Navigation Links
JCI online early table of contents: Jan. 9, 2012
Date:1/9/2012

EDITOR'S PICK: Genetic and mechanistic basis for rotor syndrome uncovered

The main symptom of Rotor syndrome is jaundice caused by a buildup of a substance known as conjugated bilirubin. Bilirubin is a yellow substance generated in large quantities when the body recycles red blood cells. It is conjugated in the liver to make it soluble in water so that it can be cleared from the body. Although Rotor syndrome is known to be a genetic disorder, it is not known which genes are involved. However, a team of researchers led by Alfred Schinkel, at The Netherlands Cancer Institute, The Netherlands; and Milan Jirsa, at the Institute for Clinical and Experimental Medicine, Czech Republic has now linked genetic mutations predicted to cause complete and simultaneous deficiencies of the proteins OATP1B1 and OATP1B3 to Rotor syndrome in 8 families. Detailed analysis in mice identified the underlying mechanism involved. Moreover, further screening of Rotor syndrome families suggested that although complete lack of either OATP1B1 or OATP1B3 alone does not cause Rotor syndrome, it could cause hypersensitivity to certain drugs.

TITLE: Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

AUTHOR CONTACT:
Alfred H. Schinkel
The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Phone: 31-20-5122046; Fax: 31-20-6961383; E-mail: a.schinkel@nki.nl.

Milan Jirsa,
Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Phone: 420-261362773; Fax: 420-241721666; E-mail: miji@ikem.cz.

View this article at:
http://www.jci.org/articles/view/59526?key=77ba9b5e1633eb26e3a6

EDITOR'S PICK: New gene, new mechanism for neuron loss in hereditary spastic para
'/>"/>

Contact: Karen Honey
press_releases@the-jci.org
734-546-5242
Journal of Clinical Investigation
Source:Eurekalert

Page: 1 2 3 4 5 6 7

Related medicine news :

1. TheReliefPlace.com Launches Online Store “The Relief Shop” - What Does this Medical Supply Store Carry and How Can They Help You?
2. Web Content Management Enables Government Transparency, Participation, and Collaboration Online
3. DavisPTnetwork Partners with the New York Physical Therapy Association to Provide Online Continuing Education
4. PERSONALABS Offers Discounted Healthy Heart Online Blood Tests in February
5. Pharmahelper Pleased To Recognize Online Pharmacy Practice Standards Announced By Google Adwords
6. Online Dating Reinvents Itself with the Recent Roll-Out of Teacherhookup.com, a Free Website that Focuses on a Person's Career in Education!
7. EdenHome.com Adds Aventura Organic Clothes to Site and Announces Largest Online Selection of Stylish Organic Clothes for Men, Women and Children
8. Fire Protection Online Resolves Safety Concerns with CO2 Fire Extinguishers
9. JCI online early table of contents: Feb. 15, 2010
10. Fitness Trend Towards Online Personal Training Gets Real-World Weight Loss Results on FitOrbit.com
11. New Online Store Makes Buying Cosmetics a Healthy Choice
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:11/22/2014)... November 22, 2014 Lipitor lawsuits ( ... patients who allegedly developed Type 2 diabetes due to ... multidistrict litigation now underway in U.S. District Court, District ... court documents, the litigation will convene its next Status ... has directed Lead Counsel for Plaintiffs and Defendants to ...
(Date:11/22/2014)... Recently, UWDress.com is gratified to introduce ... . In addition, the company has also offered an ... a leading online supplier of wedding dresses, UWDress.com is ... unusual best wedding guest gowns are provided over 20 ... this new selection is famous for high quality. Therefore, ...
(Date:11/22/2014)... Sandbridge Capital, a private equity firm ... brand sector, acquired a minority stake in BackJoy ... help fund BackJoy’s global growth and accelerate the ... apparel and footwear lines. Sandbridge Capital Managing Partner ... , BackJoy is a high-growth health and wellness ...
(Date:11/22/2014)... 2014 “Greenfield Naturals” was featured on ... , which features the latest and coolest technology products ... reporter for NewsWatch, conducted the product review and shared ... of your water. , From pollution to hazardous substances ... everything is done to remove these chemicals, especially in ...
(Date:11/22/2014)... 21, 2014 (HealthDay News) -- A clinical trial of ... been halted a year early because the results show ... the disease and reduce the risk of stroke. ... 25 medical centers in the United States and Canada, ... Lung, and Blood Institute (NHLBI). Researchers compared monthly ...
Breaking Medicine News(10 mins):Health News:Lipitor Lawsuit Conference Scheduled for December, Bernstein Liebhard LLP Reports 2Health News:Lipitor Lawsuit Conference Scheduled for December, Bernstein Liebhard LLP Reports 3Health News:Best Wedding Guest dresses Introduced by UWDress.com 2Health News:Sandbridge Capital Acquires a Minority Stake in BackJoy 2Health News:Sandbridge Capital Acquires a Minority Stake in BackJoy 3Health News:An Easy Home Solution to Get Better Tasting Water was Featured on NewsWatch Television on October 30, 2014 2Health News:Sickle Cell Anemia Treatment So Successful in Kids That Trial Is Halted 2
... 4, 2008 Bayada Nurses will hold,a news conference ... and the,public about the importance of raising the Medicaid ... health care, and allow more,individuals to benefit from the ... 190,000 Pennsylvanians use home health care services each,week -- ...
... Receives National Award for Arming Oncologists, Families and ... 2008 When the,critically acclaimed A LION IN ... the film galvanized public attention for childhood cancer ... their families. Now,LION,s producers are being honored in ...
... ARBOR, Mich.---Having a husband creates an extra seven hours a ... Michigan study of a nationally representative sample of U.S. families. ... saves men from about an hour of housework a week. ... housework trends, based on 2005 time-diary data from the federally-funded ...
... Study by New York,s premier dermatologist, Dr. David J. ... first ... 4, 2008 Aesthetic Technologies,announced during the 28th Annual ... Kissimmee, Fla., the introduction of its,Parisian Peel(R) Suffusion System. ...
... Donation Will Be Made to Middle Island Man, 32, Injured ... 4, 2008 The,following was released by The SCOOTER Store:, ... New York,City patrolman and Suffolk County parks policeman, John ... Tim Bishop (NY - 1st District), Suffolk County Legislator ...
... Ohio) More than 600,000 children participate in school-sponsored ... Yet gymnastics continues to be overlooked in terms of ... injury rates of all girls sports. , A study, ... and Policy (CIRP) at The Research Institute at Nationwide ...
Cached Medicine News:Health News:Acclaimed A LION IN THE HOUSE Team Honored in Washington for Pioneering Work on Pediatric Cancer 2Health News:Acclaimed A LION IN THE HOUSE Team Honored in Washington for Pioneering Work on Pediatric Cancer 3Health News:Exactly how much housework does a husband create? 2Health News:Parisian Peel(R) Introduces Anti-Aging Suffusion System 2Health News:Parisian Peel(R) Introduces Anti-Aging Suffusion System 3
(Date:11/21/2014)... , Nov. 20, 2014 /CNW Telbec/ - KLOX ... announce the following appointments: Todd ... in the newly created role of Chief Commercial Officer, ... system using topical photoconverter gel for the treatment of ... and traumatic wounds, recently approved in Europe ...
(Date:11/21/2014)... Michael DeMarco (42) erinnert sich ... Februar 2014 zugetragen hat. Seine Tochter Aly Demarco (13) ... Video - http://youtu.be/5cVoMCe0uiE „Man ... Training zu machen", erzählt Michael DeMarco . „Meine ... begeisterte Anhänger der CrossFit-Trainingsmethode. Ich war auf dem Fahrrad, ...
(Date:11/21/2014)... , Nov. 20, 2014   Coqui RadioPharmaceuticals Corp. ... first U.S. commercial producer of Molybdenum-99 (Mo-99), is proud ... INVAP to design its Medical Isotope Production ... Mo-99 is the parent isotope of Technetium-99, which is ... In 2012, Congress passed legislation making it a national ...
Breaking Medicine Technology:KLOX Technologies announces executive appointments 2KLOX Technologies announces executive appointments 3KLOX Technologies announces executive appointments 4Tochter rettet Vater durch Herz-Lungen-Wiederbelebung vor plötzlichem Herztod 2Tochter rettet Vater durch Herz-Lungen-Wiederbelebung vor plötzlichem Herztod 3Coqui RadioPharmaceuticals Inks Deal With INVAP 2
... BETHESDA, Md., May 25, 2011 Northwest Biotherapeutics (OTC.BB: ... of clinical trial sites, exceeding its projections for the ... quarter, for enrollment of new patients into the Company,s ... of DCVax® immune therapy for Glioblastoma multiforme (GBM), the ...
... 25, 2011 Executives from Medco Health Solutions, Inc. (NYSE: ... investor conferences: Timothy Wentworth, Group President, Employer and ... Strategic Decisions Conference on Wednesday, June 1 at 10 a.m. ... New York.  Richard J. Rubino, Medco,s chief financial officer, is ...
Cached Medicine Technology:Northwest Biotherapeutics Further Expands Ongoing Brain Cancer Trial 2Northwest Biotherapeutics Further Expands Ongoing Brain Cancer Trial 3Medco Executives to Present at Upcoming Investor Conferences 2
Dissecting Forceps, straight, with RF-cable, 7" (18 cm). For use with all electrosurgical generators with standard three-prong sockets....
... the art in inverted microscopy from Zeiss. ... range of ICS objectives, with innovative condensers ... an unusual scope of sophisticated documentation and ... designed. And Axiovert 200 M, fully motorized, ...
... optics and workmanship are the hallmark of ... sensitivity in mind. The top (incident) circular ... eliminating shadows while remaining cool to the ... available with 10x to 44x zoom magnification ...
... system designed for scientific microscope imaging ... cameras provides high-resolution, full-color images and ... PC via its Firewire (IEEE 1394) ... is accompanied by automatic white balance ...
Medicine Products: