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

MCDR1  -  macular dystrophy, retinal, 1 (North...

Homo sapiens

Synonyms: CAPED, NCMD
 
 
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Disease relevance of MCDR1

 

Psychiatry related information on MCDR1

  • To illustrate the power of MCDR, I present a hypothetical process and outcome study involving three client cohorts (those who undergo respectively cognitive-behavioral therapy, intersubjective psychoanalytic therapy, and existential-humanistic therapy) [3].
 

High impact information on MCDR1

  • Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci [1].
  • Genotyping excluded linkage to the MCDR1 locus and suggested a potential novel disease locus on chromosome 14q (Z=2.92 at theta=0 for marker D14S261) [4].
  • CONCLUSION: This family has the typical phenotype NCMD, and the causative gene was linked to the disease locus (MCDR1) on chromosome 6q [5].
  • AIMS: To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy (NCMD) in this British family, and to verify that the disease locus corresponds with that of MCDR1 on chromosome 6q [5].

References

  1. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Griesinger, I.B., Sieving, P.A., Ayyagari, R. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  2. Cerebral abscess with astrocytoma. Bansal, S., Vasishta, R.K., Pathak, A., Jindal, V.N., Khosla, V.K., Banerjee, A.K. Neurology India. (2001) [Pubmed]
  3. Multiple-case depth research: bringing experience-near closer. Schneider, K.J. Journal of clinical psychology. (1999) [Pubmed]
  4. Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. Francis, P.J., Johnson, S., Edmunds, B., Kelsell, R.E., Sheridan, E., Garrett, C., Holder, G.E., Hunt, D.M., Moore, A.T. The British journal of ophthalmology. (2003) [Pubmed]
  5. Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q. Reichel, M.B., Kelsell, R.E., Fan, J., Gregory, C.Y., Evans, K., Moore, A.T., Hunt, D.M., Fitzke, F.W., Bird, A.C. The British journal of ophthalmology. (1998) [Pubmed]
 
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