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

Variant ID: 6-26091179-C-G

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

This variant was identified in 1007 publications

View GRCh38 version.




Publications:


A Rare Case of COVID-19 Vaccination-Induced Cholangiopathic Liver Injury.

Acg Case Reports Journal
Taj, Sobaan S; Sanekommu, Harshavardhan H; Johal, Anmol A; Ravilla, Jayasree J; Imburgio, Steven S; Dandu, Sowmya S; Vedire, Apurva A; Miller, Brett B; Hossain, Mohammad M
Publication Date: 2023-06

Variant appearance in text: HFE: H63D
PubMed Link: 37324828
Variant Present in the following documents:
  • Main text
  • ac9-10-e01079.pdf
View BVdb publication page



Genetic variants in HFE are associated with non-alcoholic fatty liver disease in lean individuals.

Jhep Reports : Innovation In Hepatology
Sun, Zewen Z; Pan, Xingchen X; Tian, Aowen A; Surakka, Ida I; Wang, Tao T; Jiao, Xu X; He, Shanshan S; Song, Jinfang J; Tian, Xin X; Tong, Dan D; Wen, Jianping J; Zhang, Yonggang Y; Liu, Wanqing W; Chen, Peng P
Publication Date: 2023-07

Variant appearance in text: HFE: H63D
PubMed Link: 37235137
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc4.pdf
  • main.pdf
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The Evolution of Iron-Related Comorbidities and Hospitalization in Patients with Hemochromatosis: An Analysis of the Nationwide Inpatient Sample.

Blood Science (Baltimore, Md.)
Abou Yassine, Ahmad A; MacDougall, Kira K; Sasso, Roula R; Shammaa, Youssef Y; Alsheikh, Mira M; Abureesh, Mohammad M; Dahabra, Loai L; Alshami, Mohammad M; Mulrooney, Stephen S
Publication Date: 2023-04

Variant appearance in text: HFE: H63D
PubMed Link: 37228771
Variant Present in the following documents:
  • bs9-5-131.pdf
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Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.

Genetics And Molecular Biology
Kersting, Nathalia N; Fontana, Juliana Cristine JC; Athayde, Fabiane Pohlmann de FP; Carlotto, Fernanda Marcante FM; Machado, Bruna Accorsi BA; Araújo, Cristiane da Silva Rodrigues de CDSR; Sekine, Leo L; Onsten, Tor Gunnar Hugo TGH; Leistner-Segal, Sandra S
Publication Date: 2023

Variant appearance in text: HFE: H63D
PubMed Link: 37216649
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-46-2-e20220230.pdf
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A Review: Pharmacological Activity and Phytochemical Profile of Abelmoschus esculentus (2010-2022).

Rsc Advances
Abdel-Razek, Marwa A M MAM; Abdelwahab, Miada F MF; Abdelmohsen, Usama Ramadan UR; Hamed, Ashraf N E ANE
Publication Date: 2023-05-15

Variant appearance in text: HFE: H63D
PubMed Link: 37213342
Variant Present in the following documents:
  • Main text
  • RA-013-D3RA01367G.pdf
View BVdb publication page



Case of Vibrio Vulnificus bacteremia in a patient heterozygous for HFE p.C282Y mutation and alcoholic liver cirrhosis.

Sage Open Medical Case Reports
Strubchevska, Kateryna K; Kozyk, Marko M; Marijanovich, Nicole N
Publication Date: 2023

Variant appearance in text: HFE: H63D
PubMed Link: 37205158
Variant Present in the following documents:
  • Main text
  • 10.1177_2050313X231172329.pdf
View BVdb publication page



Sex-Specific Features of the Correlation between GWAS-Noticeable Polymorphisms and Hypertension in Europeans of Russia.

International Journal Of Molecular Sciences
Ivanova, Tatiana T; Churnosova, Maria M; Abramova, Maria M; Plotnikov, Denis D; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Aristova, Inna I; Sorokina, Inna I; Churnosov, Mikhail M
Publication Date: 2023-04-25

Variant appearance in text: HFE: H63D; rs1799945
PubMed Link: 37175507
Variant Present in the following documents:
  • ijms-24-07799.pdf
View BVdb publication page



Non-alcoholic fatty liver disease in hemochromatosis probands with iron overload and HFE p.C282Y/p.C282Y.

Bmc Gastroenterology
Barton, James C JC; Barton, J Clayborn JC; Acton, Ronald T RT
Publication Date: 2023-04-28

Variant appearance in text: HFE: H63D; rs1799945
PubMed Link: 37118679
Variant Present in the following documents:
  • Main text
  • 12876_2023_Article_2763.pdf
View BVdb publication page



Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation.

Cureus
Eris, Tansu T; Yanik, Ahmet Mert AM; Demirtas, Derya D; Yilmaz, Asu Fergun AF; Toptas, Tayfur T
Publication Date: 2023-03

Variant appearance in text: HFE: H63D
PubMed Link: 37069863
Variant Present in the following documents:
  • Main text
  • cureus-0015-00000036253.pdf
View BVdb publication page



Imbalance of Essential Metals in Traumatic Brain Injury and Its Possible Link with Disorders of Consciousness.

International Journal Of Molecular Sciences
Squitti, Rosanna R; Reale, Giuseppe G; Tondolo, Vincenzo V; Crescenti, Daniela D; Bellini, Sonia S; Moci, Marco M; Caliandro, Pietro P; Padua, Luca L; Rongioletti, Mauro M
Publication Date: 2023-04-06

Variant appearance in text: HFE: H63D
PubMed Link: 37047843
Variant Present in the following documents:
  • ijms-24-06867.pdf
View BVdb publication page



The effect of systemic iron status on osteoarthritis: A mendelian randomization study.

Frontiers In Genetics
Ruan, Guangfeng G; Ying, Yi Y; Lu, Shilong S; Zhu, Zhaohua Z; Chen, Shibo S; Zeng, Muhui M; Lu, Ming M; Xue, Song S; Zhu, Jianwei J; Cao, Peihua P; Chen, Tianyu T; Wang, Xiaoshuai X; Li, Shengfa S; Li, Jia J; Liu, Yu Y; Liu, Yanqi Y; Zhang, Yan Y; Ding, Changhai C
Publication Date: 2023

Variant appearance in text: rs1799945
PubMed Link: 37007954
Variant Present in the following documents:
  • Main text
  • fgene-14-1122955.pdf
View BVdb publication page



Interpreting Iron Homeostasis in Congenital and Acquired Disorders.

Pharmaceuticals (Basel, Switzerland)
Scaramellini, Natalia N; Fischer, Dania D; Agarvas, Anand R AR; Motta, Irene I; Muckenthaler, Martina U MU; Mertens, Christina C
Publication Date: 2023-02-21

Variant appearance in text: HFE: H63D
PubMed Link: 36986429
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-16-00329.pdf
View BVdb publication page



The HFE p.H63D (p.His63Asp) Polymorphism Is a Modifier of ALS Outcome in Italian and French Patients with SOD1 Mutations.

Biomedicines
Canosa, Antonio A; Calvo, Andrea A; Mora, Gabriele G; Moglia, Cristina C; Brunetti, Maura M; Barberis, Marco M; Borghero, Giuseppe G; Caponnetto, Claudia C; Trojsi, Francesca F; Spataro, Rossella R; Volanti, Paolo P; Simone, Isabella Laura IL; Salvi, Fabrizio F; Logullo, Francesco Ottavio FO; Riva, Nilo N; Tremolizzo, Lucio L; Giannini, Fabio F; Mandrioli, Jessica J; Tanel, Raffaella R; Murru, Maria Rita MR; Mandich, Paola P; Conforti, Francesca Luisa FL; Zollino, Marcella M; Sabatelli, Mario M; Tarlarini, Claudia C; Lunetta, Christian C; Mazzini, Letizia L; D'Alfonso, Sandra S; Guy, Nathalie N; Meininger, Vincent V; Clavelou, Pierre P; Camu, William W; Chiò, Adriano A; On Behalf Of Italsgen Consortium,
Publication Date: 2023-02-24

Variant appearance in text: HFE: His63Asp; rs1799945
PubMed Link: 36979682
Variant Present in the following documents:
  • Main text
  • biomedicines-11-00704.pdf
View BVdb publication page



Letter to the editor regarding: "A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population". Clinica Chimica Acta 538 (2023) 211-215.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Atkins, Janice L JL; Lucas, Mitchell M; Pilling, Luke C LC; Melzer, David D
Publication Date: 2023-03-13

Variant appearance in text: HFE: H63D; rs1799945
PubMed Link: 36921681
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Peripheral and Central Iron Measures in Alcohol Use Disorder and Aging: A Quantitative Susceptibility Mapping Pilot Study.

International Journal Of Molecular Sciences
Adams, Aiden R AR; Li, Xinyi X; Byanyima, Juliana I JI; Vesslee, Sianneh A SA; Nguyen, Thanh D TD; Wang, Yi Y; Moon, Brianna B; Pond, Timothy T; Kranzler, Henry R HR; Witschey, Walter R WR; Shi, Zhenhao Z; Wiers, Corinde E CE
Publication Date: 2023-02-24

Variant appearance in text: rs1799945
PubMed Link: 36901892
Variant Present in the following documents:
  • Main text
  • ijms-24-04461.pdf
View BVdb publication page



Iron metabolism and ferroptosis in type 2 diabetes mellitus and complications: mechanisms and therapeutic opportunities.

Cell Death & Disease
Miao, Runyu R; Fang, Xinyi X; Zhang, Yanjiao Y; Wei, Jiahua J; Zhang, Yuxin Y; Tian, Jiaxing J
Publication Date: 2023-03-08

Variant appearance in text: HFE: H63D
PubMed Link: 36882414
Variant Present in the following documents:
  • 41419_2023_Article_5708.pdf
View BVdb publication page



Maternal factors associated with iron deficiency without anaemia in early pregnancy: ECLIPSES study.

Annals Of Hematology
Iglesias-Vázquez, Lucía L; Gimeno, Mercedes M; Coronel, Pilar P; Caspersen, Ida Henriette IH; Basora, Josep J; Arija, Victoria V
Publication Date: 2023-02-15

Variant appearance in text: HFE: H63D
PubMed Link: 36790457
Variant Present in the following documents:
  • Main text
  • 277_2023_Article_5123.pdf
View BVdb publication page



Iron as a therapeutic target in chronic liver disease.

World Journal Of Gastroenterology
Kouroumalis, Elias E; Tsomidis, Ioannis I; Voumvouraki, Argyro A
Publication Date: 2023-01-28

Variant appearance in text: HFE: H63D
PubMed Link: 36742167
Variant Present in the following documents:
  • WJG-29-616.pdf
View BVdb publication page



Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis.

Acg Case Reports Journal
Chaudhry, Hunza H; Sohal, Aalam A; Petrosyan, Arpine A; Laput, Gieric G; Roytman, Marina M; Prajapati, Devang D
Publication Date: 2023-01

Variant appearance in text: HFE: H63D
PubMed Link: 36713280
Variant Present in the following documents:
  • Main text
  • ac9-10-e00982.pdf
View BVdb publication page



Soluble Transferrin Receptor, Antioxidant Status and Cardiometabolic Risk in Apparently Healthy Individuals.

Antioxidants (Basel, Switzerland)
Suárez-Ortegón, Milton Fabian MF; Arbeláez, Alejandra A; Moreno-Navarrete, José María JM; Ortega-Ávila, José Guillermo JG; Mosquera, Mildrey M; Fernández-Real, José Manuel JM
Publication Date: 2022-12-22

Variant appearance in text: HFE: H63D
PubMed Link: 36670881
Variant Present in the following documents:
  • antioxidants-12-00019.pdf
View BVdb publication page



Impact of iron status on kidney outcomes in kidney transplant recipients.

Scientific Reports
Kim, Hyo Jeong HJ; Han, Ro R; Kang, Kyung Pyo KP; Ryu, Jung-Hwa JH; Kim, Myung-Gyu MG; Huh, Kyu Ha KH; Park, Jae Berm JB; Kim, Chan-Duck CD; Han, Seungyeup S; Kim, Hyung Woo HW; Kim, Beom Seok BS; Yang, Jaeseok J
Publication Date: 2023-01-17

Variant appearance in text: HFE: H63D
PubMed Link: 36650247
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28125.pdf
View BVdb publication page



Iron status and mental disorders: A Mendelian randomization study.

Frontiers In Nutrition
Qiu, Jiaqi J; Lian, Fuzhi F; Fang, Xuexian X
Publication Date: 2022

Variant appearance in text: rs1799945
PubMed Link: 36590208
Variant Present in the following documents:
  • Main text
  • fnut-09-1084860.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs1799945
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



H63D Homozygous Mutation: An Unusual Cause of Deranged Liver Function Test in an Elderly Patient.

Cureus
Nasrullah, Haris H; Nasrullah, Atif A; Ijaz, Naeem N; Hayat, Umar U
Publication Date: 2022-11

Variant appearance in text: HFE: H63D
PubMed Link: 36579242
Variant Present in the following documents:
  • Main text
  • cureus-0014-00000031840.pdf
View BVdb publication page



A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Hubacek, J A JA; Philipp, T T; Adamkova, V V; Majek, O O; Dusek, L L
Publication Date: 2022-12-23

Variant appearance in text: HFE: His63Asp; rs1799945
PubMed Link: 36572138
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Effects of Pre-Pregnancy Overweight/Obesity on the Pattern of Association of Hypertension Susceptibility Genes with Preeclampsia.

Life (Basel, Switzerland)
Abramova, Maria M; Churnosova, Maria M; Efremova, Olesya O; Aristova, Inna I; Reshetnikov, Evgeny E; Polonikov, Alexey A; Churnosov, Mikhail M; Ponomarenko, Irina I
Publication Date: 2022-12-03

Variant appearance in text: rs1799945
PubMed Link: 36556383
Variant Present in the following documents:
  • Main text
  • life-12-02018.pdf
View BVdb publication page



Gradient Boosting Machine Identified Predictive Variables for Breast Cancer Patients Pre- and Post-Radiotherapy: Preliminary Results of an 8-Year Follow-Up Study.

Antioxidants (Basel, Switzerland)
Rodríguez-Tomàs, Elisabet E; Arenas, Meritxell M; Baiges-Gaya, Gerard G; Acosta, Johana J; Araguas, Pablo P; Malave, Bárbara B; Castañé, Helena H; Jiménez-Franco, Andrea A; Benavides-Villarreal, Rocío R; Sabater, Sebastià S; Solà-Alberich, Rosa R; Camps, Jordi J; Joven, Jorge J
Publication Date: 2022-12-02

Variant appearance in text: HFE: H63D
PubMed Link: 36552602
Variant Present in the following documents:
  • antioxidants-11-02394.pdf
View BVdb publication page



Conference Proceedings - 6th International Conference on Molecular Diagnostics and Biomarker Discovery (MDBD 2022): Building Resilience in Biomedical Research : Penang, Malaysia. 11-13 October 2022.

Bmc Proceedings
Publication Date: 2022-12-21

Variant appearance in text: rs1799945
PubMed Link: 36544136
Variant Present in the following documents:
  • Main text
  • 12919_2022_Article_237.pdf
View BVdb publication page



Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs1799945
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.pdf
View BVdb publication page



Vascular Aging and Damage in Patients with Iron Metabolism Disorders.

Diagnostics (Basel, Switzerland)
Młodziński, Krzysztof K; Świątczak, Michał M; Rohun, Justyna J; Wolf, Jacek J; Narkiewicz, Krzysztof K; Hellmann, Marcin M; Daniłowicz-Szymanowicz, Ludmiła L
Publication Date: 2022-11-16

Variant appearance in text: HFE: H63D
PubMed Link: 36428877
Variant Present in the following documents:
  • Main text
  • diagnostics-12-02817.pdf
View BVdb publication page



Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Genome Medicine
Bowling, Kevin M KM; Thompson, Michelle L ML; Kelly, Melissa A MA; Scollon, Sarah S; Slavotinek, Anne M AM; Powell, Bradford C BC; Kirmse, Brian M BM; Hendon, Laura G LG; Brothers, Kyle B KB; Korf, Bruce R BR; Cooper, Gregory M GM; Greally, John M JM; Hurst, Anna C E ACE
Publication Date: 2022-11-21

Variant appearance in text: HFE: His63Asp
PubMed Link: 36414972
Variant Present in the following documents:
  • Main text
  • 13073_2022_1139_MOESM1_ESM.xlsx, sheet 1
  • 13073_2022_Article_1139.pdf
View BVdb publication page



Polycystic ovary syndrome and iron overload: biochemical link and underlying mechanisms with potential novel therapeutic avenues.

Bioscience Reports
Mathew, Marilyn M; Sivaprakasam, Sathish S; Phy, Jennifer L JL; Bhutia, Yangzom Doma YD; Ganapathy, Vadivel V
Publication Date: 2022-11-21

Variant appearance in text: HFE: H63D
PubMed Link: 36408981
Variant Present in the following documents:
  • Main text
  • bsr-43-bsr20212234.pdf
View BVdb publication page



Glaucoma-TrEl: A web-based interactive database to build evidence-based hypotheses on the role of trace elements in glaucoma.

Bmc Research Notes
Choudhari, Jyoti Kant JK; Eberhardt, Martin M; Chatterjee, Tanushree T; Hohberger, Bettina B; Vera, Julio J
Publication Date: 2022-11-18

Variant appearance in text: HFE: H63D
PubMed Link: 36401306
Variant Present in the following documents:
  • Main text
View BVdb publication page