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Chi tiết tài liệu

Molecular Genetics of Pediatric Orthopaedic Disorders

Tác giả: Wise, Carol; Rios, Jonathan

Chủ đề:

Chủ đề: Medicine; Molecular Genetics; Pediatric Orthopaedic

Nhà xuất bản: Springer

Năm xuất bản: 2015

Loại tài liệu: Book

Mô tả vật lý: 173 p.

Định danh: 978-1-4939-2169-0

Ngôn ngữ: en

Đọc trực tuyến

Tải tài liệu

In the past two decades we have seen a surge forward in understanding the genetics and biochemistry underlying many pediatric orthopaedic disorders. A few projects have even progressed into the realm of clinical trials that are primarily aimed at controlling progressive disease. Meanwhile, genomic technology development has outpaced expectations and is enabling gene discovery for disorders that were previously intractable with traditional genetic methods. Included in this latter category are common disorders that display multigenic inheritance, sporadic disorders, and very rare conditions that are difficult to ascertain.

Cover
Half-title pages
Title pages
Copyright
Dedication
Preface
References
Contents
Contributors
Overview of Next Generation, High-Throughput Molecular Genetic Methods
- Introduction
- Microarray-Based Genotyping and Analysis
  - CNVs Associated with Orthopaedic Disorders
  - Copy Number Variation
  - Homozygosity Mapping
  - Homozygosity Mapping in Orthopaedic Disorders
- Next-Generation Sequencing
  - Whole-Exome Sequencing
  - Rare Variant Exome Analysis
  - Family-Based Exome Analysis
  - Exome Analysis in Consanguineous Families
- Clinical Applications of Next-Generation Methods
- References
Neurofibromin in Skeletal Development
- Bone Development
- Introduction
- Bone Complications in NF1
  - Treatment of Long Bone Dysplasia in Mouse Models—The Attempts of Pharmacological Intervention
    - The TGF Beta Signaling and TβRI Kinase Inhibitor
    - Statins
    - Bisphosphonates and BMPs
  - Short Growth and Generalized Low Bone Mineral Density
  - FGF Signaling and c-Type Natriuretic Peptide
  - Long Bone Dysplasia
    - Growth Plate Disturbances
    - Disturbances in Bone Structural and Material Properties
    - Disturbances in Muscle Mass
    - Disturbances in Blood Vessel Properties
  - NF1 in Bone Regeneration
- Scoliosis
- Craniofacial Bone Lesions
- Muscle Phenotype
- Conclusions
- References
Molecular Genetics of Congenital Multiple Large Joint Dislocation
- Definition of Large Joint Dislocation
- Mendelian Disorders of Congenital Large Joint Dislocation
- Autosomal Dominant Disorders
  - Larsen syndrome (OMIM 150250)
  - The Ehlers Danlos Syndrome (EDS) Arthrochalasia Type
  - Spondyloepimetaphyseal Dysplasia with Joint Laxity-2
- Autosomal Recessive Disorders
  - Autosomal Recessive Multiple Joint Dislocations—CHST3 Type
  - Multiple Congenital Joint Dislocations with Short Stature—Reunion Island Type
  - Multiple Joint Dislocations—B3GAT3 Type
  - Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1
  - Desbuquois Dysplasia
  - Chondrodysplasia with Joint Dislocations, GPAPP Type
  - Developmental Dysplasia of the Hips
  - Overview of the Aetiopathogenesis of Large Joint Dislocation
- References
DMP-1 in Postnatal Bone Development
- Introduction
- Dmp1 Mutation/Deletion Leads to Autosomal Recessive Hypophosphatemia
  - Autosomal Recessive Hypophosphatemia
  - Osteocyte Maturational Defects in Dmp1 Null Mice
- Dmp1 Regulates Osteocyte Biology and Bone Development
  - DMP1 Directly Promotes Hydroxyapatite Formation In Vitro
  - DMP1 Signaling
    - DMP1 Signals via Cell Surface Integrin
    - DMP1 Works as a Transcriptional Factor
  - Pathophysiologic Regulation
    - Canonical Wnt/b-Catenin Pathway
    - Regulating the Axis of FGF23-Renal Phosphorus Reabsorption-Serum Phosphorus Level
- Summary
  - Acknowledgments
- References
The Genetic Architecture of Idiopathic Scoliosis
- Epidemiology and Inheritance—How Common and “Genetic” is AIS?
- Identifying AIS Genes in Humans—Mapping Susceptibility Loci
- Introduction
- AIS: A Disease of Bone, Muscle, or Nerve?
- Candidate Genes and AIS Etiology
- Quantitative Analyses: Do Genetic Factors Influence Disease Course?
- AIS Genetics: Ongoing and Future Research
- References
- Summary
Insights into the Genetics of Clubfoot
- Genes and Environment: Tobacco Metabolism and Clubfoot
- Introduction
- Treatment
- Epidemiology
- The Role of Environmental Factors in Clubfoot
- Genetic Epidemiology of Clubfoot
- Other Approaches to Gene Identification in Clubfoot
- Hindlimb Development
- PITX1
- Muscle Contraction Genes
- TBX4
- Homeobox A and D Genes
- Summary
- References
Classification and Etiologic Dissection of Vertebral Segmentation Anomalies
- Introduction
- Spondylocostal Dysostosis, Somitogenesis, and the Notch Signaling Pathway
- Varied Use of Clinical Terminology
  - Spondylocostal Dysostosis
  - Klippel-Feil Syndrome
- The Genetics and Clinical Description of SCD Sub-types
  - SCD5—Autosomal Dominant
  - STD—Spondylothoracic Dysostosis
  - SCD1
  - SCD2
  - SCD3
  - SCD4
- A New Classification and Radiological Reporting System for SDV
- References
Genetic and Environmental Interaction in Malformation of the Vertebral Column
- The Developmental Origins of Vertebral Defects
- Autosomal Recessively Inherited Severe Non-Syndromic Multiple Contiguous Vertebral Defects
  - SCDO1 (OMIM 277300)
  - SCDO2 (OMIM 608681)
  - SCDO3 (OMIM 609813)
  - SCDO4 (OMIM 613686)
- Autosomal Dominantly Inherited Severe Non-Syndromic Multiple Contiguous Vertebral Defects
  - SCDO5 (OMIM 122600)
- Autosomal Recessive KFS2 (OMIM 214300)
- Multiple Regional Vertebral Defects
- Autosomal Dominant KFS1 (OMIM 118100)
- Autosomal Dominant KFS3 (OMIM 613702)
- Single Vertebral Defects
- Environmental Influences on the Etiology of Vertebral Defects
- Concluding Remarks
- References
Somatic Mutations in Overgrowth Syndromes
- Introduction
- The Basics of Human Genetics
- Timing of De Novo Mutations
- De Novo Mutations in Orthopaedic Disorders
- Mosaic Mutations
- Somatic Mutations
- Summary
- References
Index