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Genetic Conditions Affecting the Skeleton

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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Guardat en:
Format: Online
Idioma:anglès
Publicat: MDPI - Multidisciplinary Digital Publishing Institute 2023
Matèries:
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
n/a
thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences
thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical)
Accés en línia:ONIX_20230202_9783036559759_6
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