Literature DB >> 25147378

How mutant HFE causes hereditary hemochromatosis.

Martina U Muckenthaler1.   

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Year:  2014        PMID： 25147378      PMCID： PMC4141508          DOI： 10.1182/blood-2014-07-581744

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  10 in total

1.  The hemochromatosis proteins HFE, TfR2, and HJV form a membrane-associated protein complex for hepcidin regulation.

Authors:  Flavia D'Alessio; Matthias W Hentze; Martina U Muckenthaler
Journal:  J Hepatol       Date:  2012-06-21       Impact factor: 25.083

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.  Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor.

Authors:  M J Bennett; J A Lebrón; P J Bjorkman
Journal:  Nature       Date:  2000-01-06       Impact factor: 49.962

4.  Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing.

Authors:  Tapasree Goswami; Nancy C Andrews
Journal:  J Biol Chem       Date:  2006-08-07       Impact factor: 5.157

5.  HFE interacts with the BMP type I receptor ALK3 to regulate hepcidin expression.

Authors:  Xing-Gang Wu; Yang Wang; Qian Wu; Wai-Hang Cheng; Wenjing Liu; Yueshui Zhao; Claire Mayeur; Paul J Schmidt; Paul B Yu; Fudi Wang; Yin Xia
Journal:  Blood       Date:  2014-06-05       Impact factor: 22.113

6.  Defective bone morphogenic protein signaling underlies hepcidin deficiency in HFE hereditary hemochromatosis.

Authors:  John D Ryan; Eleanor Ryan; Aurelie Fabre; Matthew W Lawless; John Crowe
Journal:  Hepatology       Date:  2010-10       Impact factor: 17.425

7.  Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice.

Authors:  Andrea U Steinbicker; Thomas B Bartnikas; Lisa K Lohmeyer; Patricio Leyton; Claire Mayeur; Sonya M Kao; Alexandra E Pappas; Randall T Peterson; Donald B Bloch; Paul B Yu; Mark D Fleming; Kenneth D Bloch
Journal:  Blood       Date:  2011-08-12       Impact factor: 22.113

8.  Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis.

Authors:  Kim R Bridle; David M Frazer; Sarah J Wilkins; Jeanette L Dixon; David M Purdie; Darrell H G Crawford; V Nathan Subramaniam; Lawrie W Powell; Gregory J Anderson; Grant A Ramm
Journal:  Lancet       Date:  2003-02-22       Impact factor: 79.321

9.  Lack of the bone morphogenetic protein BMP6 induces massive iron overload.

Authors:  Delphine Meynard; Léon Kautz; Valérie Darnaud; François Canonne-Hergaux; Hélène Coppin; Marie-Paule Roth
Journal:  Nat Genet       Date:  2009-03-01       Impact factor: 38.330

10.  BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism.

Authors:  Billy Andriopoulos; Elena Corradini; Yin Xia; Sarah A Faasse; Shanzhuo Chen; Lovorka Grgurevic; Mitchell D Knutson; Antonello Pietrangelo; Slobodan Vukicevic; Herbert Y Lin; Jodie L Babitt
Journal:  Nat Genet       Date:  2009-03-01       Impact factor: 38.330
  10 in total
  7 in total

1.  The Role of Insulin Therapy in Correcting Hepcidin Levels in Patients with Type 2 Diabetes Mellitus.

Authors:  Driton Vela; Jovica Leshoski; Elizabeta S Gjorgievska; Nikola Hadzi-Petrushev; Muharrem Jakupaj; Ramadan B Sopi; Mitko Mladenov
Journal:  Oman Med J       Date:  2017-05

2.  Iron and restless legs syndrome: treatment, genetics and pathophysiology.

Authors:  James R Connor; Stephanie M Patton; Konrad Oexle; Richard P Allen
Journal:  Sleep Med       Date:  2016-11-10       Impact factor: 3.492

3.  C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease.

Authors:  S M Mahmudul Hasan; James Farrell; Mark Borgaonkar
Journal:  J Can Assoc Gastroenterol       Date:  2022-07-28

4.  The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic.

Authors:  Kathleen M Heath; Jacob H Axton; John M McCullough; Nathan Harris
Journal:  Am J Phys Anthropol       Date:  2016-01-22       Impact factor: 2.868

Review 5.  Human Leukocyte Antigen (HLA) and Immune Regulation: How Do Classical and Non-Classical HLA Alleles Modulate Immune Response to Human Immunodeficiency Virus and Hepatitis C Virus Infections?

Authors:  Nicole B Crux; Shokrollah Elahi
Journal:  Front Immunol       Date:  2017-07-18       Impact factor: 7.561

6.  Circulating iron levels influence the regulation of hepcidin following stimulated erythropoiesis.

Authors:  Cornel S G Mirciov; Sarah J Wilkins; Grace C C Hung; Sheridan L Helman; Gregory J Anderson; David M Frazer
Journal:  Haematologica       Date:  2018-06-14       Impact factor: 9.941

Review 7.  What the HLA-I!-Classical and Non-classical HLA Class I and Their Potential Roles in Type 1 Diabetes.

Authors:  Rebecca C Wyatt; Giacomo Lanzoni; Mark A Russell; Ivan Gerling; Sarah J Richardson
Journal:  Curr Diab Rep       Date:  2019-12-09       Impact factor: 4.810
  7 in total

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