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Pulverulent Cataract

Also Known As:

Cataract, Pulverulent

Networked: 12 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Pulverulent Cataract: 12
- Lens Diseases: 7
  - Cataract: 28071
    - Pulverulent Cataract: 12
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Pulverulent Cataract: 12

Related Diseases

1.	Cataract (Cataracts)

Experts

1.	Fu, Qiuyue: 1 article (01/2013)
2.	Li, Jinyu: 1 article (01/2013)
3.	Wang, Qiwei: 1 article (01/2013)
4.	Yao, Ke: 1 article (01/2013)
5.	Yu, Yinhui: 1 article (01/2013)
6.	Zhai, Yi: 1 article (01/2013)
7.	Zhang, Kai: 1 article (01/2013)
8.	Zhu, Yanan: 1 article (01/2013)
9.	Busko, Stefan: 1 article (10/2012)
10.	Heisterkamp, Alexander: 1 article (10/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pulverulent Cataract:

1.	connexin 50IBA 12/01/2001 - "Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract." 07/01/1999 - "Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin." 01/01/1999 - "We used the Xenopus oocyte pair system to investigate the functional properties of a missense mutation in the human connexin 50 gene (P88S) associated with zonular pulverulent cataract. " 01/01/2013 - "A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract."
2.	ConnexinsIBA 07/20/2006 - "A five-generation Hispanic pedigree with autosomal dominant zonular pulverulent cataract was studied to identify the causative mutation in connexin 46 (Cx46), a gap junction protein responsible for maintaining lens homeostasis. " 07/20/2006 - "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family." 01/01/2013 - "A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract."
3.	Blood Group Antigens (Blood Groups)IBA 03/01/1998 - "CZP1, a locus for autosomal dominant "zonular pulverulent" cataract, previously had been linked with the Duffy blood-group-antigen locus on chromosome 1q. " 12/01/1983 - "A large kindred (64 members in four generations), affected by a form of apparently congenital pulverulent cataract, was studied for linkage of its gene locus with that of the Fy blood group. "
4.	beta-CrystallinsIBA 11/01/2002 - "Here we have mapped dominant pulverulent cataract to the beta-crystallin gene cluster on chromosome 22q11.2. Suggestive evidence of linkage was detected at markers D22S1167 (LOD score [Z] 2.09 at recombination fraction [theta] 0) and D22S1154 (Z=1.39 at theta=0), which closely flank the genes for betaB1-crystallin (CRYBB1) and betaA4-crystallin (CRYBA4). "
5.	Initiator Codon (Start Codon)IBA 05/18/2009 - "Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract."
6.	Tyrosine (L-Tyrosine)FDA Link 10/01/2012 - "Recently, it was found that a mutation at the third position of hCx46 that substituted an aspartic acid residue with a tyrosine residue (hCx46D3Y) caused an autosomal dominant zonular pulverulent cataract. "
7.	Crystallins (Crystallin)IBA 12/01/2006 - "The authors focus attention on congenital lamellar cataract, which is associated with the R168W mutation in gammaC-crystallin, and congenital zonular pulverulent cataract, which is associated with a 5-bp insertion in the gammaC-crystallin gene. "
8.	Codon (Codons)IBA 06/17/2008 - "Mutations of the same codon have previously been described in British families with pulverulent cataract, suggesting that modifying factors may determine the type of cataract."
9.	Aspartic Acid (Aspartate)FDA Link 10/01/2012 - "Recently, it was found that a mutation at the third position of hCx46 that substituted an aspartic acid residue with a tyrosine residue (hCx46D3Y) caused an autosomal dominant zonular pulverulent cataract. "