최소 단어 이상 선택하여야 합니다.
최대 10 단어까지만 선택 가능합니다.
다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기Cell, v.91 no.4, 1997년, pp.543 - 553
Freund, Carol L (Program in Developmental Biology, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) , Gregory-Evans, Cheryl Y (Department of Molecular Genetics, Institute of Ophthalmology University College, London EC1V 9EL, United Kingdom) , Furukawa, Takahisa (Department of Genetics, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts 02115, USA) , Papaioannou, Myrto (Unit of Prenatal Diagnosis, Center for Thalassemia, Sevastoupoleos Street, Athens Gr-11526, Greece) , Looser, Jens (Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) , Ploder, Lynda (Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) , Bellingham, James (Department of Molecular Genetics, Institute of Ophthalmology University College, London EC1V 9EL, United Kingdom) , Ng, David (Program in Developmental Biology, The Research Institute, Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada) , Herbrick, Jo-Anne S (Department of Genetics, The Research Institute, Hospital for Sick Children, Toronto, Onta) , Duncan, Alessandra , Scherer, Stephen W , Tsui, Lap-Chee , Loutradis-Anagnostou, Aphrodite , Jacobson, Samuel G , Cepko, Constance L , Bhattacharya, Shomi S , McInnes, Roderick R
AbstractGenes associated with inherited retinal degeneration have been found to encode proteins required for phototransduction, metabolism, or structural support of photoreceptors. Here we show that mutations in a novel photoreceptor-specific homeodomain transcription factor gene (CRX) cause an auto...
Nat. Genet. Acampora 14 218 1996 10.1038/ng1096-218 Epilepsy and brain abnormalities in mice lacking the Otx1 gene
Nat. Genet. Allikmets 15 236 1997 10.1038/ng0397-236 A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
Science Allikmets in press 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
J. Mol. Biol. Altschul 215 403 1990 10.1016/S0022-2836(05)80360-2 Basic local alignment search tool
Invest. Ophthalmol. Vis. Sci. Anderson 17 117 1978 Mammalian cones
Nat. Genet. Ashworth 11 422 1995 10.1038/ng1295-422 An integrated metric physical map of human chromosome 19
Ausubel, F.M., Brent, R., Kingston, R.E., Moore, D.D., Seidman, J.G., Smith, J.A., Struhl, K., Albright, L.M., Coen, D.M., and Varki, A. (1997). Screening of recombinant DNA libraries. In Current Protocols in Molecular Biology, V.B. Chanda, ed. (New York: John Wiley and Sons). pp. 6.0.1-6.3.6.
Genomics Balciuniene 30 281 1995 10.1006/geno.1995.9876 A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13
Hum. Mol. Genet. Bascom 4 1895 1995 10.1093/hmg/4.10.1895 Mutation analysis of the ROM1 gene in retinitis pigmentosa
Proc. Natl. Acad. Sci. USA Berson 93 4526 1996 10.1073/pnas.93.10.4526 Retinitis pigmentosa
Am. J. Ophthalmol. Bird 119 543 1995 10.1016/S0002-9394(14)70212-0 Retinal photoreceptor dystrophies
Nat. Genet. Burmeister 12 376 1996 10.1038/ng0496-376 Ocular retardation mouse caused by Chx10 homeobox null allele
Development Cau 124 1611 1997 10.1242/dev.124.8.1611 Mash1 activates a cascade of bHLH regulators in olfactory neuron progenitors
Proc. Natl. Acad. Sci. USA Cepko 93 589 1996 10.1073/pnas.93.2.589 Cell fate determination in the vertebrate retina
Nature Chumakov S377 175 1995 A YAC contig map of the human genome
Am. J. Hum. Genet. Cottingham 53 252 1993 Faster sequential genetic linkage computations
Trends Biochem. Sci. Dingwall 16 478 1991 10.1016/0968-0004(91)90184-W Nuclear targeting sequences-a consensus?
Duboule 1994 Guidebook to the Homeobox Genes
Genomics Duncan 19 400 1994 10.1006/geno.1994.1084 Assignment of the gene for the cytochrome c1 subunit of the mitochondrial cytochrome bc1 complex to human chromosome 8q24.3
Nat. Genet. Evans 6 210 1994 10.1038/ng0294-210 Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion
Arch. Ophthalmol. Evans 113 195 1995 10.1001/archopht.1995.01100020079033 Chromosome 19q cone-rod retinal dystrophy
Anal. Biochem. Feinberg 132 6 1983 10.1016/0003-2697(83)90418-9 A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
Genes Dev. Finkelstein 4 1516 1990 10.1101/gad.4.9.1516 The orthodenticle gene encodes a novel homeodomain protein involved in the development of Drosophila nervous system and ocellar visual structures
10.1093/hmg/5.Supplement_1.1471 Freund, C., Horsford, D.J., and McInnes, R.R. (1996). Transcription factor genes and the developing eye: a genetic perspective. Hum. Mol. Genet. 5 (Spec. No.), 1471-1488.
Cell Frigerio 47 735 1986 10.1016/0092-8674(86)90516-7 Structure of the segmentation gene paired and the Drosophila PRD gene set as part of a gene network
Arch. Ophthalmol. Fulton 114 698 1996 10.1001/archopht.1996.01100130690009 Vision in Leber congenital amaurosis
Proc. Natl. Acad. Sci. USA Furukawa 94 3088 1997 10.1073/pnas.94.7.3088 rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina
Cell Furukawa 91 91 1997 10.1016/S0092-8674(00)80439-0 Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation
Hum. Mol. Genet. Gage 6 457 1997 10.1093/hmg/6.3.457 Pituitary homeobox 2, a novel member of the bicoid-related family of homeobox genes, is a potential regulator of anterior structure formation
Prog. Ret. Eye Res. Gal 16 51 1997 10.1016/S1350-9462(96)00021-3 Rhodopsin mutations in inherited retinal dystrophies and dysfunctions
Am. J. Hum. Genet. Gregory 55 1061 1994 Refinement of the cone-rod dystrophy locus on chromosome 19q
Science Hudson 270 1945 1995 10.1126/science.270.5244.1945 An STS-based map of the human genome
Nat. Genet. Humphries 15 216 1997 10.1038/ng0297-216 Retinopathy induced in mice by targeted disruption of the rhodopsin gene
Nat. Genet. Ioannou 6 84 1994 10.1038/ng0194-84 A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
Hum. Mol. Genet. Kelsell 6 597 1997 10.1093/hmg/6.4.597 Localization of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p
Cell Kissinger 63 579 1990 10.1016/0092-8674(90)90453-L Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution
Can. J. Ophthalmol. Klystra 28 79 1993 Cone-rod retinal dystrophy in a patient with neurofibromatosis type I
Biol. Chem. Hoppe Seyler Kunzler 376 201 1995 Pathological, physiological, and evolutionary aspects of short unstable DNA repeats in the human genome
Proc. Natl. Acad. Sci. USA Lathrop 81 3443 1984 10.1073/pnas.81.11.3443 Strategies for multipoint linkage analysis in humans
Cytogenet. Cell Genet. Lin 39 269 1985 10.1159/000132156 High resolution chromosomal localization of the B gene of the human B-globin gene complex by in situ hybridization
Neuron Liu 13 377 1994 10.1016/0896-6273(94)90354-9 Developmental expression of a novel murine homeobox gene (Chx10)
Nature Mathers 387 603 1997 10.1038/42475 The Rx homeobox gene is essential for vertebrate eye development
Genes Dev. Matsuo 9 2646 1995 10.1101/gad.9.21.2646 Mouse Otx2 functions in the formation and patterning of rostral head
Trends Genet. Moore 11 442 1995 10.1016/S0168-9525(00)89143-X Insight into the microphthalmia gene
Trends Neurosci. Oliver 20 415 1997 10.1016/S0166-2236(97)01082-5 Current views on eye development
J. Med. Genet. Papaioannou in press 1997 A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q
Nat. Genet. Perrault 14 461 1996 10.1038/ng1296-461 Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
Hum. Hered. Schaffer 44 225 1994 10.1159/000154222 Avoiding recomputation in linkage analysis
Scherer, S.W., and Tsui, L.-C. (1991). Cloning and analysis of large DNA molecules. In Advanced Techniques in Chromosome Research, K. Adolph, ed. (New York: Marcel Dekkar, Inc.), pp. 33-72.
Nat. Genet. Semina 14 392 1996 10.1038/ng1296-392 Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
EMBO J. Simeone 12 2735 1993 10.1002/j.1460-2075.1993.tb05935.x A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo
Arch. Ophthalmol. Szylyk 111 781 1993 10.1001/archopht.1993.01090060069025 Clinical subtypes of cone-rod dystrophy
Terwilliger 1994 Handbook of Human Genetic Linkage
Development Tessarollo 115 11 1992 10.1242/dev.115.1.11 C-ros
Neuron Tomita 16 723 1996 10.1016/S0896-6273(00)80093-8 Mammalian hairy and enhancer of split homolog 1 regulates differentiation of retinal neurons and is essential for eye morphogenesis
Genes Cells Tomita 1 765 1996 10.1111/j.1365-2443.1996.tb00016.x Mash1 promotes neuronal differentiation in the retina
Nat. Genet. Walter 7 22 1994 10.1038/ng0594-22 A method for constructing radiation hybrid maps of whole genomes
Am. J. Med. Genet. Warburg 39 288 1991 10.1002/ajmg.1320390309 Deletion mapping of a retinal cone-rod dystrophy
Cell Wilson 82 709 1995 10.1016/0092-8674(95)90468-9 High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA
Development Xu 124 219 1997 10.1242/dev.124.1.219 Mouse Eya homologs of the Drosophila eyes absent gene require Pax6 for expression in lens and nasal placode
Science Xue 261 1324 1993 10.1126/science.8103239 Cooperative interactions beween the Caenorhabditis elegans homeoproteins unc-86 and mec-3
Arch. Ophthalmol. Yagasaki 107 701 1989 10.1001/archopht.1989.01070010719034 Cone-rod dystrophy
Invest. Ophthalmol. Vis. Sci. Young 15 700 1976 Visual cells and the concept of renewal
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
저자가 APC(Article Processing Charge)를 지불한 논문에 한하여 자유로운 이용이 가능한, hybrid 저널에 출판된 논문
※ AI-Helper는 부적절한 답변을 할 수 있습니다.