HOME >> BIOLOGY >> NEWS
JCI Table of Contents, 1 October, 2003

A binding factor that exists and accumulates in the cytoplasm of resting cells. Relocation of NF-kappaB to the cell nucleus is a crucial step in the expression of many genes fundamental to cell development, survival, and function. Jean-Laurent Casanova and colleagues report a novel human mutation in the gene encoding the protein NEMO, which negatively regulates NF-kappaB activation. This mutation gives rise to the clinical syndrome ectodermal dysplasia, characterized by the abnormal development of the skin, hair, nails, teeth, and sweat glands in addition to an increased susceptibility to infection.

In an accompanying commentary, Jordan Orange and Raif Geha from Harvard Medical School discuss how the study of human gene mutations that result in dysreguation of the NF-kappaB pathway has provided insight into the functions of individual components of NF-kappaB activation, their interrelations, and the significance of these signaling pathways to the human body.

TITLE: A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

AUTHOR CONTACT:
Jean-Laurent Casanova
Universit de Paris Ren Descartes-INSERM 550, Paris, France.
Phone: 33-1-40-61-53-81
Fax: 33-1-40-61-56-88
E-mail: casanova@necker.fr

View the PDF of this article at: https://www.the-jci.org/press/18714.pdf

ACCOMPANYING COMMENTARY:
Finding NEMO: genetic disorders of NF-kappaB activation

AUTHOR CONTACT:
Raif S. Geha
Children's Hospital, Boston, Massachusetts, USA.
Phone: 617-355-7603
Fax: 617-730-0528
E-mail: Raif.Geha@TCH.Harvard.edu

View the PDF of this commentary at: https://www.the-jci.org/press/19960.pdf



'"/>

Contact: Brooke Grindlinger
science_editor@the-jci.org
212-342-9006
Journal of Clinical Investigation
1-Oct-2003


Page: 1 2 3 4 5 6 7 8 9 10 11 12 13

Related biology news :

1. JCI Table of Contents, 15 July 2004
2. JCI Table of Contents, January 15 2004
3. JCI Table of Contents, November 3, 2003
4. JCI Table of Contents, September 15, 2003
5. JCI Table of Contents
6. JCI Table of Contents, 15 August 2003
7. JCI Table of Contents, May 1, 2003
8. JCI Table of Contents, April 1, 2003
9. JCI Table of Contents, March 14, 2003
10. JCI Table of Contents, January 2, 2003
11. JCI Table of Contents, December 2, 2002

Post Your Comments:
*Name:
*Comment:
*Email:
TAG: JCI Table Contents October

(Date:12/22/2014)... 2014 Holiday Season may be the brightest ever for ... the long anticipated floodgates for consumer biometrics may finally ... phones, tablets, and wearable mobile devices that incorporate biometrics ... with nearly 4.8 billion biometric devices by 2020.   ...
(Date:12/19/2014)... Dec. 18, 2014   LaunchKey , the first decentralized ... and Internet of Things era, today announced the close ... round was led by Metamorphic Ventures with participation from ... VegasTechFund, and others.  LaunchKey has raised $4 million to ...
(Date:12/17/2014)... , Dec. 16, 2014 Valencell, a leader in ... biometric technology to industry leaders such as Intel, Jabra, ... validated, biometric wearable products. These products will be showcased ... Las Vegas . "Our ...
Breaking Biology News(10 mins):First Season of Holiday Shopping with Mobile Biometric Payments Wraps Up With a Present for Biometrics Industry: A Rosy Forecast for More Than 2 Billion Users of 4.8 Billion Mobile Biometric Devices by 2020 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 2LaunchKey Raises $3 Million in Additional Funding Led by Metamorphic Ventures 3Valencell PerformTek Biometrics Power the Most Accurate Wearables at CES 2015 2
(Date:1/22/2015)... GEA Niro Soavi the leader in high pressure ... 2000, which is ideal for new applications for processing ... . This compact laboratory homogenizer is the perfect solution ... additives and ingredients as well as for the ...
(Date:1/22/2015)... Crystal Diagnostics (CDx) Xpress System, a rapid ... AOAC-PTM Certifications for the six non-O157 Shiga toxin-producing E. coli ... to as STEC or the “Big-6”) as well as Escherichia ... per 325 g of raw ground beef and raw beef ...
(Date:1/22/2015)... Selexis SA, a serial innovation company with ... used for drug discovery to commercial manufacturing, announced today ... Next-Generation Sequencing (NGS) data packages. The NGS analysis ... ensuring the integrity of the gene, validation of the ...
(Date:1/22/2015)... GenoSpace , a precision medicine software company that has developed ... of genomic, imaging and other biomedical data in research and ... , CEO of Aspera, an IBM Company, to its board ... "We are pleased to welcome Michelle ...
Breaking Biology Technology:GEA Niro Soavi Announces the PandaPLUS 2000 Homogenizer for Processing New Applications for Nanoemulsions and Cell Disruption 2Crystal Diagnostics Awarded AOAC-PTM Accreditation for the Rapid Detection of “Big 6” E.coli Food Pathogens 2Selexis Generated Research Cell Banks Now Fully Sequenced Using Next-Generation Sequencing 2GenoSpace Expands Board with Appointment of Michelle Munson 2
Cached News: