Literature DB >> 21454877

Novel observations in hereditary hemochromatosis: potential implications for clinical strategies.

Dorine W Swinkels, Robert E Fleming.   

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Year:  2011        PMID： 21454877      PMCID： PMC3069220          DOI： 10.3324/haematol.2011.042036

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  20 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

Review 2.  Hereditary hemochromatosis: genetic complexity and new diagnostic approaches.

Authors:  Dorine W Swinkels; Mirian C H Janssen; Jürgen Bergmans; Joannes J M Marx
Journal:  Clin Chem       Date:  2006-04-20       Impact factor: 8.327

3.  A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.

Authors:  O T Njajou; N Vaessen; M Joosse; B Berghuis; J W van Dongen; M H Breuning; P J Snijders; W P Rutten; L A Sandkuijl; B A Oostra; C M van Duijn; P Heutink
Journal:  Nat Genet       Date:  2001-07       Impact factor: 38.330

4.  Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Authors:  Patricia Aguilar-Martinez; Bernard Grandchamp; Séverine Cunat; Estelle Cadet; François Blanc; Marlène Nourrit; Kaiss Lassoued; Jean-François Schved; Jacques Rochette
Journal:  Haematologica       Date:  2011-01-12       Impact factor: 9.941

5.  Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression.

Authors:  Jodie L Babitt; Franklin W Huang; Diedra M Wrighting; Yin Xia; Yisrael Sidis; Tarek A Samad; Jason A Campagna; Raymond T Chung; Alan L Schneyer; Clifford J Woolf; Nancy C Andrews; Herbert Y Lin
Journal:  Nat Genet       Date:  2006-04-09       Impact factor: 38.330

6.  Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells.

Authors:  A Waheed; S Parkkila; X Y Zhou; S Tomatsu; Z Tsuchihashi; J N Feder; R C Schatzman; R S Britton; B R Bacon; W S Sly
Journal:  Proc Natl Acad Sci U S A       Date:  1997-11-11       Impact factor: 11.205

7.  Synopsis of the Dutch multidisciplinary guideline for the diagnosis and treatment of hereditary haemochromatosis.

Authors:  D W Swinkels; A T M Jorna; R A P Raymakers
Journal:  Neth J Med       Date:  2007-12       Impact factor: 1.422

8.  Serum hepcidin levels are innately low in HFE-related haemochromatosis but differ between C282Y-homozygotes with elevated and normal ferritin levels.

Authors:  Boukje A C van Dijk; Coby M M Laarakkers; Siem M Klaver; Esther M G Jacobs; Lambertus J H van Tits; Mirian C H Janssen; Dorine W Swinkels
Journal:  Br J Haematol       Date:  2008-06-28       Impact factor: 6.998

9.  Blunted hepcidin response to oral iron challenge in HFE-related hemochromatosis.

Authors:  Alberto Piperno; Domenico Girelli; Elizabeta Nemeth; Paola Trombini; Claudia Bozzini; Erika Poggiali; Yen Phung; Tomas Ganz; Clara Camaschella
Journal:  Blood       Date:  2007-08-27       Impact factor: 22.113

10.  Hepcidin is decreased in TFR2 hemochromatosis.

Authors:  Elizabeta Nemeth; Antonella Roetto; Giovanni Garozzo; Tomas Ganz; Clara Camaschella
Journal:  Blood       Date:  2004-10-14       Impact factor: 22.113
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  5 in total

1.  Regulation of HFE expression by poly(ADP-ribose) polymerase-1 (PARP1) through an inverted repeat DNA sequence in the distal promoter.

Authors:  Christopher Pelham; Tamara Jimenez; Marianna Rodova; Angela Rudolph; Elizabeth Chipps; M Rafiq Islam
Journal:  Biochim Biophys Acta       Date:  2013-10-29

2.  Profound morphological changes in the erythrocytes and fibrin networks of patients with hemochromatosis or with hyperferritinemia, and their normalization by iron chelators and other agents.

Authors:  Etheresia Pretorius; Janette Bester; Natasha Vermeulen; Boguslaw Lipinski; George S Gericke; Douglas B Kell
Journal:  PLoS One       Date:  2014-01-09       Impact factor: 3.240

3.  The diagnostic potential of the iron-regulatory hormone hepcidin.

Authors:  Andrew E Armitage; Hal Drakesmith
Journal:  Hemasphere       Date:  2019-06-30

4.  Iron metabolism is associated with adipocyte insulin resistance and plasma adiponectin: the Cohort on Diabetes and Atherosclerosis Maastricht (CODAM) study.

Authors:  Nick Wlazlo; Marleen M J van Greevenbroek; Isabel Ferreira; Eugene H J M Jansen; Edith J M Feskens; Carla J H van der Kallen; Casper G Schalkwijk; Bert Bravenboer; Coen D A Stehouwer
Journal:  Diabetes Care       Date:  2012-09-06       Impact factor: 19.112

Review 5.  The Role of Iron and Iron Overload in Chronic Liver Disease.

Authors:  Sandra Milic; Ivana Mikolasevic; Lidija Orlic; Edita Devcic; Nada Starcevic-Cizmarevic; Davor Stimac; Miljenko Kapovic; Smiljana Ristic
Journal:  Med Sci Monit       Date:  2016-06-22
  5 in total

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