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Gene Review

CRTAP  -  cartilage associated protein

Homo sapiens

Synonyms: CASP, Cartilage-associated protein, LEPREL3, OI7, P3H5
 
 
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High impact information on CRTAP

  • In humans, CRTAP mutations are associated with the clinical spectrum of recessive osteogenesis imperfecta, including the type II and VII forms [1].
  • cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein [2].
  • METHOD: A sample of 12 research papers on support for breast-feeding was appraised by six qualitative reviewers using three appraisal methods: unprompted judgement, based on expert opinion; a UK Cabinet Office quality framework; and CASP, a Critical Appraisal Skills Programme tool [3].
  • Three of 10 children with lethal or severe osteogenesis imperfecta, who did not have a primary collagen defect yet had excess post-translational modification of collagen, were found to have a recessive condition resulting in CRTAP deficiency, suggesting that prolyl 3-hydroxylation of type I collagen is important for bone formation [4].
 

Analytical, diagnostic and therapeutic context of CRTAP

References

  1. CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta. Morello, R., Bertin, T.K., Chen, Y., Hicks, J., Tonachini, L., Monticone, M., Castagnola, P., Rauch, F., Glorieux, F.H., Vranka, J., B??chinger, H.P., Pace, J.M., Schwarze, U., Byers, P.H., Weis, M., Fernandes, R.J., Eyre, D.R., Yao, Z., Boyce, B.F., Lee, B. Cell (2006) [Pubmed]
  2. cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein. Morello, R., Tonachini, L., Monticone, M., Viggiano, L., Rocchi, M., Cancedda, R., Castagnola, P. Matrix Biol. (1999) [Pubmed]
  3. Appraising qualitative research for inclusion in systematic reviews: a quantitative and qualitative comparison of three methods. Dixon-Woods, M., Sutton, A., Shaw, R., Miller, T., Smith, J., Young, B., Bonas, S., Booth, A., Jones, D. Journal of health services research & policy (2007) [Pubmed]
  4. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. Barnes, A.M., Chang, W., Morello, R., Cabral, W.A., Weis, M., Eyre, D.R., Leikin, S., Makareeva, E., Kuznetsova, N., Uveges, T.E., Ashok, A., Flor, A.W., Mulvihill, J.J., Wilson, P.L., Sundaram, U.T., Lee, B., Marini, J.C. N. Engl. J. Med. (2006) [Pubmed]
  5. Measurements of DNA damage on silver stained comets using free Internet software. Garcia, O., Romero, I., González, J.E., Mandina, T. Mutat. Res. (2007) [Pubmed]
 
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