1
|
Bermejo E and Martínez-Frías ML:
Congenital eye malformations: clinical-epidemiological analysis of
1,124,654 consecutive births in Spain. Am J Med Genet. 75:497–504.
1998. View Article : Google Scholar : PubMed/NCBI
|
2
|
Haargaard B, Wohlfahrt J, Fledelius HC,
Rosenberg T and Melbye M: A nationwide Danish study of 1027 cases
of congenital/infantile cataracts: etiological and clinical
classifications. Ophthalmology. 111:2292–2298. 2004. View Article : Google Scholar : PubMed/NCBI
|
3
|
Shiels A, Bennett TM and Hejtmancik JF:
Cat-Map: putting cataract on the map. Mol Vis. 16:2007–2015.
2010.PubMed/NCBI
|
4
|
Huang B and He W: Molecular
characteristics of inherited congenital cataracts. Eur J Med Genet.
53:347–357. 2010. View Article : Google Scholar : PubMed/NCBI
|
5
|
Reddy MA, Francis PJ, Berry V,
Bhattacharya SS and Moore AT: Molecular genetic basis of inherited
cataract and associated phenotypes. Surv Ophthalmol. 49:300–315.
2004. View Article : Google Scholar : PubMed/NCBI
|
6
|
Hejtmancik JF: Congenital cataracts and
their molecular genetics. Semin Cell Dev Biol. 19:134–149. 2008.
View Article : Google Scholar :
|
7
|
World Medical Association: World Medical
Association Declaration of Helsinki: Ethical principles for medical
research involving human subjects. JAMA. 310:2191–2194. 2013.
View Article : Google Scholar : PubMed/NCBI
|
8
|
Beyer EC, Ebihara L and Berthoud VM:
Connexin mutants and cataracts. Front Pharmacol. 4:432013.
View Article : Google Scholar : PubMed/NCBI
|
9
|
Graw J: Genetics of crystallins: cataract
and beyond. Exp Eye Res. 88:173–189. 2009. View Article : Google Scholar
|
10
|
Hsu CD, Kymes S and Petrash JM: A
transgenic mouse model for human autosomal dominant cataract.
Invest Ophthalmol Vis Sci. 47:2036–2044. 2006. View Article : Google Scholar : PubMed/NCBI
|
11
|
Menko AS and Andley UP: αA-Crystallin
associates with α6 integrin receptor complexes and regulates
cellular signaling. Exp Eye Res. 91:640–651. 2010. View Article : Google Scholar : PubMed/NCBI
|
12
|
Sharma KK, Kumar RS, Kumar GS and Quinn
PT: Synthesis and characterization of a peptide identified as a
functional element in alphaA-crystallin. J Biol Chem.
275:3767–3771. 2000. View Article : Google Scholar : PubMed/NCBI
|
13
|
Devi RR, Yao W, Vijayalakshmi P, Sergeev
YV, Sundaresan P and Hejtmancik JF: Crystallin gene mutations in
Indian families with inherited pediatric cataract. Mol Vis.
14:1157–1170. 2008.PubMed/NCBI
|
14
|
Gong B, Zhang LY, Pang CP, Lam DS and Yam
GH: Trimethylamine N-oxide alleviates the severe aggregation and ER
stress caused by G98R alphaA-crystallin. Mol Vis. 15:2829–2840.
2009.PubMed/NCBI
|
15
|
Hansen L, Yao W, Eiberg H, et al: Genetic
heterogeneity in microcornea-cataract: five novel mutations in
CRYAA, CRYGD and GJA8. Invest Ophthalmol Vis Sci. 48:3937–3944.
2007. View Article : Google Scholar : PubMed/NCBI
|
16
|
Litt M, Kramer P, LaMorticella DM, Murphey
W, Lovrien EW and Weleber RG: Autosomal dominant congenital
cataract associated with a missense mutation in the human alpha
crystallin gene CRYAA. Hum Mol Genet. 7:471–474. 1998. View Article : Google Scholar : PubMed/NCBI
|
17
|
Mackay DS, Andley UP and Shiels A: Cell
death triggered by a novel mutation in the alphaA-crystallin gene
underlies autosomal dominant cataract linked to chromosome 21q. Eur
J Hum Genet. 11:784–793. 2003. View Article : Google Scholar : PubMed/NCBI
|
18
|
Raju I and Abraham EC: Congenital cataract
causing mutants of alphaA-crystallin/sHSP form aggregates and
aggresomes degraded through ubiquitin-proteasome pathway. PLoS One.
6:e280852011. View Article : Google Scholar
|
19
|
Santhiya ST, Soker T, Klopp N, et al:
Identification of a novel, putative cataract-causing allele in
CRYAA (G98R) in an Indian family. Mol Vis. 12:768–773.
2006.PubMed/NCBI
|
20
|
Zhang LY, Yam GH, Tam PO, et al: An
alphaA-crystallin gene mutation, Arg12Cys, causing inherited
cataract-microcornea exhibits an altered heat-shock response. Mol
Vis. 15:1127–1138. 2009.PubMed/NCBI
|
21
|
Goodenough DA: Lens gap junctions: a
structural hypothesis for nonregulated low-resistance intercellular
pathways. Invest Ophthalmol Vis Sci. 18:1104–1122. 1979.PubMed/NCBI
|
22
|
Nielsen MS, Nygaard Axelsen L, Sorgen PL,
Verma V, Delmar M and Holstein-Rathlou NH: Gap junctions. Compr
Physiol. 2:1981–2035. 2012.
|
23
|
Gong X, Li E, Klier G, Huang Q, Wu Y, Lei
H, Kumar NM, Horwitz J and Gilula NB: Disruption of alpha3 connexin
gene leads to proteolysis and cataractogenesis in mice. Cell.
91:833–843. 1997. View Article : Google Scholar : PubMed/NCBI
|
24
|
Rong P, Wang X, Niesman I, Wu Y, Benedetti
LE, Dunia I, Levy E and Gong X: Disruption of Gja8 (alpha8
connexin) in mice leads to microphthalmia associated with
retardation of lens growth and lens fiber maturation. Development.
129:167–174. 2002.PubMed/NCBI
|
25
|
Li J, Wang Q, Fu Q, et al: A novel
connexin 50 gene (gap junction protein, alpha 8) mutation
associated with congenital nuclear and zonular pulverulent
cataract. Mol Vis. 19:767–774. 2013.PubMed/NCBI
|
26
|
Lin Y, Liu NN, Lei CT, et al: A novel GJA8
mutation in a Chinese family with autosomal dominant congenital
cataract. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 25:59–62.
2008.PubMed/NCBI
|
27
|
Wang L, Luo Y, Wen W, Zhang S and Lu Y:
Another evidence for a D47N mutation in GJA8 associated with
autosomal dominant congenital cataract. Mol Vis. 17:2380–2385.
2011.PubMed/NCBI
|
28
|
Arora A, Minogue PJ, Liu X, et al: A novel
connexin 50 mutation associated with congenital nuclear pulverulent
cataracts. J Med Genet. 45:155–160. 2008. View Article : Google Scholar
|
29
|
Minogue PJ, Tong JJ, Arora A, et al: A
mutant connexin 50 with enhanced hemichannel function leads to cell
death. Invest Ophthalmol Vis Sci. 50:5837–5845. 2009. View Article : Google Scholar : PubMed/NCBI
|
30
|
Sellitto C, Li L and White TW: Connexin 50
is essential for normal postnatal lens cell proliferation. Invest
Ophthalmol Vis Sci. 45:3196–3202. 2004. View Article : Google Scholar : PubMed/NCBI
|