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Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19).
Kerscher S, Church RL, Boyd Y, Lyon MF. Kerscher S, et al. Genomics. 1995 Sep 20;29(2):445-50. doi: 10.1006/geno.1995.9983. Genomics. 1995. PMID: 8666393
Four genes encoding eye lens-specific proteins, potential candidate genes for congenital cataract (CC) mutations, were mapped in the mouse genome using a panel of somatic cell hybrids and DNAs from the EU-CIB (European Collaborative Interspecific Backcross). Two of them are lens …
Four genes encoding eye lens-specific proteins, potential candidate genes for congenital cataract (CC) mutations, were mapped in the mouse g …
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.
Khidiyatova I, Khidiyatova I, Zinchenko R, Marakhonov A, Karunas A, Avkhadeeva S, Aznzbaev M, Khusnutdinova E. Khidiyatova I, et al. Curr Issues Mol Biol. 2023 Jun 15;45(6):5145-5163. doi: 10.3390/cimb45060327. Curr Issues Mol Biol. 2023. PMID: 37367076 Free PMC article.
Therefore, a comprehensive approach to studying hereditary cataracts is necessary for early diagnosis and improved treatment outcomes. The crystallin (CRYAA, CRYAB, CRYGC, CRYGD, and CRYBA1) and connexin (GJA8, GJA3) genes were analyzed in 45 unrelated families from …
Therefore, a comprehensive approach to studying hereditary cataracts is necessary for early diagnosis and improved treatment outcomes. The c …
Mutation analysis of 12 genes in Chinese families with congenital cataracts.
Sun W, Xiao X, Li S, Guo X, Zhang Q. Sun W, et al. Mol Vis. 2011;17:2197-206. Epub 2011 Aug 16. Mol Vis. 2011. PMID: 21866213 Free PMC article.
The coding exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing, including the alpha A crystallin (CRYAA), alpha B crystallin (CRYAB), beta A1 crystallin (CRYBA1), beta A4 crystallin (CRYBA4), beta B1 crystallin (CRYBB1), beta B2 crystallin (CR …
The coding exons and adjacent intronic regions of 12 genes were analyzed by cycle sequencing, including the alpha A crystallin (CRYAA), alph …
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.
Vanita V, Singh JR, Singh D, Varon R, Sperling K. Vanita V, et al. Mol Vis. 2008 Jun 17;14:1171-5. Mol Vis. 2008. PMID: 18587493 Free PMC article.
Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin (CRYBA1), betaB2-crystallin (CRYBB2), gammaA-gammaD-crystallins (CRYGA, CRYGB, CRYGC, and CRYGD), connexin-46 (GJA3), and connexin-50 (GJA8), was performed by bidirectional seque …
Mutation screening in the candidate genes, alphaA-crystallin (CRYAA), betaA1-crystallin (CRYBA1), betaB2-crystallin (CRYBB2), gammaA- …
Molecular and structural analysis of genetic variations in congenital cataract.
Kumar M, Agarwal T, Kaur P, Kumar M, Khokhar S, Dada R. Kumar M, et al. Mol Vis. 2013 Nov 24;19:2436-50. eCollection 2013. Mol Vis. 2013. PMID: 24319337 Free PMC article.
Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRYGs, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, beaded filament structural protein 1 (BFSP1), gap function protein, alpha 3 (GJA3), GJ …
Centre for Ophthalmic Sciences, a tertiary research and referral hospital (AIIMS, New Delhi, India). Crystallin, alpha A (CRYAA), CRYAB, CRY …
Epidemiology and molecular genetics of congenital cataracts.
Yi J, Yun J, Li ZK, Xu CT, Pan BR. Yi J, et al. Int J Ophthalmol. 2011;4(4):422-32. doi: 10.3980/j.issn.2222-3959.2011.04.20. Epub 2011 Aug 18. Int J Ophthalmol. 2011. PMID: 22553694 Free PMC article.
Congenital cataract-related genes, included crystallin protein gene (CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS), gap junction channel protein gene (GJA1, GJA3, GJA8), membrane protein gene (GJA3, GJA8, MIP, LIM2), cytoskelet …
Congenital cataract-related genes, included crystallin protein gene (CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, …
Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.
Qi C, He Y, Jiang C, Zhang X, Zhu P, Li W, Zhou H, Xue C, Xia X. Qi C, et al. Mol Med Rep. 2023 Jun;27(6):121. doi: 10.3892/mmr.2023.13008. Epub 2023 May 11. Mol Med Rep. 2023. PMID: 37165913 Free PMC article.
The sequencing analysis results revealed a mutation c.592-c593insG (p.W198Wfs*22) in exon 6 of CRYBA1/A3, a known mutation c.463C > T (p.Q155X) in exon 6 of CRYBB2 and a third mutation c.865-c.866insC (p.T289Tfs*91) in exon 2 of GJA8. ...
The sequencing analysis results revealed a mutation c.592-c593insG (p.W198Wfs*22) in exon 6 of CRYBA1/A3, a known mutation c.463C &gt …
[Progress in pathogenic genes and their functions of congenital cataract].
Wang KJ, Zhu SQ, Cheng J. Wang KJ, et al. Zhonghua Yan Ke Za Zhi. 2010 Mar;46(3):280-4. Zhonghua Yan Ke Za Zhi. 2010. PMID: 20450675 Review. Chinese.
Currently, at least 22 specific genes associated with isolated inherited cataract have been identified: ten crystallin genes: CRYAA, CRYAB, CRYBA1/A3, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS; 4 membrane protein genes: GJA3, GJA8, MIP, LIM2; three growth …
Currently, at least 22 specific genes associated with isolated inherited cataract have been identified: ten crystallin genes: CRYAA, CRYAB, …
Exome Sequencing and Epigenetic Analysis of Twins Who Are Discordant for Congenital Cataract.
Wei T, Sun H, Hu B, Yang J, Qiao C, Yan M. Wei T, et al. Twin Res Hum Genet. 2015 Aug;18(4):393-8. doi: 10.1017/thg.2015.34. Epub 2015 Jun 5. Twin Res Hum Genet. 2015. PMID: 26045100
METHODS: A patient with a congenital cataract and her twin sister were assessed for genetic factors that might contribute to their discordant phenotypes by mutation screening of 11 candidate genes (CRYGC, CRYGD, CRYAA, CRYAB, CRYBA1, CRYBB1, CRYBB2, MIP, HSF4, GJA3, and …
METHODS: A patient with a congenital cataract and her twin sister were assessed for genetic factors that might contribute to their discordan …
A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type.
Vanita V, Singh D. Vanita V, et al. Mol Cell Biochem. 2012 Sep;368(1-2):167-72. doi: 10.1007/s11010-012-1355-2. Epub 2012 Jun 6. Mol Cell Biochem. 2012. PMID: 22669729 Clinical Trial.
Mutation screening in twenty three candidate genes including crystallins (CRYAA, CRYAB, CRYBA1/A3, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, and CRYGS), gap junctional channels; connexins (GJA8, GJA3), beaded filament chain proteins (BFSP1, …
Mutation screening in twenty three candidate genes including crystallins (CRYAA, CRYAB, CRYBA1/A3, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CR …
13 results