Literature DB >> 12068297

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

Sébastien Küry1, Brigitte Dréno, Stéphane Bézieau, Stéphanie Giraudet, Monia Kharfi, Ridha Kamoun, Jean-Paul Moisan.   

Abstract

We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.

Entities:  

Mesh:

Substances:

Year:  2002        PMID: 12068297     DOI: 10.1038/ng913

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  136 in total

Review 1.  Zinc: dietary intake and impact of supplementation on immune function in elderly.

Authors:  Eugenio Mocchegiani; Javier Romeo; Marco Malavolta; Laura Costarelli; Robertina Giacconi; Ligia-Esperanza Diaz; Ascension Marcos
Journal:  Age (Dordr)       Date:  2012-01-06

2.  Clinical utility gene card for: acrodermatitis enteropathica.

Authors:  Sébastien Küry; Monia Kharfi; Sébastien Schmitt; Stéphane Bézieau
Journal:  Eur J Hum Genet       Date:  2011-12-14       Impact factor: 4.246

3.  Differentiation- and polarization-dependent zinc tolerance in Caco-2 cells.

Authors:  Nina Zemann; Adolf Zemann; Petra Klein; Ibrahim Elmadfa; Manfred Huettinger
Journal:  Eur J Nutr       Date:  2010-11-20       Impact factor: 5.614

4.  Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

Authors:  Sébastien Küry; Monia Kharfi; Eric Blouin; Sébastien Schmitt; Stéphane Bézieau
Journal:  Eur J Hum Genet       Date:  2015-10-07       Impact factor: 4.246

5.  Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature.

Authors:  G Ricci; S Ferrari; E Calamelli; L Ricci; I Neri; A Patrizi
Journal:  Int J Immunopathol Pharmacol       Date:  2015-12-18       Impact factor: 3.219

6.  Acrodermatitis enteropathica in a pair of twins.

Authors:  Abdullatif Al Rashed; Mohja Al Shehri; Feroze Kaliyadan
Journal:  J Dermatol Case Rep       Date:  2016-12-31

7.  Structure-function analysis of LIV-1, the breast cancer-associated protein that belongs to a new subfamily of zinc transporters.

Authors:  Kathryn M Taylor; Helen E Morgan; Andrea Johnson; Lisa J Hadley; Robert I Nicholson
Journal:  Biochem J       Date:  2003-10-01       Impact factor: 3.857

8.  Zinc deficiency and its inherited disorders -a review.

Authors:  M Leigh Ackland; Agnes Michalczyk
Journal:  Genes Nutr       Date:  2006-03       Impact factor: 5.523

9.  The Znt4 mutation inlethal milk mice affects intestinal zinc homeostasis through the expression of other Zn transporters.

Authors:  Chiara Murgia; Isabella Vespignani; Rita Rami; Giuditta Perozzi
Journal:  Genes Nutr       Date:  2006-03       Impact factor: 5.523

10.  Responsive transporter genes within the murine intestinal-pancreatic axis form a basis of zinc homeostasis.

Authors:  Juan P Liuzzi; Jeffrey A Bobo; Louis A Lichten; Don A Samuelson; Robert J Cousins
Journal:  Proc Natl Acad Sci U S A       Date:  2004-09-20       Impact factor: 11.205

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.