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
Language:English
Physical Description:1 electronic resource (172 p.)
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spelling 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
language English
format eBook
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.
author2_variant p g pg
n h m nhm
c l r cl clr
author2_role 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
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