angiopoietins, TIEs, Ephrins, Vascular Endothelial Growth Factors, and Vascular Endothelial Growth Factor Receptors
- 102.. VEGFR3 and Milroy Disease
- Part I.. Transporters
- 103.. KCNJ2 (Kir2.1) and Andersen Syndrome
- 104.. ANKH and Craniometaphyseal Dysplasia
- VI. Dysmorphic 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)
- 106.. TCOF1 (Treacle) and the Treacher Collins Syndrome
- 107.. LMBR1 and Acheiropodia and Preaxial Polydactyly
- 108.. BBS Genes and the Bardet-Biedl Syndrome
- Index
