Linberg, Kenneth A, Fariss, Robert N, Heckenlively, John R, Farber, Debora B, Fisher, Steven K
Retinal development in 3 strains of rd-3/rd-3 mutant mice, previously shown to have different rates of degeneration, was studied using light, electron, and immunofluorescence microscopy. The time...
Wissinger,Bernd, Van Driel,Marc A., Hoefsloot,Lies H., De Wijs,Ilse J., ...
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...
Wissinger, Bernd, Van Driel, Marc A., Hoefsloot, Lies H., De Wijs, Ilse J., ...
Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this gene, Rab escort protein (REP)-1, is...
An analysis of allelic variation in the ABCA4 gene (2001)
Webster, Andrew R., Heon, Elise, Lotery, Andrew J., Vandenburgh, Kimberlie, Casavant, Thomas L., Oh, Kean T., ...
PURPOSE. To assess the allelic variation of the ATP-binding transporter protein (ABCA4). METHODS. A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used...
Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice (2001)
Anderson, Michael G, Smith, Richard S, Savinova, Olga V, Hawes, Norman L, Chang, Bo, Zabaleta, Adriana, ...
Abstract Background Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often associated with elevated...
An analysis of allelic variation in the ABCA4 gene (2001)
Webster, Andrew R., Héon, Elise, Lotery, Andrew J., Vandenburgh, Kimberlie, Casavant, Thomas L., Oh, Kean T., ...
Purpose: To assess the allelic variation of the ATP-binding transporter protein (ABCA4). Methods: A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used...
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
Sligh, James E., Levy, Shawn E., Waymire, Katrina G., Allard, Paulette, Dillehay, Dirck L., Nusinowitz, Steven, ...
We report a method for introducing mtDNA mutations into the mouse female germ line by means of embryonic stem (ES) cell cybrids. Mitochondria were recovered from the brain of a NZB mouse by fusion of...
Akhmedov, Novrouz B., Piriev, Natik I., Chang, Bo, Rapoport, Ana Lia, Hawes, Norman L., Nishina, Patsy M., ...
The rd7 mouse, an animal model for hereditary retinal degeneration, has some characteristics similar to human flecked retinal disorders. Here we report the identification of a deletion in a...
Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice
Anderson, Michael G, Smith, Richard S, Savinova, Olga V, Hawes, Norman L, Chang, Bo, Zabaleta, Adriana, ...
Gao, Jiangang, Cheon, Kyeongmi, Nusinowitz, Steven, Liu, Qin, Bei, Di, Atkins, Karen, ...
Retinitis pigmentosa (RP), a common group of human retinopathic diseases, is characterized by late-onset night blindness, loss of peripheral vision, and diminished or absent electroretinogram (ERG)...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
Mears, Alan J., Hiriyanna, Suja, Vervoort, Raf, Yashar, Beverly, Gieser, Linn, Fahrner, Stacey, ...
X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was...
Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I
Astuto, Lisa M., Weston, Michael D., Carney, Carol A., Hoover, Denise M., Wagenaar, Mariette, ...
Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported....
Genetic heterogeneity among blue-cone monochromats
Nathans, Jeremy, Maumenee, Irene H., Zrenner, Eberhart, Sadowski, Bettina, Sharpe, Lindsay T., Lewis, Richard A., ...
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the tandem array of genes encoding the red- and...
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
Sligh, James E., Levy, Shawn E., Waymire, Katrina G., Allard, Paulette, Dillehay, Dirck L., Nusinowitz, Steven, ...
We report a method for introducing mtDNA mutations into the mouse female germ line by means of embryonic stem (ES) cell cybrids. Mitochondria were recovered from the brain of a NZB mouse by fusion of...
Akhmedov, Novrouz B., Piriev, Natik I., Chang, Bo, Rapoport, Ana Lia, Hawes, Norman L., Nishina, Patsy M., ...
The rd7 mouse, an animal model for hereditary retinal degeneration, has some characteristics similar to human flecked retinal disorders. Here we report the identification of a deletion in a...
Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice
Anderson, Michael G, Smith, Richard S, Savinova, Olga V, Hawes, Norman L, Chang, Bo, Zabaleta, Adriana, ...
Gao, Jiangang, Cheon, Kyeongmi, Nusinowitz, Steven, Liu, Qin, Bei, Di, Atkins, Karen, ...
Retinitis pigmentosa (RP), a common group of human retinopathic diseases, is characterized by late-onset night blindness, loss of peripheral vision, and diminished or absent electroretinogram (ERG)...
Breuer, Debra K., Yashar, Beverly M., Filippova, Elena, Hiriyanna, Suja, Lyons, Robert H., Mears, Alan J., ...
X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least five loci have been mapped for XLRP; of these, RP2 and RP3 account for...
Hollander, Anneke I. Den, Heckenlively, John R., Van den Born, L. Ingeborgh, De Kok, Yvette J. M., Van der Velde-Visser, Saskia D., Kellner, Ulrich, ...
Mutations in the crumbs homologue 1 (CRB1) gene cause a specific form of retinitis pigmentosa (RP) that is designated “RP12” and is characterized by a preserved para-arteriolar retinal pigment...
Mears, Alan J., Hiriyanna, Suja, Vervoort, Raf, Yashar, Beverly, Gieser, Linn, Fahrner, Stacey, ...
X-linked forms of retinitis pigmentosa (XLRP) are among the most severe, because of their early onset, often leading to significant vision loss before the 4th decade. Previously, the RP15 locus was...
Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I
Astuto, Lisa M., Weston, Michael D., Carney, Carol A., Hoover, Denise M., Wagenaar, Mariette, ...
Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported....
Genetic heterogeneity among blue-cone monochromats
Nathans, Jeremy, Maumenee, Irene H., Zrenner, Eberhart, Sadowski, Bettina, Sharpe, Lindsay T., Lewis, Richard A., ...
Thirty-three unrelated subjects with blue-cone monochromacy or closely related variants of blue-cone monochromacy were examined for rearrangements in the tandem array of genes encoding the red- and...