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:12/10/2014)... -- You,ve been here before: you desperately need to sign ... site key or the answer to your secret question. What,s ... Today, Hoyos Labs , a digital infrastructure ... put an end to the frustration that comes with usernames, ... leverages a user,s smartphone to acquire his or her biometrics ...
(Date:12/10/2014)... Dec. 9, 2014 CIE San Diego has ... provides the connective tissue that enhances care coordination among ... easily share client-level information; earned a second $1 million ... organizations serving seniors aging in community and; will be ... December 11 th 4-6p. CIE San ...
(Date:12/5/2014)... 2014 Increased emphasis on product quality, ... testing and inspection technologies. The convergence of industries ... range of innovative test solutions. This trend is ... which is generally more inclined towards communication, media ... strategies of test equipment vendors will cater to ...
Breaking Biology News(10 mins):The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 2The Password is Finally Dead: Launch of 1U Mobile App Eliminates Need for All Usernames and Passwords 3Community Information Exchange San Diego Launches Pilot, Secures $1 Million Expansion Grant, and Becomes a "Live Well San Diego" Partner 2Community Information Exchange San Diego Launches Pilot, Secures $1 Million Expansion Grant, and Becomes a "Live Well San Diego" Partner 3Community Information Exchange San Diego Launches Pilot, Secures $1 Million Expansion Grant, and Becomes a "Live Well San Diego" Partner 4Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 2Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 3Emerging Technologies Enable Smarter Monitoring of Assets, Push Industrial Testing, Inspection and Monitoring Market 4
(Date:12/19/2014)... Reports from CDC show ... from one or more chronic health conditions - including ... address some of these diseases, but may not eliminate ... face. While implanted nerve stimulation devices today offer relief, ... which can induce side effects. , To eliminate ...
(Date:12/19/2014)... December 19, 2014 In contrast to ... LEDs with various colors, Valoya uses proprietary LED technology ... offers best possible uniformity which is critical in low ... high spectral accuracy throughout its lifetime which is up ... tubes. , "The investment cost was clearly higher ...
(Date:12/19/2014)... With only 2 weeks left of ... Sartorius Biohit products . The product specials include Buy ... Pipette Trade-in Program, and free pipette tips. , Sartorius ... the world. They are ideal for lab technicians performing ... ,     Full volume range of 0.1 uL to ...
(Date:12/19/2014)... 18, 2014 Egenix, Inc. is pleased to announce ... of the Board, to succeed Donald Fresne ; Mr. ... continue as a member of the Board.  In recognition of ... the company over almost twenty years, the Board designated Mr. ... Directors has established a Search Committee to find a suitable ...
Breaking Biology Technology:Draper Wins GSK Funding for Smaller, Smarter Implantable Devices 2Major Pipette Distributor Pipette.com Announces Sartorius Year End Specials 2
Cached News: