04463nam 2201117z- 450 991063999540332120231214132828.03-0365-5976-0(CKB)5470000001633399(oapen)https://directory.doabooks.org/handle/20.500.12854/95893(EXLCZ)99547000000163339920202301d2022 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierGenetic Conditions Affecting the SkeletonCongenital, Idiopathic Scoliosis and ArthrogryposisBaselMDPI - Multidisciplinary Digital Publishing Institute20221 electronic resource (172 p.)3-0365-5975-2 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.Genetic Conditions Affecting the Skeleton Research & information: generalbicsscBiology, life sciencesbicsscGenetics (non-medical)bicsscspinal curvaturesscoliosisidiopathicDNA methylationpyrosequencingestrogen receptor 1ESR1scoliosis progressionadolescent idiopathic scoliosisidiopathic scoliosisexome sequencingspinepolygenicvariantsmusculoskeletal diseasecytoskeletonextracellular matrixcontracturearthrogryposiscongenitalPOC5ciliageneticsspine deformitygenetic predispositioncomplex traitmodel animalgenome wide association studygenetic linkage studyAmyoplasiaDECIPHER (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)akinesiaMYODIGF2FGFR1 (Fibroblast growth factor receptor 1)genetic variationscongenital scoliosismonozygotic twinepigenome-wide association studybonediscordantcurve severitydifferentially methylated regioncongenital vertebral malformationcopy number variantCNVCHRNGdistal arthrogryposis type 8Escobarmultiple pterygium syndromeMYH3protein tyrosine kinase 7 (PTK7)whole exome sequencingResearch & information: generalBiology, life sciencesGenetics (non-medical)Giampietro Philipedt1278530Hadley-Miller NancyedtRaggio Cathy LedtGiampietro PhilipothHadley-Miller NancyothRaggio Cathy LothBOOK9910639995403321Genetic Conditions Affecting the Skeleton3013406UNINA