Literature DB >> 12707220

The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.

Ernest Beutler1.   

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Year:  2003        PMID: 12707220     DOI: 10.1182/blood-2002-06-1747

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


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  11 in total

1.  Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients.

Authors:  C A McCune; D Ravine; K Carter; H A Jackson; D Hutton; J Hedderich; M Krawczak; M Worwood
Journal:  Gut       Date:  2005-09-20       Impact factor: 23.059

2.  Iron dysregulation combined with aging prevents sepsis-induced apoptosis.

Authors:  Pardis Javadi; Timothy G Buchman; Paul E Stromberg; Isaiah R Turnbull; Dinesh Vyas; Richard S Hotchkiss; Irene E Karl; Craig M Coopersmith
Journal:  J Surg Res       Date:  2005-09       Impact factor: 2.192

3.  An Ultrasensitive Magnetoelectric Sensor System For the Quantitative Detection of Liver Iron.

Authors:  Hao Xi; Meng-Chien Lu; Xiaoshi Qian; Q M Zhang; Sebastian Rupprecht; Qing X Yang
Journal:  Proc IEEE Sens       Date:  2017-01-09

Review 4.  Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Authors:  David N Cooper; Michael Krawczak; Constantin Polychronakos; Chris Tyler-Smith; Hildegard Kehrer-Sawatzki
Journal:  Hum Genet       Date:  2013-07-03       Impact factor: 4.132

5.  Clinical penetrance of C282Y homozygous HFE haemochromatosis.

Authors:  Enrico Rossi; Gary P Jeffrey
Journal:  Clin Biochem Rev       Date:  2004-08

6.  Intestinal hypoxia-inducible transcription factors are essential for iron absorption following iron deficiency.

Authors:  Yatrik M Shah; Tsutomu Matsubara; Shinji Ito; Sun-Hee Yim; Frank J Gonzalez
Journal:  Cell Metab       Date:  2009-01-15       Impact factor: 27.287

7.  Structure of the membrane proximal oxidoreductase domain of human Steap3, the dominant ferrireductase of the erythroid transferrin cycle.

Authors:  Anoop K Sendamarai; Robert S Ohgami; Mark D Fleming; C Martin Lawrence
Journal:  Proc Natl Acad Sci U S A       Date:  2008-05-21       Impact factor: 11.205

8.  Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.

Authors:  Shayne D Wierbowski; Robert Fragoza; Siqi Liang; Haiyuan Yu
Journal:  Curr Opin Syst Biol       Date:  2018-09-17

Review 9.  Intermediate phenotypes in schizophrenia: a selective review.

Authors:  Gilbert A Preston; Daniel R Weinberger
Journal:  Dialogues Clin Neurosci       Date:  2005       Impact factor: 5.986

Review 10.  METABOLISM OF IRON STORES.

Authors:  Hiroshi Saito
Journal:  Nagoya J Med Sci       Date:  2014-08       Impact factor: 1.131

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