Genetic Conditions Affecting the Skeleton : Congenital, Idiopathic Scoliosis and Arthrogryposis
In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechani...
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Year of Publication: | 2022 |
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Physical Description: | 1 electronic resource (172 p.) |
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Giampietro, Philip edt Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis Genetic Conditions Affecting the Skeleton Basel MDPI - Multidisciplinary Digital Publishing Institute 2022 1 electronic resource (172 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier In this Special Issue of Genes entitled “Genetic Conditions Affecting the Skeleton: Congenital, Idiopathic Scoliosis and Arthrogryposis”, evidence is presented that suggests that congenital, idiopathic scoliosis, and arthrogryposis share similar overlapping, but also distinct, etiopathogenic mechanisms, including connective tissue and neuromuscular mechanisms. Congenital scoliosis (CS) is defined by the presence of an abnormal spinal curvature, due to an underlying vertebral bony malformation (VM). Idiopathic scoliosis (IS) is defined by the presence of an abnormal structural spinal curvature of ≥10 degrees in the sagittal plane, in the absence of an underlying VM. Arthrogryposis is defined by the presence of congenital contractures in two or more joints of the appendicular skeleton. All three conditions have complex genetic causes. This Special Issue highlights the complex nature of these conditions and current concepts in our approach to better understand their genetics. English Research & information: general bicssc Biology, life sciences bicssc Genetics (non-medical) bicssc spinal curvatures scoliosis idiopathic DNA methylation pyrosequencing estrogen receptor 1 ESR1 scoliosis progression adolescent idiopathic scoliosis idiopathic scoliosis exome sequencing spine polygenic variants musculoskeletal disease cytoskeleton extracellular matrix contracture arthrogryposis congenital POC5 cilia genetics spine deformity genetic predisposition complex trait model animal genome wide association study genetic linkage study Amyoplasia DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) CNV (copy number variant) DA (distal arthrogryposis) IPA (ingenuity pathway analysis) HPO (human phenotype ontology) akinesia MYOD IGF2 FGFR1 (Fibroblast growth factor receptor 1) genetic variations congenital scoliosis monozygotic twin epigenome-wide association study bone discordant curve severity differentially methylated region congenital vertebral malformation copy number variant CNV CHRNG distal arthrogryposis type 8 Escobar multiple pterygium syndrome MYH3 protein tyrosine kinase 7 (PTK7) whole exome sequencing 3-0365-5975-2 Hadley-Miller, Nancy edt Raggio, Cathy L. edt Giampietro, Philip oth Hadley-Miller, Nancy oth Raggio, Cathy L. oth |
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English |
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author2 |
Hadley-Miller, Nancy Raggio, Cathy L. Giampietro, Philip Hadley-Miller, Nancy Raggio, Cathy L. |
author_facet |
Hadley-Miller, Nancy Raggio, Cathy L. Giampietro, Philip Hadley-Miller, Nancy Raggio, Cathy L. |
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HerausgeberIn HerausgeberIn Sonstige Sonstige Sonstige |
title |
Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis |
spellingShingle |
Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis |
title_sub |
Congenital, Idiopathic Scoliosis and Arthrogryposis |
title_full |
Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis |
title_fullStr |
Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis |
title_full_unstemmed |
Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis |
title_auth |
Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis |
title_alt |
Genetic Conditions Affecting the Skeleton |
title_new |
Genetic Conditions Affecting the Skeleton |
title_sort |
genetic conditions affecting the skeleton congenital, idiopathic scoliosis and arthrogryposis |
publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
publishDate |
2022 |
physical |
1 electronic resource (172 p.) |
isbn |
3-0365-5976-0 3-0365-5975-2 |
illustrated |
Not Illustrated |
work_keys_str_mv |
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(CKB)5470000001633399 (oapen)https://directory.doabooks.org/handle/20.500.12854/95893 (EXLCZ)995470000001633399 |
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Genetic Conditions Affecting the Skeleton Congenital, Idiopathic Scoliosis and Arthrogryposis |
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