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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review


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Disease relevance of Scoliosis

  • Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology [1].
  • The identification of the ky gene will allow detailed analysis of the impact of primary myopathy on idiopathic scoliosis in mice and man [2].
  • Other features that are more variable in expressivity include dilated cardiomyopathy, hypertriglyceridemia, hypercholesterolemia, scoliosis, developmental delay and pulmonary and urological dysfunctions [3].
  • Associated symptoms, such as muscle wasting, sensory disturbances, foot deformity, scoliosis and electrocardiographic abnormalities were encountered less frequently in EOCA than in FA patients [4].
  • Unlike COPD, pulmonary function following ARF in kyphosis or scoliosis deteriorates at a slower than expected rate and, in fact, may improve with treatment over many years [5].

Psychiatry related information on Scoliosis

  • We report on an individual with severe mental retardation, seizures, microcephaly, unusual face, scoliosis, and cleft feet and cleft right hand [6].
  • We recently had an opportunity to study the status of bone remodeling by quantitative bone histomorphometry in three girls ages 9.75, 13.5, and 14 years, with typical Rett syndrome who required scoliosis surgery.Anterior iliac crest bone biopsies were performed 1-2 days after double labeling of the bone surfaces with tetracycline [7].

High impact information on Scoliosis

  • The aims were to examine the effects of scoliosis (angle), and age on lung volumes, elastic properties of the respiratory system, and the ventilatory response to CO2 [8].
  • In the A-T families, idiopathic scoliosis and vertebral anomalies were in excess, while genitourinary and distal limb malformations were found in the FA families [9].
  • Sim2 mutants also develop congenital scoliosis, reflected by the unequal sizes of the left and right vertebrae and ribs [10].
  • RESULTS: Mild scoliosis was noticed in the proband at the age of 6 years, and at the age of 7 years large Schmorl's nodes were found in the vertebrae L1-2 [11].
  • There was no significant association between BMD and scoliosis, nor between BMD and fracture history [12].

Chemical compound and disease context of Scoliosis

  • These results confirm our previous observations in rats, and also support our hypothesis that melatonin as well as the bipedal ambulation appear to play a critical pathogenic role in scoliosis in experimental mammals [13].
  • The authors hypothesized that administration of tranexamic acid would reduce bleeding and transfusion requirements during scoliosis surgery [14].
  • The typical scoliosis condition associated with severe vitamin C deficiency in fish occurred in the nonsupplemented groups in the study with practical diets [15].
  • Proceedings: Selective denervation in the treatment of paralytic scoliosis based on electromyographic studies of erector spinae and quadratus lumborum [16].
  • The severity of the scoliosis was closely related to a decrease in extracellular striatal dopamine measured with microdialysis and to the development of postsynaptic dopamine receptor supersensitivity, functionally evaluated with rotational behaviour elicited with apomorphine [17].

Biological context of Scoliosis


Anatomical context of Scoliosis


Gene context of Scoliosis


Analytical, diagnostic and therapeutic context of Scoliosis


  1. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Senderek, J., Bergmann, C., Stendel, C., Kirfel, J., Verpoorten, N., De Jonghe, P., Timmerman, V., Chrast, R., Verheijen, M.H., Lemke, G., Battaloglu, E., Parman, Y., Erdem, S., Tan, E., Topaloglu, H., Hahn, A., Müller-Felber, W., Rizzuto, N., Fabrizi, G.M., Stuhrmann, M., Rudnik-Schöneborn, S., Züchner, S., Michael Schröder, J., Buchheim, E., Straub, V., Klepper, J., Huehne, K., Rautenstrauss, B., Büttner, R., Nelis, E., Zerres, K. Am. J. Hum. Genet. (2003) [Pubmed]
  2. The kyphoscoliosis (ky) mouse is deficient in hypertrophic responses and is caused by a mutation in a novel muscle-specific protein. Blanco, G., Coulton, G.R., Biggin, A., Grainge, C., Moss, J., Barrett, M., Berquin, A., Maréchal, G., Skynner, M., van Mier, P., Nikitopoulou, A., Kraus, M., Ponting, C.P., Mason, R.M., Brown, S.D. Hum. Mol. Genet. (2001) [Pubmed]
  3. Alms1-disrupted mice recapitulate human Alström syndrome. Collin, G.B., Cyr, E., Bronson, R., Marshall, J.D., Gifford, E.J., Hicks, W., Murray, S.A., Zheng, Q.Y., Smith, R.S., Nishina, P.M., Naggert, J.K. Hum. Mol. Genet. (2005) [Pubmed]
  4. Early onset cerebellar ataxia with retained tendon reflexes. Clinical, electrophysiological and MRI observations in comparison with Friedreich's ataxia. Klockgether, T., Petersen, D., Grodd, W., Dichgans, J. Brain (1991) [Pubmed]
  5. Acute respiratory failure in scoliosis or kyphosis: prolonged survival and treatment. Libby, D.M., Briscoe, W.A., Boyce, B., Smith, J.P. Am. J. Med. (1982) [Pubmed]
  6. Ectrodactyly and proximal/intermediate interstitial deletion 7q. McElveen, C., Carvajal, M.V., Moscatello, D., Towner, J., Lacassie, Y. Am. J. Med. Genet. (1995) [Pubmed]
  7. Bone histomorphometry in three females with Rett syndrome. Budden, S.S., Gunness, M.E. Brain Dev. (2001) [Pubmed]
  8. Idiopathic scoliosis. Mechanical properties of the respiratory system and the ventilatory response to carbon dioxide. Kafer, E.R. J. Clin. Invest. (1975) [Pubmed]
  9. Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families. Welshimer, K., Swift, M. Am. J. Hum. Genet. (1982) [Pubmed]
  10. Sim2 mutants have developmental defects not overlapping with those of Sim1 mutants. Goshu, E., Jin, H., Fasnacht, R., Sepenski, M., Michaud, J.L., Fan, C.M. Mol. Cell. Biol. (2002) [Pubmed]
  11. Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1). Löppönen, T., Körkkö, J., Lundan, T., Seppänen, U., Ignatius, J., Kääriäinen, H. Arthritis Rheum. (2004) [Pubmed]
  12. Bone mineral status of women with Marfan syndrome. Kohlmeier, L., Gasner, C., Marcus, R. Am. J. Med. (1993) [Pubmed]
  13. Bipedal ambulation induces experimental scoliosis in C57BL/6J mice with reduced plasma and pineal melatonin levels. Oyama, J., Murai, I., Kanazawa, K., Machida, M. J. Pineal Res. (2006) [Pubmed]
  14. Tranexamic acid reduces intraoperative blood loss in pediatric patients undergoing scoliosis surgery. Sethna, N.F., Zurakowski, D., Brustowicz, R.M., Bacsik, J., Sullivan, L.J., Shapiro, F. Anesthesiology (2005) [Pubmed]
  15. Studies on the vitamin C requirements of channel catfish (Ictalurus punctatus). Andrews, J.W., Murai, T. J. Nutr. (1975) [Pubmed]
  16. Proceedings: Selective denervation in the treatment of paralytic scoliosis based on electromyographic studies of erector spinae and quadratus lumborum. Jenkins, D.H. The British journal of surgery. (1975) [Pubmed]
  17. Scoliosis in rats with experimentally-induced hemiparkinsonism: dependence upon striatal dopamine denervation. Herrera-Marschitz, M., Utsumi, H., Ungerstedt, U. J. Neurol. Neurosurg. Psychiatr. (1990) [Pubmed]
  18. Resting energy expenditure and nutritional state of patients with increased oxygen cost of breathing due to emphysema, scoliosis and thoracoplasty. Sridhar, M.K., Carter, R., Lean, M.E., Banham, S.W. Thorax (1994) [Pubmed]
  19. Effects of halothane, enflurane, and isoflurane on somatosensory evoked potentials during nitrous oxide anesthesia. Pathak, K.S., Ammadio, M., Kalamchi, A., Scoles, P.V., Shaffer, J.W., Mackay, W. Anesthesiology (1987) [Pubmed]
  20. The effect of intravenous lidocaine on somatosensory evoked potentials during scoliosis surgery. Klasen, J. Anesth. Analg. (1997) [Pubmed]
  21. Changes in serum calcium fractions and citrate concentrations during massive blood transfusions and cardiopulmonary bypass. Abbott, T.R. British journal of anaesthesia. (1983) [Pubmed]
  22. Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family. O'Riordan, S., Lynch, T., Hutchinson, M. J. Neurol. (2004) [Pubmed]
  23. Diet as an external factor in the expression of scoliosis in a line of susceptible chickens. Greve, C., Trachtenberg, E., Opsahl, W., Abbott, U., Rucker, R. J. Nutr. (1987) [Pubmed]
  24. Effect of sevoflurane/nitrous oxide versus propofol anaesthesia on somatosensory evoked potential monitoring of the spinal cord during surgery to correct scoliosis. Ku, A.S., Hu, Y., Irwin, M.G., Chow, B., Gunawardene, S., Tan, E.E., Luk, K.D. British journal of anaesthesia. (2002) [Pubmed]
  25. A new form of metaphyseal chondrodysplasia in two sibs: surgical treatment of tracheobronchial malacia and scoliosis. Kaitila, I.I., Halttunen, P., Snellman, O., Takkunen, O. Am. J. Med. Genet. (1982) [Pubmed]
  26. Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11. Stevens, C.A., Qumsiyeh, M.B. Am. J. Med. Genet. (1995) [Pubmed]
  27. Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. Mikesová, E., Hühne, K., Rautenstrauss, B., Mazanec, R., Baránková, L., Vyhnálek, M., Horácek, O., Seeman, P. Neuromuscul. Disord. (2005) [Pubmed]
  28. Molecular analysis of congenital scoliosis: a candidate gene approach. Maisenbacher, M.K., Han, J.S., O'brien, M.L., Tracy, M.R., Erol, B., Schaffer, A.A., Dormans, J.P., Zackai, E.H., Kusumi, K. Hum. Genet. (2005) [Pubmed]
  29. An analysis of PAX1 in the development of vertebral malformations. Giampietro, P.F., Raggio, C.L., Reynolds, C.E., Shukla, S.K., McPherson, E., Ghebranious, N., Jacobsen, F.S., Kumar, V., Faciszewski, T., Pauli, R.M., Rasmussen, K., Burmester, J.K., Zaleski, C., Merchant, S., David, D., Weber, J.L., Glurich, I., Blank, R.D. Clin. Genet. (2005) [Pubmed]
  30. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Röschinger, W., Muntau, A.C., Rudolph, G., Roscher, A.A., Kammerer, S. Mol. Genet. Metab. (2000) [Pubmed]
  31. Myoglobin and enzyme adaptations in erector spinae muscles in thoracal scoliosis. Jansson, E., Sylvén, C., Bylund, P. Clinical physiology (Oxford, England) (1990) [Pubmed]
  32. A trial of desmopressin to reduce blood loss in patients undergoing spinal fusion for idiopathic scoliosis. Guay, J., Reinberg, C., Poitras, B., David, M., Mathews, S., Lortie, L., Rivard, G.E. Anesth. Analg. (1992) [Pubmed]
  33. A randomized trial of tranexamic acid to reduce blood transfusion for scoliosis surgery. Neilipovitz, D.T., Murto, K., Hall, L., Barrowman, N.J., Splinter, W.M. Anesth. Analg. (2001) [Pubmed]
  34. Continuous spinal anesthesia with combined hyperbaric and isobaric bupivacaine in a patient with scoliosis. Moran, D.H., Johnson, M.D. Anesth. Analg. (1990) [Pubmed]
  35. Comparative study of propofol and midazolam effects on somatosensory evoked potentials during surgical treatment of scoliosis. Laureau, E., Marciniak, B., Hébrard, A., Herbaux, B., Guieu, J.D. Neurosurgery (1999) [Pubmed]
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