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1995 1
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Page 1
Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2.
Shiels A, King JM, Mackay DS, Bassnett S. Shiels A, et al. Invest Ophthalmol Vis Sci. 2007 Feb;48(2):500-8. doi: 10.1167/iovs.06-0947. Invest Ophthalmol Vis Sci. 2007. PMID: 17251442
PURPOSE: To characterize the optical properties of lenses from mice deficient in the gene for lens intrinsic membrane protein-2 (Lim2), which encodes the second most abundant integral protein (Lim2) of lens fib …
PURPOSE: To characterize the optical properties of lenses from mice deficient in the gene for lens intrinsic membran …
The mouse lens fiber-cell intrinsic membrane protein MP19 gene (Lim2) and granule membrane protein GMP-17 gene (Nkg7): Isolation and sequence analysis of two neighboring genes.
Zhou L, Li X, Church RL. Zhou L, et al. Mol Vis. 2001 Apr 2;7:79-88. Mol Vis. 2001. PMID: 11290961 Free article.
PURPOSE: The lens fiber cell intrinsic membrane protein MP19 appears to play a key role in lens fiber cell structure or communication, and thus cataractogenesis. ...From this screening, an 11 kb genomic fragment was isolated which contained the …
PURPOSE: The lens fiber cell intrinsic membrane protein MP19 appears to play a key role in lens fiber cel …
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. PLoS One. 2016 Nov 4;11(11):e0162620. doi: 10.1371/journal.pone.0162620. eCollection 2016. PLoS One. 2016. PMID: 27814360 Free PMC article.
A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2), was sequenced bi-directionally to identify the disease-causing mutation. ...The expression of …
A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic …
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
Two of them are lens fiber cell structural proteins: the Cryba1 locus encoding crystallinbetaA3/A1 maps to chromosome 11, 2.5 +/- 2.5 cM distal to D11Mit31, and the Crybb2 locus encoding crystallinbetaB2 maps to chromosome 5, 9.1 +/- 4.3 cM distal to D …
Two of them are lens fiber cell structural proteins: the Cryba1 locus encoding crystallinbetaA3/A1 maps to chromosome 11, 2 …
Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
Zhou Z, Wang B, Hu S, Zhang C, Ma X, Qi Y. Zhou Z, et al. Mol Vis. 2011 Feb 26;17:621-6. Mol Vis. 2011. PMID: 21386927 Free PMC article.
PURPOSE: To investigate the role of genetic variations in three known cataract-associated genes, gap junction protein alpha3 (GJA3), gap junction protein alpha8 (GJA8), lens intrinsic membrane protein 2 (LIM2), encoding l …
PURPOSE: To investigate the role of genetic variations in three known cataract-associated genes, gap junction protein alpha3 (GJA3), …
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.
Berry V, Pontikos N, Dudakova L, Moore AT, Quinlan R, Liskova P, Michaelides M. Berry V, et al. Ophthalmic Genet. 2020 Apr;41(2):131-134. doi: 10.1080/13816810.2020.1737950. Epub 2020 Mar 23. Ophthalmic Genet. 2020. PMID: 32202185
We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family.Methods: Whole exome sequencing (WES) was performed on one affected member in the British family and two affected members in the Czech family.Results: A …
We identified the genetic cause of isolated autosomal dominant cataract in a four-generation British family and a Czech family.Methods: Whol …
MP20, the second most abundant lens membrane protein and member of the tetraspanin superfamily, joins the list of ligands of galectin-3.
Gonen T, Grey AC, Jacobs MD, Donaldson PJ, Kistler J. Gonen T, et al. BMC Cell Biol. 2001;2:17. doi: 10.1186/1471-2121-2-17. Epub 2001 Aug 14. BMC Cell Biol. 2001. PMID: 11532191 Free PMC article.
BACKGROUND: Although MP20 is the second most highly expressed membrane protein in the lens its function remains an enigma. Putative functions for MP20 have recently been inferred from its assignment to the tetraspanin superfamily of integral membrane …
BACKGROUND: Although MP20 is the second most highly expressed membrane protein in the lens its function remains an enig …
A novel mutation of LIM2 causes autosomal dominant membranous cataract in a Chinese family.
Pei R, Liang PF, Ye W, Li J, Ma JY, Zhou J. Pei R, et al. Int J Ophthalmol. 2020 Oct 18;13(10):1512-1520. doi: 10.18240/ijo.2020.10.02. eCollection 2020. Int J Ophthalmol. 2020. PMID: 33078099 Free PMC article.
Cell membrane proteins and cytoplasmic proteins from the human lenses donated by one patient with cataract in this family and from the dislocated lens resulted from the penetrating ocular trauma of a patient unrelated with this family were extra …
Cell membrane proteins and cytoplasmic proteins from the human lenses donated by one patient with cataract in th …
A missense mutation in LIM2 causes autosomal recessive congenital cataract.
Ponnam SP, Ramesha K, Tejwani S, Matalia J, Kannabiran C. Ponnam SP, et al. Mol Vis. 2008 Jun 23;14:1204-8. Mol Vis. 2008. PMID: 18596884 Free PMC article.
Probands were screened for pathogenic alterations in 10 different candidate genes including the lens intrinsic membrane protein-2 (LIM2) gene. Exons and flanking regions were screened by polymerase chain reaction (PCR) amplification, sing …
Probands were screened for pathogenic alterations in 10 different candidate genes including the lens intrinsic membrane …
Lim2(To3) transgenic mice establish a causative relationship between the mutation identified in the lim2 gene and cataractogenesis in the To3 mouse mutant.
Steele EC Jr, Wang JH, Lo WK, Saperstein DA, Li X, Church RL. Steele EC Jr, et al. Mol Vis. 2000 Jun 2;6:85-94. Mol Vis. 2000. PMID: 10851259 Free article.
PURPOSE: Lim2 is the gene encoding the ocular lens-specific intrinsic membrane protein MP19. ...A restriction endonuclease map of the gene was generated using classical Southern techniques. The murine Lim2 promoter was characterized by tr …
PURPOSE: Lim2 is the gene encoding the ocular lens-specific intrinsic membrane protein MP19. ...A restric …
16 results