Cloning of a gene that is rearranged in patients with choroideraemia

Molecular Cloning: A Laboratory Manual

Sambrook, J., Fritsch, E., & Maniatis, T. (1989) · UCLA - Biblioteca de Ciencias de la Salud · Cited by 133,589 · see citing works

Molecular cloning: A laboratory manual

Deininger, P. L. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90595-z · Cited by 84,684 · see citing works

The Metabolic Basis of Inherited Disease.

(1988) · Annals of Internal Medicine · doi:10.7326/0003-4819-108-3-503_7 · Cited by 7,807 · see citing works

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

(1984) · Analytical Biochemistry · doi:10.1016/0003-2697(84)90381-6 · Cited by 4,950 · see citing works

The Metabolic Basis of Inherited Disease.

(1983) · Annals of Internal Medicine · doi:10.7326/0003-4819-99-3-425_3 · Cited by 2,687 · see citing works

Purification of Mouse Immunoglobulin Heavy‐Chain Messenger RNAs from Total Myeloma Tumor RNA

Auffray, C., & Rougeon, F. (1980) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1980.tb06030.x · Cited by 2,626 · see citing works

Amino Acid Sequences Common to Rapidly Degraded Proteins: The PEST Hypothesis

Rogers, S. W., Wells, R., & RECHSTEINER, M. C. (1986) · Science · doi:10.1126/science.2876518 · Cited by 2,565 · see citing works

Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and Red Pigments

Nathans, J., Thomas, D., & Hogness, D. S. (1986) · Science · doi:10.1126/science.2937147 · Cited by 1,732 · see citing works

Dideoxy sequencing method using denatured plasmid templates

Hattori, M., & Sakaki, Y. (1986) · Analytical Biochemistry · doi:10.1016/0003-2697(86)90403-3 · Cited by 1,469 · see citing works

Mapping of RNA by a modification of the Berk-Sharp procedure: the 5′ termini of 15 S β-globin mRNA precursor and mature 10 S β-globin mRNA have identical map coordinates

Weaver, R. F., & Weissmann, C. (1979) · Nucleic Acids Research · doi:10.1093/nar/7.5.1175 · Cited by 1,301 · see citing works

SPLICING OF MESSENGER RNA PRECURSORS

Padgett, R. A., Grabowski, P. J., Konarska, M. M., Seiler, S., & Sharp, P. A. (1986) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.55.070186.005351 · Cited by 1,224 · see citing works

At least six nucleotides preceding the AUG initiator codon enhance translation in mammalian cells

Kozak, M. (1987) · Journal of Molecular Biology · doi:10.1016/0022-2836(87)90418-9 · Cited by 1,182 · see citing works

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

Dryja, T. P., McGee, T. L., Reichel, E., Hahn, L. B., Cowley, G. S., Yandell, D. W., Sandberg, M. A., & Berson, E. L. (1990) · Nature · doi:10.1038/343364a0 · Cited by 1,072 · see citing works

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A., & Sutcliffe, J. G. (1989) · Nature · doi:10.1038/338070a0 · Cited by 400 · see citing works

Retinitis Pigmentosa

Heckenlively, J. R. (1987) · Cited by 229 · see citing works

The ovalbumin gene family: Hormonal control of X and Y gene transcription and mRNA accumulation

LeMeur, M., Glanville, N., Mandel, J., et al. (1981) · Cell · doi:10.1016/0092-8674(81)90152-5 · Cited by 214 · see citing works

The genes coding for the cytoskeletal proteins actin and vimentin in warm‐blooded vertebrates.

DODEMONT, H. J., Soriano, P. M., Quax, W. J., et al. (1982) · The EMBO Journal · doi:10.1002/j.1460-2075.1982.tb01142.x · Cited by 134 · see citing works

Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes

Cremers, F. P. M., van de Pol, D. J. R., Diergaarde, P. J., et al. (1989) · Genomics · doi:10.1016/0888-7543(89)90312-1 · Cited by 95 · see citing works

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

Merry, D. E., Lesko, J. G., Sosnoski, D. M., et al. (1989) · PubMed · Cited by 79 · see citing works

Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse.

Rickman, C. B., Danciger, M., Kozak, C. A., & Farber, D. B. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.24.9722 · Cited by 71 · see citing works

Adenovirus E1A‐mediated regulation of class I MHC expression.

Vaessen, R. T. M. J., Houweling, A., Israël, A., Kourilsky, P., & van der Eb, A. J. (1986) · The EMBO Journal · doi:10.1002/j.1460-2075.1986.tb04217.x · Cited by 64 · see citing works

Mode of Inheritance in Chorioideremia

Goedbloed, J. (2010) · Ophthalmologica · doi:10.1159/000300062 · Cited by 40 · see citing works

Deletion of the DXS165 locus in patients with classical Choroideremia

Cremers, F. P. M., Brunsmann, F., van de Pol, T. J. R., et al. (1987) · Clinical Genetics · doi:10.1111/j.1399-0004.1987.tb03166.x · Cited by 37 · see citing works

CHORIOIDEREMIE ALS ERBMERKMAL

Waardenburg, P. J. (1942) · Acta Ophthalmologica · doi:10.1111/j.1755-3768.1942.tb06305.x · Cited by 30 · see citing works

Choroideremia associated with an X-autosomal translocation

Siu, V. M., Gonder, J. R., Jung, J. H., et al. (1990) · Human Genetics · doi:10.1007/bf00195820 · Cited by 27 · see citing works

Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.

Cremers, F. P. M., van de Pol, D. J. R., Wieringa, B., Collins, F. S., Sankila, E., Siu, V. M., Flintoff, W. F., Brunsmann, F., Blonden, L. A. J., & Ropers, H.-H. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.19.7510 · Cited by 22 · see citing works

DXS165 detects a translocation breakpoint in a woman with choroideremia and a de novo X; 13 translocation

Merry, D. E., Lesko, J. G., Siu, V. M., Funtoff, W. F., Collins, F. S., Lewis, R. A., & Nussbaum, R. L. (1990) · Genomics · doi:10.1016/0888-7543(90)90494-f · Cited by 20 · see citing works

Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis

van de Pol, T. J. R., Cremers, F. P. M., Brohet, R. M., Wieringa, B., & Ropers, H.-H. (1990) · Nucleic Acids Research · doi:10.1093/nar/18.4.725 · Cited by 19 · see citing works

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

MacLaren, R. E., Groppe, M., Barnard, A. R., Cottriall, C. L., Tolmachova, T., Seymour, L., Clark, K. R., During, M. J., Cremers, F. P. M., Black, G. C. M., et al. (2014) · The Lancet · doi:10.1016/s0140-6736(13)62117-0 · Cited by 796 · see citing works

The cell biology of the retinal pigment epithelium

Lakkaraju, A., Umapathy, A., Tan, L. X., Daniele, L., Philp, N. J., Boesze-Battaglia, K., & Williams, D. S. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100846 · Cited by 422 · see citing works

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

Seabra, M. C., Brown, M. S., & Goldstein, J. L. (1993) · Science · doi:10.1126/science.8380507 · Cited by 337 · see citing works

Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product

Seabra, M. C., Brown, M. S., Slaughter, C. A., Südhof, T. C., & Goldstein, J. L. (1992) · Cell · doi:10.1016/0092-8674(92)90253-9 · Cited by 300 · see citing works

A comprehensive review of retinal gene therapy

Boye, S. E., Boye, S. L., Lewin, A. S., & Hauswirth, W. W. (2013) · Molecular Therapy · doi:10.1038/mt.2012.280 · Cited by 262 · see citing works

Molecular Genetics of Human Retinal Disease

Rattner, A., Sun, H., & Nathans, J. (1999) · Annual Review of Genetics · doi:10.1146/annurev.genet.33.1.89 · Cited by 228 · see citing works

Deficient geranylgeranylation of Ram/Rab27 in choroideremia

Seabra, M. C., Ho, Y. K., & Anant, J. S. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.41.24420 · Cited by 223 · see citing works

Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia

Xue, K., Jolly, J. K., Barnard, A. R., Rudenko, A., Salvetti, A. P., Patrício, M. I., Edwards, T. L., Groppe, M., Orlans, H. O., Tolmachova, T., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0185-5 · Cited by 185 · see citing works

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives

Garafalo, A. V., Cideciyan, A. V., Héon, E., Sheplock, R., Pearson, A., WeiYang Yu, C., Sumaroka, A., Aguirre, G. D., & Jacobson, S. G. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100827 · Cited by 173 · see citing works

Suprachoroidal gene transfer with nonviral nanoparticles

Shen, J., Kim, J., Tzeng, S. Y., Ding, K., Hafiz, Z., Long, D., Wang, J., Green, J. J., & Campochiaro, P. A. (2020) · Science Advances · doi:10.1126/sciadv.aba1606 · Cited by 63 · see citing works

Focused Update on AAV-Based Gene Therapy Clinical Trials for Inherited Retinal Degeneration

Fuller-Carter, P. I., Basiri, H., Harvey, A. R., & Carvalho, L. S. (2020) · BioDrugs · doi:10.1007/s40259-020-00453-8 · Cited by 41 · see citing works

The physiology of the retinal pigment epithelium in Danon disease

Thompson, D. A., Constable, P. A., Liasis, A., Walters, B., & Esteban, M. T. (2016) · Retina · doi:10.1097/iae.0000000000000736 · Cited by 31 · see citing works

Ocular Gene Therapy: From Fantasy to Foreseeable Reality

Zack, D. J. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110043019 · Cited by 19 · see citing works

Genetics and Asthma

Cookson, W. O. C. M. (1998) · Elsevier eBooks · doi:10.1016/b978-012473340-4/50005-9

Limits of resolution of genetic linkage studies: implications for the positional cloning of human disease genes.

Boehnke, M. (1994) · PubMed · Cited by 118 · see citing works

Genetic and Physical Mapping of the Ataxia-telangiectasia Locus on Chromosome 11q22–q23

McConville, C. M., Byrd, P. J., Ambrose, H. J., et al. (1994) · International Journal of Radiation Biology · doi:10.1080/09553009414551851 · Cited by 17 · see citing works

Physical and Genetic Mapping at the ATA/ATC Locus on Chromosome 11q22-23

Rotman, G., Savitski, K., Vanagaite, L., et al. (1994) · International Journal of Radiation Biology · doi:10.1080/09553009414551871 · Cited by 4 · see citing works

Potential applications of map-based cloning to plant pathology

Young, N. D. (1990) · Physiological and Molecular Plant Pathology · doi:10.1016/0885-5765(90)90001-e · Cited by 35 · see citing works