Variant ID: 6-26093141-G-A

NM_000410.3(HFE):c.845G>A;(p.C282Y)

This variant was identified in 1357 publications

View GRCh38 version.




Publications:


The Role of Iron in Atherosclerosis in Apolipoprotein E Deficient Mice.

Frontiers In Cardiovascular Medicine
Ma, Juan J; Ma, Hui-Min HM; Shen, Meng-Qi MQ; Wang, Yuan Yuan YY; Bao, Yu-Xin YX; Liu, Yong Y; Ke, Ya Y; Qian, Zhong-Ming ZM
Publication Date: 2022

Variant appearance in text: HFE: C282Y
PubMed Link: 35669479
Variant Present in the following documents:
  • Main text
  • fcvm-09-857933.pdf
View BVdb publication page



HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.

Hereditas
Barton, James C JC; Barton, J Clayborn JC; Acton, Ronald T RT
Publication Date: 2022-06-06

Variant appearance in text: HFE: C282Y
PubMed Link: 35659379
Variant Present in the following documents:
  • Main text
  • 41065_2022_Article_237.pdf
View BVdb publication page



Genetic support of a causal relationship between iron status and atrial fibrillation: a Mendelian randomization study.

Genes & Nutrition
Wang, Tianyi T; Cheng, Jun J; Wang, Yanggan Y
Publication Date: 2022-05-30

Variant appearance in text: rs1800562
PubMed Link: 35637428
Variant Present in the following documents:
  • Main text
  • 12263_2022_Article_708.pdf
View BVdb publication page



The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation.

Journal Of Personalized Medicine
Foss, Kimberly S KS; O'Daniel, Julianne M JM; Berg, Jonathan S JS; Powell, Sabrina N SN; Cadigan, Rosemary Jean RJ; Kuczynski, Kristine J KJ; Milko, Laura V LV; Saylor, Katherine W KW; Roberts, Megan M; Weck, Karen K; Henderson, Gail E GE
Publication Date: 2022-04-26

Variant appearance in text: HFE: C282Y
PubMed Link: 35629115
Variant Present in the following documents:
  • Main text
  • jpm-12-00692.pdf
View BVdb publication page



Ultrasound-detected inflammation is more common in clinically manifest hand osteoarthritis than in painless bony enlarged finger joints: subanalysis of the population-based Bruneck study.

Therapeutic Advances In Musculoskeletal Disease
Gasperi, Nina N; Schreiber, Nikolaus N; Bosch, Philipp P; Adinolfi, Antonella A; Kleyer, Arnd A; Hagen, Melanie M; Gasperi, Christiane C; Weger, Martin M; Kiechl, Stefan S; Willeit, Johann J; Schett, Georg G; Iagnocco, Annamaria A; Gasperi, Arno A; Mayr, Agnes A; Dejaco, Christian C
Publication Date: 2022

Variant appearance in text: HFE: C282Y
PubMed Link: 35586515
Variant Present in the following documents:
  • 10.1177_1759720X221096382.pdf
View BVdb publication page



Genetics of Anthracycline-Associated Cardiotoxicity.

Frontiers In Cardiovascular Medicine
Al-Otaibi, Talal Khalid TK; Weitzman, Benjamin B; Tahir, Usman A UA; Asnani, Aarti A
Publication Date: 2022

Variant appearance in text: HFE: C282Y; rs1800562
PubMed Link: 35528837
Variant Present in the following documents:
  • fcvm-09-867873.pdf
View BVdb publication page



Causal Association of Type 2 Diabetes Mellitus and Glycemic Traits With Cardiovascular Diseases and Lipid Traits: A Mendelian Randomization Study.

Frontiers In Endocrinology
Huang, Mingkai M; Laina-Nicaise, Loum-Davadi LD; Zha, Lingfeng L; Tang, Tingting T; Cheng, Xiang X
Publication Date: 2022

Variant appearance in text: rs1800562
PubMed Link: 35528012
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Genome-wide association and Mendelian randomization study of blood copper levels and 213 deep phenotypes in humans.

Communications Biology
Yang, Wenjun W; Li, Longman L; Feng, Xiuming X; Cheng, Hong H; Ge, Xiaoting X; Bao, Yu Y; Huang, Lulu L; Wang, Fei F; Liu, Chaoqun C; Chen, Xing X; Mo, Zengnan Z; Yang, Xiaobo X
Publication Date: 2022-05-02

Variant appearance in text: rs1800562
PubMed Link: 35501403
Variant Present in the following documents:
  • 42003_2022_Article_3351.pdf
View BVdb publication page



Advances in our understanding of the molecular pathogenesis of necrotizing enterocolitis.

Bmc Pediatrics
Cai, Xue X; Golubkova, Alena A; Hunter, Catherine J CJ
Publication Date: 2022-04-25

Variant appearance in text: rs1800562
PubMed Link: 35468817
Variant Present in the following documents:
  • 12887_2022_Article_3277.pdf
View BVdb publication page



Association of Endogenous Erythropoietin Levels and Iron Status With Cognitive Functioning in the General Population.

Frontiers In Aging Neuroscience
Ayerdem, Gizem G; Bosma, Matthijs J MJ; Vinke, Joanna Sophia J JSJ; Ziengs, Aaltje L AL; Potgieser, Adriaan R E ARE; Gansevoort, Ron T RT; Bakker, Stephan J L SJL; De Borst, Martin H MH; Eisenga, Michele F MF
Publication Date: 2022

Variant appearance in text: HFE: C282Y
PubMed Link: 35462689
Variant Present in the following documents:
  • fnagi-14-862856.pdf
View BVdb publication page



Association between Iron Intake and Progression of Knee Osteoarthritis.

Nutrients
Wu, Limin L; Si, Haibo H; Zeng, Yi Y; Wu, Yuangang Y; Li, Mingyang M; Liu, Yuan Y; Shen, Bin B
Publication Date: 2022-04-18

Variant appearance in text: HFE: C282Y
PubMed Link: 35458236
Variant Present in the following documents:
  • nutrients-14-01674.pdf
View BVdb publication page



Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

International Journal Of Molecular Sciences
Alvarez-Mora, Maria Isabel MI; Blanco-Palmero, Victor Antonio VA; Quesada-Espinosa, Juan Francisco JF; Arteche-Lopez, Ana Rosa AR; Llamas-Velasco, Sara S; Palma Milla, Carmen C; Lezana Rosales, Jose Miguel JM; Gomez-Manjon, Irene I; Hernandez-Lain, Aurelio A; Jimenez Almonacid, Justino J; Gil-Fournier, Belén B; Ramiro-León, Soraya S; González-Sánchez, Marta M; Herrero-San Martín, Alejandro Octavio AO; Pérez-Martínez, David Andrés DA; Gómez-Tortosa, Estrella E; Carro, Eva E; Bartolomé, Fernando F; Gomez-Rodriguez, Maria Jose MJ; Sanchez-Calvin, María Teresa MT; Villarejo-Galende, Alberto A; Moreno-Garcia, Marta M
Publication Date: 2022-04-11

Variant appearance in text: HFE: C282Y
PubMed Link: 35457051
Variant Present in the following documents:
  • ijms-23-04230.pdf
View BVdb publication page



Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions.

Genes
Lutokhina, Yulia Y; Blagova, Olga O; Panferov, Alexander A; Sedov, Vsevolod V; Kogan, Evgeniya E; Nekrasova, Tatiana T; Nedostup, Alexander A; Zaklyazminskaya, Elena E
Publication Date: 2022-03-24

Variant appearance in text: HFE1: 845G>A
PubMed Link: 35456383
Variant Present in the following documents:
  • genes-13-00577.pdf
View BVdb publication page



MRI Appearance of Focal Lesions in Liver Iron Overload.

Diagnostics (Basel, Switzerland)
Pecorelli, Anna A; Franceschi, Paola P; Braccischi, Lorenzo L; Izzo, Federica F; Renzulli, Matteo M; Golfieri, Rita R
Publication Date: 2022-04-02

Variant appearance in text: HFE: C282Y
PubMed Link: 35453939
Variant Present in the following documents:
  • diagnostics-12-00891.pdf
View BVdb publication page



Expression profiles of iron transport molecules along the duodenum.

Journal Of Cellular And Molecular Medicine
Balusikova, Kamila K; Dostalikova-Cimburova, Marketa M; Tacheci, Ilja I; Kovar, Jan J
Publication Date: 2022-04-21

Variant appearance in text: HFE: C282Y
PubMed Link: 35445529
Variant Present in the following documents:
  • JCMM-26-2995.pdf
View BVdb publication page



LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank.

Frontiers In Genetics
Gratton, Jasmine J; Finan, Chris C; Hingorani, Aroon D AD; Humphries, Steve E SE; Futema, Marta M
Publication Date: 2022

Variant appearance in text: rs1800562
PubMed Link: 35432461
Variant Present in the following documents:
  • fgene-13-845498.pdf
View BVdb publication page



Genetics and sports performance: the present and future in the identification of talent for sports based on DNA testing.

European Journal Of Applied Physiology
Varillas-Delgado, David D; Del Coso, Juan J; Gutiérrez-Hellín, Jorge J; Aguilar-Navarro, Millán M; Muñoz, Alejandro A; Maestro, Antonio A; Morencos, Esther E
Publication Date: 2022-04-16

Variant appearance in text: HFE: 845G>A; rs1800562
PubMed Link: 35428907
Variant Present in the following documents:
  • 421_2022_Article_4945.pdf
View BVdb publication page



Iron Metabolism in Aging and Age-Related Diseases.

International Journal Of Molecular Sciences
Tian, Yao Y; Tian, Yuanliangzi Y; Yuan, Zhixiao Z; Zeng, Yutian Y; Wang, Shuai S; Fan, Xiaolan X; Yang, Deying D; Yang, Mingyao M
Publication Date: 2022-03-25

Variant appearance in text: HFE: C282Y
PubMed Link: 35408967
Variant Present in the following documents:
  • ijms-23-03612.pdf
View BVdb publication page



Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Publication Date: 2022-04-08

Variant appearance in text: HFE: 845G>A; Cys282Tyr
PubMed Link: 35395838
Variant Present in the following documents:
  • 41525_2022_295_MOESM5_ESM.xlsx
View BVdb publication page



Iron Promotes Cardiac Doxorubicin Retention and Toxicity Through Downregulation of the Mitochondrial Exporter ABCB8.

Frontiers In Pharmacology
Menon, Archita Venugopal AV; Kim, Jonghan J
Publication Date: 2022

Variant appearance in text: HFE: C282Y
PubMed Link: 35359834
Variant Present in the following documents:
  • fphar-13-817951.pdf
View BVdb publication page



An exploratory pilot study on the involvement of APOE, HFE, C9ORF72 variants and comorbidities in neurocognitive and physical performance in a group of HIV-infected people.

Metabolic Brain Disease
Zanella, Isabella I; Zacchi, Eliana E; Fornari, Chiara C; Fumarola, Benedetta B; Antoni, Melania Degli MD; Zizioli, Daniela D; Quiros-Roldan, Eugenia E; ,
Publication Date: 2022-03-30

Variant appearance in text: HFE: C282Y
PubMed Link: 35353274
Variant Present in the following documents:
  • 11011_2022_Article_975.pdf
View BVdb publication page



Empowering consumers to PREVENT diet-related diseases through OMICS sciences (PREVENTOMICS): protocol for a parallel double-blinded randomised intervention trial to investigate biomarker-based nutrition plans for weight loss.

Bmj Open
Aldubayan, Mona Adnan MA; Pigsborg, Kristina K; Gormsen, Sophia M O SMO; Serra, Francisca F; Palou, Mariona M; Mena, Pedro P; Wetzels, Mart M; Calleja, Alberto A; Caimari, Antoni A; Del Bas, Josep J; Gutierrez, Biotza B; Magkos, Faidon F; Hjorth, Mads Fiil MF
Publication Date: 2022-03-29

Variant appearance in text: rs1800562
PubMed Link: 35351696
Variant Present in the following documents:
  • bmjopen-2021-051285.draft_revisions.pdf
  • bmjopen-2021-051285.pdf
View BVdb publication page



COVID-19, Cation Dysmetabolism, Sialic Acid, CD147, ACE2, Viroporins, Hepcidin and Ferroptosis: A Possible Unifying Hypothesis.

F1000Research
Cavezzi, Attilio A; Menicagli, Roberto R; Troiani, Emidio E; Corrao, Salvatore S
Publication Date: 2022

Variant appearance in text: HFE: C282Y
PubMed Link: 35340277
Variant Present in the following documents:
  • f1000research-11-121457.pdf
View BVdb publication page



Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations.

Biology
Aboagye, Elvis Twumasi ET; Adadey, Samuel Mawuli SM; Esoh, Kevin K; Jonas, Mario M; de Kock, Carmen C; Amenga-Etego, Lucas L; Awandare, Gordon A GA; Wonkam, Ambroise A
Publication Date: 2022-03-21

Variant appearance in text: HFE: 845G>A; Cys282Tyr
PubMed Link: 35336849
Variant Present in the following documents:
  • biology-11-00476.pdf
View BVdb publication page



NAFLD in normal weight individuals.

Diabetology & Metabolic Syndrome
DiStefano, Johanna K JK; Gerhard, Glenn S GS
Publication Date: 2022-03-24

Variant appearance in text: HFE: C282Y
PubMed Link: 35331317
Variant Present in the following documents:
  • 13098_2022_Article_814.pdf
View BVdb publication page



Iatrogenic Iron Promotes Neurodegeneration and Activates Self-Protection of Neural Cells against Exogenous Iron Attacks.

Function (Oxford, England)
Xia, Maosheng M; Liang, Shanshan S; Li, Shuai S; Ji, Ming M; Chen, Beina B; Zhang, Manman M; Dong, Chengyi C; Chen, Binjie B; Gong, Wenliang W; Wen, Gehua G; Zhan, Xiaoni X; Zhang, Dianjun D; Li, Xinyu X; Zhou, Yuefei Y; Guan, Dawei D; Verkhratsky, Alexei A; Li, Baoman B
Publication Date: 2021

Variant appearance in text: HFE: Cys282Tyr
PubMed Link: 35330817
Variant Present in the following documents:
  • zqab003.pdf
View BVdb publication page



A Bioinformatics-Assisted Review on Iron Metabolism and Immune System to Identify Potential Biomarkers of Exercise Stress-Induced Immunosuppression.

Biomedicines
Bonilla, Diego A DA; Moreno, Yurany Y; Petro, Jorge L JL; Forero, Diego A DA; Vargas-Molina, Salvador S; Odriozola-Martínez, Adrián A; Orozco, Carlos A CA; Stout, Jeffrey R JR; Rawson, Eric S ES; Kreider, Richard B RB
Publication Date: 2022-03-21

Variant appearance in text: HFE: C282Y; rs1800562
PubMed Link: 35327526
Variant Present in the following documents:
  • biomedicines-10-00724.pdf
View BVdb publication page



Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations.

Journal Of The American Heart Association
Olmastroni, Elena E; Gazzotti, Marta M; Arca, Marcello M; Averna, Maurizio M; Pirillo, Angela A; Catapano, Alberico Luigi AL; Casula, Manuela M; ,
Publication Date: 2022-03-24

Variant appearance in text: rs1800562
PubMed Link: 35322671
Variant Present in the following documents:
  • JAH3-11-e023668.pdf
View BVdb publication page



Understanding signatures of positive natural selection in human zinc transporter genes.

Scientific Reports
Roca-Umbert, Ana A; Caro-Consuegra, Rocio R; Londono-Correa, Diego D; Rodriguez-Lozano, Gabriel Felipe GF; Vicente, Ruben R; Bosch, Elena E
Publication Date: 2022-03-12

Variant appearance in text: HFE: C282Y
PubMed Link: 35279701
Variant Present in the following documents:
  • 41598_2022_Article_8439.pdf
View BVdb publication page



Iron Overload Induces Oxidative Stress, Cell Cycle Arrest and Apoptosis in Chondrocytes.

Frontiers In Cell And Developmental Biology
Karim, Asima A; Bajbouj, Khuloud K; Shafarin, Jasmin J; Qaisar, Rizwan R; Hall, Andrew C AC; Hamad, Mawieh M
Publication Date: 2022

Variant appearance in text: HFE: C282Y
PubMed Link: 35252185
Variant Present in the following documents:
  • fcell-10-821014.pdf
View BVdb publication page



Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04

Variant appearance in text: rs1800562
PubMed Link: 35246524
Variant Present in the following documents:
  • 41467_2022_28648_MOESM10_ESM.xlsx
View BVdb publication page



Robust Mendelian randomization in the presence of residual population stratification, batch effects and horizontal pleiotropy.

Nature Communications
Cinelli, Carlos C; LaPierre, Nathan N; Hill, Brian L BL; Sankararaman, Sriram S; Eskin, Eleazar E
Publication Date: 2022-03-01

Variant appearance in text: rs1800562
PubMed Link: 35232963
Variant Present in the following documents:
View BVdb publication page



Enabling Diagnostic Resulting as a New Category of Secondary Genomic Findings.

Journal Of Personalized Medicine
Murray, Michael F MF
Publication Date: 2022-01-26

Variant appearance in text: HFE: C282Y
PubMed Link: 35207647
Variant Present in the following documents:
  • jpm-12-00158.pdf
View BVdb publication page



Heterogeneity of Genotype-Phenotype in Congenital Hypofibrinogenemia-A Review of Case Reports Associated with Bleeding and Thrombosis.

Journal Of Clinical Medicine
Brunclikova, Monika M; Simurda, Tomas T; Zolkova, Jana J; Sterankova, Miroslava M; Skornova, Ingrid I; Dobrotova, Miroslava M; Kolkova, Zuzana Z; Loderer, Dusan D; Grendar, Marian M; Hudecek, Jan J; Stasko, Jan J; Kubisz, Peter P
Publication Date: 2022-02-18

Variant appearance in text: HFE: C282Y
PubMed Link: 35207353
Variant Present in the following documents:
  • jcm-11-01083.pdf
View BVdb publication page



Iron in Porphyrias: Friend or Foe?

Diagnostics (Basel, Switzerland)
Buzzetti, Elena E; Ventura, Paolo P; Corradini, Elena E
Publication Date: 2022-01-21

Variant appearance in text: HFE: Cys282Tyr
PubMed Link: 35204362
Variant Present in the following documents:
  • diagnostics-12-00272.pdf
View BVdb publication page



Effects of Excess Iron on the Retina: Insights From Clinical Cases and Animal Models of Iron Disorders.

Frontiers In Neuroscience
Shahandeh, Ali A; Bui, Bang V BV; Finkelstein, David I DI; Nguyen, Christine T O CTO
Publication Date: 2021

Variant appearance in text: HFE: C282Y
PubMed Link: 35185447
Variant Present in the following documents:
  • fnins-15-794809.pdf
View BVdb publication page



Air Pollution and Cognitive Impairment across the Life Course in Humans: A Systematic Review with Specific Focus on Income Level of Study Area.

International Journal Of Environmental Research And Public Health
Chandra, Mina M; Rai, Chandra Bhushan CB; Kumari, Neelam N; Sandhu, Vipindeep Kaur VK; Chandra, Kalpana K; Krishna, Murali M; Kota, Sri Harsha SH; Anand, Kuljeet Singh KS; Oudin, Anna A
Publication Date: 2022-01-27

Variant appearance in text: HFE: C282Y
PubMed Link: 35162428
Variant Present in the following documents:
  • Main text
  • ijerph-19-01405.pdf
View BVdb publication page



Rare co-inherited alpha-thalassemia minor and beta-thalassemia minor with heterozygous H63D mutation mistaken as iron deficiency anemia: a case report.

Ame Case Reports
Chaudhry, Arooj Fatima AF; Malik, Zulfiqar Z; Shegos, Cameron Joseph CJ
Publication Date: 2022

Variant appearance in text: HFE: C282Y
PubMed Link: 35128312
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hepatitis C virus: A critical approach to who really needs treatment.

World Journal Of Hepatology
Kouroumalis, Elias E; Voumvouraki, Argyro A
Publication Date: 2022-01-27

Variant appearance in text: HFE: C282Y
PubMed Link: 35126838
Variant Present in the following documents:
  • WJH-14-1.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02-03

Variant appearance in text: HFE: C282Y; rs1800562
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx
View BVdb publication page



Hemochromatosis and Xeroderma Pigmentosum: Two (Un)Suspicious Neighbors.

Ge Portuguese Journal Of Gastroenterology
Monte, Filipa F; Garrido, Mónica M; Pereira Guedes, Tiago T; Reis, Joel J; Porto, Graça G; Pedroto, Isabel I
Publication Date: 2022-01

Variant appearance in text: HFE: C282Y
PubMed Link: 35111962
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Rare Case of Aeromonas Hydrophila Infection in a Patient With Hereditary Hemochromatosis.

Cureus
Obeidat, Adham E AE; Wong, Linda L LL; Fujii-Lau, Larissa L
Publication Date: 2021-12

Variant appearance in text: HFE: C282Y
PubMed Link: 35103188
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000020612.pdf
View BVdb publication page



Interplay Between Iron Overload and Osteoarthritis: Clinical Significance and Cellular Mechanisms.

Frontiers In Cell And Developmental Biology
Cai, Chenhui C; Hu, Wenhui W; Chu, Tongwei T
Publication Date: 2021

Variant appearance in text: HFE: C282Y
PubMed Link: 35096841
Variant Present in the following documents:
  • fcell-09-817104.pdf
View BVdb publication page



Genetic common variants associated with cerebellar volume and their overlap with mental disorders: a study on 33,265 individuals from the UK-Biobank.

Molecular Psychiatry
Chambers, Tom T; Escott-Price, Valentina V; Legge, Sophie S; Baker, Emily E; Singh, Krish D KD; Walters, James T R JTR; Caseras, Xavier X; Anney, Richard J L RJL
Publication Date: 2022-01-25

Variant appearance in text: HFE: Cys282Tyr; rs1800562
PubMed Link: 35079123
Variant Present in the following documents:
  • Main text
  • 41380_2022_Article_1443.pdf
View BVdb publication page



A farewell to phlebotomy-use of placenta-derived drugs Laennec and Porcine for improving hereditary hemochromatosis without phlebotomy: a case report.

Journal Of Medical Case Reports
Hamada, Yuki Y; Hirano, Eiichi E; Sugimoto, Koji K; Hanada, Keizo K; Kaku, Taiichi T; Manda, Naoki N; Tsuchida, Kenichi K
Publication Date: 2022-01-23

Variant appearance in text: HFE: C282Y
PubMed Link: 35065677
Variant Present in the following documents:
  • Main text
  • 13256_2021_Article_3230.pdf
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Decreased Iron Ion Concentrations in the Peripheral Blood Correlate with Coronary Atherosclerosis.

Nutrients
Meng, Heyu H; Wang, Yueying Y; Ruan, Jianjun J; Chen, Yanqiu Y; Wang, Xue X; Zhou, Fengfeng F; Meng, Fanbo F
Publication Date: 2022-01-13

Variant appearance in text: HFE: Cys282Tyr
PubMed Link: 35057500
Variant Present in the following documents:
  • nutrients-14-00319.pdf
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Quality of Life Scores Remained Different among the Genotypic Groups of Patients with Suspected Hemochromatosis, Even after Treatment Period.

Genes
Acevedo, Luis Alfredo Utria LAU; Alvarenga, Aline Morgan AM; Fonseca, Paula Fernanda Silva PFS; da Silva, Nathália Kozikas NK; Cançado, Rodolfo Delfini RD; Naoum, Flavio Augusto FA; Dinardo, Carla Luana CL; Pereira, Alexandre Costa AC; Brissot, Pierre P; Santos, Paulo Caleb Junior Lima PCJL
Publication Date: 2022-01-10

Variant appearance in text: HFE: Cys282Tyr
PubMed Link: 35052458
Variant Present in the following documents:
  • Main text
  • genes-13-00118.pdf
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Genotype Score for Iron Status Is Associated with Muscle Fiber Composition in Women.

Genes
Takaragawa, Mizuki M; Tobina, Takuro T; Shiose, Keisuke K; Kakigi, Ryo R; Tsuzuki, Takamasa T; Ichinoseki-Sekine, Noriko N; Kumagai, Hiroshi H; Zempo, Hirofumi H; Miyamoto-Mikami, Eri E; Kobayashi, Hiroyuki H; Naito, Hisashi H; Fuku, Noriyuki N
Publication Date: 2021-12-21

Variant appearance in text: rs1800562
PubMed Link: 35052344
Variant Present in the following documents:
  • Main text
  • genes-13-00005.pdf
View BVdb publication page



Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis.

Journal Of The National Cancer Institute
Murphy, Neil N; Song, Mingyang M; Papadimitriou, Nikos N; Carreras-Torres, Robert R; Langenberg, Claudia C; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Barroso, Inês I; Chen, Ji J; Frayling, Tim T; Bull, Caroline J CJ; Vincent, Emma E EE; Cotterchio, Michelle M; Gruber, Stephen B SB; Pai, Rish K RK; Newcomb, Polly A PA; Perez-Cornago, Aurora A; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Vodicka, Pavel P; Wolk, Alicja A; Wu, Anna H AH; Peters, Ulrike U; Chan, Andrew T AT; Gunter, Marc J MJ
Publication Date: 2022-01-20

Variant appearance in text: rs1800562
PubMed Link: 35048991
Variant Present in the following documents:
  • djac011_supplementary_data.pdf
View BVdb publication page



Hemochromatosis risk genotype is not associated with colorectal cancer or age at its diagnosis.

Hgg Advances
Jarvik, Gail P GP; Wang, Xiaoliang X; Fontanillas, Pierre P; Kim, Esther E; Chanprasert, Sirisak S; Gordon, Adam S AS; Bastarache, Lisa L; Kowdley, Kris V KV; Harrison, Tabitha T; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Bézieau, Stéphane S; Weinstein, Stephanie J SJ; Newcomb, Polly A PA; Casey, Graham G; Platz, Elizabeth A EA; Visvanathan, Kala K; Le Marchand, Loic L; Ulrich, Cornelia M CM; Hardikar, Sheetal S; Li, Christopher I CI; van Duijnhoven, Franzel J B FJB; Gsur, Andrea A; Campbell, Peter T PT; Moreno, Victor V; Vodička, Pavel P; Brenner, Hermann H; Chang-Claude, Jenny J; Hoffmeister, Michael M; Slattery, Martha L ML; Gunter, Marc J MJ; Aglago, Elom K EK; Castellví-Bel, Sergi S; Kweon, Sun-Seog SS; Chan, Andrew T AT; Li, Li L; Zheng, Wei W; Bishop, D Timothy DT; Giles, Graham G GG; Rennert, Gad G; Offit, Kenneth K; Keku, Temitope O TO; Woods, Michael O MO; Hampe, Jochen J; Van Guelpen, Bethan B; Gallinger, Steven J SJ; de la Chapelle, Albert A; Hampel, Heather H; Berndt, Sonja I SI; Tangen, Catherine M CM; Lindblom, Annika A; Wolk, Alicja A; Burnett-Hartman, Andrea A; Wu, Anna H AH; White, Emily E; , ; Gruber, Stephen B SB; Jenkins, Mark A MA; Mountain, Joanna J; Peters, Ulrike U; Crosslin, David R DR
Publication Date: 2020-10-22

Variant appearance in text: HFE: 845G>A; Cys282Tyr; rs1800562
PubMed Link: 35047832
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
  • mmc2.pdf
View BVdb publication page



Association of Habitual Dietary Intake with Liver Iron-A Population-Based Imaging Study.

Nutrients
Filler, Jule J; von Krüchten, Ricarda R; Wawro, Nina N; Maier, Lisa L; Lorbeer, Roberto R; Nattenmüller, Johanna J; Thorand, Barbara B; Bamberg, Fabian F; Peters, Annette A; Schlett, Christopher L CL; Linseisen, Jakob J; Rospleszcz, Susanne S
Publication Date: 2021-12-28

Variant appearance in text: HFE: C282Y; rs1800562
PubMed Link: 35011009
Variant Present in the following documents:
  • Main text
  • nutrients-14-00132.pdf
View BVdb publication page



HLA-A*03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.

Hgg Advances
Bolze, Alexandre A; Neveux, Iva I; Schiabor Barrett, Kelly M KM; White, Simon S; Isaksson, Magnus M; Dabe, Shaun S; Lee, William W; Grzymski, Joseph J JJ; Washington, Nicole L NL; Cirulli, Elizabeth T ET
Publication Date: 2022-01-01

Variant appearance in text: HFE: C282Y
PubMed Link: 35005651
Variant Present in the following documents:
  • mmc3.pdf
  • main.pdf
View BVdb publication page



The Impact of Trace Elements on Osteoarthritis.

Frontiers In Medicine
Li, Guoyong G; Cheng, Tao T; Yu, Xuefeng X
Publication Date: 2021

Variant appearance in text: HFE: C282Y
PubMed Link: 35004740
Variant Present in the following documents:
  • fmed-08-771297.pdf
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Hereditary Hemochromatosis Associated With Idiopathic Refractory Aplastic Anemia in a Five-Year-Old Boy: A Case Report.

Cureus
Alharbi, Ibrahim I; Bahakim, Abdullah K AK; Alharthi, Sanad M SM; Alharthi, Saad M SM; Baabdullah, Abdulrahman A AA
Publication Date: 2021-12

Variant appearance in text: HFE: C282Y
PubMed Link: 35003970
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000020135.pdf
View BVdb publication page



Relating Global and Local Connectome Changes to Dementia and Targeted Gene Expression in Alzheimer's Disease.

Frontiers In Human Neuroscience
Elsheikh, Samar S M SSM; Chimusa, Emile R ER; , ; Mulder, Nicola J NJ; Crimi, Alessandro A
Publication Date: 2021

Variant appearance in text: HFE: C282Y
PubMed Link: 35002653
Variant Present in the following documents:
  • Main text
  • fnhum-15-761424.pdf
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Hereditary Hemochromatosis: A Cardiac Perspective.

Cureus
Joshi, Pranay K PK; Patel, Saawan C SC; Shreya, Devarashetty D; Zamora, Diana I DI; Patel, Gautami S GS; Grossmann, Idan I; Rodriguez, Kevin K; Soni, Mridul M; Sange, Ibrahim I
Publication Date: 2021-11

Variant appearance in text: HFE: C282Y
PubMed Link: 34987900
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000020009.pdf
View BVdb publication page



Hepatitis B-Associated Symptomatic Iron Overload, with Complete Resolution after Nucleoside Analogue Treatment.

Case Reports In Gastrointestinal Medicine
Tey, Tze Tong TT; Yiu, Richard R; Leow, Wei Qiang WQ
Publication Date: 2021

Variant appearance in text: HFE: C282Y
PubMed Link: 34987872
Variant Present in the following documents:
  • Main text
  • CRIGM2021-8407257.pdf
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Lack of association between C282Y and H63D polymorphisms in the hemochromatosis gene and risk of multiple sclerosis: A meta-analysis.

Biomedical Reports
Starčević Čizmarević, Nada N; Ćurko-Cofek, Božena B; Barac-Latas, Vesna V; Peterlin, Borut B; Ristić, Smiljana S
Publication Date: 2022-02

Variant appearance in text: HFE: C282Y
PubMed Link: 34987796
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early hepatocellular carcinoma detection using magnetic resonance imaging is cost-effective in high-risk patients with cirrhosis.

Jhep Reports : Innovation In Hepatology
Nahon, Pierre P; Najean, Marie M; Layese, Richard R; Zarca, Kevin K; Segar, Laeticia Blampain LB; Cagnot, Carole C; Ganne-Carrié, Nathalie N; N'Kontchou, Gisèle G; Pol, Stanislas S; Chaffaut, Cendrine C; Carrat, Fabrice F; Ronot, Maxime M; Audureau, Etienne E; Durand-Zaleski, Isabelle I; , ; , ; , ; ,
Publication Date: 2022-01

Variant appearance in text: HFE1: C282Y
PubMed Link: 34977518
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pediatric Chemotherapy Drugs Associated With Cardiotoxicity.

Cureus
Hitawala, Gazala G; Jain, Esha E; Castellanos, Lisett L; Garimella, Radhika R; Akku, Radhika R; Chamavaliyathil, Adila K AK; Irfan, Huma H; Jaiswal, Vikash V; Quinonez, Jonathan J; Dakroub, Maher M; Hanif, Muhammad M; Baloch, Ali H AH; Gomez, Ivan S IS; Dylewski, John J
Publication Date: 2021-11

Variant appearance in text: rs1800562
PubMed Link: 34976454
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000019658.pdf
View BVdb publication page



Hfe Is Highly Expressed in Liver Sinusoidal Endothelial Cells But Is Not Needed to Maintain Systemic Iron Homeostasis In Vivo.

Hemasphere
Colucci, Silvia S; Müdder, Katja K; Muckenthaler, Martina U MU; Altamura, Sandro S
Publication Date: 2022-01

Variant appearance in text: HFE: C282Y
PubMed Link: 34964037
Variant Present in the following documents:
  • Main text
  • hs9-6-e667.pdf
View BVdb publication page



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: HFE: Cys282Tyr
PubMed Link: 34946929
Variant Present in the following documents:
  • Main text
  • genes-12-01980.pdf
View BVdb publication page



Distribution and Associated Factors of Hepatic Iron-A Population-Based Imaging Study.

Metabolites
Maier, Lisa L; von Krüchten, Ricarda R; Lorbeer, Roberto R; Filler, Jule J; Nattenmüller, Johanna J; Thorand, Barbara B; Koenig, Wolfgang W; Rathmann, Wolfgang W; Bamberg, Fabian F; Schlett, Christopher L CL; Peters, Annette A; Rospleszcz, Susanne S
Publication Date: 2021-12-15

Variant appearance in text: rs1800562
PubMed Link: 34940629
Variant Present in the following documents:
  • Main text
  • metabolites-11-00871.pdf
View BVdb publication page



Abdominal pain and cirrhosis at diagnosis of hemochromatosis: Analysis of 219 referred probands with HFE p.C282Y homozygosity and a literature review.

Plos One
Barton, James C JC; Barton, J Clayborn JC; Patel, Neha N; McLaren, Gordon D GD
Publication Date: 2021

Variant appearance in text: HFE: 845G>A; C282Y; rs1800562
PubMed Link: 34932603
Variant Present in the following documents:
  • Main text
  • pone.0261690.pdf
View BVdb publication page



Screening for hereditary haemochromatosis in patients undergoing knee arthroplasty : a retrospective cohort study of 2,035 patients.

Bone & Joint Open
Krasin, Elisha E; Gold, Aviram A; Morgan, Samuel S; Warschawski, Yaniv Y
Publication Date: 2021-12

Variant appearance in text: HFE: C282Y
PubMed Link: 34905938
Variant Present in the following documents:
  • Main text
  • BJO-2-1062.pdf
View BVdb publication page



Abnormal liver enzymes: A review for clinicians.

World Journal Of Hepatology
Kalas, M Ammar MA; Chavez, Luis L; Leon, Monica M; Taweesedt, Pahnwat Tonya PT; Surani, Salim S
Publication Date: 2021-11-27

Variant appearance in text: HFE: C282Y
PubMed Link: 34904038
Variant Present in the following documents:
  • Main text
  • WJH-13-1688.pdf
View BVdb publication page



Causal Effects of Genetically Predicted Iron Status on Sepsis: A Two-Sample Bidirectional Mendelian Randomization Study.

Frontiers In Nutrition
Hu, Yuanlong Y; Cheng, Xiaomeng X; Mao, Huaiyu H; Chen, Xianhai X; Cui, Yue Y; Qiu, Zhanjun Z
Publication Date: 2021

Variant appearance in text: rs1800562
PubMed Link: 34869523
Variant Present in the following documents:
  • Main text
  • fnut-08-747547.pdf
View BVdb publication page



Can lightning strike twice? Wild-type transthyretin cardiac amyloidosis associated with rare liver disease.

Oxford Medical Case Reports
Bhattacharya, Priyanka T PT; Fox, Alyson N AN; Marboe, Charles C CC; Lagana, Stephen M SM; Remotti, Helen E HE; D'Armiento, Jeanine M JM; Goldklang, Monica P MP; Eisenberger, Andrew B AB; Griffin, Jan M JM; Maurer, Mathew S MS
Publication Date: 2021-11

Variant appearance in text: HFE: C282Y
PubMed Link: 34858627
Variant Present in the following documents:
  • Main text
  • omab113.pdf
View BVdb publication page



Hemophagocytic Lymphohistiocytosis Complicated by Acute Respiratory Distress Syndrome and Multiorgan Failure.

Journal Of Investigative Medicine High Impact Case Reports
Liu, Louisa L; Bashir, Hanad H; Awada, Hassan H; Alzubi, Jafar J; Lane, Jason J
Publication Date: 2021

Variant appearance in text: HFE: C282Y
PubMed Link: 34850652
Variant Present in the following documents:
  • 10.1177_23247096211052180.pdf
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Hepatocellular Carcinoma in Non-Alcoholic Fatty Liver Disease: From Epidemiology to Diagnostic Approach.

Cancers
Grgurevic, Ivica I; Bozin, Tonci T; Mikus, Mislav M; Kukla, Michal M; O'Beirne, James J
Publication Date: 2021-11-21

Variant appearance in text: HFE: C282Y
PubMed Link: 34830997
Variant Present in the following documents:
  • cancers-13-05844.pdf
View BVdb publication page