Congenital and idiopathic scoliosis: clinical and genetic aspects

PF Giampietro, RD Blank, CL Raggio… - Clinical Medicine & …, 2003 - Marshfield Clinic
OBJECTIVE Genetic and environmental factors influencing spinal development in lower
vertebrates are likely to play a role in the abnormalities associated with human congenital …

Abnormal vertebral segmentation and the notch signaling pathway in man

PD Turnpenny, B Alman, AS Cornier… - … dynamics: an official …, 2007 - Wiley Online Library
Abnormal vertebral segmentation (AVS) in man is a relatively common congenital
malformation but cannot be subjected to the scientific analysis that is applied in animal …

[HTML][HTML] Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes

SH Settle Jr, RB Rountree, A Sinha, A Thacker… - Developmental …, 2003 - Elsevier
Growth/differentiation factors 5, 6, and 7 (GDF5/6/7) represent a distinct subgroup within the
bone morphogenetic protein (BMP) family of secreted signaling molecules. Previous studies …

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes

S Sharma, X Gao, D Londono, SE Devroy… - Human molecular …, 2011 - academic.oup.com
Adolescent idiopathic scoliosis (AIS) is an unexplained and common spinal deformity seen
in otherwise healthy children. Its pathophysiology is poorly understood despite intensive …

Melatonin signaling dysfunction in adolescent idiopathic scoliosis

A Moreau, S Forget, B Azeddine, D Angeloni… - Spine, 2004 - journals.lww.com
Study Design. In vitro assays were performed with bone-forming cells isolated from 41
patients with adolescent idiopathic scoliosis and 17 control patients exhibiting another type …

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

L Salehi, M Mangino, S De Serio, D De Cicco, F Capon… - Human genetics, 2002 - Springer
Idiopathic scoliosis (IS) is a spine deformity of unknown etiology. Family studies have
suggested that IS may be inherited as a mendelian autosomal dominant trait. We have …

Somitogenesis

M Maroto, RA Bone, JK Dale - Development, 2012 - journals.biologists.com
A segmented body plan is fundamental to all vertebrate species and this bestows both
rigidity and flexibility on the body. Segmentation is initiated through the process of …

Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population

Z Chen, NLS Tang, X Cao, D Qiao, L Yi… - European Journal of …, 2009 - nature.com
Adolescent idiopathic scoliosis (AIS) is widely recognized as a complex disorder with a
strong genetic predisposition. In previous studies, a number of extracellular matrixes (ECMs) …

The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein

G Blanco, GR Coulton, A Biggin… - Human molecular …, 2001 - academic.oup.com
The ky mouse mutant exhibits a primary degenerative myopathy preceding chronic thoraco-
lumbar kyphoscoliosis. The histopathology of the ky mutant suggests that Ky protein activity …

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13. 1-q13. 3

PD Turnpenny, MP Bulman, TM Frayling… - The American Journal of …, 1999 - cell.com
In spondylocostal dysostosis (SD), vertebral-segmentation defects are associated with rib
anomalies. This results in short-trunk short stature, nonprogressive kyphoscoliosis, and …