Arora(A),Minogue(P J),Liu(X),Reddy(M A),Ai... J Med Genet 2006-12-15

...GJA8 mutation and has a different clinical phenotype from previously described GJA8 mutants. The cataract likely results...

Vanita(Vanita),Hennies(Hans Christian),Sin... Mol Vis 2006-12-21

...GJA8) at 1q21. Mutation screening in GJA8 identified a novel G>C transversion at nucleotide position c.235. This nucleot...

Xia(Chun-Hong),Liu(Haiquan),Cheung(Debra),... Development 2006-07-13

...Gja8) and alpha8 connexin (Cx50 or Gja8), subunits of lens gap junction channels, cause a variety of cataracts via unkno...

Devi(Ramachandran Ramya),Vijayalakshmi(Per... Mol Vis 2006-05-18

...GJA8) as a cause of congenital or developmental cataracts in the Indian population and to identify novel mutations in GJ...

Zhang(Xinyu),Liu(Yizhi),Luo(Lixia),Wu(Ming... Yan Ke Xue Bao 2005-03-29

...GJA8, CRYGC, CRYBB2, GJA3, MIP and BFSP2) have been identified as causes of autosomal dominant congenital cataract (ADCC...

Gerido(Dwan A),White(Thomas W) Biochim Biophys Acta 2004-05-04

...GJA8), and recent scientific evidence characterizing those diseases in various experimental models.

Christiansen(Jesse),Dyck(John D),Elyas(Bas... Circ Res 2004-12-17

...GJA8) was determined by real-time PCR for all apparent positive cases. In total, 3 cases were found to carry deletions o...

Santhiya(Sathiyavedu T),Manisastry(Shyam M... Invest Ophthalmol Vis Sci 2004-11-06

...GJA8 by PCR analyses and sequencing. Genomic DNA samples of either probands or any representative affected member of eac...

Klopp(Norman),Héon(Elise),Billingsley(Gail... Ophthalmic Res 2003-05-27

...GJA8, CRYBB2, BFSP2, MIP, GJA8, CENTRAL POUCH-LIKE, CRYBA1) were investigated by microsatellite markers and linkage anal...

Graw(Jochen),Löster(Jana) Ophthalmic Genet 2003-04-18

...Gja8 lead to dominant cataracts. (3) alphaA-crystallin is present in the mouse lens cup, in the posterior half of the le...