Navigation Links
Gene discovery may shed light on kidney disease

In a finding that may have broader implications for understanding kidney disorders, genetics researchers at The Children's Hospital of Philadelphia have identified a second gene that gives rise to Alagille syndrome, a genetic developmental disease that affects multiple organs. The Children's Hospital team previously discovered the first gene associated with this disease.

The researchers found that mutations in the NOTCH2 gene were linked to kidney abnormalities in patients and families. "While Alagille syndrome is relatively rare, organ diseases are not rare, and our findings suggest that genes on this biological pathway may have a broader role in kidney disorders," said study leader Nancy B. Spinner, Ph.D., a geneticist at The Children's Hospital of Philadelphia.

The study appears in the July issue of the American Journal of Human Genetics.

Dr. Spinner led the Children's Hospital team that identified mutations in the JAG1 gene as a cause of Alagille syndrome in 1997. Like the NOTCH2 gene analyzed in the current study, JAG1 is part of a signaling pathway that governs important processes in early human development.

Alagille syndrome, estimated to occur in one in 20,000 individuals, is a complex disorder, primarily affecting the liver, heart, eyes, face and skeleton. Some patients with Alagille syndrome have very mild symptoms or isolated problems, while others may have severe, life-threatening heart or liver defects.

Both the JAG1 and the NOTCH2 genes participate in the Notch signaling pathway. JAG1 codes for the ligand Jagged1, a signaling protein that triggers receptors in the pathway. The NOTCH2 gene codes for Notch2, which is one of those receptors. The pathway as a whole is active during embryonic development, and transmits signals to cells to develop into specialized organs. Mutations in those genes are thought to disrupt normal development, by, for instance, causing the defective bile ducts found in the livers of man
'"/>

Source:Children's Hospital of Philadelphia


Page: 1 2

Related biology news :

1. Protein discovery could unlock the secret to better TB treatment
2. Purdue proves concept of using nano-materials for drug discovery
3. UCSD discovery may help extend life of natural pesticide
4. Leprosy microbes lead scientists to immune discovery
5. Biochemists report discovery of structure of major piece of telomerase; implications for cancer
6. Researchers make surprise discovery that some neurons can transmit three signals at once
7. Important discovery about second most fatal cancer
8. Harmless virus may hold key to more effective HIV drug discovery
9. Fundamental discovery -- Bone fracture
10. Genetic discovery could lead to drought-resistant plants
11. Gene discovery sheds light on causes of rare disease, cancer
Post Your Comments:
*Name:
*Comment:
*Email:
TAG: Gene discovery may shed light kidney disease

(Date:10/22/2014)... JOSE, Calif. , Oct. 20, 2014 ... the United States Air Force Research Laboratory (AFRL), has ... Integrative Medicine (AzCIM) at the University of Arizona College ... receive research funding.  The AzCIM project,s goal is to ... ability to collect different volumes of sweat under a ...
(Date:10/22/2014)... Aware, Inc. (NASDAQ: AWRE ), a leading supplier ... its third quarter ended September 30, 2014. Revenue ... increase of 40% compared to $4.3 million in the same ... 2014 was $4.1 million compared to $1.0 million in the ... three month period was primarily due to: i) a $1.0 ...
(Date:10/18/2014)... stress-related psychiatric disorders are associated with increased ... mechanisms underlying this relation are unknown. Understanding ... of targeted preventive strategies and new or ... work is presented at the European College ... international group of researchers from Germany and ...
Breaking Biology News(10 mins):Nano-Bio Manufacturing Consortium Selects Project Proposed by Arizona Center for Integrative Medicine to Optimize Human Performance Monitoring Techniques 2Nano-Bio Manufacturing Consortium Selects Project Proposed by Arizona Center for Integrative Medicine to Optimize Human Performance Monitoring Techniques 3Aware, Inc. Reports Third Quarter 2014 Financial Results 2Aware, Inc. Reports Third Quarter 2014 Financial Results 3Aware, Inc. Reports Third Quarter 2014 Financial Results 4Aware, Inc. Reports Third Quarter 2014 Financial Results 5Aware, Inc. Reports Third Quarter 2014 Financial Results 6Aware, Inc. Reports Third Quarter 2014 Financial Results 7Researchers find why depression and aging linked to increased disease risk 2
... drop in public concern over global warming, Americansregardless of political ... to the results of a national survey released today by ... survey found support for: , Funding more research ... percent) Tax rebates for people buying fuel-efficient vehicles ...
... , BLUE BELL, Pa. , Feb. ... announced that its Mexican subsidiary has been awarded a contract ... of Internal Affairs/National Citizen Registry) to create and manage an ... create a database with iris, fingerprint and facial biometric data ...
... available in <A HREF=",http://chinese.eurekalert.org/zh/pub_releases/2010-02/sfeb-cbc020310.php,">Chinese . ... do Paran and Instituto Carlos Chagas have ... expanded CD133+ cells human umbilical cord blood ... injecting them into a rat model. Patients ...
Cached Biology News:According to new survey, Americans support strong climate, energy policies 2Unisys Awarded Contract to Provide Advanced Biometric Citizen Identification Solution to Government of Mexico 2Unisys Awarded Contract to Provide Advanced Biometric Citizen Identification Solution to Government of Mexico 3
(Date:10/20/2014)... Mapp Biopharmaceutical,s valiant effort to produce ... fight the Ebola outbreak will make the public ... of pharmaceuticals can be, according to Kalorama Information.  ... some may be taken aback by the three-month ... knowledge are well aware of the complex issues ...
(Date:10/20/2014)... Inc. (TSXV: BRM) ("Biorem" or "the Company") today announced four new ... and provides a good start to Q4.  The orders are for ... and one in the Middle East . ... Peter Bruijns , President & CEO. "Total bidding activity and ... have been for any complete year since the company has tracked ...
(Date:10/20/2014)... Oct. 20, 2014 PureTech , a ... big healthcare problems, announced today the closing of ... participation from Invesco Perpetual, a $120 Billion group ... drive PureTech,s existing pipeline forward and to advance ... the scientific creativity to really go for the ...
(Date:10/20/2014)... Local veterinary surgeon, Dr. Tim McCarthy is ... donor stem cells for dogs with osteoarthritis. Dr. McCarthy ... performed clinical stem cell therapy for 7 years. The ... a single injection of donor stem cells into one ... and inflammation in the treated joints. , Candidates ...
Breaking Biology Technology:Kalorama: ZMapp Highlights Need For Faster Biopharmaceutical Production 2Kalorama: ZMapp Highlights Need For Faster Biopharmaceutical Production 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6Cascade Veterinary Referral Center Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2
... ICLL) today announced that the Australian Therapeutic Goods,Administration ... to,prevent Japanese Encephalitis. This final decision step for ... Australian Drug Evaluation,Committee (ADEC) in December 2008. , ... Australian authorities represents the first,regulatory approval for the ...
... Aerolase Corporation, a leading manufacturer of next-generation portable ... sales increased dramatically in 2008 over 2007. The ... market helped to more than offset current economic ... record sales month for Aerolase, and 2008 overall ...
... Jan. 23 Peter T. Wilderotter, president and CEO ... following statement today in response to FDA clearance of ... is an exciting first step for Geron and for ... to advances in medical research. There has been so ...
Cached Biology Technology:Australian Authorities (TGA) First to Grant Final Product Approval for Intercell's Vaccine to Prevent Japanese Encephalitis 2Australian Authorities (TGA) First to Grant Final Product Approval for Intercell's Vaccine to Prevent Japanese Encephalitis 3Australian Authorities (TGA) First to Grant Final Product Approval for Intercell's Vaccine to Prevent Japanese Encephalitis 4Aerolase Reports Strong Sales in 2008 for Portable Aesthetic Lasers 2Aerolase Reports Strong Sales in 2008 for Portable Aesthetic Lasers 3Christopher and Dana Reeve Foundation Response to FDA Clearance of Geron's Clinical Trial 2
... for the fast and simple integration of ... position (for the generation of transgenic mouse ... to allow neomycin / kanamycin selection in ... prokaryotic promoter (gb2) for expression of kanamycin ...
Includes a choice of any 3 EasySep mouse selection kits and EasySep magnet...
... These 1.5L PYREX trypsinizing flasks ... tissue samples into cell suspensions ... Heavy beaded neck accepts cotton ... vigorous agitation. • Height of ...
... Application: For the efficient enrichment ... mammalian tissue or cell culture. The ... synthesis, degradation and metabolic pathway analysis. ... acetyltransferase deficiency in children, cystic fibrosis ...
Biology Products: