Variant ID: 6-26091179-C-G

NM_000410.3(HFE):c.187C>G;(p.H63D)

This variant was identified in 942 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: H63D
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: H63D
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: rs1799945
PubMed Link: 35637428
Variant Present in the following documents:
  • Main text
  • 12263_2022_Article_708.pdf
View BVdb publication page



Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes.

Genes
Dzitkowska-Zabielska, Magdalena M; Bojarczuk, Aleksandra A; Borczyk, Małgorzata M; Piechota, Marcin M; Korostyński, Michał M; Adamczyk, Jakub Grzegorz JG; Trybek, Grzegorz G; Massidda, Myosotis M; Cięszczyk, Paweł P
Publication Date: 2022-05-12

Variant appearance in text: HFE: H63D; rs1799945
PubMed Link: 35627255
Variant Present in the following documents:
  • Main text
  • genes-13-00870.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: rs1799945
PubMed Link: 35501403
Variant Present in the following documents:
  • 42003_2022_Article_3351.pdf
View BVdb publication page



Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy.

European Heart Journal. Case Reports
Chen, Vincent V; Knight, Bradley P BP; McNally, Elizabeth M EM
Publication Date: 2022-03

Variant appearance in text: HFE: H63D
PubMed Link: 35474678
Variant Present in the following documents:
  • ytac105.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: rs1799945
PubMed Link: 35468817
Variant Present in the following documents:
  • 12887_2022_Article_3277.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: H63D
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: H63D
PubMed Link: 35457051
Variant Present in the following documents:
  • ijms-23-04230.pdf
View BVdb publication page



Deciphering the Role of the rs2651899, rs10166942, and rs11172113 Polymorphisms in Migraine: A Meta-Analysis.

Medicina (Kaunas, Lithuania)
Siokas, Vasileios V; Liampas, Ioannis I; Aloizou, Athina-Maria AM; Papasavva, Maria M; Bakirtzis, Christos C; Lavdas, Eleftherios E; Liakos, Panagiotis P; Drakoulis, Nikolaos N; Bogdanos, Dimitrios P DP; Dardiotis, Efthimios E
Publication Date: 2022-03-29

Variant appearance in text: HFE: H63D
PubMed Link: 35454329
Variant Present in the following documents:
  • medicina-58-00491.pdf
View BVdb publication page



Juvenile Hemochromatosis due to a Homozygous Variant in the HJV Gene.

Case Reports In Pediatrics
Moreno-Risco, María-Belén MB; Méndez, Manuel M; Moreno-Carralero, María-Isabel MI; López-Moreno, Ana-María AM; Vagace-Valero, José-Manuel JM; Morán-Jiménez, María-José MJ
Publication Date: 2022

Variant appearance in text: HFE: 187C>G; His63Asp
PubMed Link: 35449524
Variant Present in the following documents:
  • CRIPE2022-7743748.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: H63D
PubMed Link: 35445529
Variant Present in the following documents:
  • JCMM-26-2995.pdf
View BVdb publication page



Hepcidin is potential regulator for renin activity.

Plos One
Piesanen, Jaakko J; Valjakka, Jarkko J; Niemelä, Sanna S; Borgenström, Marjut M; Nikkari, Seppo S; Hytönen, Vesa V; Määttä, Juha J; Kunnas, Tarja T
Publication Date: 2022

Variant appearance in text: HFE: H63D
PubMed Link: 35442992
Variant Present in the following documents:
  • pone.0267343.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: 187C>G; rs1799945
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: His63Asp
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: 187C>G; His63Asp
PubMed Link: 35395838
Variant Present in the following documents:
  • 41525_2022_295_MOESM5_ESM.xlsx
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: His63Asp
PubMed Link: 35353274
Variant Present in the following documents:
  • 11011_2022_Article_975.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: H63D
PubMed Link: 35340277
Variant Present in the following documents:
  • f1000research-11-121457.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: H63D
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: H63D; rs1799945
PubMed Link: 35327526
Variant Present in the following documents:
  • biomedicines-10-00724.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: H63D
PubMed Link: 35252185
Variant Present in the following documents:
  • fcell-10-821014.pdf
View BVdb publication page



A Novel TP53 Tandem Duplication in a Child with Li-Fraumeni Syndrome.

Cold Spring Harbor Molecular Case Studies
Xu, Feng F; Aref-Eshghi, Erfan E; Wu, Jinhua J; Schubert, Jeffrey J; Wertheim, Gerald G; Bhatti, Tricia T; Pogoriler, Jennifer J; Patel, Maha M; Cao, Kajia K; Long, Ariel A; Fan, Zhiqian Z; Denenberg, Elizabeth E; Fanning, Elizabeth E; Wilmoth, Donna D; Luo, Minjie M; Conlin, Laura L; Dain, Aleksandra Sarah AS; Baldino, Sarah S; Zelley, Kristin K; Balamuth, Naomi J NJ; Macfarland, Suzanne S; Li, Marilyn M MM; Zhong, Yiming Y
Publication Date: 2022-03-01

Variant appearance in text: HFE: His63Asp
PubMed Link: 35232817
Variant Present in the following documents:
  • MCS006181Xu.pdf
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: H63D
PubMed Link: 35207647
Variant Present in the following documents:
  • jpm-12-00158.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: His63Asp
PubMed Link: 35204362
Variant Present in the following documents:
  • diagnostics-12-00272.pdf
View BVdb publication page



Perspectives in Sports Genomics.

Biomedicines
Ginevičienė, Valentina V; Utkus, Algirdas A; Pranckevičienė, Erinija E; Semenova, Ekaterina A EA; Hall, Elliott C R ECR; Ahmetov, Ildus I II
Publication Date: 2022-01-27

Variant appearance in text: HFE: H63D; rs1799945
PubMed Link: 35203507
Variant Present in the following documents:
  • biomedicines-10-00298.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: H63D
PubMed Link: 35185447
Variant Present in the following documents:
  • fnins-15-794809.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: H63D
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: H63D
PubMed Link: 35126838
Variant Present in the following documents:
  • WJH-14-1.pdf
View BVdb publication page



The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos.

Medicine
Punzalan, Felix Eduardo R FER; Cutiongco-de la Paz, Eva Maria C EMC; Nevado, Jose Jr B JJB; Magno, Jose Donato A JDA; Ona, Deborah Ignacia D DID; Aman, Aimee Yvonne Criselle L AYCL; Tiongson, Marc Denver A MDA; Llanes, Elmer Jasper B EJB; Reganit, Paul Ferdinand M PFM; Tiongco, Richard Henry P RHP; Santos, Lourdes Ella G LEG; Aherrera, Jaime Alfonso M JAM; Abrahan, Lauro L LL; Agustin, Charlene F CF; Bejarin, Adrian John P AJP; Sy, Rody G RG
Publication Date: 2022-02-04

Variant appearance in text: rs1799945
PubMed Link: 35119014
Variant Present in the following documents:
  • Main text
  • medi-101-e28703.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: H63D; rs1799945
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx
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: H63D
PubMed Link: 35096841
Variant Present in the following documents:
  • fcell-09-817104.pdf
View BVdb publication page



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: His63Asp
PubMed Link: 35057500
Variant Present in the following documents:
  • nutrients-14-00319.pdf
View BVdb publication page



Polymorphism of Transferrin Gene Impacts the Mediating Effects of Psychotic Symptoms on the Relationship between Oxidative Stress and Cognition in Patients with Chronic Schizophrenia.

Antioxidants (Basel, Switzerland)
Chen, Pinhong P; Wang, Dongmei D; Xiu, Meihong M; Chen, Dachun D; Lackey, Blake B; Wu, Hanjing E HE; Zhou, Jin J; Zhang, Xiangyang X
Publication Date: 2022-01-06

Variant appearance in text: HFE: H63D
PubMed Link: 35052629
Variant Present in the following documents:
  • antioxidants-11-00125.pdf
View BVdb publication page



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: His63Asp
PubMed Link: 35052458
Variant Present in the following documents:
  • Main text
  • genes-13-00118.pdf
View BVdb publication page



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: rs1799945
PubMed Link: 35052344
Variant Present in the following documents:
  • Main text
  • genes-13-00005.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: H63D; rs1799945
PubMed Link: 35047832
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.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: H63D
PubMed Link: 35011009
Variant Present in the following documents:
  • nutrients-14-00132.pdf
View BVdb publication page



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: 187C>G; H63D
PubMed Link: 35003970
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000020135.pdf
View BVdb publication page



Genetic Variants Assessing Crohn's Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey.

Bioinformatics And Biology Insights
Noel, Dago Dougba DD; Marinella, Pinelli P; Mauro, Giacomelli G; Tripodi, Serena Ilaria SI; Pin, Alessia A; Serena, Arrigo A; Matteo, Bramuzzo B; Giuseppe, Fuoti Maurizio FM; Patrizia, Alvisi A; Stefano, Calza C; Tommasini, Alberto A; Raffaele, Badolato B
Publication Date: 2021

Variant appearance in text: rs1799945
PubMed Link: 35002226
Variant Present in the following documents:
  • Main text
  • 10.1177_11779322211055285.pdf
View BVdb publication page



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: H63D
PubMed Link: 34987796
Variant Present in the following documents:
  • Main text
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: His63Asp
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: rs1799945
PubMed Link: 34940629
Variant Present in the following documents:
  • Main text
  • metabolites-11-00871.pdf
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Association of muscle fiber composition with health and exercise-related traits in athletes and untrained subjects.

Biology Of Sport
Hall, Elliott C R ECR; Semenova, Ekaterina A EA; Bondareva, Elvira A EA; Borisov, Oleg V OV; Andryushchenko, Oleg N ON; Andryushchenko, Liliya B LB; Zmijewski, Piotr P; Generozov, Edward V EV; Ahmetov, Ildus I II
Publication Date: 2021-10

Variant appearance in text: HFE: H63D
PubMed Link: 34937976
Variant Present in the following documents:
  • JBS-38-102923.pdf
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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: H63D
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: H63D
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: H63D
PubMed Link: 34904038
Variant Present in the following documents:
  • Main text
  • WJH-13-1688.pdf
View BVdb publication page



Healthy Sleep Associated With Lower Risk of Hypertension Regardless of Genetic Risk: A Population-Based Cohort Study.

Frontiers In Cardiovascular Medicine
Li, Zhi-Hao ZH; Huang, Qing-Mei QM; Gao, Xiang X; Chung, Vincent C H VCH; Zhang, Pei-Dong PD; Shen, Dong D; Zhang, Xi-Ru XR; Zhong, Wen-Fang WF; Liu, Dan D; Chen, Pei-Liang PL; Chen, Qing Q; Cai, Miao-Chun MC; Cheng, Xin X; Yang, Hai-Lian HL; Song, Wei-Qi WQ; Wu, Xian-Bo XB; Kraus, Virginia Byers VB; Mao, Chen C
Publication Date: 2021

Variant appearance in text: rs1799945
PubMed Link: 34869684
Variant Present in the following documents:
  • Data_Sheet_1.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: H63D
PubMed Link: 34850652
Variant Present in the following documents:
  • 10.1177_23247096211052180.pdf
View BVdb publication page



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: H63D; rs1799945
PubMed Link: 34830997
Variant Present in the following documents:
  • Main text
  • cancers-13-05844.pdf
View BVdb publication page



Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Genes
Ravasi, Giulia G; Pelucchi, Sara S; Bertola, Francesca F; Capelletti, Martina Maria MM; Mariani, Raffaella R; Piperno, Alberto A
Publication Date: 2021-11-09

Variant appearance in text: HFE: H63D
PubMed Link: 34828384
Variant Present in the following documents:
  • Main text
  • genes-12-01778.pdf
View BVdb publication page



HFE hemochromatosis: an overview about therapeutic recommendations.

Hematology, Transfusion And Cell Therapy
Cancado, Rodolfo D RD; Alvarenga, Aline Morgan AM; Santos, Paulo Caleb Jl PCJ
Publication Date: 2021-11-17

Variant appearance in text: HFE: His63Asp
PubMed Link: 34824033
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



The diagnostic trajectory of infants and children with clinical features of genetic disease.

Npj Genomic Medicine
Schroeder, Brock E BE; Gonzaludo, Nina N; Everson, Katie K; Than, Kyi-Sin KS; Sullivan, Jeff J; Taft, Ryan J RJ; Belmont, John W JW
Publication Date: 2021-11-22

Variant appearance in text: HFE: H63D
PubMed Link: 34811359
Variant Present in the following documents:
  • 41525_2021_260_MOESM1_ESM.pdf
View BVdb publication page



Iron-Storage Disorder Presenting as Chronic Diarrhea.

Cureus
Vobugari, Nikitha N; Kim, Jeffrey J; Gandhi, Kejal D KD; Lee, Zone-En ZE; Smith, Hedy P HP
Publication Date: 2021-10

Variant appearance in text: HFE: H63D
PubMed Link: 34804717
Variant Present in the following documents:
  • Main text
  • cureus-0013-00000018864.pdf
View BVdb publication page



Molecular genetics of β-thalassemia: A narrative review.

Medicine
Jaing, Tang-Her TH; Chang, Tsung-Yen TY; Chen, Shih-Hsiang SH; Lin, Chen-Wei CW; Wen, Yu-Chuan YC; Chiu, Chia-Chi CC
Publication Date: 2021-11-12

Variant appearance in text: HFE: H63D
PubMed Link: 34766559
Variant Present in the following documents:
  • Main text
  • medi-100-e27522.pdf
View BVdb publication page



Prediction and Identification of Power Performance Using Polygenic Models of Three Single-Nucleotide Polymorphisms in Chinese Elite Athletes.

Frontiers In Genetics
Yang, Ruoyu R; Jin, Feng F; Wang, Liyan L; Shen, Xunzhang X; Guo, Qi Q; Song, Haihan H; Hu, Jingyun J; Zhao, Qiang Q; Wan, Jian J; Cai, Ming M
Publication Date: 2021

Variant appearance in text: HFE: His63Asp; rs1799945
PubMed Link: 34691150
Variant Present in the following documents:
  • Main text
  • fgene-12-726552.pdf
View BVdb publication page



Cardiometabolic, Lifestyle, and Nutritional Factors in Relation to Varicose Veins: A Mendelian Randomization Study.

Journal Of The American Heart Association
Yuan, Shuai S; Bruzelius, Maria M; Damrauer, Scott M SM; Larsson, Susanna C SC
Publication Date: 2021-11-02

Variant appearance in text: rs1799945
PubMed Link: 34666504
Variant Present in the following documents:
  • JAH3-10-e022286-s001.pdf
  • JAH3-10-e022286.pdf
View BVdb publication page



Astrocyte dysfunction in Parkinson's disease: from the perspectives of transmitted α-synuclein and genetic modulation.

Translational Neurodegeneration
Wang, Changjing C; Yang, Tongtong T; Liang, Meiyu M; Xie, Junxia J; Song, Ning N
Publication Date: 2021-10-18

Variant appearance in text: HFE: H63D
PubMed Link: 34657636
Variant Present in the following documents:
  • Main text
  • 40035_2021_Article_265.pdf
View BVdb publication page



Hereditary hemochromatosis and JAK2-positive polycythemia vera.

Clinical Case Reports
Radwan, Ahmed A; Othman, Ibraheem I
Publication Date: 2021-10

Variant appearance in text: HFE: H63D
PubMed Link: 34631089
Variant Present in the following documents:
  • Main text
  • CCR3-9-e04907.pdf
View BVdb publication page



What's Important and New in Hemochromatosis?

Clinical Hematology International
Brissot, Pierre P; Brissot, Eolia E
Publication Date: 2020-12

Variant appearance in text: HFE: H63D
PubMed Link: 34595455
Variant Present in the following documents:
  • Main text
  • CHI-2-4-143.pdf
View BVdb publication page



Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.

Orphanet Journal Of Rare Diseases
Wu, Liyan L; Zhang, Wei W; Li, Yanmeng Y; Zhou, Donghu D; Zhang, Bei B; Xu, Anjian A; Wu, Zhen Z; Wu, Lina L; Li, Shuxiang S; Wang, Xiaoming X; Zhao, Xinyan X; Wang, Qianyi Q; Li, Min M; Wang, Yu Y; You, Hong H; Huang, Jian J; Ou, Xiaojuan X; Jia, Jidong J
Publication Date: 2021-09-28

Variant appearance in text: HFE: H63D
PubMed Link: 34583728
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_2020.pdf
View BVdb publication page



Significance of Hereditary Hemochromatosis Gene (HFE) Mutations in Chronic Hepatitis C and Hepatocellular Carcinoma Patients in Egypt: A Pilot Study.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Dawood, Reham M RM; Abd El Meguid, Mai M; Elrobe, Walied W; Salum, Ghada M GM; Zayed, Naglaa N; Mousa, Sherief S; Medhat, Eman E
Publication Date: 2021-09-01

Variant appearance in text: HFE: His63Asp
PubMed Link: 34582652
Variant Present in the following documents:
  • APJCP-22-2837.pdf
View BVdb publication page



Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology
Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K
Publication Date: 2021-09-27

Variant appearance in text: HFE: His63Asp; rs1799945
PubMed Link: 34580418
Variant Present in the following documents:
  • 42003_2021_2642_MOESM4_ESM.xlsx
View BVdb publication page



Anemia in Sports: A Narrative Review.

Life (Basel, Switzerland)
Damian, Marc-Tudor MT; Vulturar, Romana R; Login, Cristian Cezar CC; Damian, Laura L; Chis, Adina A; Bojan, Anca A
Publication Date: 2021-09-20

Variant appearance in text: HFE: H63D
PubMed Link: 34575136
Variant Present in the following documents:
  • Main text
  • life-11-00987.pdf
View BVdb publication page



CSF Diagnostics: A Potentially Valuable Tool in Neurodegenerative and Inflammatory Disorders Involving Motor Neurons: A Review.

Diagnostics (Basel, Switzerland)
Krause, Karsten K; Wulf, Maximilian M; Sommer, Paula P; Barkovits, Katalin K; Vorgerd, Matthias M; Marcus, Katrin K; Eggers, Britta B
Publication Date: 2021-08-24

Variant appearance in text: HFE: H63D
PubMed Link: 34573864
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01522.pdf
View BVdb publication page



Wilson's Disease: Facing the Challenge of Diagnosing a Rare Disease.

Biomedicines
Sánchez-Monteagudo, Ana A; Ripollés, Edna E; Berenguer, Marina M; Espinós, Carmen C
Publication Date: 2021-08-28

Variant appearance in text: HFE: H63D
PubMed Link: 34572285
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01100.pdf
View BVdb publication page



Evidence That HFE H63D Variant Is a Potential Disease Modifier in Cluster Headache.

Journal Of Molecular Neuroscience : Mn
Papasavva, Maria M; Vikelis, Michail M; Katsarou, Martha-Spyridoula MS; Siokas, Vasileios V; Dermitzakis, Emmanouil E; Papademetriou, Christoforos C; Karakostis, Konstantinos K; Lazopoulos, George G; Dardiotis, Efthimios E; Drakoulis, Nikolaos N
Publication Date: 2021-09-27

Variant appearance in text: HFE: H63D; rs1799945
PubMed Link: 34570359
Variant Present in the following documents:
  • 12031_2021_Article_1913.pdf
View BVdb publication page



In vitro effect of ferrous sulphate on bovine spermatozoa motility parameters, viability and Annexin V-labeled membrane changes.

Plos One
Knazicka, Zuzana Z; Duranova, Hana H; Fialkova, Veronika V; Miskeje, Michal M; Jambor, Tomas T; Makarevich, Alexander V AV; Roychoudhury, Shubhadeep S; Kovacik, Anton A; Massanyi, Peter P; Lukac, Norbert N
Publication Date: 2021

Variant appearance in text: HFE: H63D
PubMed Link: 34555113
Variant Present in the following documents:
  • pone.0257766.pdf
View BVdb publication page



Estimating the Population Benefits of Blood Pressure Lowering: A Wide-Angled Mendelian Randomization Study in UK Biobank.

Journal Of The American Heart Association
Higgins, Hannah H; Mason, Amy M AM; Larsson, Susanna C SC; Gill, Dipender D; Langenberg, Claudia C; Burgess, Stephen S
Publication Date: 2021-09-07

Variant appearance in text: rs1799945
PubMed Link: 34459231
Variant Present in the following documents:
  • JAH3-10-e021098.pdf
  • JAH3-10-e021098-s001.pdf
View BVdb publication page



HFE Genotype, Ferritin Levels and Transferrin Saturation in Patients with Suspected Hereditary Hemochromatosis.

Genes
Sandnes, Miriam M; Vorland, Marta M; Ulvik, Rune J RJ; Reikvam, Håkon H
Publication Date: 2021-07-28

Variant appearance in text: HFE: H63D
PubMed Link: 34440336
Variant Present in the following documents:
  • Main text
  • genes-12-01162.pdf
View BVdb publication page