Literature DB >> 9326341

The significance of the 187G (H63D) mutation in hemochromatosis.

E Beutler.   

Abstract

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Year:  1997        PMID： 9326341      PMCID： PMC1715965     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  13 in total

1.  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

2.  Haemochromatosis and HLA-H.

Authors:  E C Jazwinska; L M Cullen; F Busfield; W R Pyper; S I Webb; L W Powell; C P Morris; T P Walsh
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

3.  Haemochromatosis and HLA-H.

Authors:  A M Jouanolle; G Gandon; P Jézéquel; M Blayau; M L Campion; J Yaouanq; J Mosser; P Fergelot; B Chauvel; P Bouric; G Carn; N Andrieux; I Gicquel; J Y Le Gall; V David
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

4.  Genetic irony beyond haemochromatosis: clinical effects of HLA-H mutations.

Authors:  E Beutler
Journal:  Lancet       Date:  1997-02-01       Impact factor: 79.321

5.  HLA-H and associated proteins in patients with hemochromatosis.

Authors:  E Beutler; C West; T Gelbart
Journal:  Mol Med       Date:  1997-06       Impact factor: 6.354

6.  Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

Authors:  A G Roberts; S D Whatley; R R Morgan; M Worwood; G H Elder
Journal:  Lancet       Date:  1997-02-01       Impact factor: 79.321

7.  Mutation analysis in hereditary hemochromatosis.

Authors:  E Beutler; T Gelbart; C West; P Lee; M Adams; R Blackstone; P Pockros; M Kosty; C P Venditti; P D Phatak; N K Seese; K A Chorney; A E Ten Elshof; G S Gerhard; M Chorney
Journal:  Blood Cells Mol Dis       Date:  1996       Impact factor: 3.039

8.  beta2 knockout mice develop parenchymal iron overload: A putative role for class I genes of the major histocompatibility complex in iron metabolism.

Authors:  B E Rothenberg; J R Voland
Journal:  Proc Natl Acad Sci U S A       Date:  1996-02-20       Impact factor: 11.205

9.  Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.

Authors:  E C Jazwinska; W R Pyper; M J Burt; J L Francis; S Goldwurm; S I Webb; S C Lee; J W Halliday; L W Powell
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

10.  Defective iron homeostasis in beta 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man.

Authors:  M Santos; M W Schilham; L H Rademakers; J J Marx; M de Sousa; H Clevers
Journal:  J Exp Med       Date:  1996-11-01       Impact factor: 14.307
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  22 in total

1.  Molecular biology and the diagnosis and treatment of liver diseases.

Authors:  Howard J Worman; Lin Feng; Naoto Mamiya
Journal:  World J Gastroenterol       Date:  1998-06       Impact factor: 5.742

2.  Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause?

Authors:  P Aguilar-Martinez; M Bismuth; M C Picot; C Thelcide; G P Pageaux; F Blanc; P Blanc; J F Schved; D Larrey
Journal:  Gut       Date:  2001-06       Impact factor: 23.059

Review 3.  Targeted disruption of the HFE gene.

Authors:  E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1998-03-03       Impact factor: 11.205

Review 4.  Non-viral causes of hepatocellular carcinoma.

Authors:  Wojciech Blonski; David S Kotlyar; Kimberly A Forde
Journal:  World J Gastroenterol       Date:  2010-08-07       Impact factor: 5.742

Review 5.  The hereditary hemochromatosis gene (HFE): a MHC class I-like gene that functions in the regulation of iron homeostasis.

Authors:  J N Feder
Journal:  Immunol Res       Date:  1999       Impact factor: 2.829

6.  Lack of association of primary iron overload and common HFE gene mutations with liver cirrhosis in adult Indian population.

Authors:  Shalu Jain; Sarita Agarwal; Parag Tamhankar; Prashant Verma; Gourdas Choudhuri
Journal:  Indian J Gastroenterol       Date:  2011-08-06

7.  HFE Gene Variants' Impact on Anthracycline-Based Chemotherapy-Induced Subclinical Cardiotoxicity.

Authors:  Domas Vaitiekus; Gintare Muckiene; Audrone Vaitiekiene; Liveta Sereikaite; Ruta Inciuraite; Ruta Insodaite; Daiva Cepuliene; Juozas Kupcinskas; Rasa Ugenskiene; Renaldas Jurkevicius; Elona Juozaityte
Journal:  Cardiovasc Toxicol       Date:  2020-08-03       Impact factor: 3.231

8.  Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.

Authors:  Shunji Tomatsu; Koji O Orii; Robert E Fleming; Christopher C Holden; Abdul Waheed; Robert S Britton; Monica A Gutierrez; Susana Velez-Castrillon; Bruce R Bacon; William S Sly
Journal:  Proc Natl Acad Sci U S A       Date:  2003-12-12       Impact factor: 11.205

9.  Heritability of serum iron measures in the hemochromatosis and iron overload screening (HEIRS) family study.

Authors:  Christine E McLaren; James C Barton; John H Eckfeldt; Gordon D McLaren; Ronald T Acton; Paul C Adams; Leora F Henkin; Victor R Gordeuk; Chris D Vulpe; Emily L Harris; Barbara W Harrison; Jacob A Reiss; Beverly M Snively
Journal:  Am J Hematol       Date:  2010-02       Impact factor: 10.047

10.  Iron overload is rare in patients homozygous for the H63D mutation.

Authors:  Melissa Kelley; Nikhil Joshi; Yagang Xie; Mark Borgaonkar
Journal:  Can J Gastroenterol Hepatol       Date:  2014-04
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