Publications:

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Clinical and Molecular Aspects of Iron Metabolism in Failing Myocytes.

Life (Basel, Switzerland)

Kozłowska, Bogna B; Sochanowicz, Barbara B; Kraj, Leszek L; Palusińska, Małgorzata M; Kołsut, Piotr P; Szymański, Łukasz Ł; Lewicki, Sławomir S; Kruszewski, Marcin M; Załęska-Kocięcka, Marta M; Leszek, Przemysław P

Publication Date: 2022-08-08

Variant appearance in text: SLC40A1: C326S

PubMed Link: 36013382

Variant Present in the following documents:

• life-12-01203.pdf

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The novel SLC40A1 (T419I) variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia.

Blood Science (Baltimore, Md.)

Wu, Hongfei H; Ren, Xiang X; Ge, Meili M; Dong, Peiyuan P; Wang, Shichong S; Yi, Huiming H; Li, Xingxin X; Huo, Jiali J; Zheng, Xuan X; Gao, Mengying M; Huang, Jinbo J; Zhang, Jing J; Wang, Min M; Jin, Peng P; Nie, Neng N; Shao, Yingqi Y; Zheng, Yizhou Y

Publication Date: 2022-01

Variant appearance in text: FPN1: C326S

PubMed Link: 35399544

Variant Present in the following documents:

• Main text

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

The Application Of Clinical Genetics

Kowdley, Devan S DS; Kowdley, Kris V KV

Publication Date: 2021

Variant appearance in text: SLC11A3: C326S

PubMed Link: 34413666

Variant Present in the following documents:

• tacg-14-353.pdf

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The Multifaceted Regulation of Mitochondria in Ferroptosis.

Life (Basel, Switzerland)

Wu, Hao H; Wang, Fengli F; Ta, Na N; Zhang, Ting T; Gao, Weihua W

Publication Date: 2021-03-10

Variant appearance in text: FPN1: C326S

PubMed Link: 33801920

Variant Present in the following documents:

• Main text

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

Medicine

Wu, Ling-Yan LY; Song, Zhen-Ya ZY; Li, Qing-Hai QH; Mou, Li-Jun LJ; Yu, Ying-Ying YY; Shen, Si-Si SS; Song, Xiao-Xiao XX

Publication Date: 2021-04-02

Variant appearance in text: SLC40A1: Cys326Ser

PubMed Link: 33787609

Variant Present in the following documents:

• Main text
• medi-100-e25258.pdf

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Iron overload in aging Bmp6 mice induces exocrine pancreatic injury and fibrosis due to acinar cell loss.

International Journal Of Molecular Medicine

Pauk, Martina M; Kufner, Vera V; Rumenovic, Viktorija V; Dumic-Cule, Ivo I; Farkas, Vladimir V; Milosevic, Milan M; Bordukalo-Niksic, Tatjana T; Vukicevic, Slobodan S

Publication Date: 2021-04

Variant appearance in text: SLC40A1: C326S

PubMed Link: 33649802

Variant Present in the following documents:

• Main text
• ijmm-47-04-04893.pdf

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Hirschsprung's disease presenting as intractable anemia: a report of two cases and review of the literature.

Bmc Pediatrics

Sun, Xiaoang X; Chu, Jun J; Li, Chenchen C; Deng, Zhaohui Z

Publication Date: 2020-11-16

Variant appearance in text: FPN1: C326S

PubMed Link: 33190630

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2423.pdf

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Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms.

Nature

Billesbølle, Christian B CB; Azumaya, Caleigh M CM; Kretsch, Rachael C RC; Powers, Alexander S AS; Gonen, Shane S; Schneider, Simon S; Arvedson, Tara T; Dror, Ron O RO; Cheng, Yifan Y; Manglik, Aashish A

Publication Date: 2020-10

Variant appearance in text: SLC40A1: C326S

PubMed Link: 32814342

Variant Present in the following documents:

• nihms-1612459.pdf

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Regulation of Iron Homeostasis and Related Diseases.

Mediators Of Inflammation

Li, Yikun Y; Huang, Xiali X; Wang, Jingjing J; Huang, Ruiling R; Wan, Dan D

Publication Date: 2020

Variant appearance in text: SLC40A1: C326S

PubMed Link: 32454791

Variant Present in the following documents:

• Main text
• MI2020-6062094.pdf

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From Rust to Quantum Biology: The Role of Iron in Retina Physiopathology.

Cells

Picard, Emilie E; Daruich, Alejandra A; Youale, Jenny J; Courtois, Yves Y; Behar-Cohen, Francine F

Publication Date: 2020-03-13

Variant appearance in text: SLC40A1: C326S

PubMed Link: 32183063

Variant Present in the following documents:

• Main text

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

Pharmaceuticals (Basel, Switzerland)

Vlasveld, L Tom LT; Janssen, Roel R; Bardou-Jacquet, Edouard E; Venselaar, Hanka H; Hamdi-Roze, Houda H; Drakesmith, Hal H; Swinkels, Dorine W DW

Publication Date: 2019-09-09

Variant appearance in text: SLC40A1: Cys326Ser

PubMed Link: 31505869

Variant Present in the following documents:

• Main text
• pharmaceuticals-12-00132.pdf

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Inherited Disorders of Iron Overload.

Frontiers In Nutrition

Pantopoulos, Kostas K

Publication Date: 2018

Variant appearance in text: SLC40A1: C326S

PubMed Link: 30420953

Variant Present in the following documents:

• Main text
• fnut-05-00103.pdf

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Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions.

Haematologica

Vlasveld, L Tom LT; Swinkels, Dorine W DW

Publication Date: 2018-11

Variant appearance in text: SLC40A1: Cys326Ser

PubMed Link: 30381414

Variant Present in the following documents:

• Main text

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Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica

Pietrangelo, Antonello A

Publication Date: 2017-12

Variant appearance in text: FPN1: C326S

PubMed Link: 29101207

Variant Present in the following documents:

• Main text
• 1021972.pdf

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Human macrophage ferroportin biology and the basis for the ferroportin disease.

Hepatology (Baltimore, Md.)

Sabelli, Manuela M; Montosi, Giuliana G; Garuti, Cinzia C; Caleffi, Angela A; Oliveto, Stefania S; Biffo, Stefano S; Pietrangelo, Antonello A

Publication Date: 2017-05

Variant appearance in text: FPN1: C326S

PubMed Link: 28027576

Variant Present in the following documents:

• Main text

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Ceruloplasmin-ferroportin system of iron traffic in vertebrates.

World Journal Of Biological Chemistry

Musci, Giovanni G; Polticelli, Fabio F; Bonaccorsi di Patti, Maria Carmela MC

Publication Date: 2014-05-26

Variant appearance in text: SLC40A1: C326S

PubMed Link: 24921009

Variant Present in the following documents:

• Main text

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Non-HFE hemochromatosis.

Revista Brasileira De Hematologia E Hemoterapia

Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC

Publication Date: 2012

Variant appearance in text: SLC40A1: Cys326Ser

PubMed Link: 23049448

Variant Present in the following documents:

• Main text
• rbhh-34-311.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: SLC40A1: Cys326Ser

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: SLC40A1: Cys326Ser

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Hepcidin and ferroportin: the new players in iron metabolism.

Seminars In Liver Disease

De Domenico, Ivana I; Ward, Diane McVey DM; Kaplan, Jerry J

Publication Date: 2011-08

Variant appearance in text: FPN1: C326S

PubMed Link: 21901657

Variant Present in the following documents:

• Main text

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Ferroportin and erythroid cells: an update.

Advances In Hematology

Cianetti, Luciano L; Gabbianelli, Marco M; Sposi, Nadia Maria NM

Publication Date: 2010

Variant appearance in text: FPN1: C326S

PubMed Link: 20827391

Variant Present in the following documents:

• AH2010-404173.pdf

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

Journal Of Hepatology

Mayr, Roman R; Janecke, Andreas R AR; Schranz, Melanie M; Griffiths, William J H WJ; Vogel, Wolfgang W; Pietrangelo, Antonello A; Zoller, Heinz H

Publication Date: 2010-11

Variant appearance in text: SLC40A1: C326S

PubMed Link: 20691492

Variant Present in the following documents:

• Main text

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Hereditary hemochromatosis due to resistance to hepcidin: high hepcidin concentrations in a family with C326S ferroportin mutation.

Blood

Sham, Ronald L RL; Phatak, Pradyumna D PD; Nemeth, Elizabeta E; Ganz, Tomas T

Publication Date: 2009-07-09

Variant appearance in text: SLC40A1: C326S

PubMed Link: 19589941

Variant Present in the following documents:

• Main text

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The molecular basis of hepcidin-resistant hereditary hemochromatosis.

Blood

Fernandes, Augustine A; Preza, Gloria C GC; Phung, Yen Y; De Domenico, Ivana I; Kaplan, Jerry J; Ganz, Tomas T; Nemeth, Elizabeta E

Publication Date: 2009-07-09

Variant appearance in text: SLC40A1: C326S

PubMed Link: 19383972

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• Main text

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Investigation of the biophysical and cell biological properties of ferroportin, a multipass integral membrane protein iron exporter.

Journal Of Molecular Biology

Rice, Adrian E AE; Mendez, Michael J MJ; Hokanson, Craig A CA; Rees, Douglas C DC; Björkman, Pamela J PJ

Publication Date: 2009-02-27

Variant appearance in text: IREG1: C326S

PubMed Link: 19150361

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• Main text

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Wild-type and mutant ferroportins do not form oligomers in transfected cells.

The Biochemical Journal

Gonçalves, Ana Sofia AS; Muzeau, Françoise F; Blaybel, Rand R; Hetet, Gilles G; Driss, Fathi F; Delaby, Constance C; Canonne-Hergaux, François F; Beaumont, Carole C

Publication Date: 2006-06-01

Variant appearance in text: MTP1: C326S

PubMed Link: 16457665

Variant Present in the following documents:

• Main text

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