Literature DB >> 22675794

Hemochromatosis: discovery of the HFE gene.

Bruce R Bacon1.   

Abstract

Hereditary hemochromatosis (HH) is a common inherited disorder of iron metabolism affecting about 1 in 250 individuals. HH results in an increased absorption of iron at the baso-lateral surface of the enterocyte with aberrant regulation of ferroportin-mediated transfer of iron in turn brought on by a decrease in circulating hepcidin. The medical literature describes a colorful history of HH with important contributions from faculty at Saint Louis University.

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Year:  2012        PMID: 22675794      PMCID: PMC6181731     

Source DB:  PubMed          Journal:  Mo Med        ISSN: 0026-6620


  7 in total

Review 1.  Iron overload in human disease.

Authors:  Robert E Fleming; Prem Ponka
Journal:  N Engl J Med       Date:  2012-01-26       Impact factor: 91.245

2.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors:  J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

3.  Orchestration of iron homeostasis.

Authors:  Robert E Fleming; Bruce R Bacon
Journal:  N Engl J Med       Date:  2005-04-28       Impact factor: 91.245

4.  Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.

Authors:  M Simon; M Bourel; R Fauchet; B Genetet
Journal:  Gut       Date:  1976-05       Impact factor: 23.059

5.  Molecular medicine and hemochromatosis: at the crossroads.

Authors:  B R Bacon; L W Powell; P C Adams; T F Kresina; J H Hoofnagle
Journal:  Gastroenterology       Date:  1999-01       Impact factor: 22.682

6.  Genetic hemochromatosis, a Celtic disease: is it now time for population screening?

Authors:  V Byrnes; E Ryan; S Barrett; P Kenny; P Mayne; J Crowe
Journal:  Genet Test       Date:  2001

7.  A population-based study of the clinical expression of the hemochromatosis gene.

Authors:  J K Olynyk; D J Cullen; S Aquilia; E Rossi; L Summerville; L W Powell
Journal:  N Engl J Med       Date:  1999-09-02       Impact factor: 91.245

  7 in total
  2 in total

1.  Diagnosis and management of hereditary haemochromatosis.

Authors:  Ruchit Sood; Ranjeeta Bakashi; Vinod S Hegade; Sean M Kelly
Journal:  Br J Gen Pract       Date:  2013-06       Impact factor: 5.386

Review 2.  Pancreatic iron quantification with MR imaging: a practical guide.

Authors:  Antonella Meloni; Vincenzo Positano; Laura Pistoia; Filippo Cademartiri
Journal:  Abdom Radiol (NY)       Date:  2022-05-21
  2 in total

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