CATARACT 1, MULTIPLE TYPES; CTRCT1

Literature (4)

Literature for OMIM 116200: CATARACT 1, MULTIPLE TYPES; CTRCT1

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A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.
Molecular mechanism underlying a Cx50-linked congenital cataract., Pal JD,Berthoud VM,Beyer EC,Mackay D,Shiels A,Ebihara L, Am J Physiol. June 1, 1999; 276(6):0002-9513.
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts., Arora A,Minogue PJ,Liu X,Addison PK,Russel-Eggitt I,Webster AR,Hunt DM,Ebihara L,Beyer EC,Berthoud VM,Moore AT, J Med Genet. March 1, 2008; 45(3):1468-6244.
Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant., Tong JJ,Khan U,Haddad BG,Minogue PJ,Beyer EC,Berthoud VM,Reichow SL,Ebihara L, Biophys J. December 21, 2021; 120(24):1542-0086.

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.

Molecular mechanism underlying a Cx50-linked congenital cataract., Pal JD,Berthoud VM,Beyer EC,Mackay D,Shiels A,Ebihara L, Am J Physiol. June 1, 1999; 276(6):0002-9513.

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts., Arora A,Minogue PJ,Liu X,Addison PK,Russel-Eggitt I,Webster AR,Hunt DM,Ebihara L,Beyer EC,Berthoud VM,Moore AT, J Med Genet. March 1, 2008; 45(3):1468-6244.

Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant., Tong JJ,Khan U,Haddad BG,Minogue PJ,Beyer EC,Berthoud VM,Reichow SL,Ebihara L, Biophys J. December 21, 2021; 120(24):1542-0086.