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Select item 83692261.

Appropriate Clinical Genetic Testing of Hemochromatosis Type 2–4, Including Ferroportin Disease

Devan S Kowdley, Kris V Kowdley

Appl Clin Genet. 2021; 14: 353–361. Published online 2021 Aug 12. doi: 10.2147/TACG.S269622

PMCID:: PMC8369226

Article PDF–542K

Select item 79343812.

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

Article PDF–2.7M

Select item 78386363.

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

Article PDF–2.4M

Select item 74962784.

Reduced iron export associated with hepcidin resistance can explain the iron overload spectrum in ferroportin disease

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

Article PDF–1.2M

Select item 67897805.

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features

L. Tom Vlasveld, Roel Janssen, Edouard Bardou-Jacquet, Hanka Venselaar, Houda Hamdi-Roze, Hal Drakesmith, Dorine W. Swinkels

Pharmaceuticals (Basel) 2019 Sep; 12(3): 132. Published online 2019 Sep 9. doi: 10.3390/ph12030132

PMCID:: PMC6789780

Article PDF–3.8M

Select item 63386386.

Ferroportin disease mutations influence manganese accumulation and cytotoxicity

Eun-Kyung Choi, Trang-Tiffany Nguyen, Shigeki Iwase, Young Ah Seo

FASEB J. 2019 Feb; 33(2): 2228–2240. Published online 2018 Sep 24. doi: 10.1096/fj.201800831R

PMCID:: PMC6338638

Article

Select item 62078107.

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

Article PDF–1.2M

Select item 57090968.

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

Article PDF–1.6M

Select item 54138599.

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

Article PDF–922K

Select item 295683010.

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

Article

Select item 260596911.

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

Article PDF–3.3M

Select item 188550212.

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

Article

Select item 627897513.

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

Article PDF–1.4M

Select item 300285214.

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

Article PDF–550K

Select item 802131815.

Iron chelators reverse organ damage in type 4B hereditary hemochromatosis: Case reports

Ling-yan Wu, Zhen-ya Song, Qing-hai Li, Li-jun Mou, Ying-ying Yu, Si-si Shen, Xiao-xiao Song

Medicine (Baltimore) 2021 Apr 2; 100(13): e25258. Published online 2021 Apr 2. doi: 10.1097/MD.0000000000025258

PMCID:: PMC8021318

Article PDF–545K

Select item 772753616.

Inherited microcytic anemias

Maria Domenica Cappellini, Roberta Russo, Immacolata Andolfo, Achille Iolascon

Hematology Am Soc Hematol Educ Program. 2020 Dec 4; 2020(1): 465–470. doi: 10.1182/hematology.2020000158

PMCID:: PMC7727536

Article PDF–766K

Select item 720156517.

Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays

Gautam Rishi, Eriza S. Secondes, Daniel F. Wallace, V. Nathan Subramaniam

Biosci Rep. 2020 May 29; 40(5): BSR20191499. Published online 2020 May 5. doi: 10.1042/BSR20191499

PMCID:: PMC7201565

Article PDF–1.5M

Select item 582433618.

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