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  1. Genetics of Bone Biology and Skeletal Disease - Google книги
  2. Genetics of Bone Biology and Skeletal Disease
  3. Nosology and classification of genetic skeletal disorders: 2015 revision

The modification of microRNA by degraded target mRNA maintains cellular homeostasis and regulates cell fate transitions during differentiation. These processes are important to ensure proper organogenesis and growth of skeleton. Defining the targets of this miRNAs gene will give a deeper understanding of the pathophysiology and complex genetics of GSD. The above functional and enrichment analysis results, including classical genetic and epigenetic modifications, is consistent with previous findings that skeletal system development, appendage development, limb development, appendage morphogenesis and limb morphogenesis are related to genetic skeletal disorders.

Secondly, the general annotation of mutations, such as the effects on protein coding frameshift, non-frameshift, non-synonymous, splicing, stopgain, stoploss, etc. Additionally, more detailed clinical information was provided about each entry, including PubMed ID, ethnicity, gender male or female , age-of-onset death, newborn, days, weeks, months, years and hereditary mode. Therefore, in order to facilitate the search for mutation information and statistics on the bias of the mutation position, we used scalable vector graphics SVG to visualize the mutation distribution in each GSD-gene for related syndromes, each simulated fonts including gene position information, gene name number of exons, transcript ID , and encoded information, with different colors to represent different mutation effects or types, which presented a gene level overview of the summarized mutations.

Besides, SVG was used to construct a graphical gene-disease network to provide the potential relations of GSD and skeletal-related genes for understanding the complex heterogeneity of GSD. Information about the gene—disease network includes the number of GSD genes, mutation information and different disease phenotypes. For example, the COL2A1 related to nine common genetic skeletal disorders, including achondrogenesis type 2 ACG2; Langer-Saldino , platyspondylic dysplasia, Torrance type, hypochondrogenesis, spondyloepiphyseal dysplasia congenital SEDC , spondyloepimetaphyseal dysplasia SEMD strudwick type, kniest dysplasia, spondyloperipheral dysplasia, mild SED with premature onset arthrosis, SED with metatarsal shortening formerly Czech dysplasia , stickler syndrome type 1, are depicted by a simple ball red ball represents gene and blue ball represents disease and a straight line to construct the gene—disease network.

Users click on the corresponding graphics and can quickly link to detailed information on mutations and phenotypes. To facilitate users browsing the data, two different approaches are provided: i browse by disorders ii browse by chromosome Figure 2. The genes and mutations related to this group or disease conditions can be easily retrieved by selecting from the list.

Search box at home page for searching by five symbols. Annotation module including functional and enrichment analysis, mutation annotation, mutation spectrum and gene—disease network. All data can be freely downloaded from the website Download page. The web client has been successfully tested with Internet Explorer 10, Chrome Firstly, disorders should be classified on phenotypic similarities. Secondly, they should be reclassified based on the pathway or gene related to the functional abnormality 4.

In this study, functional analysis of the known GSD genes in publications mostly involved in specific GO items, such as skeletal system development, appendage development, limb development, appendage morphogenesis and limb morphogenesis or pathways, such as classical FGFs, TGF-beta, Hedgehog, WNT, Notch signaling pathways.

Meanwhile, many of the new identified genes interact with known GSD genes 32—35 or key GSD genes could induce the disease state. This database would be important and useful for revealing novel GSD-related genes and pathways. Therefore, researchers could focus on the other unknown genes, which were involved in the same skeletal development and homeostasis functions module combined with biochemical, molecular information or the group of disorders with similar phenotypic features. The increasing availability of massive parallel sequencing and other new sequencing technologies will likely result in a rapid and cost-effective identification of many GSD-causing genes and mutations, or novel phenotypes associated with mutations in genes already linked to other phenotypes.

Supplementary data are available at Database Online. National Center for Biotechnology Information , U. Journal List Database Oxford v. Database Oxford. Published online Aug Author information Article notes Copyright and License information Disclaimer. Citation details: Chen,C.

SkeletonGenetics: a comprehensive database for genes and mutations related to genetic skeletal disorders.

Genetics of Bone Biology and Skeletal Disease - Google книги

Database Vol. Published by Oxford University Press. This article has been cited by other articles in PMC.

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Abstract Genetic skeletal disorders GSD involving the skeletal system arises through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their clinical heterogeneity and genetic variety. Introduction The skeleton provides the structural framework in humans for muscle attachments, assists movement, protects organs, and maintains the homeostasis of the vascular systems 1.

Table 1 Data content and statistics of genetic data in SkeletonGenetics. Open in a separate window. Information statistics Specific skeletal phenotype can be caused by mutations in different genes or the same gene can lead to substantially different clinical phenotypes. Figure 1. Figure 2. Supplementary data Supplementary data are available at Database Online. Supplementary Data: Click here to view. Conflict of interest. None declared. References 1. Baldridge D. Krakow D. Mortier G. Warman M. Rousseau F. Geister K.

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Genetics of Bone Biology and Skeletal Disease

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Nosology and classification of genetic skeletal disorders: 2015 revision

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