SLC40A1 c.430A>C ;(p.N144H)

Variant ID: 2-190436525-T-G

NM_014585.5(SLC40A1):c.430A>C;(p.N144H)

This variant was identified in 33 publications

View GRCh38 version.




Publications:


Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs104893662
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.pdf
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Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.

American Journal Of Cancer Research
Schneeweiss-Gleixner, Mathias M; Greiner, Georg G; Herndlhofer, Susanne S; Schellnegger, Julia J; Krauth, Maria-Theresa MT; Gleixner, Karoline V KV; Wimazal, Friedrich F; Steinhauser, Corinna C; Kundi, Michael M; Thalhammer, Renate R; Schwarzinger, Ilse I; Hoermann, Gregor G; Esterbauer, Harald H; Födinger, Manuela M; Valent, Peter P; Sperr, Wolfgang R WR
Publication Date: 2021

Variant appearance in text: FPN1: N144H
PubMed Link: 33791166
Variant Present in the following documents:
  • Main text
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Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: rs104893662
PubMed Link: 33170161
Variant Present in the following documents:
  • Main text
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Iron Metabolism in Ferroptosis.

Frontiers In Cell And Developmental Biology
Chen, Xin X; Yu, Chunhua C; Kang, Rui R; Tang, Daolin D
Publication Date: 2020

Variant appearance in text: SLC40A1: N144H
PubMed Link: 33117818
Variant Present in the following documents:
  • Main text
  • fcell-08-590226.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: N144H
PubMed Link: 32814342
Variant Present in the following documents:
  • nihms-1612459.pdf
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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: FPN1: Asn144His
PubMed Link: 31505869
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-12-00132.pdf
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The ferroportin disease.

Clinical Liver Disease
Pietrangelo, Antonello A
Publication Date: 2014-05

Variant appearance in text: SLC40A1: N144H
PubMed Link: 30992897
Variant Present in the following documents:
  • Main text
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Inherited Disorders of Iron Overload.

Frontiers In Nutrition
Pantopoulos, Kostas K
Publication Date: 2018

Variant appearance in text: SLC40A1: N144H
PubMed Link: 30420953
Variant Present in the following documents:
  • Main text
  • fnut-05-00103.pdf
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The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism.

Haematologica
Ka, Chandran C; Guellec, Julie J; Pepermans, Xavier X; Kannengiesser, Caroline C; Ged, Cécile C; Wuyts, Wim W; Cassiman, David D; de Ledinghen, Victor V; Varet, Bruno B; de Kerguenec, Caroline C; Oudin, Claire C; Gourlaouen, Isabelle I; Lefebvre, Thibaud T; Férec, Claude C; Callebaut, Isabelle I; Le Gac, Gérald G
Publication Date: 2018-11

Variant appearance in text: FPN1: Asn144His
PubMed Link: 30002125
Variant Present in the following documents:
  • Main text
  • 1031796.pdf
View BVdb publication page



Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica
Pietrangelo, Antonello A
Publication Date: 2017-12

Variant appearance in text: FPN1: N144H
PubMed Link: 29101207
Variant Present in the following documents:
  • Main text
  • 1021972.pdf
View BVdb publication page



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: N144H
PubMed Link: 28027576
Variant Present in the following documents:
  • Main text
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Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Blood Transfusion = Trasfusione Del Sangue
Ferbo, Ludovica L; Manzini, Paola M PM; Badar, Sadaf S; Campostrini, Natascia N; Ferrarini, Alberto A; Delledonne, Massimo M; Francisci, Tiziana T; Tassi, Valter V; Valfrè, Adriano A; Dall'omo, Anna M AM; D'antico, Sergio S; Girelli, Domenico D; Roetto, Antonella A; De Gobbi, Marco M
Publication Date: 2016-11

Variant appearance in text: SLC40A1: N144H
PubMed Link: 27177411
Variant Present in the following documents:
  • Main text
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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: SLC40A1: N144H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
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Ferroportin-related haemochromatosis associated with novel Y64H mutation of the SCL40A1 gene.

Przeglad Gastroenterologiczny
Raszeja-Wyszomirska, Joanna J; Caleffi, Angela A; Milkiewicz, Piotr P; Pietrangelo, Antonello A
Publication Date: 2014

Variant appearance in text: SLC40A1: N144H
PubMed Link: 25396007
Variant Present in the following documents:
  • Main text
  • PG-9-23748.pdf
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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: N144H
PubMed Link: 24921009
Variant Present in the following documents:
  • Main text
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Zebrafish in the sea of mineral (iron, zinc, and copper) metabolism.

Frontiers In Pharmacology
Zhao, Lu L; Xia, Zhidan Z; Wang, Fudi F
Publication Date: 2014

Variant appearance in text: FPN1: N144H
PubMed Link: 24639652
Variant Present in the following documents:
  • Main text
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Hepcidin-minireview.

Journal Of Clinical And Diagnostic Research : Jcdr
Palaneeswari M, Subha S; Ganesh, M M; Karthikeyan, T T; Devi, A J Manjula AJ; Mythili, S V SV
Publication Date: 2013-08

Variant appearance in text: FPN1: N144H
PubMed Link: 24086909
Variant Present in the following documents:
  • Main text
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Nitric oxide-mediated regulation of ferroportin-1 controls macrophage iron homeostasis and immune function in Salmonella infection.

The Journal Of Experimental Medicine
Nairz, Manfred M; Schleicher, Ulrike U; Schroll, Andrea A; Sonnweber, Thomas T; Theurl, Igor I; Ludwiczek, Susanne S; Talasz, Heribert H; Brandacher, Gerald G; Moser, Patrizia L PL; Muckenthaler, Martina U MU; Fang, Ferric C FC; Bogdan, Christian C; Weiss, Günter G
Publication Date: 2013-05-06

Variant appearance in text: FPN1: N144H
PubMed Link: 23630227
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: Asn144His
PubMed Link: 23049448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
Zamani, Farhad F; Bagheri, Zohreh Z; Bayat, Maryam M; Fereshtehnejad, Seyed-Mohammad SM; Basi, Ali A; Najmabadi, Hossein H; Ajdarkosh, Hossein H
Publication Date: 2012-10

Variant appearance in text: FPN1: N144H
PubMed Link: 23018356
Variant Present in the following documents:
  • Main text
  • medscimonit-18-10-cr622.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: Asn144His
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: Asn144His
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page



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: N144H
PubMed Link: 20691492
Variant Present in the following documents:
  • Main text
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Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil)
Bittencourt, Paulo Lisboa PL; Marin, Maria Lúcia Carnevale ML; Couto, Cláudia Alves CA; Cançado, Eduardo Luiz Rachid EL; Carrilho, Flair José FJ; Goldberg, Anna Carla AC
Publication Date: 2009

Variant appearance in text: SLC40A1: N144H
PubMed Link: 19759876
Variant Present in the following documents:
  • cln64_9p837.pdf
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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: N144H
PubMed Link: 19383972
Variant Present in the following documents:
  • 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: N144H
PubMed Link: 19150361
Variant Present in the following documents:
  • Main text
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Non-HFE haemochromatosis.

World Journal Of Gastroenterology
Wallace, Daniel-F DF; Subramaniam, V-Nathan VN
Publication Date: 2007-09-21

Variant appearance in text: MTP1: N144H
PubMed Link: 17729390
Variant Present in the following documents:
  • Main text
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SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent.

Blood Cells, Molecules & Diseases
Barton, James C JC; Acton, Ronald T RT; Lee, Pauline L PL; West, Carol C
Publication Date: 2007

Variant appearance in text: SLC40A1: N144H
PubMed Link: 17490902
Variant Present in the following documents:
  • Main text
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Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.

Gut
Sartori, Massimo M; Andorno, Silvano S; Pagliarulo, Michela M; Rigamonti, Cristina C; Bozzola, Cristina C; Pergolini, Patrizia P; Rolla, Roberta R; Suno, Anna A; Boldorini, Renzo R; Bellomo, Giorgio G; Albano, Emanuele E
Publication Date: 2007-05

Variant appearance in text: FPN1: N144H
PubMed Link: 17135308
Variant Present in the following documents:
  • Main text
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Evidence for the multimeric structure of ferroportin.

Blood
De Domenico, Ivana I; Ward, Diane McVey DM; Musci, Giovanni G; Kaplan, Jerry J
Publication Date: 2007-03-01

Variant appearance in text: SLC40A1: N144H
PubMed Link: 17077321
Variant Present in the following documents:
  • 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: N144H
PubMed Link: 16457665
Variant Present in the following documents:
  • Main text
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The molecular basis of ferroportin-linked hemochromatosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
De Domenico, Ivana I; Ward, Diane McVey DM; Nemeth, Elizabeta E; Vaughn, Michael B MB; Musci, Giovanni G; Ganz, Tomas T; Kaplan, Jerry J
Publication Date: 2005-06-21

Variant appearance in text: SLC40A1: N144H
PubMed Link: 15956209
Variant Present in the following documents:
  • Main text
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A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient.

Gut
Arden, K E KE; Wallace, D F DF; Dixon, J L JL; Summerville, L L; Searle, J W JW; Anderson, G J GJ; Ramm, G A GA; Powell, L W LW; Subramaniam, V N VN
Publication Date: 2003-08

Variant appearance in text: MTP1: N144H
PubMed Link: 12865285
Variant Present in the following documents:
  • Main text
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Ferroportin mutation in autosomal dominant hemochromatosis: loss of function, gain in understanding.

The Journal Of Clinical Investigation
Fleming, R E RE; Sly, W S WS
Publication Date: 2001-08

Variant appearance in text: SLC11A3: N144H
PubMed Link: 11518724
Variant Present in the following documents:
  • Main text
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