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...

Full description

Saved in:
Bibliographic Details
HerausgeberIn:
Sonstige:
Year of Publication:2022
Language:English
Physical Description:1 electronic resource (172 p.)
Tags: Add Tag
No Tags, Be the first to tag this record!
LEADER 04262nam-a2201057z--4500
001 993576086404498
005 20231214132828.0
006 m o d
007 cr|mn|---annan
008 202301s2022 xx |||||o ||| 0|eng d
020 |a 3-0365-5976-0 
035 |a (CKB)5470000001633399 
035 |a (oapen)https://directory.doabooks.org/handle/20.500.12854/95893 
035 |a (EXLCZ)995470000001633399 
041 0 |a eng 
100 1 |a Giampietro, Philip  |4 edt 
245 1 0 |a Genetic Conditions Affecting the Skeleton  |b Congenital, Idiopathic Scoliosis and Arthrogryposis 
246 |a Genetic Conditions Affecting the Skeleton  
260 |a Basel  |b MDPI - Multidisciplinary Digital Publishing Institute  |c 2022 
300 |a 1 electronic resource (172 p.) 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |2 rdacarrier 
520 |a 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. 
546 |a English 
650 7 |a Research & information: general  |2 bicssc 
650 7 |a Biology, life sciences  |2 bicssc 
650 7 |a Genetics (non-medical)  |2 bicssc 
653 |a spinal curvatures 
653 |a scoliosis 
653 |a idiopathic 
653 |a DNA methylation 
653 |a pyrosequencing 
653 |a estrogen receptor 1 
653 |a ESR1 
653 |a scoliosis progression 
653 |a adolescent idiopathic scoliosis 
653 |a idiopathic scoliosis 
653 |a exome sequencing 
653 |a spine 
653 |a polygenic 
653 |a variants 
653 |a musculoskeletal disease 
653 |a cytoskeleton 
653 |a extracellular matrix 
653 |a contracture 
653 |a arthrogryposis 
653 |a congenital 
653 |a POC5 
653 |a cilia 
653 |a genetics 
653 |a spine deformity 
653 |a genetic predisposition 
653 |a complex trait 
653 |a model animal 
653 |a genome wide association study 
653 |a genetic linkage study 
653 |a Amyoplasia 
653 |a DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) 
653 |a CNV (copy number variant) 
653 |a DA (distal arthrogryposis) 
653 |a IPA (ingenuity pathway analysis) 
653 |a HPO (human phenotype ontology) 
653 |a akinesia 
653 |a MYOD 
653 |a IGF2 
653 |a FGFR1 (Fibroblast growth factor receptor 1) 
653 |a genetic variations 
653 |a congenital scoliosis 
653 |a monozygotic twin 
653 |a epigenome-wide association study 
653 |a bone 
653 |a discordant 
653 |a curve severity 
653 |a differentially methylated region 
653 |a congenital vertebral malformation 
653 |a copy number variant 
653 |a CNV 
653 |a CHRNG 
653 |a distal arthrogryposis type 8 
653 |a Escobar 
653 |a multiple pterygium syndrome 
653 |a MYH3 
653 |a protein tyrosine kinase 7 (PTK7) 
653 |a whole exome sequencing 
776 |z 3-0365-5975-2 
700 1 |a Hadley-Miller, Nancy  |4 edt 
700 1 |a Raggio, Cathy L.  |4 edt 
700 1 |a Giampietro, Philip  |4 oth 
700 1 |a Hadley-Miller, Nancy  |4 oth 
700 1 |a Raggio, Cathy L.  |4 oth 
906 |a BOOK 
ADM |b 2023-12-15 05:32:30 Europe/Vienna  |f system  |c marc21  |a 2023-01-18 06:03:23 Europe/Vienna  |g false 
AVE |i DOAB Directory of Open Access Books  |P DOAB Directory of Open Access Books  |x https://eu02.alma.exlibrisgroup.com/view/uresolver/43ACC_OEAW/openurl?u.ignore_date_coverage=true&portfolio_pid=5343017190004498&Force_direct=true  |Z 5343017190004498  |b Available  |8 5343017190004498 
AVE |i DOAB Directory of Open Access Books  |P DOAB Directory of Open Access Books  |x https://eu02.alma.exlibrisgroup.com/view/uresolver/43ACC_OEAW/openurl?u.ignore_date_coverage=true&portfolio_pid=5342445070004498&Force_direct=true  |Z 5342445070004498  |b Available  |8 5342445070004498