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Items: 1 to 20 of 64

1.
Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3
Ricky Joshi, Maya Shvartsman, Erica Morán, Sergi Lois, Jessica Aranda, Anna Barqué, Xavier de la Cruz, Miquel Bruguera, José Manuel Vagace, Guillermo Gervasini, Cristina Sanz, Mayka Sánchez
Mol Genet Genomic Med. 2015 May; 3(3): 221–232. Published online 2015 Mar 6. doi: 10.1002/mgg3.136
PMCID:
PMC4444164
ArticlePubReaderPDF–1.1MCite
2.
The second transferrin receptor regulates red blood cell production in mice
Antonella Nai, Maria Rosa Lidonnici, Marco Rausa, Giacomo Mandelli, Alessia Pagani, Laura Silvestri, Giuliana Ferrari, Clara Camaschella
Blood. 2015 Feb 12; 125(7): 1170–1179. Prepublished online 2014 Dec 11. doi: 10.1182/blood-2014-08-596254
PMCID:
PMC4399753
ArticlePubReaderCite
3.
Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review
Jubran Alqanatish, Banan Alsowailmi, Haneen Alfarhan, Albandari Alhamzah, Talal Alharbi
Open Access Rheumatol. 2021; 13: 15–21. Published online 2021 Jan 15. doi: 10.2147/OARRR.S276112
PMCID:
PMC7815067
ArticlePubReaderPDF–522KCite
4.
The Functional Versatility of Transferrin Receptor 2 and Its Therapeutic Value
Antonella Roetto, Mariarosa Mezzanotte, Rosa Maria Pellegrino
Pharmaceuticals (Basel) 2018 Dec; 11(4): 115. Published online 2018 Oct 23. doi: 10.3390/ph11040115
PMCID:
PMC6316356
ArticlePubReaderPDF–2.6MCite
5.
The effect of the flavonol rutin on serum and liver iron content in a genetic mouse model of iron overload
Zachary J. Hawula, Eriza S. Secondes, Daniel F. Wallace, Gautam Rishi, V. Nathan Subramaniam
Biosci Rep. 2021 Jul 30; 41(7): BSR20210720. Published online 2021 Jul 9. doi: 10.1042/BSR20210720
PMCID:
PMC8273376
ArticlePubReaderPDF–905KCite
6.
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes
Ruwangi Dissanayake, Nayana Samarasinghe, Samantha Waidyanatha, Sajeewani Pathirana, Nilaksha Neththikumara, Vajira H. W. Dissanayake, Kalum Wetthasinghe, Lallindra Gooneratne, Pujitha Wickramasinghe
BMC Pediatr. 2022; 22: 344. Published online 2022 Jun 15. doi: 10.1186/s12887-022-03191-8
PMCID:
PMC9199146
ArticlePubReaderPDF–977KCite
7.
Evaluation of the Association of Transferrin Receptor Type 2 Gene Mutation (Y250X) with Iron Overload in Major β- Thalassemia
Abdulmalek Jaafar J, Al-Rashedi N. A. M
Arch Razi Inst. 2021 Nov; 76(5): 1551–1554. Published online 2021 Nov 30. doi: 10.22092/ari.2021.356166.1793
PMCID:
PMC8934061
ArticlePubReaderPDF–294KCite
8.
A farewell to phlebotomy—use of placenta-derived drugs Laennec and Porcine for improving hereditary hemochromatosis without phlebotomy: a case report
Yuki Hamada, Eiichi Hirano, Koji Sugimoto, Keizo Hanada, Taiichi Kaku, Naoki Manda, Kenichi Tsuchida
J Med Case Rep. 2022; 16: 26. Published online 2022 Jan 23. doi: 10.1186/s13256-021-03230-5
PMCID:
PMC8784004
ArticlePubReaderPDF–2.9MCite
9.
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis
Gonzalo Hernández, Xenia Ferrer-Cortès, Veronica Venturi, Melina Musri, Martin Floor Pilquil, Pau Marc Muñoz Torres, Ines Hernandez Rodríguez, Maria Àngels Ruiz Mínguez, Nicholas J. Kelleher, Sara Pelucchi, Alberto Piperno, Esther Plensa Alberca, Georgina Gener Ricós, Eloi Cañamero Giró, Santiago Pérez-Montero, Cristian Tornador, Jordi Villà-Freixa, Mayka Sánchez
Genes (Basel) 2021 Dec; 12(12): 1980. Published online 2021 Dec 13. doi: 10.3390/genes12121980
PMCID:
PMC8702017
ArticlePubReaderPDF–7.4MCite
10.
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia
Giulia Ravasi, Sara Pelucchi, Francesca Bertola, Martina Maria Capelletti, Raffaella Mariani, Alberto Piperno
Genes (Basel) 2021 Nov; 12(11): 1778. Published online 2021 Nov 9. doi: 10.3390/genes12111778
PMCID:
PMC8623017
ArticlePubReaderPDF–475KCite
11.
MRI‐Based Iron Phenotyping and Patient Selection for Next‐Generation Sequencing of Non–Homeostatic Iron Regulator Hemochromatosis Genes
André Viveiros, Benedikt Schaefer, Marlene Panzer, Benjamin Henninger, Michaela Plaikner, Christian Kremser, André Franke, Sören Franzenburg, Marc P. Hoeppner, Reinhard Stauder, Andreas Janecke, Herbert Tilg, Heinz Zoller
Hepatology. 2021 Nov; 74(5): 2424–2435. Published online 2021 Jul 13. doi: 10.1002/hep.31982
PMCID:
PMC8596846
ArticlePubReaderPDF–535KCite
12.
Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies
Sachelly Julián-Serrano, Fangcheng Yuan, William Wheeler, Beben Benyamin, Mitchell J Machiela, Alan A Arslan, Laura E Beane-Freeman, Paige M Bracci, Eric J Duell, Mengmeng Du, Steven Gallinger, Graham G Giles, Phyllis J Goodman, Charles Kooperberg, Loic Le Marchand, Rachel E Neale, Xiao-Ou Shu, Stephen K Van Den Eeden, Kala Visvanathan, Wei Zheng, Demetrius Albanes, Gabriella Andreotti, Eva Ardanaz, Ana Babic, Sonja I Berndt, Lauren K Brais, Paul Brennan, Bas Bueno-de-Mesquita, Julie E Buring, Stephen J Chanock, Erica J Childs, Charles C Chung, Eleonora Fabiánová, Lenka Foretová, Charles S Fuchs, J Michael Gaziano, Manuel Gentiluomo, Edward L Giovannucci, Michael G Goggins, Thilo Hackert, Patricia Hartge, Manal M Hassan, Ivana Holcátová, Elizabeth A Holly, Rayjean I Hung, Vladimir Janout, Robert C Kurtz, I-Min Lee, Núria Malats, David McKean, Roger L Milne, Christina C Newton, Ann L Oberg, Sandra Perdomo, Ulrike Peters, Miquel Porta, Nathaniel Rothman, Matthias B Schulze, Howard D Sesso, Debra T Silverman, Ian M Thompson, Jean Wactawski-Wende, Elisabete Weiderpass, Nicolas Wenstzensen, Emily White, Lynne R Wilkens, Herbert Yu, Anne Zeleniuch-Jacquotte, Jun Zhong, Peter Kraft, Dounghui Li, Peter T Campbell, Gloria M Petersen, Brian M Wolpin, Harvey A Risch, Laufey T Amundadottir, Alison P Klein, Kai Yu, Rachael Z Stolzenberg-Solomon
Am J Clin Nutr. 2021 Oct; 114(4): 1408–1417. Published online 2021 Jul 13. doi: 10.1093/ajcn/nqab217
PMCID:
PMC8488877
ArticlePubReaderPDF–290KCite
13.
Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China
Liyan Wu, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, Lina Wu, Shuxiang Li, Xiaoming Wang, Xinyan Zhao, Qianyi Wang, Min Li, Yu Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
Orphanet J Rare Dis. 2021; 16: 398. Published online 2021 Sep 28. doi: 10.1186/s13023-021-02020-y
PMCID:
PMC8479922
ArticlePubReaderPDF–1.0MCite
14.
Matriptase-2 and Hemojuvelin in Hepcidin Regulation: In Vivo Immunoblot Studies in Mask Mice
Jan Krijt, Jana Frýdlová, Iuliia Gurieva, Petr Přikryl, Martin Báječný, Andrea U. Steinbicker, Martin Vokurka, Jaroslav Truksa
Int J Mol Sci. 2021 Mar; 22(5): 2650. Published online 2021 Mar 6. doi: 10.3390/ijms22052650
PMCID:
PMC7961762
ArticlePubReaderPDF–3.4MCite
15.
Haemochromatosis
Pierre Brissot, Antonello Pietrangelo, Paul C. Adams, Barbara de Graaff, Christine E. McLaren, Olivier Loréal
Nat Rev Dis Primers. Author manuscript; available in PMC 2021 Jan 1.
Published in final edited form as: Nat Rev Dis Primers. 2018 Apr 5; 4: 18016. Published online 2018 Apr 5. doi: 10.1038/nrdp.2018.16
PMCID:
PMC7775623
ArticlePubReaderPDF–1.5MCite
16.
Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload
Aaron M. Wortham, Devorah C. Goldman, Juxing Chen, William H. Fleming, An-Sheng Zhang, Caroline A. Enns
J Biol Chem. 2020 Mar 20; 295(12): 3906–3917. Published online 2020 Feb 13. doi: 10.1074/jbc.RA119.010535
PMCID:
PMC7086028
ArticlePubReaderPDF–2.3MCite
17.
Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?
Laura M. Raffield, Tin Louie, Tamar Sofer, Deepti Jain, Eli Ipp, Kent D. Taylor, George J. Papanicolaou, Larissa Avilés-Santa, Leslie A. Lange, Cathy C. Laurie, Matthew P. Conomos, Timothy A. Thornton, Yii-Der Ida Chen, Qibin Qi, Scott Cotler, Bharat Thyagarajan, Neil Schneiderman, Jerome I. Rotter, Alex P. Reiner, Henry J. Lin
Hum Mol Genet. 2017 May 15; 26(10): 1966–1978. Published online 2017 Mar 7. doi: 10.1093/hmg/ddx082
PMCID:
PMC6075359
ArticlePubReaderPDF–191KCite
18.
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
ArticlePubReaderPDF–1.6MCite
19.
Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway
Mastura Wahedi, Aaron M. Wortham, Mark D. Kleven, Ningning Zhao, Shall Jue, Caroline A. Enns, An-Sheng Zhang
J Biol Chem. 2017 Nov 3; 292(44): 18354–18371. Published online 2017 Sep 18. doi: 10.1074/jbc.M117.801795
PMCID:
PMC5672056
ArticlePubReaderPDF–3.3MCite
20.
Effect of erythropoietin administration on proteins participating in iron homeostasis in Tmprss6-mutated mask mice
Jana Frýdlová, Zuzana Rychtarčíková, Iuliia Gurieva, Martin Vokurka, Jaroslav Truksa, Jan Krijt
PLoS One. 2017; 12(10): e0186844. Published online 2017 Oct 26. doi: 10.1371/journal.pone.0186844
PMCID:
PMC5658091
ArticlePubReaderPDF–13MCite

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