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scoliosis/proline

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ArtiklidKliinilistes uuringutesPatendid
6 tulemused
OBJECTIVE The aim of this study was to detect and assess the estrogen receptor (ESR) coactivator PELP1 expression within human paraspinal skeletal muscles in patients suffering from idiopathic scoliosis. METHODS During surgical correction of scoliosis the muscle biopsies harvested in 29 females.
Increased proline levels were found in plasma of a girl with slight psychomotor retardation, epilepsy, obesity, scoliosis, hypocalcaemia, variable lymphocytopenia and facial dysmorphy suggestive of CATCH 22 syndrome. Fluorescence in situ hybridization indicated the presence of a submicroscopic 22q11
METHODS Comparison of disc tissue from rat tails in 6 groups with different mechanical conditions imposed. OBJECTIVE To identify disc annulus changes associated with the supposed altered biomechanical environment in a spine with scoliosis deformity using an immature rat model that produces disc

Characterisation of collagen from normal and scoliotic human spinal ligament.

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Logi sisse
Acid-soluble and pepsin-soluble collagens have been isolated from spinal ligaments of normal and scoliotic individuals. Polyacrylamide gel electrophoresis of native and cyanogen bromide-treated collagens, and amino acid analysis, showed that the ligament collagen is almost all of the Type I variety

Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.

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Logi sisse
Mutations of proteins involved in posttranslational modification of collagen type I can cause osteogenesis imperfecta (OI) inherited in a recessive pattern. The cartilage-associated protein (CRTAP) is part of a heterotrimeric complex (together with prolyl-3-hydroxylase-1 [P3H1] and cyclophilin B)

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

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Logi sisse
Lateral meningocele syndrome (LMS, OMIM%130720), also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele-related neurologic dysfunction. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are
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