HR c.845G>A ;(p.C282Y)

Variant ID: 8-21985110-C-T

NM_005144.4(HR):c.845G>A;(p.C282Y)

This variant was identified in 32 publications

View GRCh38 version.




Publications:


Amlodipine rescues advanced iron overload cardiomyopathy in hemojuvelin knockout murine model: Clinical implications.

Frontiers In Cardiovascular Medicine
Zhabyeyev, Pavel P; Sadasivan, Chandu C; Shah, Saumya S; Wang, Faqi F; Oudit, Gavin Y GY
Publication Date: 2023

Variant appearance in text: HR: C282Y
PubMed Link: 37153462
Variant Present in the following documents:
  • fcvm-10-1129349.pdf
View BVdb publication page



Epidemiologic, Genetic, Pathogenic, Metabolic, Epigenetic Aspects Involved in NASH-HCC: Current Therapeutic Strategies.

Cancers
Gutiérrez-Cuevas, Jorge J; Lucano-Landeros, Silvia S; López-Cifuentes, Daniel D; Santos, Arturo A; Armendariz-Borunda, Juan J
Publication Date: 2022-12-20

Variant appearance in text: HR: C282Y
PubMed Link: 36612019
Variant Present in the following documents:
  • Main text
  • cancers-15-00023.pdf
View BVdb publication page



ECR 2022 Book of Abstracts.

Insights Into Imaging
Publication Date: 2022-12-31

Variant appearance in text: HR: C282Y
PubMed Link: 36585546
Variant Present in the following documents:
  • 13244_2022_Article_1337.pdf
View BVdb publication page



Association between serum ferritin level and the various stages of non-alcoholic fatty liver disease: A systematic review.

Frontiers In Medicine
Wang, Huanqiu H; Sun, Ruyu R; Yang, Sisi S; Ma, Xueqing X; Yu, Chengbo C
Publication Date: 2022

Variant appearance in text: HR: C282Y
PubMed Link: 35991666
Variant Present in the following documents:
  • Main text
  • fmed-09-934989.pdf
View BVdb publication page



Diagnostic, Prognostic, and Mechanistic Biomarkers of Diabetes Mellitus-Associated Cognitive Decline.

International Journal Of Molecular Sciences
Ehtewish, Hanan H; Arredouani, Abdelilah A; El-Agnaf, Omar O
Publication Date: 2022-05-30

Variant appearance in text: HR: C282Y
PubMed Link: 35682821
Variant Present in the following documents:
  • Main text
  • ijms-23-06144.pdf
View BVdb publication page



Modeling Nonischemic Genetic Cardiomyopathies Using Induced Pluripotent Stem Cells.

Current Cardiology Reports
Khedro, Tarek T; Duran, Jason M JM; Adler, Eric D ED
Publication Date: 2022-06

Variant appearance in text: HR: C282Y
PubMed Link: 35657495
Variant Present in the following documents:
  • 11886_2022_Article_1683.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: HR: C282Y
PubMed Link: 35331317
Variant Present in the following documents:
  • Main text
  • 13098_2022_Article_814.pdf
View BVdb publication page



Porphyria cutanea tarda and patterns of long-term sick leave and disability pension: a 24-year nationwide matched-cohort study.

Orphanet Journal Of Rare Diseases
Baravelli, Carl Michael CM; Aarsand, Aasne Karine AK; Sandberg, Sverre S; Tollånes, Mette Christophersen MC
Publication Date: 2022-02-22

Variant appearance in text: HR: C282Y
PubMed Link: 35193623
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2201.pdf
View BVdb publication page



Alcohol Consumption and Cardiovascular Outcomes in Patients With Nonalcoholic Fatty Liver Disease: A Population-Based Cohort Study.

Hepatology Communications
Janjua, Malik M; Knuiman, Matthew M; Divitini, Mark M; McQuillan, Brendan B; Olynyk, John K JK; Jeffrey, Gary P GP; Adams, Leon A LA
Publication Date: 2022-03

Variant appearance in text: HR: C282Y
PubMed Link: 34931492
Variant Present in the following documents:
  • Main text
  • HEP4-6-526.pdf
View BVdb publication page



Albuminuria Is Associated with Hepatic Iron Load in Patients with Non-Alcoholic Fatty Liver Disease and Metabolic Syndrome.

Journal Of Clinical Medicine
Abbate, Manuela M; Montemayor, Sofía S; Mascaró, Catalina M CM; Casares, Miguel M; Gómez, Cristina C; Ugarriza, Lucía L; Tejada, Silvia S; Abete, Itziar I; Zulet, M Ángeles MÁ; Sureda, Antoni A; Martínez, J Alfredo JA; Tur, Josep A JA
Publication Date: 2021-07-20

Variant appearance in text: HR: C282Y
PubMed Link: 34300354
Variant Present in the following documents:
  • Main text
  • jcm-10-03187.pdf
View BVdb publication page



Iron metabolism imbalance at the time of listing increases overall and infectious mortality after liver transplantation.

World Journal Of Gastroenterology
Fallet, Elodie E; Rayar, Michel M; Landrieux, Amandine A; Camus, Christophe C; Houssel-Debry, Pauline P; Jezequel, Caroline C; Legros, Ludivine L; Uguen, Thomas T; Ropert-Bouchet, Martine M; Boudjema, Karim K; Guyader, Dominique D; Bardou-Jacquet, Edouard E
Publication Date: 2020-04-28

Variant appearance in text: HR: C282Y
PubMed Link: 32390704
Variant Present in the following documents:
  • WJG-26-1938.pdf
View BVdb publication page



Concomitant Acute Hepatic Failure and Renal Failure Induced by Intravenous Amiodarone: A Case Report and Literature Review.

Gastroenterology Research
Mohamed, Mujtaba M; Al-Hillan, Alsadiq A; Flores, Marcus M; Kaunzinger, Christian C; Mushtaq, Arman A; Asif, Arif A; Hossain, Mohammad M
Publication Date: 2020-02

Variant appearance in text: HR: C282Y
PubMed Link: 32095172
Variant Present in the following documents:
  • Main text
  • gr-13-040.pdf
View BVdb publication page



Risk of iron overload with chronic indiscriminate use of intravenous iron products in ESRD and IBD populations.

Heliyon
Rostoker, Guy G; Vaziri, Nosratola D ND
Publication Date: 2019-07

Variant appearance in text: HR: C282Y
PubMed Link: 31338466
Variant Present in the following documents:
  • Main text
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: HR: 845G>A; Cys282Tyr
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Real impact of liver cirrhosis on the development of hepatocellular carcinoma in various liver diseases-meta-analytic assessment.

Cancer Medicine
Tarao, Kazuo K; Nozaki, Akito A; Ikeda, Takaaki T; Sato, Akira A; Komatsu, Hirokazu H; Komatsu, Tatsuji T; Taguri, Masataka M; Tanaka, Katsuaki K
Publication Date: 2019-03

Variant appearance in text: HR: C282Y
PubMed Link: 30791221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iron Status and Risk of Stroke.

Stroke
Gill, Dipender D; Monori, Grace G; Tzoulaki, Ioanna I; Dehghan, Abbas A
Publication Date: 2018-12

Variant appearance in text: HR: C282Y
PubMed Link: 30571402
Variant Present in the following documents:
  • str-49-2815-s001.pdf
View BVdb publication page



A Supplement to TRANSFUSION Abstract Presentations from the AABB Annual Meeting Boston, MA, October 13-16, 2018.

Transfusion
Publication Date: 2018-10

Variant appearance in text: HR: C282Y
PubMed Link: 30211950
Variant Present in the following documents:
  • Main text
View BVdb publication page



Refractory Hepatic Hydrothorax: A Rare Complication of Systemic Sclerosis and Presinusoidal Portal Hypertension.

Case Reports In Hepatology
Abrams, Gary A GA; Chapman, Robert R; Horton, Samuel R W SRW
Publication Date: 2018

Variant appearance in text: HR: C282Y
PubMed Link: 29854501
Variant Present in the following documents:
  • Main text
  • CRIHEP2018-2704949.pdf
View BVdb publication page



Serum and salivary ferritin and Hepcidin levels in patients with chronic periodontitis and type 2 diabetes mellitus.

Bmc Oral Health
Guo, Lin-Na LN; Yang, Yan-Zong YZ; Feng, Yun-Zhi YZ
Publication Date: 2018-04-10

Variant appearance in text: HR: C282Y
PubMed Link: 29636044
Variant Present in the following documents:
  • 12903_2018_Article_524.pdf
View BVdb publication page



Labile plasma iron levels predict survival in patients with lower-risk myelodysplastic syndromes.

Haematologica
de Swart, Louise L; Reiniers, Chloé C; Bagguley, Timothy T; van Marrewijk, Corine C; Bowen, David D; Hellström-Lindberg, Eva E; Tatic, Aurelia A; Symeonidis, Argiris A; Huls, Gerwin G; Cermak, Jaroslav J; van de Loosdrecht, Arjan A AA; Garelius, Hege H; Culligan, Dominic D; Macheta, Mac M; Spanoudakis, Michail M; Panagiotidis, Panagiotis P; Krejci, Marta M; Blijlevens, Nicole N; Langemeijer, Saskia S; Droste, Jackie J; Swinkels, Dorine W DW; Smith, Alex A; de Witte, Theo T; ,
Publication Date: 2018-01

Variant appearance in text: HR: C282Y
PubMed Link: 29122992
Variant Present in the following documents:
  • 1030069.pdf
View BVdb publication page



27th Regional Congress of the ISBT, Copenhagen, Denmark, June 17-21, 2017.

Vox Sanguinis
Publication Date: 2017-06

Variant appearance in text: HR: C282Y
PubMed Link: 28608429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Puzzling role of genetic risk factors in human longevity: "risk alleles" as pro-longevity variants.

Biogerontology
Ukraintseva, Svetlana S; Yashin, Anatoliy A; Arbeev, Konstantin K; Kulminski, Alexander A; Akushevich, Igor I; Wu, Deqing D; Joshi, Gaurang G; Land, Kenneth C KC; Stallard, Eric E
Publication Date: 2016-02

Variant appearance in text: HR: C282Y
PubMed Link: 26306600
Variant Present in the following documents:
  • 10522_2015_Article_9600.pdf
View BVdb publication page



Comorbidities in patients with crystal diseases and hyperuricemia.

Rheumatic Diseases Clinics Of North America
Sattui, Sebastian E SE; Singh, Jasvinder A JA; Gaffo, Angelo L AL
Publication Date: 2014-05

Variant appearance in text: HR: C282Y
PubMed Link: 24703346
Variant Present in the following documents:
  • Main text
View BVdb publication page



Health effects of different dietary iron intakes: a systematic literature review for the 5th Nordic Nutrition Recommendations.

Food & Nutrition Research
Domellöf, Magnus M; Thorsdottir, Inga I; Thorstensen, Ketil K
Publication Date: 2013

Variant appearance in text: HR: C282Y
PubMed Link: 23858301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dietary iron intake, body iron stores, and the risk of type 2 diabetes: a systematic review and meta-analysis.

Bmc Medicine
Bao, Wei W; Rong, Ying Y; Rong, Shuang S; Liu, Liegang L
Publication Date: 2012-10-10

Variant appearance in text: HR: C282Y
PubMed Link: 23046549
Variant Present in the following documents:
  • 1741-7015-10-119.pdf
View BVdb publication page



Serum ferritin levels, socio-demographic factors and desferrioxamine therapy in multi-transfused thalassemia major patients at a government tertiary care hospital of Karachi, Pakistan.

Bmc Research Notes
Riaz, Haris H; Riaz, Talha T; Khan, Muhammad Ubaid MU; Aziz, Sina S; Ullah, Faizan F; Rehman, Anis A; Zafar, Qandeel Q; Kazi, Abdul Nafey AN
Publication Date: 2011-08-11

Variant appearance in text: HR: C282Y
PubMed Link: 21834969
Variant Present in the following documents:
  • 1756-0500-4-287.pdf
View BVdb publication page



Hereditary hemochromatosis (HFE) genotypes in heart failure: relation to etiology and prognosis.

Bmc Medical Genetics
Møller, Daniel V DV; Pecini, Redi R; Gustafsson, Finn F; Hassager, Christian C; Hedley, Paula P; Jespersgaard, Cathrine C; Torp-Pedersen, Christian C; Christiansen, Michael M; Køber, Lars V LV; ,
Publication Date: 2010-07-29

Variant appearance in text: HR: C282Y
PubMed Link: 20670400
Variant Present in the following documents:
  • 1471-2350-11-117.pdf
View BVdb publication page



Controlled human exposures to ambient pollutant particles in susceptible populations.

Environmental Health : A Global Access Science Source
Huang, Yuh-Chin T YC; Ghio, Andrew J AJ
Publication Date: 2009-07-25

Variant appearance in text: HR: C282Y
PubMed Link: 19630984
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations between the human MHC and sustained virologic response in the treatment of chronic hepatitis C virus infection.

Genes And Immunity
Rhodes, S L SL; Erlich, H H; Im, K A KA; Wang, J J; Li, J J; Bugawan, T T; Jeffers, L L; Tong, X X; Su, X X; Rosen, H R HR; Yee, L J LJ; Liang, T J TJ; Yang, H H; ,
Publication Date: 2008-06

Variant appearance in text: HR: C282Y
PubMed Link: 18418397
Variant Present in the following documents:
  • Main text
View BVdb publication page



A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload.

Bmc Medical Genetics
Cruz, Eugénia E; Vieira, Jorge J; Almeida, Susana S; Lacerda, Rosa R; Gartner, Andrea A; Cardoso, Carla S CS; Alves, Helena H; Porto, Graça G
Publication Date: 2006-03-01

Variant appearance in text: HR: Cys282Tyr
PubMed Link: 16509978
Variant Present in the following documents:
  • 1471-2350-7-16.pdf
View BVdb publication page



Blood lead level and risk of asthma.

Environmental Health Perspectives
Joseph, Christine L M CL; Havstad, Suzanne S; Ownby, Dennis R DR; Peterson, Edward L EL; Maliarik, Mary M; McCabe, Michael J MJ; Barone, Charles C; Johnson, Christine Cole CC
Publication Date: 2005-07

Variant appearance in text: HR: C282Y
PubMed Link: 16002380
Variant Present in the following documents:
  • Main text
  • ehp0113-000900.pdf
View BVdb publication page