Publications:

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Interpreting Iron Homeostasis in Congenital and Acquired Disorders.

Pharmaceuticals (Basel, Switzerland)

Scaramellini, Natalia N; Fischer, Dania D; Agarvas, Anand R AR; Motta, Irene I; Muckenthaler, Martina U MU; Mertens, Christina C

Publication Date: 2023-02-21

Variant appearance in text: TFR2: E60X

PubMed Link: 36986429

Variant Present in the following documents:

• pharmaceuticals-16-00329.pdf

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Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine

Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA

Publication Date: 2023-01-17

Variant appearance in text: TFR2: E60*

PubMed Link: 36652909

Variant Present in the following documents:

• mmc3.xlsx, sheet 23

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New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes

Hernández, Gonzalo G; Ferrer-Cortès, Xenia X; Venturi, Veronica V; Musri, Melina M; Pilquil, Martin Floor MF; Torres, Pau Marc Muñoz PMM; Rodríguez, Ines Hernandez IH; Mínguez, Maria Àngels Ruiz MÀR; Kelleher, Nicholas J NJ; Pelucchi, Sara S; Piperno, Alberto A; Alberca, Esther Plensa EP; Ricós, Georgina Gener GG; Giró, Eloi Cañamero EC; Pérez-Montero, Santiago S; Tornador, Cristian C; Villà-Freixa, Jordi J; Sánchez, Mayka M

Publication Date: 2021-12-13

Variant appearance in text: TFR2: Glu60Ter

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

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New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes

Hernández, Gonzalo G; Ferrer-Cortès, Xenia X; Venturi, Veronica V; Musri, Melina M; Pilquil, Martin Floor MF; Torres, Pau Marc Muñoz PMM; Rodríguez, Ines Hernandez IH; Mínguez, Maria Àngels Ruiz MÀR; Kelleher, Nicholas J NJ; Pelucchi, Sara S; Piperno, Alberto A; Alberca, Esther Plensa EP; Ricós, Georgina Gener GG; Giró, Eloi Cañamero EC; Pérez-Montero, Santiago S; Tornador, Cristian C; Villà-Freixa, Jordi J; Sánchez, Mayka M

Publication Date: 2021-12-13

Variant appearance in text: TFR2: Glu60Ter

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

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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: TFR2: E60X

PubMed Link: 34413666

Variant Present in the following documents:

• Main text
• tacg-14-353.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: TFR2: E60X

PubMed Link: 33791166

Variant Present in the following documents:

• Main text

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: TFR2: 178G>T; Glu60*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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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: TFR2: E60X

PubMed Link: 27177411

Variant Present in the following documents:

• Main text

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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: TFR2: E60X

PubMed Link: 23018356

Variant Present in the following documents:

• Main text
• medscimonit-18-10-cr622.pdf

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Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2.

Haematologica

Pelucchi, Sara S; Mariani, Raffaella R; Trombini, Paola P; Coletti, Sabina S; Pozzi, Matteo M; Paolini, Valentina V; Barisani, Donatella D; Piperno, Alberto A

Publication Date: 2009-02

Variant appearance in text: TFR2: E60X

PubMed Link: 19144662

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: TFR2: E60X

PubMed Link: 17135308

Variant Present in the following documents:

• Main text

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Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fleming, Robert E RE; Ahmann, John R JR; Migas, Mary C MC; Waheed, Abdul A; Koeffler, H Phillip HP; Kawabata, Hiroshi H; Britton, Robert S RS; Bacon, Bruce R BR; Sly, William S WS

Publication Date: 2002-08-06

Variant appearance in text: TFR2: E60X

PubMed Link: 12134060

Variant Present in the following documents:

• Main text

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