Journal ArticleDOI
Transgenic mice with a rhodopsin mutation (Pro23His): A mouse model of autosomal dominant retinitis pigmentosa
Jane E. Olsson,Jon W. Gordon,Basil S. Pawlyk,Dorothy J. Roof,Annmarie Hayes,Robert S. Molday,Shizuo Mukai,Glenn S. Cowley,Eliot L. Berson,Thaddeus P. Dryja +9 more
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TLDR
This work inserts into the germline of mice either a mutant or wild-type allele from a patient with retinitis pigmentosa and a missense mutation (P23H) in the rhodopsin gene, helping to establish the pathogenicity of mutant human P23H rod opsin and suggest that overexpression of wild- type human rods opsin leads to a remarkably similar photoreceptor degeneration.About:
This article is published in Neuron.The article was published on 1992-11-01. It has received 468 citations till now. The article focuses on the topics: Retinitis pigmentosa & Retinal degeneration.read more
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Mice Lacking p27Kip1 Display Increased Body Size, Multiple Organ Hyperplasia, Retinal Dysplasia, and Pituitary Tumors
Keiko Nakayama,Keiko Nakayama,Noriko Ishida,Michiko Shirane,Akira Inomata,Tomoaki Inoue,Nobuyuki Shishido,Ikuo Horii,Dennis Y. Loh,Dennis Y. Loh,Keiichi I. Nakayama,Keiichi I. Nakayama +11 more
TL;DR: Findings indicate that p27(Kip1) acts to regulate the growth of a variety of cells, and surprises us by keeping the cell cycle arrest mediated by TGFbeta, rapamycin, or contact inhibition intact in p27(-/-) cells.
Journal ArticleDOI
Cyclin D1 provides a link between development and oncogenesis in the retina and breast
Piotr Sicinski,Joana Liu Donaher,Susan B. Parker,Susan B. Parker,Tiansen Li,Amin Fazeli,Humphrey Gardner,Sandra Z. Haslam,Roderick T. Bronson,Stephen J. Elledge,Robert A. Weinberg +10 more
TL;DR: In adult mutant females, the breast epithelial compartment fails to undergo the massive proliferative changes associated with pregnancy despite normal levels of ovarian steroid hormones, suggesting that steroid-induced proliferation of mammary epithelium during pregnancy may be driven through cyclin D1.
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Neural remodeling in retinal degeneration.
TL;DR: Retinal remodeling is not plasticity, but represents the invocation of mechanisms resembling developmental and CNS plasticities and together, neuronal remodeling and the formation of the glial seal may abrogate many cellular and bionic rescue strategies.
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Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes.
Shiming Chen,Qing Liang Wang,Zuqin Nie,Hui Sun,Gregory G. Lennon,Neal G. Copeland,Debra J. Gilbert,Nancy A. Jenkins,Donald J. Zack +8 more
TL;DR: These studies implicate Crx as a potentially important regulator of photoreceptor cell development and gene expression and also identify it as a candidate gene for CORDII and other retinal diseases.
References
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Journal ArticleDOI
Lambda replacement vectors carrying polylinker sequences
TL;DR: A new family of lambda replacement vectors and derivatives containing amber mutations and derivatives of the EMBL3 vector allow the application of genetic screening procedures based on selection for the products of homologous recombination events, and for the selective cloning of DNA sequences linked to supF genes.
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A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
Thaddeus P. Dryja,Terri L. McGee,Elias Reichel,Lauri B. Hahn,Glenn S. Cowley,David W. Yandell,Michael A. Sandberg,Eliot L. Berson +7 more
TL;DR: A C→A transversion in codon 23 (corresponding to a proline →histidine substitution) in 17 of 148 unrelated patients and not in any of 102 unaffected individuals indicates that this mutation could be the cause of one form of autosomal dominant retinitis pigmentosa.
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Integration and stable germ line transmission of genes injected into mouse pronuclei
Jon W. Gordon,Frank H. Ruddle +1 more
TL;DR: The evidence presented indicates the covalent association of injected DNA with host sequences, and transmission of such linked sequences in a Mendelian distribution to two succeeding generations of progeny.
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Inherited retinal dystrophy: primary defect in pigment epithelium determined with experimental rat chimeras
TL;DR: In the mosaic eyes, patches of neural retina with abnormal and degenerated photoreceptors were present only opposite patches of nonpigmented, mutant pigment epithelium, which indicates that the retinal dystrophy gene acts in the pigment epithelial cell rather than in the photoreceptor cell.
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Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa.
TL;DR: The data suggest that there are at least two distinct biochemical defects associated with different rhodopsin mutants in ADRP, and that the mutants are transported inefficiently to the plasma membrane.