The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
Gene Review

ASMD  -  anterior segment mesenchymal dysgenesis

Homo sapiens

This record was replaced with 5309.
 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of ASMD

 

High impact information on ASMD

 

Biological context of ASMD

  • Although the same genotype was described in a family with ASMD and cataracts, the common phenotype of this mutation is probably posterior polar cataract; a modifier gene is presumed to cause anterior segment abnormalities in the previously described patients [8].
 

Other interactions of ASMD

  • CONCLUSION: Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD [9].

References

  1. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Semina, E.V., Ferrell, R.E., Mintz-Hittner, H.A., Bitoun, P., Alward, W.L., Reiter, R.S., Funkhauser, C., Daack-Hirsch, S., Murray, J.C. Nat. Genet. (1998) [Pubmed]
  2. Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Heathcote, J.G., Sholdice, J., Walton, J.C., Willis, N.R., Sergovich, F.R. Can. J. Ophthalmol. (1991) [Pubmed]
  3. Unilateral congenital corneal keloid with anterior segment mesenchymal dysgenesis and subluxated lens: case report and review of literature. Vanathi, M., Sen, S., Panda, A., Dada, T., Behera, G., Khokhar, S. Cornea (2007) [Pubmed]
  4. Bilateral congenital corneal keloids and anterior segment mesenchymal dysgenesis in a case of Rubinstein-Taybi syndrome. Rao, S.K., Fan, D.S., Pang, C.P., Li, W.W., Ng, J.S., Good, W.V., Lam, D.S. Cornea (2002) [Pubmed]
  5. Axenfeld anomaly in association with hypomelanosis of Ito. Flaherty, M.P., Padilla, C.D., Sillence, D.O. Ophthalmic paediatrics and genetics. (1991) [Pubmed]
  6. Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. Ferrell, R.E., Hittner, H.M., Kretzer, F.L., Antoszyk, J.H. Am. J. Hum. Genet. (1982) [Pubmed]
  7. Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Hittner, H.M., Kretzer, F.L., Antoszyk, J.H., Ferrell, R.E., Mehta, R.S. Am. J. Ophthalmol. (1982) [Pubmed]
  8. Posterior polar cataract: genetic analysis of a large family. Finzi, S., Li, Y., Mitchell, T.N., Farr, A., Maumenee, I.H., Sallum, J.M., Sundin, O. Ophthalmic Genet. (2005) [Pubmed]
  9. Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. Addison, P.K., Berry, V., Ionides, A.C., Francis, P.J., Bhattacharya, S.S., Moore, A.T. The British journal of ophthalmology. (2005) [Pubmed]
 
WikiGenes - Universities