Navigation Links
JCI table of contents: Aug. 16, 2007
Date:8/16/2007

searchers from Indiana University School of Medicine have identified in a third gene a mutation that causes tumoral calcinosis.

In the study, which appears online on August 16 in advance of publication in the September print issue of the Journal of Clinical Investigation, Michael Econs and colleagues show that a 13 year old girl with tumoral calcinosis has a mutation in both copies of her KL gene. In vitro analysis revealed that the KL protein resulting from this mutation was expressed and secreted at lower levels than normal KL and that it was unable to help FGF23 mediate its functions. This study provides insight into why mutations in the KL gene cause tumoral calcinosis and gives clinicians a new candidate gene to consider when attempting to determine the etiology of tumoral calcinosis.

TITLE: A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

AUTHOR CONTACT: Michael J. Econs Indiana University School of Medicine, Indianapolis, Indiana, USA. Phone: (317) 274-1339; Fax: (317) 278-0658; E-mail: mecons@iupui.edu.

View the PDF of this article at: https://www.the-jci.org/article.php?id=31330


'/>"/>
Contact: Karen Honey
press_releases@the-jci.org
215-573-1850
Journal of Clinical Investigation
Source:Eurekalert

Page: 1 2 3 4 5 6 7

Related biology news :

1. Highly adaptable genome in gut bacterium key to intestinal health
2. Development of portable infectious disease detector
3. Scientists identify genes responsible for black rot disease in vegetables
4. Recombinant DNA technology may enable oral, rather than injectable, delivery of protein drugs
5. Aloe vera coating may prolong freshness, safety of fruits and vegetables
6. Nanotechnology to provide portable genetic risk detection
7. New study shows patients more willing to consider self-injectable HIV therapy than many physicians anticipate
8. Implantable pumps extend lives of patients too sick for transplant
9. Bioengineers create stable networks of blood vessels
10. Portable cocaine sensor developed at UC Santa Barbara
11. Researchers develop portable vein finder for faster, more accurate injections
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:7/8/2015)... LAKES , N.J. and NEW YORK ... Company) and Guidepoint today announced BD ... start-up healthcare companies with free access to Guidepoint,s expert ... several start-ups that are developing cutting-edge technologies to improve ... a dedicated Guidepoint research manager, each start-up entrepreneur will ...
(Date:7/7/2015)... MOUNTAIN VIEW, Calif. , July 7, 2015 ... mobile biometrics market, Frost & Sullivan recognizes Credence ... & Sullivan Entrepreneurial Company of the Year ... product suite to aid in its mission of ... and under-recognized populations globally. As Credence ID was ...
(Date:7/2/2015)... 2015 Fingerprint Cards has received an ... FPC1155 from the distributor World Peace Industrial Group (WPI), part ... Asia . Deliveries are planned to take ... used by smartphone manufacturers in Asia . ... communicated revenue guidance of approximately 2,200 MSEK for 2015. ...
Breaking Biology News(10 mins):BD and Guidepoint Team to Connect Healthcare Start-up Companies With Business and Scientific Experts 2BD and Guidepoint Team to Connect Healthcare Start-up Companies With Business and Scientific Experts 3Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 2Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 3Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 4Frost & Sullivan Acknowledges the Distinctive Customer-focused Attributes of Credence ID's Mobile Biometric Product Suite 5FPC Receives Order for Touch Fingerprint Sensors of 268 MSEK 2
... detected from space for the first time using optical ... aboard Envisat. The ability to monitor Sargassum globally will ... the ocean and better predict climate change. Credit: ESA ... ships in its dense floating vegetation, has been detected ...
... are moving closer to understanding why the most lethal ... treatment in the past three decades. They have been ... a protozoan gene that contributes to such resistance. And ... constructed over a two-year period is believed to be ...
... postdoctoral fellow at the University of Oregon, has shown that ... soil bacteria needed to provide a natural fertilizer to crops. ... boost crop yields may instead be contributing to growth problems, ... years of research both in the test tube and, now, ...
Cached Biology News:Envisat captures first image of Sargassum from space 2Largest synthetic gene ever built offers insights into anti-malarial drug resistance 2Largest synthetic gene ever built offers insights into anti-malarial drug resistance 3Largest synthetic gene ever built offers insights into anti-malarial drug resistance 4Pesticides choke pathway for nature to produce nitrogen for crops 2Pesticides choke pathway for nature to produce nitrogen for crops 3
(Date:7/29/2015)... , July 29, 2015  Pfenex Inc. (NYSE ... financial results will be released on Thursday, August 13, ... Eastern Time, Pfenex management will host a conference call ... update.  A press release outlining the financial results and ... call. Please call 1-866-376-8058 (US) or 1-412-542-4131 ...
(Date:7/29/2015)... ... July 29, 2015 , ... The third Medical Innovation Impact ... products , in particular, drug/device combinations. The current system received a score of 0 ... for Patient Centered Innovation (iPCI) of Fairleigh Dickinson University’s ( FDU ) Rothman ...
(Date:7/29/2015)... , July 29, 2015 /PRNewswire/ - Aeterna Zentaris ... announced it has selected an optimized Erk inhibitor ... in the development of a new class of ... pathway represents a prime target for therapeutic intervention ... activities and survival benefits for B-Raf and Mek ...
(Date:7/29/2015)... ... July 29, 2015 , ... ... a Silicon Valley-based CRO specializing in Clinical Trial Management. CSSi LifeSciences is specialized ... The core expertise of PRC Clinical is focused on Clinical Trial Management, Clinical ...
Breaking Biology Technology:Pfenex To Report Second Quarter 2015 Results and Provide Business Update on Thursday, August 13, 2015 2Third Medical Innovation Impact Index Issued by Fairleigh Dickinson University’s Initiative for Patient-Centered Innovation (iPCI) 2Third Medical Innovation Impact Index Issued by Fairleigh Dickinson University’s Initiative for Patient-Centered Innovation (iPCI) 3Aeterna Zentaris Announces Optimized Erk Inhibitor Compounds For Further Development 2Aeterna Zentaris Announces Optimized Erk Inhibitor Compounds For Further Development 3CSSi LifeSciences And PRC Clinical Join Forces To Offer Extended Clinical Trial Services 2CSSi LifeSciences And PRC Clinical Join Forces To Offer Extended Clinical Trial Services 3
... sets the new global standard to eradicate ... in health care facilities, including MRSA and ... ... BioNeutral announces successful,testing of its Ygiene(TM) Hospital Grade antimicrobial against,antibiotic-resistant microorganisms ...
... Xceed Molecular, a pioneer in,the development of ... has selected the company,s Ziplex,System as a recipient ... Oscars of Invention by The Chicago Tribune, the ... mark of excellence known to industry,government, and academia ...
... SEATTLE and OSLO, Norway, Aug. 19 ... Affitech AS, a,Norwegian human antibody therapeutics company, ... agreement for the discovery and development of ... or mannan-binding,lectin-associated serine protease-2, mediates activation of ...
Cached Biology Technology:BioNeutral's Ygiene(TM) New Hospital Grade Disinfectant Will Save Lives and Billions of Dollars Annually at Health Care Facilities Around the World 2BioNeutral's Ygiene(TM) New Hospital Grade Disinfectant Will Save Lives and Billions of Dollars Annually at Health Care Facilities Around the World 3BioNeutral's Ygiene(TM) New Hospital Grade Disinfectant Will Save Lives and Billions of Dollars Annually at Health Care Facilities Around the World 4Xceed Ziplex(R) System for Automated Gene-Expression Analysis Wins 2008 R&D 100 Award 2Affitech and Omeros Enter Into Antibody Discovery and Development Agreement 2Affitech and Omeros Enter Into Antibody Discovery and Development Agreement 3
... does for enzyme-/substrate-based blotting what intensifying screens do ... up to 10-fold (or one order of magnitude) ... Signal Enhancer membrane treatment is a simple, 15-minute ... current Western blotting protocol. The result is an ...
...
... Expression is a revolutionary new ... analysis. Utilising a novel interface, Expression ... information incredibly simple. Expression uses the ... new standards in the way sequences ...
... Solution is a comprehensive suite of ... specifically designed to reliably extract biological ... genomic studies containing thousands of samples, ... efficient and will analyze large data ...
Biology Products: