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Literature DB >> 16204153

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.

Graça Porto, Antonella Roetto, Filomena Daraio, Jorge Pereira Pinto, Susana Almeida, Conceição Bacelar, Elizabeth Nemeth, Tomas Ganz, Clara Camaschella.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2005 PMID： 16204153 DOI： 10.1182/blood-2005-04-1630

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

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8 in total

Review 1. Genetic variation in hepcidin expression and its implications for phenotypic differences in iron metabolism.

Authors: Henry K Bayele; Surjit Kaila S Srai
Journal: Haematologica Date: 2009-09 Impact factor: 9.941

2. A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.

Authors: Marie-Laure Island; Anne-Marie Jouanolle; Annick Mosser; Yves Deugnier; Véronique David; Pierre Brissot; Olivier Loréal
Journal: Haematologica Date: 2009-03-13 Impact factor: 9.941

3. Non-HFE hemochromatosis.

Authors: Paulo Caleb Júnior de Lima Santos; Carla Luana Dinardo; Rodolfo Delfini Cançado; Isolmar Tadeu Schettert; José Eduardo Krieger; Alexandre Costa Pereira
Journal: Rev Bras Hematol Hemoter Date: 2012

Review 4. Non-HFE haemochromatosis.

Authors: Daniel-F Wallace; V-Nathan Subramaniam
Journal: World J Gastroenterol Date: 2007-09-21 Impact factor: 5.742

Review 5. Ethnic Differences in Iron Status.

Authors: Wanhui Kang; Alexa Barad; Andrew G Clark; Yiqin Wang; Xu Lin; Zhenglong Gu; Kimberly O O'Brien
Journal: Adv Nutr Date: 2021-10-01 Impact factor: 8.701

A Portuguese patient homozygous for the -25G>A mutation of the HAMP promoter shows evidence of steady-state transcription but fails to up-regulate hepcidin levels by iron.

Review 1. Genetic variation in hepcidin expression and its implications for phenotypic differences in iron metabolism.

2. A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis.

3. Non-HFE hemochromatosis.

Review 4. Non-HFE haemochromatosis.

Review 5. Ethnic Differences in Iron Status.

Review 6. Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

7. Dietary iron interacts with genetic background to influence glucose homeostasis.

Review 8. Ironing out the Details: Untangling Dietary Iron and Genetic Background in Diabetes.