PMC Articles for MedGen (Select 340044) - PMC

André Viveiros, Marlene Panzer, Nadja Baumgartner, Benedikt Schaefer, Armin Finkenstedt, Benjamin Henninger, Igor Theurl, Karin Nachbaur, Günter Weiss, Roland Haubner, Clemens Decristoforo, Herbert Tilg, Heinz Zoller

Liver Int. 2020 Aug; 40(8): 1941–1951. Published online 2020 Jun 12. doi: 10.1111/liv.14539

PMCID:: PMC7496278

Abstract Article PDF–1.2M

Select item 62078105.

A 10-year Follow-up Study of a Japanese Family with Ferroportin Disease A: Mild Iron Overload with Mild Hyperferritinemia Co-occurring with Hyperhepcidinemia May Be Benign

Hisao Hayashi, Motoyoshi Yano, Naohito Urawa, Akane Mizutani, Shima Hamaoka, Jun Araki, Yuji Kojima, Yutaka Naito, Ayako Kato, Yasuaki Tatsumi, Koichi Kato

Intern Med. 2018 Oct 1; 57(19): 2865–2871. Published online 2018 May 18. doi: 10.2169/internalmedicine.0481-17

PMCID:: PMC6207810

Abstract Article PDF–1.2M

Select item 26059696.

Clinical, Pathological, and Molecular Correlates in Ferroportin Disease. A Study Of Two Novel Mutations

Domenico Girelli, Ivana De Domenico, Claudia Bozzini, Natascia Campostrini, Fabiana Busti, Annalisa Castagna, Nadia Soriani, Laura Cremonesi, Maurizio Ferrari, Romano Colombari, Diane McVey Ward, Jerry Kaplan, Roberto Corrocher

J Hepatol. Author manuscript; available in PMC 2009 Oct 1.

Published in final edited form as: J Hepatol. 2008 Oct; 49(4): 664–671. Published online 2008 Jul 17. doi: 10.1016/j.jhep.2008.05.028

PMCID:: PMC2605969

Abstract Article PDF–3.3M

Select item 29568307.

Ferroportin disease: A systematic meta-analysis of clinical and molecular findings

Roman Mayr, Andreas R. Janecke, Melanie Schranz, William J.H. Griffiths, Wolfgang Vogel, Antonello Pietrangelo, Heinz Zoller

J Hepatol. 2010 Nov; 53(5-3): 941–949. doi: 10.1016/j.jhep.2010.05.016

Correction in:: J Hepatol. 2011 Sep; 55(3): 734–736.

PMCID:: PMC2956830

Abstract Article

Select item 78386368.

Mild Attenuation of the Pulmonary Inflammatory Response in a Mouse Model of Hereditary Hemochromatosis Type 4

Oriana Marques, Joana Neves, Natalie K. Horvat, Sandro Altamura, Martina U. Muckenthaler

Front Physiol. 2020; 11: 589351. Published online 2021 Jan 13. doi: 10.3389/fphys.2020.589351

PMCID:: PMC7838636

Abstract Article PDF–2.4M

Select item 79343819.

Long-term phlebotomy successfully alleviated hepatic iron accumulation in a ferroportin disease patient with a mutation in SLC40A1: a case report

Sohji Nishina, Yasuyuki Tomiyama, Katsuya Ikuta, Yasuaki Tatsumi, Yasumichi Toki, Ayako Kato, Koichi Kato, Naoko Yoshioka, Kyo Sasaki, Yuichi Hara, Keisuke Hino

BMC Gastroenterol. 2021; 21: 111. Published online 2021 Mar 5. doi: 10.1186/s12876-021-01674-z

PMCID:: PMC7934381

Abstract Article PDF–2.7M

Select item 1144292110.

A 70-year-old Woman with Asymptomatic Ferroportin Disease

Tetsuya Ishikawa, Yasuaki Tatsumi, Koichi Kato, Yumi Hayashi, Norihiro Imai, Takanori Ito, Yoji Ishizu, Masatoshi Ishigami, Wataru Nihei, Ayako Kato, Hisao Hayashi

Intern Med. 2024 Sep 1; 63(17): 2421–2425. Published online 2024 Feb 1. doi: 10.2169/internalmedicine.2392-23

PMCID:: PMC11442921

Abstract Article PDF–1.4M

Select item 570909611.

Ferroportin disease: pathogenesis, diagnosis and treatment

Antonello Pietrangelo

Haematologica. 2017 Dec; 102(12): 1972–1984. Prepublished online 2017 Nov 3. doi: 10.3324/haematol.2017.170720

PMCID:: PMC5709096

Abstract Article PDF–1.6M

Select item 541385912.

Human macrophage ferroportin biology and the basis for the ferroportin disease

Manuela Sabelli, Giuliana Montosi, Cinzia Garuti, Angela Caleffi, Stefania Oliveto, Stefano Biffo, Antonello Pietrangelo

Hepatology. 2017 May; 65(5): 1512–1525. Published online 2017 Mar 22. doi: 10.1002/hep.29007

PMCID:: PMC5413859

Abstract Article PDF–922K

Select item 188550213.

The flatiron mutation in mouse ferroportin acts as a dominant negative to cause ferroportin disease

Irene E. Zohn, Ivana De Domenico, Andrew Pollock, Diane McVey Ward, Jessica F. Goodman, Xiayun Liang, Amaru J. Sanchez, Lee Niswander, Jerry Kaplan

Blood. 2007 May 15; 109(10): 4174–4180. Prepublished online 2007 Feb 8. doi: 10.1182/blood-2007-01-066068

PMCID:: PMC1885502

Abstract Article

Select item 547820614.

Disruption of the Hepcidin/Ferroportin Regulatory System Causes Pulmonary Iron Overload and Restrictive Lung Disease

Joana Neves, Dominik Leitz, Simone Kraut, Christina Brandenberger, Raman Agrawal, Norbert Weissmann, Christian Mühlfeld, Marcus A. Mall, Sandro Altamura, Martina U. Muckenthaler

EBioMedicine. 2017 Jun; 20: 230–239. Published online 2017 Apr 29. doi: 10.1016/j.ebiom.2017.04.036

PMCID:: PMC5478206

Abstract Article PDF–1.1M

Select item 627897515.

The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism

Chandran Ka, Julie Guellec, Xavier Pepermans, Caroline Kannengiesser, Cécile Ged, Wim Wuyts, David Cassiman, Victor de Ledinghen, Bruno Varet, Caroline de Kerguenec, Claire Oudin, Isabelle Gourlaouen, Thibaud Lefebvre, Claude Férec, Isabelle Callebaut, Gérald Le Gac

Haematologica. 2018 Nov; 103(11): 1796–1805. Prepublished online 2018 Jul 12. doi: 10.3324/haematol.2018.189845

PMCID:: PMC6278975

Abstract Article PDF–1.4M

Select item 300285216.

Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency

Janine Meienberg, Marianne Rohrbach, Stefan Neuenschwander, Katharina Spanaus, Cecilia Giunta, Sira Alonso, Eliane Arnold, Caroline Henggeler, Stephan Regenass, Andrea Patrignani, Silvia Azzarello-Burri, Bernhard Steiner, Anders OH Nygren, Thierry Carrel, Beat Steinmann, Gábor Mátyás

Eur J Hum Genet. 2010 Dec; 18(12): 1315–1321. Published online 2010 Jul 21. doi: 10.1038/ejhg.2010.105

PMCID:: PMC3002852

Abstract Article PDF–550K

Select item 582433617.

Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin

Sharraya Aschemeyer, Bo Qiao, Deborah Stefanova, Erika V. Valore, Albert C. Sek, T. Alex Ruwe, Kyle R. Vieth, Grace Jung, Carla Casu, Stefano Rivella, Mika Jormakka, Bryan Mackenzie, Tomas Ganz, Elizabeta Nemeth

Blood. 2018 Feb 22; 131(8): 899–910. Prepublished online 2017 Dec 13. doi: 10.1182/blood-2017-05-786590