Literature DB >> 33385755

Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy.

Jihad Womack1, Abitha Sukumaran1, Xiuqi Li1, Larisa Lozovatsky1, Patrick G Gallagher2, Jerome E Seid3, Karin E Finberg4.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2020        PMID： 33385755      PMCID： PMC8272917          DOI： 10.1016/j.bcmd.2020.102532

Source DB:  PubMed          Journal:  Blood Cells Mol Dis        ISSN： 1079-9796            Impact factor:   3.039


× No keyword cloud information.
  8 in total

1.  Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain.

Authors:  V Bach; A Remacha; A Altés; M J Barceló; M A Molina; M Baiget
Journal:  Blood Cells Mol Dis       Date:  2005-10-27       Impact factor: 3.039

2.  Sex and acquired cofactors determine phenotypes of ferroportin disease.

Authors:  Caroline Le Lan; Annick Mosser; Martine Ropert; Lénaïck Detivaud; Véronique Loustaud-Ratti; Denis Vital-Durand; Laurent Roget; Edouard Bardou-Jacquet; Bruno Turlin; Véronique David; Olivier Loréal; Yves Deugnier; Pierre Brissot; Anne-Marie Jouanolle
Journal:  Gastroenterology       Date:  2011-01-01       Impact factor: 22.682

3.  Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Authors:  Isabelle Callebaut; Rozenn Joubrel; Serge Pissard; Caroline Kannengiesser; Victoria Gérolami; Cécile Ged; Estelle Cadet; François Cartault; Chandran Ka; Isabelle Gourlaouen; Lénaick Gourhant; Claire Oudin; Michel Goossens; Bernard Grandchamp; Hubert De Verneuil; Jacques Rochette; Claude Férec; Gérald Le Gac
Journal:  Hum Mol Genet       Date:  2014-04-08       Impact factor: 6.150

4.  Global sequencing approach for characterizing the molecular background of hereditary iron disorders.

Authors:  Séverine Cunat; Muriel Giansily-Blaizot; Michael Bismuth; François Blanc; Olivier Dereure; Dominique Larrey; Alain Le Quellec; Philippe Pouderoux; Christian Rose; Isabelle Raingeard; Eric Renard; Jean-François Schved; Patricia Aguilar-Martinez
Journal:  Clin Chem       Date:  2007-10-19       Impact factor: 8.327

5.  Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.

Authors:  Lénaïck Détivaud; Marie-Laure Island; Anne-Marie Jouanolle; Martine Ropert; Edouard Bardou-Jacquet; Caroline Le Lan; Annick Mosser; Patricia Leroyer; Yves Deugnier; Véronique David; Pierre Brissot; Olivier Loréal
Journal:  Hum Mutat       Date:  2013-09-11       Impact factor: 4.878

Review 6.  Ironing out Ferroportin.

Authors:  Hal Drakesmith; Elizabeta Nemeth; Tomas Ganz
Journal:  Cell Metab       Date:  2015-10-01       Impact factor: 27.287

Review 7.  Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Authors:  L Tom Vlasveld; Roel Janssen; Edouard Bardou-Jacquet; Hanka Venselaar; Houda Hamdi-Roze; Hal Drakesmith; Dorine W Swinkels
Journal:  Pharmaceuticals (Basel)       Date:  2019-09-09

8.  Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms.

Authors:  Christian B Billesbølle; Caleigh M Azumaya; Rachael C Kretsch; Alexander S Powers; Shane Gonen; Simon Schneider; Tara Arvedson; Ron O Dror; Yifan Cheng; Aashish Manglik
Journal:  Nature       Date:  2020-08-19       Impact factor: 69.504
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.