41. Health Risk Achromatopsia Medical Service Itching Kidney Medical Research Gene P fatal skin conditions endocrinology see endocrine diseases fitness free plan centerlyme fitness unhealthy holistic health education genetics mental health http://www.atozhealth.us/hemodialysis-see-dialysis-department-of-health_80010.ht

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42. HUM GEN REPORTS Alzheimer s disease genetics, Garvin, Cheryl, Wesley, Dawn, Achondroplasia,Maxwell, Kelly (11/30), achromatopsia, Alpha1 Antitrypsin Deficiency, http://a-s.clayton.edu/hampikian/1901H/REPORTS1999/_GeneticDiseaseList.html

GENETICS REPORTS DUE NOV. 22nd [Final Report Form] [List] Final Report Format Use a size 12 font, number your pages at the bottom. THIS IS A STUDENT REPORT AND MAY CONTAIN INACCURACIES. IF YOU WISH TO QUOTE FROM IT YOU MUST GET THE WRITTEN PERMISSION OF DR. GREG HAMPIKIAN greghampikian@mail.clayton.edu I. Disease Name, by Your Name II. Chromosomal Location III. Type of inheritance (for example, sex-linked, autosomal dominant, mitochondrial...) IV. Incidence Note any special distributions (racial, sexual, geographical etc.) V. Symptoms. Make sure that you state the most common symptoms first. Whenever possible indicate in what % of patients each syndrom is found. VI. Metabolic causes of the symptoms VII. Treatments VIII. Latest research Summarize at least two new studies on your disease. The best way to get articles about your disease is through "Medline" which is available from the Galileo databases. (Copy the abstarcts for section XII.) IX. A ten question quiz with answers at the bottom. X. Bibliography

43. Colour-blindness - Encyclopedia Article About Colour-blindness. Free Access, No or classical genetics, molecular genetics, evolutionary biology and population genetics. andthe rarest being complete color blindess (achromatopsia Maskun is http://encyclopedia.thefreedictionary.com/Colour-blindness

Dictionaries: General Computing Medical Legal Encyclopedia Colour-blindness Word: Word Starts with Ends with Definition Color blindness is the inability to perceive differences between some or all colors For alternate meanings, see color (disambiguation). Color (American English) or colour (most other variants of English, including British English, New Zealand English and Australian English) is a sensation caused by light as it interacts with the eye, brain, and our experience. The perception of color is also greatly influenced by nearby colors in the visual scene. The term color is also used for the property of objects that gives rise to these sensations. Click the link for more information. that other people can distinguish. It is most often of genetic The word " gene " is shared by many disciplines, including whole organism-based or classical genetics, molecular genetics, evolutionary biology and population genetics. It has multiple uses within each of these contexts, but in the primary sense, genes are material things that parents pass to offspring during reproduction; these things encode information essential for the construction and regulation of polypeptides, proteins and other molecules essential for the growth and functioning of the organism. This sense, which is common to all of the above disciplines, is also the original historical meaning of gene. Click the link for more information.

44. Clinical Features Of Achromatopsia In Swedish Patients With Defined Genotypes Ophthalmic genetics 2002, Vol.23, No.2, pp. 109120, 1381-6810/02/2302-109$16.00© Swets Zeitlinger. Research report. Clinical features of achromatopsia in http://www.szp.swets.nl/szp/journals/og232109.htm

Ophthalmic Genetics 2002, Vol.23, No.2, pp. 109-120 Research report Clinical features of achromatopsia in Swedish patients with defined genotypes Louise Eksandh , Susanne Kohl and Bernd Wissinger University Hospital, Department of Ophthalmology, Lund, Sweden University Eye Hospital, Molekulargenetisches Labor, Tuebingen, Germany Keywords: Achromatopsia , rod monochromacy , blue-cone monochromacy , full-field ERG , CNGA , CNGB3 , phenotype .

45. Hum. Mol. Genet. -- Arbour Et Al. 6 (5): 689 Human Molecular genetics, Pages 689694, Homozygosity mapping of achromatopsia tochromosome 2 using DNA pooling Introduction Results Exclusion of chromosome 14 http://hmg.oupjournals.org/cgi/content/full/6/5/689

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Abstract of this Article PDF Version of this Article Email this article to a friend Similar articles found in: Hum. Mol. Genet. Online PubMed PubMed Citation This Article has been cited by: other online articles Search PubMed for articles by: Arbour, N. C. Sheffield, V. C. Alert me when: new articles cite this article Download to Citation Manager Human Molecular Genetics Pages Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling Introduction Results Exclusion of chromosome 14 Linkage to chromosome 2 ... References Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling Nancy C. Arbour Joel Zlotogora Robert G. Knowlton Saul Merin Ada Rosenmann Adam B. Kanis Tatiana Rokhlina Edwin M. Stone and Val C. Sheffield Department of Pediatrics and Department of Ophthalmology, University of Iowa, Iowa City , IA 52242, USA Department of Human Genetics and Department of Ophthalmology, Hadassah Medical Center, Jerusalem Israel and Thomas Jefferson University

46. Hum. Mol. Genet. -- Search Result Advance Access published on August 27, 2003 Human Molecular genetics 2003 12 establishcone degeneration as orthologous to the human achromatopsia locus ACHM3. http://hmg.oupjournals.org/cgi/search?qbe=hmg;ddg348&journalcode=hmg&minscore=50

47. HUM-MOLGEN Archive: LITE: Human Molecular Genetics 06:05 (fwd) Simply go to the Human Molecular genetics home page at http//www.oup Rokhlina,EM Stone and VC Sheffield Homozygosity mapping of achromatopsia to chromosome http://www.hum-molgen.de/mail-archive/1997-Mar/msg00010.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Bergen (ioi): LITE: Human Molecular Genetics 06:05 (fwd) archive of HUM-MOLGEN mails Author Prev Author Next Thread Prev ... Topic Index To: HUM-MOLGEN@NIC.SURFNET.NL Subject : LITE: Human Molecular Genetics 06:05 (fwd) From A.A.BERGEN@AMC.UVA.NL Date : Tue, 25 Mar 1997 09:42:57 +0100 Human Molecular Genetics Issue 06:05, May 1997 Oxford University Press ========================================== Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA ========================================== CONTENTS ========================================== NOTES: 1. Tables of contents for Human Molecular Genetics from May 1995 to the latest issue can be found on the HUM-MOLGEN web site at:- http://www.informatik.uni-rostock.de/HUM-MOLGEN/journals/HMG/ 2. Abstracts for the papers listed below will shortly be available at the Oxford University Press World Wide Web site. Simply go to the Human Molecular Genetics home page at:- http://www.oup.co.uk/hmg/

48. Human Molecular Genetics: May 1997 (Volume 6, No 5) Rokhlina, EM Stone and VC Sheffield Homozygosity mapping of achromatopsia to chromosome HumanMolecular genetics is a monthly journal of original peerreviewed http://www.hum-molgen.de/journals/HMG/0034.html

home genetic news bioinformatics biotechnology ... Search - prev / next Human Molecular Genetics: May 1997 (Volume 6, No 5) May 01, 1997 virtual library in human genetics and molecular biology Executive Editors:- K E Davies, Oxford, UK Huntington F Willard, Cleveland, OH, USA Oxford University Press Date of publishing: May, 1997 ISSN 0261 - 4189SSN 1964-6906 ARTICLE S K Heath, S Carne, C Hoyle, K J Johnson and D J Wells Characterisation of expression of mDMAHP, a homeodomain-encoding gene at the murine DM locus P. 651 REPORTS R Morell, R A Spritz, L Ho, J Pierpont, W Guo, T B Friedman and J H Asher Jr Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA) P. 659 M Litt, R Carrero-Valenzuela, D M LaMorticella, D W Schultz, T N Mitchell, P Kramer and I H Maumenee Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta crystallin gene CRYBB2 P. 665 L Pulkkinen, V E Kimonis, Y Xu, E N Spanou, W H I McLean and J Uitto Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia P. 669

49. Atlas Of Genetics And Cytogenetics In Oncology And Haematology Houston Mercy Hospital, Watertown, NY and Department of Medical genetics, Universityof Complete congenital achromatopsia (rod monochr.), 14 mat, Pentao et al. http://www.infobiogen.fr/services/chromcancer/IntroItems/UnidisomyEnglID30030EL.

Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Tumors ... Teaching This is an ambitious title to deal with. Of course, UPD refers to the accidental presence of a chromosome pair or a chomosome segment derived from only one parent in a diploid individual. In fact, the information on this subject has grown so large that Pub Med, the webb-site of the US National Library of Medecine, by now lists over 550 original titles not to mention the so-call related articles. In the bulk of this material. I particulary like to stress the elegant contributions from Prs Lidia Larizza, Orsette Zuffardi and their colleagues on the role of parental chromosome 15 inversions in subsequent segmental deletions of that chromosome and their study of UBE3A mutations in AS. I also want to mention the wealth of information and observations that we owe to Pr A Schinzel and his group and to Dr Dietrich Kotzot in this area. Lidia, Albert, I thank you whole-heartedly, as well as the Organizing Committee and Dr Konstantin Miller for inviting me to address the Audience of this select ECA Meeting in Bologna. Thank you, indeed for your hospitality. Slide 1 I thus started in the field at this most exciting period wich I call the Golden Years. Within two of these years, 1959 and 1960, the three major autosomal trisomies, G, E, and D, namely 21, 18 and 13 turned up along with three of the four more common sex chromosome anomalies. XXY, XXX, XO (the XYY would appear later), plus the first example of human chromosome mosaicism.

50. Public Health Premature Birth Diseases Achromatopsia Cream Fact Ice Medicaid Hea first aid health care provider alcohol issue general corporation disease wellnessdonuts dunkin fact pelican lake walker lake alzheimers genetics public health http://www.health-condition.us/center-emilia-romagna-hhs_71910.html

have genetic parathyroid conditions esrd-see-end-stage-renal-disease-healthy fitness-cream-fact-ice communicable-lesson-non-plan-health-risk fact-food-myth-first-aid ... health center montrose

51. CVNet: CVNet - Postdoc; Genetics Of Photoreceptors; Tuebingen and aquired retinal disorders (eg, Xchromsome-linked colourblindness, achromatopsia). Recentpublications include Nature genetics (1998, 19, 257-259) and http://www.visionscience.com/mail/cvnet/1999/0127.html

CVNet - postdoc; genetics of photoreceptors; Tuebingen Color and Vision Network ( cvnet@lawton.ewind.com Sun, 11 Apr 1999 22:21:05 -0700 Messages sorted by: [ date ] [ thread ] [ subject ] [ author ] Next message: Color and Vision Network: "CVNet - postdoc; structure from motion; Rutgers" Previous message: Color and Vision Network: "CVNet - research associate; neurophysiology; Schepens ERI" To: hchan@well.sf.ca.us Subject: Postdoctoral position in Visual Science. Dear Hoover Chan, please post this message over cvnet. Thank you. Postdoctoral position in Visual Science. A postdoctoral position (c. DM 70,000.00; BAT IIA) is available from 1 April 1999 in the Department of Experimental Ophthalmology. The position is within a Project (A6) “Genotyping and Phenotyping of Human Cone Photoreceptors” within a DFG Special Research Project (SFB 430) “Cellular mechanisms of sensory processes and neuronal interaction”. The group investigates the human visual system with psychophysical methods. The emphasis is on the biophysical properties of the photoreceptors. In order to correlate our results with photoreceptoral and neuronal processes, we collaborate closely with molecular biological (Dr Bernd Wissinger), electrophysiological (PD Dr Jan Kremers) and psychophysical (PD Dr Karl Gegenfurtner) research groups in Tübingen and in Great Britain, The Netherlands and the United States. In addition to our investigations of basic visual processes, we are interested in the diagnosis and characterization of several inherited and aquired retinal disorders (e.g., X-chromsome-linked colourblindness, achromatopsia).

52. Naxa Directory - Health > Conditions & Diseases > > Genetic_Disorders Categories. Achondroplasia (0). achromatopsia (0). GeneTests Home Page GeneticAlliance, Inc. - The definitive resource for reliable genetics information. http://www.naxa.com/Health/Conditions_and_Diseases/Genetic_Disorders/

Your Search Advanced Search About These Results Genetic Disorders Directory Health Genetic Disorders Categories Achondroplasia Achromatopsia Acid Maltase Deficiency Adrenoleukodystrophy ... Wilson's Disease Site Listings Ask NOAH About: Genetic Disorders bannayan-zonana.html Blazing a Genetic Trail Cancer Genome Anatomy Project (CGAP) ... Center for Inherited Disorders of Energy Metabolism (CIDEM) - ... - The CIDEM Laboratories are a group of inter-disciplinary, clinical diagnostic laboratories which focus on disorders of mitochondrial function that interfere with pyruvate metabolism, fatty acid ... Children's Hospital of Philadelphia: Congenital Hyperinsulinism ... Chromosome 22 Central - A support group for families who have children affected by disorders involving chromosome 22. Chromosome 9P- Network home page Developmental Genome Anatomy Project Dubowitz Syndrome Information and Parent Support GeneCards Homepage ... Genes and disease - Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), a division of the National Library of Medicine (NLM) at ... GeneTests Home Page Genetic Alliance, Inc.

53. MMGStaff Profiles CA, P. Gissen, C. Sergi, (2003) Molecular pathology and genetics of congenital Mappingof a novel locus for achromatopsia (ACHM4) to 1p and identification of http://medweb4.bham.ac.uk/rch/DivInfo/MMGProf.html

School of Medicine University Fast Find Site Index Schools / Departments Telephone Directory Email Directory Useful Contacts Frequently Asked Questions Directions / Maps Acronym Directory Vacancies HOMEPAGE Staff Staff Staff Prof. E.R. Maher Professor of Medical Genetics Tel. 0121 627 4434 Fax. 0121 627 2618 emaher@hgmp.mrc.ac.uk Norton Court Birmingham Women's Hospital Birmingham Research Interests Clinical Interests Recent Publications Dr Farida Latif Tel. 0121 627 4760 Fax. 0121627 2618 flatif@hgmp.mrc.ac.uk Norton Court Birmingham Women's Hospital Birmingham Research Interests Recent Publications Dr Tessa Webb Tel. 0121 627 2638 Fax. 0121 627 2618 t.webb@bham.ac.uk Norton Court Birmingham Women's Hospital Birmingham Research Interests Recent Publications Dr. Colin Johnson

54. Blind World - Disease-specific Organizations. Seeks to promote awareness and education about achromatopsia. Funds researchon the molecular genetics of glaucoma and on optic nerve regeneration. http://www.home.earthlink.net/~blindworld/LINKS/disease.htm

Blind World Disease-specific Organizations. (The) Achromatopsia Network. P.O. Box 214, Berkeley, CA 94701-0214. E-mail: Editor@achromat.org URL: http://www.achromat.org AMD Alliance International. 1314 Bedford Avenue, Suite 113, Baltimore, Maryland 21208. URL: http://www.amdalliance.org/ American Autoimmune Related Diseases Association, Inc. (AARDA). 22100 Gratiot Avenue, East Detroit, MI 48021. (800)598-4668 (Literature Requests). URL: http://www.aarda.org/ P.O. Box 15247, Chattanooga, TN 37415-0240. Toll-free: 1-800-723-4238. URL: http://www.behcets.com American Health Assistance Foundation. 15825 Shady Grove Road, Suite 140, Rockville, MD 20850. (Phone: 301) 948-3244. Toll-free: 1-800-437-2423. URL: http://www.ahaf.org Association for Macular Diseases. 210 East 64th Street, New York, NY 10021. Phone: (212) 605-3719. URL: http://www.macula.org/ Benign Essential Blepharospasm Research Foundation. P.O. Box 12468, Beaumont, TX 77726-2468. Phone: (409) 832-0788.

55. Suzanne M. Leal, Ph.D. prion disease, epilepsy, cystinosis, Parkinson s disease, schizophrenia and achromatopsia. Iteach courses in statistical genetics\genetic epidemiology http://imgen.bcm.tmc.edu/molgen/facultyaz/leal.html

Open Frame in New Window Suzanne M. Leal, Ph.D. Associate Professor , Department of Molecular and Human Genetics B.S., Fordham University, New York, 1981 M.S., Columbia University, New York, 1989 Ph.D., Columbia University, New York, 1994 Postdoc, University of Tuebingen, Tübingen, Germany, 1996 Last modified: July 2003 Research Interests Selected Publications Contact Information Research Interests: My interest in statistical genetics/genetic epidemiology lies in the mapping of complex and Mendelian traits and understanding the interactions between genes and between genes and the environment. In addition to applied work of localizing disease loci through statistical genetic methods, I am interested in methodological research. On the applied side, I have been involved in the study of a variety of disease phenotypes including: retinitis pigmentosa, lebers congenital amaurosis, prion disease, epilepsy, cystinosis, Parkinson's disease, schizophrenia and achromatopsia. I am currently working on several mapping projects that include: migraine, obesity, drug addiction and non-syndromic hearing loss. A variety of statistical genetic methods are implemented to analyze the data including parametric and non-parametric linkage analysis and statistical methods for association studies.

56. The FHCRC Dog Genome Project: References GM, Ostrander EA (2002) Canine CNGB3 mutations establish cone degeneration as orthologousto the human achromatopsia locus ACHM3. Human Molecular genetics 11(16 http://www.fhcrc.org/science/dog_genome/references.html

@import "/wrapper/fhcrc.css"; HOME Science Dog Genome Project Science And Research ... Protocols References Links Info for Owners Canine Genome Research: References M ost of this list is comprised of papers that include research by the FHCRC Dog Project. We aim to include other important Canine mapping and genomics papers, so if there's a reference you don't see that you think should be here, please let us know at cgp@fhcrc.org References are grouped into sections below. Click the title below to proceed to the section. Canine Genetic Structure and Phylogeny Canine Linkage Mapping Canine Radiation Hybrid Mapping Mapping Software ... Review Articles Canine Genetic Structure and Phylogeny Parker H.G., Kim L.V., Sutter N.B., Carlson S., Lorentzen T.D., Malek T.B., Johnson G.J., DeFrance H.B., Ostrander E.A., and Kruglyak L. (2004) Genetic Structure of the Purebred Domestic Dog. Science , Vol , Issue , 1160-1164 , 21 May 2004 Canine Linkage Mapping Gordon D., Corwin M.B., Mellersh C.S., Ostrander E.A. and Ott J. (2003) Establishing appropriate genome-wide significance levels for canine linkage analyses. Journal of Heredity Breen M., Jouquand S., Renier C., Mellersh C.S., Hitte C., Holmes N.G., Cheron A., Suter N., Vignaux F., Bristow A.E., Priat C., McCann E., Andre C., Boundy S., Gitsham P., Thomas R., Bridge W.L., Spriggs H.F., Ryder E.J., Curson A., Sampson J., Ostrander E.A., Binns M.M., and Galibert F. (2001). Chromosome-Specific Single-Locus FISH Probes Allow Anchorage of an 1800-Marker Integrated Radiation-Hybrid/Linkage Map of the Domestic Dog Genome to All Chromosomes.

57. Eye Disorders - 404 Of The Best Sites Selected By Humans Medical genetics X-linked Recessive Color_Blindness achromatopsia -Incomplete andComplete achromatopsia -Low Vision Sunglasses -The achromatopsia Group -The http://www.cbel.com/eye_disorders/

Pages A-G 2 Columns Pages H-O Order by Alphabet Ordered by Theme Order by Popularity 3 Columns Pages P-Z 4 Columns Eye Disorders CBEL Health ( 404 links, last update: 12 April 2004 ) * = new links [Find on this page] A Focus on Eye Disorders All About Vision - Guide to Eye Conditions Care For Your Eyes ... Visual Snow or Static Forum Amblyopia About Amblyopia. What is Lazy Eye? Amblyopia (Lazy Eye) Amblyopia: A Mothers View Amblyopia: Eye Drops Could Be as Effective a... ... National Eye Institute - Amblyopia Resource ... Aniridia Aniridia Network Blindness A Blind Our Motto AccessDome Artificial Vision - Homepage Blind BBS ... VisionConnection Blindness Braille Braille Authority of North America Braille Book Review Braille Bookstore Braille Bug ... Online Braille Tutorials Blindness Organizations AER Online American Council of the Blind American Foundation for the Blind Associates for World Action in Rehabilitatio... ... Young Blind Citizens Blindness Personal_Pages Ellen Bomer - Survivor Lenny McHughs Home Page Cataract Angeles Vision Clinic - What is a Cataract? Cataract Surgery Cataract Surgery in Developing Countries Cataract Surgery Information from Eye Doctor... ... When Is a Disabled Employee Qualified? Color_Blindness Achromatopsia Incomplete and Complete Achromatopsia Low Vision Sunglasses The Achromatopsia Group The Achromatopsia Network ... CVS Doctors Conjunctivitis Angeles Vision Clinic - Conjunctivitis Conjunctivitis Conjunctivitis Guide EMedicine - Allergic Conjunctivitis ... What is Seasonal Allergic Conjunctivitis?

58. Genome Biology | Full Text | A Second Gene For Color Blindness cGMPgated channel are responsible for achromatopsia (ACHM3) linked to Subject areasNeurobiology, genetics, Medicine, Physiology, Cell biology Reported by http://genomebiology.com/2000/1/5/reports/0074

home comment reviews reports ... my journal Enter your e-mail address to receive regular updates from Genome Biology .reports meeting reports paper reports sort by date sort by subject ... Issue 5 Viewing options Abstract Full text Other links: E-mail to a friend Download references Post a comment Search PubMed For Talukder G Paper report A second gene for color blindness Analysis of families suffering from total color blindness has revealed one potential cause of the condition - mutations in a gene encoding a subunit of the retinal cone cGMP-gated ion channel. Mutations in the gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ) linked to chromosome 8q21. S Kohl, B Baumann, M Broghammer, H Jagle, P Sieving, U Kellner, R Spegal, M Anastasi, E Zrenner, LT Sharpe and B Wissinger Hum Mol Genet Read the abstract on PubMed Subject areas: Neurobiology, Genetics, Medicine, Physiology, Cell biology Reported by: Gargi Talukder The electronic version of this article is the complete one and can be found online at: http://genomebiology.com/2000/1/5/reports/0074

59. Egill Hansen (www.whonamedit.com) With Ingegerd Frøyshov Larsen and Kåre Berg. Clinical genetics, Copenhagen, 1978,13 190200. Clinical aspects of achromatopsia. Chapter 9, pages 316-334. http://www.whonamedit.com/doctor.cfm/1739.html

60. Current Research / Aktuelle Forschungsschwerpunkte We describe the mutations causal for complete achromatopsia in Kohlet al., (1998) Nature genetics, 19, 257259. Kjer Type Autosomal http://www.uak.medizin.uni-tuebingen.de/depii/groups/molgen/project.htm

Current Research / Aktuelle Forschungsschwerpunkte Animal Models. The introduction of defined modifications at a genomic level by gene targeting has become a widely used technique. Homologous recombination is used to generate mouse strains with such modifications. These genetically modified animals allow simple questions to be asked about elaborate and complex biological systems. The animal model takes two forms; the transgenic, where additional genetic material is introduced, and the 'knock-out', where the animal lacks a single gene product, or exhibits altered regulatory properties. The gene 'knock-out' mouse acts as a living laboratory for the analysis of mutant genes. The interaction of abnormal, mutant versions of proteins within the retinal cells can be studied. The mouse model permits a far greater degree of analysis than is possible with human subjects, for obvious ethical reasons. We are currently generating knock-out mice to model two retinal dystrophies; rod monochromasy ( a -subunit of the cone specific cGMP-gated cation channel; CNGA3) and hereditary vitamin A deficiency (retinol binding protein; RBP). Colour Vision/Colour Vision Defects.

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