Annual Reviews - Error Congenital Xlinked incomplete achromatopsia evidence for slow progression, Molecular genetics of inherited variation in human color vision. http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genet.33.1.89
Extractions: An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Annual Reviews Online uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Annual Reviews cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Annual Reviews cookie to use the system. What Gets Stored in a Cookie? Annual Reviews Online only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
Genetics Foundation for Genetic Education and Counseling Genetic education for Home Page of The achromatopsia Network Information, Resources, Support, and Links. http://members.tripod.com/~pex/genetics.html
Extractions: Search: Lycos Tripod Dukes of Hazzard Share This Page Report Abuse Edit your Site ... Next PARENTS EXCHANGE Genetics LARGE TEXT BOX Tool to enlarge text. Select a button to change the background color on this page. Wilson Disease Information for patients and caregivers. National Alopecia Areata Foundation Provides information about alopecia areata. Support Groups throughout the US. The National Neurofibromatosis Foundation (NNFF) Information for people with NF, and links to other sites. About Celiac Disease Information and Fact Sheets (National Institute of Diabetes and Digestive and Kidney Disorders). National Organization for Albinism and Hypopigmentation Information for people with albinism, their families and those that work with them. Foundation for Genetic Education and Counseling Genetic education for the general public and for health-care professionals. Albinism in Popular Culture The mythology of albinism. Home Page of The Achromatopsia Network Information, Resources, Support, and Links.
CVNet: CVNet - Postdoc; Genetics Of Photoreceptors; Tuebingen Xchromsome-linked colourblindness, achromatopsia). Recent publicationsinclude Nature genetics (1998, 19, 257-259) and Journal of Neuroscience http://www.visionscience.com/mail/cvnet/1999/0127.html
Extractions: 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) ìGenotyping and Phenotyping of Human Cone Photoreceptorsî within a DFG Special Research Project (SFB 430) ìCellular mechanisms of sensory processes and neuronal interactionî. 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 T¸bingen and in Great Britain, The Netherlands and the United States.
Blind World - Disease-specific Organizations. Provides information about achromatopsia and about the resources that are Funds research on the molecular genetics of glaucoma and on optic nerve http://www.home.earthlink.net/~blindworld/LINKS/disease.htm
OMIM Entry 303700 The frequency of achromatopsia is said to be approximately 1 in 100000 persons . R.; Fishman, G. Molecular genetics of human blue conemonochromacy. http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?303700
Genetics: Human, Medical, And Clinical - Ãåíåòèêà ÷åëîâåêà Variant Phenotypes of Incomplete achromatopsia in Two Cousins with GNAT2 Gene New insights in the genetics of isolated hypogonadotropic hypogonadism. http://genetics.rusmedserv.com/arc/?srch=none&msg=2004-11-25
Genetics: Human, Medical, And Clinical - Ãåíåòèêà ÷åëîâåêà Genetic Variation in White Matter Hyperintensity Volume in the Framingham achromatopsia GeneReviews Urea Cycle Disorders Overview - GeneReviews http://genetics.rusmedserv.com/arc/?srch=none&msg=2004-06-28
News Jjuly2000 RO achromatopsia, while typically rare, is common among the population of the Pingelap His results are published in the July issue of Nature genetics. http://www.revoptom.com/archive/DEPT/ro0700news1.htm
Extractions: While the high rollers pored over the craps tables at the casino, the AOA House of Delegates said no dice to the American Board of Optometric Practice (ABOP). The decision came at the AOAs 103rd annual Congress last month in Las Vegas. While technically ABOP remains on the books, the delegates voted to stop implementation of the board certification process and provide no new funding for ABOP. And former AOA president John A. McCall Jr., O.D., resigned as president and a member of ABOP. The delegates did vote to have the AOA host a summit of national optometric organizations to discuss the need for board certification, but thats not a given, either. Many of the invited organizations spoke against ABOP. Some said they would commit to sending representatives to the summit, though. The National Board of Examiners in Optometry, which opposed ABOP, will attend, says NBEO president Donald R. Gordon, O.D. So will the Association of Regulatory Boards of Optometry, says James Vrac, ARBO executive director.
Cone-rod Dystrophy, X-linked, 1 achromatopsia, incomplete, Xlinked. Blue cone monochromatism Human Moleculargenetics Human Molecular genetics Human Molecular genetics http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=800
Profile orthologous to the human achromatopsia locus ACHM3. Human Molecular genetics . Ostrander EA, Stanford JL,genetics of prostate cancer too many loci, http://myprofile.cos.com/ostrander1
Extractions: powered by COS Expertise Fred Hutchinson Cancer Research Center Clinical Research Division Member Appointed: 2000 University of Washington School of Medicine Genome Sciences Affiliate Professor Appointed: 2002 University of Washington College of Arts and Sciences Zoology Affiliate Professor Appointed: 2002 Fred Hutchinson Cancer Research Center Human Biology Division Member Appointed: 2000 Fred Hutchinson Cancer Research Center 1100 Fairview Avenue N., D4-100 P.O. Box 19024 Seattle, Washington 98109-1024 United States Phone: (206) 667-6979 Fax: (206) 667-6396 eostrand@fhcrc.org Ph.D., Oregon Health Sciences University, Microbiology and Immunology, 1987. Dr. Elaine Ostrander's laboratory is interested in mapping and characterizing genes responsible for inherited disease in both dogs and humans. We are using three approaches. First, we are developing a canine genome map, and have used that map to identify genes which predispose naturally occurring populations of dogs to inherited disease. Second, we are screening two large cohorts of women with breast cancer to determine the distribution and frequency of mutations in the BRCA1 and BRC2 genes. Third, we have undertaken a genome-wide scan of high risk prostate cancer families to identify prostate cancer predisposition loci. Our recent efforts in mammalian genomics have focused on the development of the canine map. We constructed the first meiotic linkage map of the dog, and most recently have worked on the development of a high density canine radiation hybrid map, producing a 1500 marker radiation hybrid map in October 2001. Together with collaborators we have unraveled the evolutionary relationship between the canine and human genomes and developed an 1800 marker integrated cytogenetic, meiotic linkage, and radiation hybrid map that aligns the canine and human genomes. We are currently working towards completion of a 3400 marker map.
GENETICS THE NATIONAL FILE OF GENETIC PRINTS MEASERREMENTS OF IMPLAMENTATION. Rougé CL,Paysant F, CENTRAL achromatopsia AFTER WHIPLASH INJURY. Grimaldi L http://www.usc.es/imlus/doc/oral.htm
Extractions: Authors are requested to contact the slide check-in centre at least 15 min before presentation. Facilities for double projection, overhead projections and power point presentations will be provided. The Congress will be held in the Faculty of Medicine (c/San Francisco s/n) Santiago de Compostela. The registration desk will be open from Tuesday, 5th at 16.00. Prof. Angel Carracedo OG1 DAY: THURSDAY 7 th TIME: 9.45-9.55 MEGAPLEX ANALYSIS OFICED HUMAN REMAINS FROM THE BERREL SITE (200-300 BC, KAZAKHSTAN) Clisson I, Keyser C, Francfort H.P, Crubezy E, Ludes B Inl@iml-ulp.u-strasbg.gc OG2 DAY: THURSDAY 7 th TIME: 9.55-10.05 MtDNA MUTATIONS IN PEDIGREES FROM THE ELEVATED NATURAL RADIOACTIVITY AREAS OF KERALA Forster L, Brinkmann B Apimllar@uscmail.usc.es
Pina, Mol Vis 2004; 10:265-271. 1McGill Ocular genetics Laboratory, Montreal Children s Hospital Research Recently achromatopsia has been associated with mutations in this gene. http://www.molvis.org/molvis/v10/a34/
Extractions: McGill Ocular Genetics Laboratory, Montreal Children's Hospital Research Institute, McGill University, Montreal, Canada; Department of Orthodontics, Craniofacial Genetics, University Clinic of Regensburg, Germany Correspondence to: Dr. Robert Koenekoop, Ophthalmology, Montreal Children's Hospital, 2300 Tupper, Montreal, PQ, Canada, H3H 1P3; Phone: (514) 412-4400, ext. 22891; FAX: (514) 412-4443; email: robert.koenekoop@muhc.mcgill.ca Abstract Purpose: ) has been cloned and characterized. Recently achromatopsia has been associated with mutations in this gene. Cone and cone-rod dystrophies are a genetically heterogeneous group of photoreceptor diseases, in which mutations of a single gene may cause a variety of phenotypes. In this study we tested the hypothesis that mutations in cause cone-rod degeneration (CRD). Methods: PCR-SSCP and heteroduplex analysis combined with automated sequencing was used for mutation detection in in 13 independent pedigrees with CRD. We used co-segregation analysis to establish or reject causation, when possible. Molecular computer modeling was utilized to examine the possible consequences of mutations onto GNAT2 protein structure. Results: We found a novel 3 base-pair deletion, predicted to cause the loss of a highly conserved lysine at position 270 (K270del) in a French-Canadian CRD pedigree. We detected this deletion in a CRD proband, but also in his unaffected son, the proband's unaffected father and the proband's unaffected brother. However, we did not find this defect in 12 other CRD pedigrees, nor in 100 normal, culturally matched chromosomes. According to literature and our molecular computer modeling, the K270 plays an important role in securing the guanine ring in the nucleotide binding cleft of the molecule and in creating a salt bridge between the helical and GTPase domains of GNAT2. However, the K270del in GNAT2 does not appear to have extensive consequences to the structure and the function of the GNAT2. Apparently, there is a compensatory effect of lysine (K-271), which forms a hydrogen bond with the N1 ring nitrogen substituting for the loss of the lysine at position 270.
Extractions: This 160-page, spiral bound book, first published in 1998 and revised in 2004, presents a substantial amount of helpful and interesting information pertaining to achromatopsia. This is a very useful book not only for individuals and families who are affected by this rare vision disorder but also for vision care professionals, special education teachers, counselors, and other professionals who work with the visually impaired. The information that is included in this book was gathered in various ways, including input from numerous individuals affected by achromaotpsia, library research, and consultations with specialists in different fields. The author, Frances Futterman, has complete achromatopsia. Following are titles from the Table of Contents page of the current edition of Understanding and Coping with Achromatopsia: What is achromatopsia? What is it like to have achromatopsia? Comparing achromatopsia with other vision disorders Individual differences Vision and coping strategies of a complete achromat Inheritance factors The genetics of rod monochromacy The genetics of blue cone monochromacy Achromats who see color Getting diagnosed Achromatopsia in print About being colorblind Adapted lifestyles and adapted environments Orientation and mobility Accommodations in the workplace and elsewhere Vocational choices for persons with achromatopsia Social and psychological aspects of achromatopsia Using adaptive devices Options for magnification
Pingelap: Island Of The Colorblind achromatopsia, as it appears on the island of Pingelap, differs from the above to ensure that genetic mutations such as congenital achromatopsia are http://serendip.brynmawr.edu/biology/b103/f01/web3/wise.html
Extractions: This paper reflects the research and thoughts of a student at the time the paper was written for a course at Bryn Mawr College. Like other materials on Serendip , it is not intended to be "authoritative" but rather to help others further develop their own explorations. Web links were active as of the time the paper was posted but are not updated Contribute Thoughts Search Serendip for Other Papers Serendip Home Page Biology 103 ... On Serendip Pohnpei Landscape. Photo (c) FSM Visitors Board. Envision a tropical paradise, not unlike the island scene pictured above, complete with breathtaking scenery that includes crystal blue waters and luscious plant-life. Now imagine that you cannot see any of these things in color. This is the situation that between 5% and 10% of the native population of Pingelap Atoll, part of the Micronesian State of Pohnpei, find themselves in Supposedly, a freak typhoon-like storm ravaged the island in the late eighteenth century and killed a number of the island's inhabitants. Approximately 20 people survived to replenish the isolated island's population. Roughly four generations after the typhoon, the citizens of Pingelap began exhibiting symptoms of a rare recessive disorder known as Achromatopsia. Achromatopsia is characterized by extreme light sensitivity, poor vision, and complete inability to distinguish colors . This anomaly is the focus of Oliver Sacks' new book The Island of the Colorblind and its publication has succeeded in raising public awareness about the rare hereditary disease of Achromatopsia. Of the roughly the 3000 people living in Pingelap today, 5% to 10% of them are affected by the disorder and about 30% are carriers
The Vision Of Typhoon Lengkieki - Nature Medicine recessive disorder achromatopsia, or total colorblindness, and genetic of CNGA3 and CNGB3 explains the genetic heterogeneity of achromatopsia, http://www.nature.com/nm/journal/v6/n7/full/nm0700_746.html
Extractions: val-sheffield@uiowa.edu Around 1775, Typhoon Lengkieki decimated the population in the Micronesian Pingelap Atoll, leaving only a handful of survivors to repopulate the islands. Their ancestors have a high incidence of the autosomal recessive disorder achromatopsia, or total colorblindness, and genetic analysis of the Pingelapese has revealed the mutation responsible. One of the islands in the Pingelap Atoll Anita Karl NEARLY A CENTURY ago, Sir Archibald Garrod observed that many patients with autosomal recessive disease were the offspring of consanguineous matings . The genetic explanation for this is that the affected individuals receive a mutant allele that originates from a common ancestor and is inherited through each parent, hence affected individuals are homozygous for the mutation. Because most individuals probably carry some deleterious recessive alleles, consanguinity and the resultant homozygosity are generally undesirable. Therefore, populations that arise from a small number of founding individuals and remain isolated have a high incidence of homozygosity for disease alleles passed on by the original founders. Nearly 50 years after Garrod's observation and long before the discovery of DNA polymorphic markers, it was suggested that offspring of consanguineous unions would be homozygous for genetic markers neighboring the disease gene
Entrez PubMed achromatopsia in Pingelap Islanders. Study of a genetic isolate. Carr RE, MortonNE, Siegel IM. MeSH Terms Adolescent Adult Child Color Perception Tests http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=5
Human Molecular Genetics: May 1997 (Volume 6, No 5) Human Molecular genetics May 1997 (Volume 6, No 5). May 01, 1997. virtual libraryin human genetics and molecular biology. Executive Editors http://hum-molgen.org/journals/HMG/0034.html
*605080 CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3; CNGB3 (2000) found that the genetic basis of achromatopsia3, or Pingelapeseachromatopsia (262300), at 8q21-q22 is a recessive point mutation in CNGB3 that http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:605080] -e
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