Navigation Links
In retinal disease, sight may depend on second sites
Date:5/12/2009

ent and from their parents and looked for common changes in the RPGRIP1L gene, which already was known to be defective in some but not all ciliary diseases. Although the frequency of any given change in DNA sequence was rare, several changes appeared only in patients with ciliary disease and not in healthy people, while some changes appeared more frequently in patients than in healthy people. One particular change in the RPGRIP1L gene, called A229T, was seen frequently in DNA from patients who had lost some vision but was absent in DNA from patients who had not lost vision.

As individual changes in single genes are difficult to study in people, the team turned to fish to learn how the A229T change in the RPGRIP1L gene affects cells. Like humans, fish also have a gene very similar to RPGRIP1L. In addition, fish are transparent in their early stages of development, which makes it easier to see how individual changes in genes can affect cellular function, structure or development. When the researchers reduced the amount of RPGRIP1L in fish, the animals developed short and stunted body structures and abnormal tails. When normal RPGRIP1L was added back into these same fish, the fish developed more normal body lengths and tails. However, when RPGRIP1L with the A229T change was added back to the fish, they remained short and stunted. So the researchers concluded that the A229T change must prevent RPGRIP1L from working properly.

The team then investigated why the A229T change in RPGRIP1L might lead to retinal degeneration and blindness in people. To do this, they looked for other proteins that interact with the RPGRIP1L protein by fishing the protein out of eye cells and examining what was stuck to it. They found one protein that stuck to RPGRIP1L but did not stick to RPGRIP1L with the A229T change. This protein interaction must be important for retinal function, they concluded, and loss of this interaction may explain how the A229T change in the RPGRIP1L
'/>"/>

Contact: Audrey Huang
audrey@jhmi.edu
410-614-5105
Johns Hopkins Medical Institutions
Source:Eurekalert

Page: 1 2 3

Related medicine news :

1. Study reports success in treating a rare retinal disorder
2. Growth factor TGF-B helps maintain health of retinal blood vessels
3. Eye Cells Believed to Be Retinal Stem Cells Are Misidentified
4. Retinal Gene Is Linked to Childhood Blindness
5. Cell death from cytomegalovirus may bring new life to treatment of retinal disease
6. CA$2.4 million toward gene therapy for human degenerative retinal diseases
7. Anti-VEGF drugs for retinal diseases could have serious side effects, scientists caution
8. Anti-VEGF Drugs for Retinal Diseases Could Have Serious Side Effects, Scientists Caution
9. Painkiller May Prevent Diabetes-Related Retinal Damage
10. Severe retinal hemorrhaging is linked to severe motor vehicle crashes
11. MicroRNAs appear essential for retinal health
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/28/2014)... UT (PRWEB) August 28, 2014 CMMI (Center ... coordination and integration of care to address patient needs. What ... quality of care outcomes (with more provider accountability) and reduce ... all the people involved in the care of a patient ... figure out how to distribute it. If it sounds complicated, ...
(Date:8/28/2014)... August 28, 2014 GreenRushReview.com, a ... recently launched a “Video” section located at ... information on various cannabis companies in video format. ... an assortment of news clips, interviews, and other ... A portion of the videos can also be ...
(Date:8/28/2014)... August 28, 2014 Genetic testing ... throughout the world, with large reference laboratories as ... laboratories differ with regard to the genetic variants ... payers may struggle to find the most appropriate ... help clients sort through these differences, Hayes, Inc. ...
(Date:8/28/2014)... (PRWEB) August 28, 2014 On September ... interview Stephen Isaacs, the chairperson, president and CEO of ... Meet the Mesothelioma Experts live broadcast. The ... director and mesothelioma expert nurse practitioner, Mary Hesdorffer, ... will be Aduro BioTech’s experimental therapy for malignant pleural ...
(Date:8/28/2014)... The Foundation for Women’s Cancer ... by alerting women to the link between obesity and ... of endometrial cancer. , Endometrial cancer is the ... cancer. More than 52,600 will learn of a diagnosis ... with weight management challenges to know the early warning ...
Breaking Medicine News(10 mins):Health News:Med-Certification.com Expects Industry "Hiccups" with New Models for Patient Care and Reimbursement 2Health News:Emerging Cannabis Industry Website GreenRushReview.com Adds a Featured Video Section to Cover Marijuana Business Sector News 2Health News:Emerging Cannabis Industry Website GreenRushReview.com Adds a Featured Video Section to Cover Marijuana Business Sector News 3Health News:Hayes, Inc. Unveils Laboratory Comparison Tables for GTE Clients 2Health News:New Clinical Trial: Using the Listeria Virus to Fight Mesothelioma 2Health News:New Clinical Trial: Using the Listeria Virus to Fight Mesothelioma 3Health News:Foundation for Women's Cancer Alerts Women to Link Between Obesity and Endometrial Cancer 2
... LONDON, May 11 , - Health of the Nation ... - Britain is Overwhelmed, Overworked and Overweight, - ... The nation appears to be stuck in a ... save time and,money by cutting back on exercise and healthy foods in ...
... in Patient SatisfactionSOUTH BEND, Ind., May 11 In ... is proud to recognize all of its hospital partners ... care they provide."The doctors, nurses, and staff at our ... they deserve to be commended," said Rick Siegrist, Press ...
... man had underlying health problems, officials say , , SUNDAY, ... his 30s from Snohomish County, Wash., is the third person ... health officials said late Saturday. , In a Department of ... underlying heart condition, died last week with what appear to ...
... says outbreak continues, but infections still mild and recovery is ... The swine flu count in the United States now stands ... states, with 104 hospitalizations, federal health officials said Saturday. , ... find them," Dr. Anne Schuchat, interim deputy director for science ...
... when it comes to breast reconstruction surgery. Park Meadows Cosmetic ... guide to a variety of breast reconstruction options. , ... ... than a quarter million American women are diagnosed with breast cancer. ...
... Proponent Offers Special Membership Rate through June 30, 2009PLYMOUTH ... most important family holidays almost upon us, adult children ... Mom and/or Dad. Health Proponent, the consumer division ... company, has the solution: Why not give parents ...
Cached Medicine News:Health News:Stressed and Sedentary Lifestyles Increase as Recession Appears to Take its Toll on Britain's Health 2Health News:Stressed and Sedentary Lifestyles Increase as Recession Appears to Take its Toll on Britain's Health 3Health News:Stressed and Sedentary Lifestyles Increase as Recession Appears to Take its Toll on Britain's Health 4Health News:Press Ganey Supports National Hospital Week 2Health News:Press Ganey Supports National Hospital Week 3Health News:Third U.S. Swine Flu Death Reported 2Health News:Third U.S. Swine Flu Death Reported 3Health News:Third U.S. Swine Flu Death Reported 4Health News:Third U.S. Swine Flu Death Reported 5Health News:Third U.S. Swine Flu Death Reported 6Health News:Third U.S. Swine Flu Death Reported 7Health News:Third U.S. Swine Flu Death Reported 8Health News:Third U.S. Swine Flu Death Reported 9Health News:Third U.S. Swine Flu Death Reported 10Health News:Third U.S. Swine Flu Death Reported 11Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 2Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 3Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 4Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 5Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 6Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 7Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 8Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 9Health News:Confirmed Swine Flu Cases in U.S. Near 2,300 Mark 10Health News:Park Meadows Cosmetic Surgery, a Pioneer in DIEP Flap Breast Reconstruction Surgery in Colorado, Introduces New, Informative Website 2Health News:Park Meadows Cosmetic Surgery, a Pioneer in DIEP Flap Breast Reconstruction Surgery in Colorado, Introduces New, Informative Website 3Health News:Show Mom and Dad You Care Every Day of the Year; Give the Gift of Health Advocacy this Mother's and Father's Days 2Health News:Show Mom and Dad You Care Every Day of the Year; Give the Gift of Health Advocacy this Mother's and Father's Days 3
(Date:8/27/2014)... 28, 2014 China Nepstar Chain Drugstore ... "Company"), a leading retail drugstore chain in China ... today announced its unaudited financial results for the ... HighlightsFor the quarter ended June 30, 2014: , ... compared to RMB638.8 million in the second quarter ...
(Date:8/27/2014)... LONDON , Aug. 27, 2014 /PRNewswire/ ... research report: Co-development Terms & ... https://www.reportbuyer.com/product/2276221/Co-development-Terms--Agreements-in-Pharma-Biotech-and-Diagnostics.html The ... and Diagnostics report provides comprehensive understanding and ... agreements entered into by the worlds leading ...
(Date:8/27/2014)... About 8 million Americans have peripheral arterial ... fatty plaque in the arteries, according to recent statistics. ... in incidences of diabetes and obesity, the Society ... Arterial RevascularizatioN (LEARN) meeting, Oct. 9–11 in ... residents and fellows will be able to gain state-of-the-art ...
Breaking Medicine Technology:China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 2China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 3China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 4China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 5China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 6China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 7China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 8China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 9China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 10China Nepstar Chain Drugstore Ltd. Reports Second Quarter 2014 Financial Results 11Co-development Terms & Agreements in Pharma, Biotech and Diagnostics 2Co-development Terms & Agreements in Pharma, Biotech and Diagnostics 3Co-development Terms & Agreements in Pharma, Biotech and Diagnostics 4Co-development Terms & Agreements in Pharma, Biotech and Diagnostics 5Co-development Terms & Agreements in Pharma, Biotech and Diagnostics 6Co-development Terms & Agreements in Pharma, Biotech and Diagnostics 7LEARN to Treat Peripheral Arterial Disease Patients 2LEARN to Treat Peripheral Arterial Disease Patients 3
... ANGELES and OAKLAND, Calif., March 15, 2012  With the ... community clinics face unprecedented challenges. To flourish, clinics now ... To facilitate this change in strategy, ... Finance Fund (NFF), announces the California Catalyst Fund ...
... Inc., a clinical-stage biopharmaceutical company developing novel oncology therapeutics ... bulk, today announced that Kevin Buchi has joined its ... Executive Officer of Cephalon, Inc. through its $6.8 billion ... ) in October 2011, Mr. Buchi has served as ...
Cached Medicine Technology:New Restructuring Fund Launches for California Community Clinics 2Stemline Therapeutics Appoints Kevin Buchi, Former CEO of Cephalon, to Its Board of Directors 2
... the semi-quantitative determination of specific IgA autoantibodies ... of the anti-Gliadin IgA assay can be ... of diseases associated with elevated levels of ... these autoantibodies are one indicator in a ...
... ADVIA Urinalysis WorkCell System - A ... tests per hour, with true load-and-go ... of Clinitek Atlas and UF-100 for ... regarded systems working together deliver utmost ...
... (EIA) test kit is to be used ... in human serum during the second half ... (unconjugated) procedure is an enzyme immunoassay which ... binding. In the procedure, estriol is ...
Assay uses highly specific rabbit anti-estriol antibody reparation - negligible cross-reactivity with other estrogen metabolites. Excellent assay precision and reproducibility. Superior sensitivity ...
Medicine Products: