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The protein encoded by CRTAP is similar to the chicken and mouse CRTAP genes. De plus, nous expédions CRTAP Anticorps (71) et CRTAP Protéines (11) et beaucoup plus de produits pour cette protéine.
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To the best of our knowledge, our study is the first to exclude potential correlations between heterozygous variants in CRTAP and milder skeletal impairments in a large number of patients
This study enhances our knowledge about the mutational pattern of the LEPRE1 (Montrer LEPRE1 Kits ELISA), CRTAP, and PPIB (Montrer PPIB Kits ELISA) genes. LEPRE1 (Montrer LEPRE1 Kits ELISA) should be the first gene analyzed in mutation detection studies in patients with recessive OI.
An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.
SNP rs7623768 and the haplotype G-C of rs4076086-rs7623768 in CRTAP were associated with femoral neck bone mineral density (p = 0.009 and p = 0.003, respectively).
Importantly, human mutations in the CRTAP gene have been associated with recessive forms of OI.
CRTAP deficiency results in higher bone mineral content of the bone matrix in osteogenesis imperfecta type VII.
Null mutations in LEPRE1 (Montrer LEPRE1 Kits ELISA) and CRTAP cause severe recessive osteogenesis imperfecta (Montrer COL1A2 Kits ELISA).
CRTAP and P3H1 (Montrer LEPRE1 Kits ELISA) are mutually stabilized in the collagen prolyl 3-hydroxylation complex in endoplasmic reticulum.
CRTAP mutations not described earlier were identified in 10 individuals who had a clinical diagnosis of lethal and severe osteogenesis imperfecta (Montrer COL1A2 Kits ELISA).
complexes with prolyl 3-hydroxylase 1 (P3H1) to decrease prolyl 3 hydroxylation; dysregulation (Montrer COL1A2 Kits ELISA) of prolyl 3 hydroxylation is a (Montrer TH Kits ELISA) mechanism for connective tissue disease
This substitution abolished P3h1 (Montrer LEPRE1 Kits ELISA) activity but retained ability to form a complex with Crtap and thus the collagen chaperone function.
In Crtap-deficient mice, the mineral content of the bone matrix is abnormally high; there are increased mineral densities at all measured sites for murine femora compared to control animals.
CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta (Montrer COL1A2 Kits ELISA), including the type II and VII (Montrer TH Kits ELISA) forms
The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass.
, cartilage associated protein
, leprecan-like 3