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:


(Date:4/6/2017)... Forecasts by Product Type (EAC), ... End-Use (Transportation & Logistics, Government & Public Sector, Utilities ... Generation Facility, Nuclear Power), Industrial, Retail, Business Organisation (BFSI), ... you looking for a definitive report on the $27.9bn ... ...
(Date:4/3/2017)... 3, 2017  Data captured by IsoCode, ... detected a statistically significant association between the ... treatment and objective response of cancer patients ... predict whether cancer patients will respond to ... well as to improve both pre-infusion potency testing ...
(Date:3/28/2017)... , March 28, 2017 ... Biometrics), Hardware (Camera, Monitors, Servers, Storage Devices), Software (Video ... and Region - Global Forecast to 2022", published by ... in 2016 and is projected to reach USD 75.64 ... 2017 and 2022. The base year considered for the ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ComplianceOnline’s Medical Device Summit is back for ... June 2018 in San Francisco, CA. The Summit brings together current and former FDA ... board directors and government officials from around the world to address key issues in ...
(Date:10/11/2017)... ROTTERDAM, the Netherlands and LAGUNA HILLS, ... that The Institute of Cancer Research, London ... will use MMprofiler™ with SKY92, SkylineDx,s prognostic tool to risk-stratify ... high-risk trial known as MUK nine . The University ... this trial, which is partly funded by Myeloma UK, and ...
(Date:10/11/2017)... ... October 11, 2017 , ... Singh ... orphan drug designation to SBT-100, its novel anti-STAT3 (Signal Transducer and Activator of ... SBT-100 is able to cross the cell membrane and bind intracellular STAT3 and ...
(Date:10/10/2017)... ... 10, 2017 , ... For the second time in three ... Mentoring Award. Representatives of the FirstHand program travelled to Washington, D.C. Tuesday, October ... US2020’s mission is to change the trajectory of STEM education in America by ...
Breaking Biology Technology:
Cached News: