Variant ID: 6-26091179-C-G

NM_000410.3(HFE):c.187C>G;(p.His63Asp)

This variant was identified in 742 publications




Publications:


Bone and joint complications in patients with hereditary hemochromatosis: a cross-sectional study of 93 patients.

Therapeutic Advances In Musculoskeletal Disease
CD Nguyen, V Morel, A Pierache, G Lion, B Cortet, RM Flipo, V Canva-Delcambre, J Paccou
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32728396
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Persistent Iron Deficiency Anemia in Patients with Celiac Disease Despite a Gluten-Free Diet.

Nutrients
G Stefanelli, A Viscido, S Longo, M Magistroni, G Latella
Publication Date: 2020-07-22

Variant appearance in text: HFE: H63D
PMID: 32708019
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Iron Deficiency Anemia in Children Residing in High and Low-Income Countries: Risk Factors, Prevention, Diagnosis and Therapy.

Mediterranean Journal Of Hematology And Infectious Diseases
E Mantadakis, E Chatzimichael, P Zikidou
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32670519
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Transient elevation of serum ferritin in a Sri Lankan with homozygosity for H63D mutation in the HFE gene: a case report.

Journal Of Medical Case Reports
W Wickramasinghe, C Karunathilaka, S Jayasinghe, L Gooneratne
Publication Date: 2020-07-09

Variant appearance in text: HFE: H63D
PMID: 32641120
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Exome sequencing for diagnosis of congenital hemolytic anemia.

Orphanet Journal Of Rare Diseases
L Mansour-Hendili, A Aissat, B Badaoui, M Sakka, C Gameiro, V Ortonne, O Wagner-Ballon, S Pissard, V Picard, K Ghazal, M Bahuau, C Guitton, Z Mansour, M Duplan, A Petit, N Costedoat-Chalumeau, M Michel, P Bartolucci, S Moutereau, B Funalot, F Galactéros
Publication Date: 2020-07-08

Variant appearance in text: HFE: H63D; rs1799945
PMID: 32641076
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Differences in the frequency of genetic variants associated with iron imbalance among global populations.

Plos One
MW Jallow, C Cerami, TG Clark, AM Prentice, S Campino
Publication Date: 2020

Variant appearance in text: rs1799945
PMID: 32609760
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Hereditary Hyperferritinemia-Cataract Syndrome in 3 Generations of a Family in East Tennessee.

Case Reports In Hematology
HA Worth, Z Marlette, D Aljadir, R Lands
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32547795
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Abnormal Serum Iron-Status Indicator Changes in Amyotrophic Lateral Sclerosis (ALS) Patients: A Meta-Analysis.

Frontiers In Neurology
L Wang, C Li, X Chen, S Li, H Shang
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32508736
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Effect of HFE Gene Mutation on Changes in Iron Metabolism Induced by Nordic Walking in Elderly Women.

Clinical Interventions In Aging
J Kortas, E Ziemann, J Antosiewicz
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32494128
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VLSI Structures for DNA Sequencing-A Survey.

Bioengineering (Basel, Switzerland)
MA Islam, PK Datta, H Myler
Publication Date: 2020-05-31

Variant appearance in text: HFE: H63D
PMID: 32486381
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From Environment to Genome and Back: A Lesson from HFE Mutations.

International Journal Of Molecular Sciences
R Rametta, M Meroni, P Dongiovanni
Publication Date: 2020-05-15

Variant appearance in text: HFE: 187C>G; H63D; rs1799945
PMID: 32429125
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Enabling routine β-thalassemia Prevention and Patient Management by scalable, combined Thalassemia and Hemochromatosis Mutation Analysis.

Bmc Medical Genetics
G Hashmi, A Qidwai, K Fernandez, M Seul
Publication Date: 2020-05-15

Variant appearance in text: HFE: H63D
PMID: 32414341
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Polycythemia and Anemia in Hereditary Hemochromatosis.

Cureus
AA Khan, Y Hadi, A Hassan, J Kupec
Publication Date: 2020-04-09

Variant appearance in text: HFE: H63D
PMID: 32399341
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Iron Absorption in Celiac Disease and Nutraceutical Effect of 7-Hydroxymatairesinol. Mini-Review.

Molecules (Basel, Switzerland)
I Zanella, G Paiardi, D Di Lorenzo, G Biasiotto
Publication Date: 2020-04-27

Variant appearance in text: HFE: H63D
PMID: 32349426
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Prevalence of iron deficiency in 62,685 women of seven race/ethnicity groups: The HEIRS Study.

Plos One
JC Barton, HH Wiener, RT Acton, PC Adams, JH Eckfeldt, VR Gordeuk, EL Harris, CE McLaren, H Harrison, GD McLaren, DM Reboussin
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32324809
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Marathon Run-induced Changes in the Erythropoietin-Erythroferrone-Hepcidin Axis are Iron Dependent.

International Journal Of Environmental Research And Public Health
M Tomczyk, J Kortas, D Flis, B Kaczorowska-Hac, A Grzybkowska, A Borkowska, E Lewicka, A Dabrowska-Kugacka, J Antosiewicz
Publication Date: 2020-04-17

Variant appearance in text: HFE: H63D
PMID: 32316587
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Inherited iron overload disorders.

Translational Gastroenterology And Hepatology
A Piperno, S Pelucchi, R Mariani
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32258529
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Clinical relationship between anemia and atrial fibrillation recurrence after catheter ablation without genetic background.

International Journal Of Cardiology. Heart & Vasculature
M Kim, M Hong, JY Kim, IS Kim, HT Yu, TH Kim, JS Uhm, B Joung, MH Lee, HN Pak
Publication Date: 2020-04

Variant appearance in text: N/A
PMID: 32258364
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Hemochromatosis As an Unusual Cause of Pancreatitis in an African-American Female of Child-bearing Age.

Cureus
A Hitawala, M Alomari, S Khazaaleh, A Alomari, MR Sanaka
Publication Date: 2020-03-04

Variant appearance in text: HFE: H63D
PMID: 32257719
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Ancestry-specific associations identified in genome-wide combined-phenotype study of red blood cell traits emphasize benefits of diversity in genomics.

Bmc Genomics
CJ Hodonsky, AR Baldassari, SA Bien, LM Raffield, HM Highland, CM Sitlani, GL Wojcik, R Tao, M Graff, W Tang, B Thyagarajan, S Buyske, M Fornage, LA Hindorff, Y Li, D Lin, AP Reiner, KE North, RJF Loos, C Kooperberg, CL Avery
Publication Date: 2020-03-14

Variant appearance in text: HFE: H63D; rs1799945
PMID: 32171239
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HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case.

Frontiers In Genetics
W Zhang, X Wang, W Duan, A Xu, X Zhao, J Huang, H You, P Brissot, X Ou, J Jia
Publication Date: 2020

Variant appearance in text: HFE: H63D
PMID: 32153640
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Assessing the implications of positive genomic screening results.

Personalized Medicine
M Waltz, KM Meagher, GE Henderson, KA Goddard, K Muessig, JS Berg, KE Weck, RJ Cadigan
Publication Date: 2020-03-03

Variant appearance in text: HFE: 187C>G; His63Asp
PMID: 32125936
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Liver involvement in patients with Gaucher disease types I and III.

Molecular Genetics And Metabolism Reports
RT Starosta, FPE Vairo, AD Dornelles, SP Basgalupp, M Siebert, MLA Pedroso, CTS Cerski, MR Álvares-da-Silva, IVD Schwartz
Publication Date: 2020-03

Variant appearance in text: HFE: His63Asp
PMID: 32099816
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Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways.

International Journal Of Molecular Sciences
E Karatas, M Bouchecareilh
Publication Date: 2020-02-21

Variant appearance in text: HFE: H63D
PMID: 32098273
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Histologic Lesions of Porto-Sinusoidal Vascular Disease Following Phlebotomy in Hemochromatosis.

Gastroenterology Research
T El Jabbour, KE McHugh, DT Patil, C Zuo, BH Koo, S Kim, H Lee
Publication Date: 2020-02

Variant appearance in text: HFE: H63D
PMID: 32095171
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Iron Status and Cancer Risk in UK Biobank: A Two-Sample Mendelian Randomization Study.

Nutrients
S Yuan, P Carter, M Vithayathil, S Kar, E Giovannucci, AM Mason, S Burgess, SC Larsson
Publication Date: 2020-02-19

Variant appearance in text: HFE: H63D; rs1799945
PMID: 32092884
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Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis.

Cold Spring Harbor Molecular Case Studies
MA Wilk, AT Braun, PM Farrell, A Laxova, DM Brown, JM Holt, CL Birch, N Sosonkina, BM Wilk, EA Worthey
Publication Date: 2020-02

Variant appearance in text: HFE: 187C>G; H63D; rs1799945
PMID: 32014855
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African-centric TP53 variant increases iron accumulation and bacterial pathogenesis but improves response to malaria toxin.

Nature Communications
KS Singh, JI Leu, T Barnoud, P Vonteddu, K Gnanapradeepan, C Lin, Q Liu, JC Barton, AV Kossenkov, DL George, ME Murphy, F Dotiwala
Publication Date: 2020-01-24

Variant appearance in text: HFE: H63D; rs1799945
PMID: 31980600
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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
YC Hou, HC Yu, R Martin, ET Cirulli, NM Schenker-Ahmed, M Hicks, IV Cohen, TJ Jönsson, R Heister, L Napier, CL Swisher, S Dominguez, H Tang, W Li, BA Perkins, J Barea, C Rybak, E Smith, K Duchicela, M Doney, P Brar, N Hernandez, EF Kirkness, AM Kahn, JC Venter, DS Karow, CT Caskey
Publication Date: 2020-01-24

Variant appearance in text: HFE: 187C>G
PMID: 31980526
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The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis.

European Journal Of Applied Physiology
EA Semenova, E Miyamoto-Mikami, EB Akimov, F Al-Khelaifi, H Murakami, H Zempo, ES Kostryukova, NA Kulemin, AK Larin, OV Borisov, M Miyachi, DV Popov, EA Boulygina, M Takaragawa, H Kumagai, H Naito, VP Pushkarev, DA Dyatlov, EV Lekontsev, YE Pushkareva, LB Andryushchenko, MA Elrayess, EV Generozov, N Fuku, II Ahmetov
Publication Date: 2020-01-22

Variant appearance in text: HFE: H63D; rs1799945
PMID: 31970519
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Impact of HFE variants and sex in lung cancer.

Plos One
SY Lee, V Walter, J Zhu, AC Salzberg, DJ Liu, JR Connor
Publication Date: 2019

Variant appearance in text: HFE: H63D
PMID: 31856248
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Asthma and hyperbilirubinemia: a new aspect to analyze?

Postepy Dermatologii I Alergologii
E Wasilewska, B Kaczorowska-Hać, B Burzyńska, S Małgorzewicz, E Jassem
Publication Date: 2019-10

Variant appearance in text: HFE: H63D
PMID: 31839784
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Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.

F1000Research
GC Ferreira, J Oberstaller, R Fonseca, TE Keller, SR Adapa, J Gibbons, C Wang, X Liu, C Li, M Pham, GW Dayhoff Ii, LM Duong, LT Reyes, LE Laratelli, D Franz, S Fatumo, AG Bari, A Freischel, L Fiedler, O Dokur, K Sharma, D Cragun, B Busby, RHY Jiang
Publication Date: 2019

Variant appearance in text: HFE: 187C>G; His63Asp; rs1799945
PMID: 31824661
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Mild Iron Overload as Seen in Individuals Homozygous for the Alpha-1 Antitrypsin Pi*Z Variant Does Not Promote Liver Fibrogenesis in HFE Knockout Mice.

Cells
N Guldiken, K Hamesch, SM Schuller, M Aly, C Lindhauer, CV Schneider, M Fromme, C Trautwein, P Strnad
Publication Date: 2019-11-09

Variant appearance in text: HFE: H63D
PMID: 31717526
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Consensus Statement by an Expert Panel on the Diagnosis and Management of Iron Deficiency Anemia in the Gulf Cooperation Council Countries.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre
A Aleem, F Alsayegh, S Keshav, A Alfadda, AA Alfadhli, A Al-Jebreen, F Al-Kasim, A Almuhaini, H Al-Zahrani, F Batwa, S Denic, A Jazzar, T Owaidah, M Qari, Y Qari, M Taha
Publication Date: 2019-11-05

Variant appearance in text: HFE: H63D
PMID: 31698356
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The Effectiveness of Different Doses of Iron Supplementation and the Prenatal Determinants of Maternal Iron Status in Pregnant Spanish Women: ECLIPSES Study.

Nutrients
L Iglesias Vázquez, V Arija, N Aranda, E Aparicio, N Serrat, F Fargas, F Ruiz, M Pallejà, P Coronel, M Gimeno, J Basora
Publication Date: 2019-10-10

Variant appearance in text: HFE: H63D
PMID: 31658725
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Multifactorial Etiology of Anemia in Celiac Disease and Effect of Gluten-Free Diet: A Comprehensive Review.

Nutrients
R Martín-Masot, MT Nestares, J Diaz-Castro, I López-Aliaga, MJM Alférez, J Moreno-Fernandez, J Maldonado
Publication Date: 2019-10-23

Variant appearance in text: HFE: H63D
PMID: 31652803
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Diagnosis and Treatment of Genetic HFE-Hemochromatosis: The Danish Aspect.

Gastroenterology Research
NT Milman, FV Schioedt, AE Junker, K Magnussen
Publication Date: 2019-10

Variant appearance in text: HFE: His63Asp
PMID: 31636772
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Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Pharmaceuticals (Basel, Switzerland)
LT Vlasveld, R Janssen, E Bardou-Jacquet, H Venselaar, H Hamdi-Roze, H Drakesmith, DW Swinkels
Publication Date: 2019-09-09

Variant appearance in text: HFE: His63Asp
PMID: 31505869
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GutSelf: Interindividual Variability in the Processing of Dietary Compounds by the Human Gastrointestinal Tract.

Molecular Nutrition & Food Research
B Walther, AM Lett, A Bordoni, L Tomás-Cobos, JA Nieto, D Dupont, F Danesi, DR Shahar, A Echaniz, R Re, AS Fernandez, A Deglaire, D Gille, A Schmid, G Vergères
Publication Date: 2019-11

Variant appearance in text: HFE: H63D
PMID: 31483113
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A genome-wide association and replication study of blood pressure in Ugandan early adolescents.

Molecular Genetics & Genomic Medicine
SA Lule, AJ Mentzer, B Namara, AG Muwenzi, B Nassanga, D Kizito, H Akurut, L Lubyayi, J Tumusiime, C Zziwa, F Akello, D Gurdasani, M Sandhu, L Smeeth, AM Elliott, EL Webb
Publication Date: 2019-10

Variant appearance in text: rs1799945
PMID: 31469255
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New insights into the role of iron in inflammation and atherosclerosis.

Ebiomedicine
A Cornelissen, L Guo, A Sakamoto, R Virmani, AV Finn
Publication Date: 2019-09

Variant appearance in text: rs1799945
PMID: 31416722
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Genetic Polymorphisms Implicated in Nonalcoholic Liver Disease or Selected Other Disorders Have No Influence on Drug-Induced Liver Injury.

Hepatology Communications
HL Bonkovsky, T Severson, P Nicoletti, H Barnhart, J Serrano, N Chalasani, RJ Fontana, PB Watkins, V Navarro, A Stolz, AK Daly, GP Aithal, J Odin,
Publication Date: 2019-08

Variant appearance in text: HFE: H63D; rs1799945
PMID: 31388624
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Risk of iron overload with chronic indiscriminate use of intravenous iron products in ESRD and IBD populations.

Heliyon
G Rostoker, ND Vaziri
Publication Date: 2019-07

Variant appearance in text: HFE: H63D
PMID: 31338466
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Heme biosynthesis and the porphyrias.

Molecular Genetics And Metabolism
JD Phillips
Publication Date: 2019-11

Variant appearance in text: HFE: H63D
PMID: 31326287
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Effects of Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease: A Mendelian Randomization Study.

Journal Of The American Heart Association
D Gill, CF Brewer, G Monori, DA Trégouët, N Franceschini, C Giambartolomei, , I Tzoulaki, A Dehghan
Publication Date: 2019-08-06

Variant appearance in text: rs1799945
PMID: 31310728
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Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Orphanet Journal Of Rare Diseases
X Kong, L Xie, H Zhu, L Song, X Xing, W Yang, X Chen
Publication Date: 2019-07-08

Variant appearance in text: HFE: H63D
PMID: 31286966
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Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.

American Journal Of Human Genetics
K Machini, O Ceyhan-Birsoy, DR Azzariti, H Sharma, P Rossetti, L Mahanta, L Hutchinson, H McLaughlin, , RC Green, M Lebo, HL Rehm
Publication Date: 2019-07-03

Variant appearance in text: HFE: 187C>G; His63Asp
PMID: 31256874
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Genetic studies of abdominal MRI data identify genes regulating hepcidin as major determinants of liver iron concentration.

Journal Of Hepatology
HR Wilman, CA Parisinos, N Atabaki-Pasdar, M Kelly, EL Thomas, S Neubauer, , A Mahajan, AD Hingorani, RS Patel, H Hemingway, PW Franks, JD Bell, R Banerjee, H Yaghootkar
Publication Date: 2019-09

Variant appearance in text: HFE: H63D; rs1799945
PMID: 31226389
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Associations of genetically determined iron status across the phenome: A mendelian randomization study.

Plos Medicine
D Gill, B Benyamin, LSP Moore, G Monori, A Zhou, F Koskeridis, E Evangelou, M Laffan, AP Walker, KK Tsilidis, A Dehghan, P Elliott, E Hyppönen, I Tzoulaki
Publication Date: 2019-06

Variant appearance in text: rs1799945
PMID: 31220083
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Investigation of new candidate genes in retinoblastoma using the TruSight One "clinical exome" gene panel.

Molecular Genetics & Genomic Medicine
D Akdeniz, SB Tuncer, R Kebudi, B Celik, G Kuru, S Kilic, O Sukruoglu Erdogan, M Avsar, S Buyukkapu Bay, S Tuncer, H Yazici
Publication Date: 2019-08

Variant appearance in text: HFE: His63Asp; rs1799945
PMID: 31207142
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Hepcidin and HFE Polymorphisms and Ferritin Level in β-Thalassemia Major.

International Journal Of Hematology-Oncology And Stem Cell Research
K Fekri, N Asle Rasouli, SA Tavallai Zavareh, M Jalil, F Moradi, M Hosseinpour, H Teimori
Publication Date: 2019-01-01

Variant appearance in text: HFE: H63D
PMID: 31205627
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Genetics and epigenetic factors of Wilson disease.

Annals Of Translational Medicine
V Medici, JM LaSalle
Publication Date: 2019-04

Variant appearance in text: HFE: H63D
PMID: 31179295
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29th Regional Congress of the ISBT, Basel, Switzerland, 22-26 June 2019.

Vox Sanguinis
.
Publication Date: 2019-06

Variant appearance in text: HFE: H63D
PMID: 31173375
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Polycythemia in Patients With Hereditary Hemochromatosis: Real or Myth?

Journal Of Clinical Medicine Research
S Asif, M Begemann, S Raza
Publication Date: 2019-06

Variant appearance in text: HFE: H63D
PMID: 31143309
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Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.

Annals Of Internal Medicine
MG Artin, D Stiles, K Kiryluk, WK Chung
Publication Date: 2019-05-07

Variant appearance in text: HFE: H63D
PMID: 31035287
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Associations of Common Variants in HFE and TMPRSS6 Genes with Hepcidin-25 and Iron Status Parameters in Patients with End-Stage Renal Disease.

Disease Markers
V Dopsaj, A Topić, M Savković, N Milinković, I Novaković, D Ćujić, S Simić-Ogrizović
Publication Date: 2019

Variant appearance in text: HFE: H63D
PMID: 30984307
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Iron Metabolism of the Skeletal Muscle and Neurodegeneration.

Frontiers In Neuroscience
M Halon-Golabek, A Borkowska, A Herman-Antosiewicz, J Antosiewicz
Publication Date: 2019

Variant appearance in text: HFE: H63D
PMID: 30949015
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PCSK7 gene variation bridges atherogenic dyslipidemia with hepatic inflammation in NAFLD patients.

Journal Of Lipid Research
P Dongiovanni, M Meroni, G Baselli, RM Mancina, M Ruscica, M Longo, R Rametta, A Cespiati, S Pelusi, N Ferri, V Ranzani, V Nobili, J Pihlajamaki, AL Fracanzani, S Badiali, S Petta, S Fargion, S Romeo, J Kozlitina, L Valenti
Publication Date: 2019-06

Variant appearance in text: HFE: H63D
PMID: 30918065
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Bivariate mixture models for the joint distribution of repeated serum ferritin and transferrin saturation measured 12 years apart in a cohort of healthy middle-aged Australians.

Plos One
CE McLaren, WP Chen, NA Bertalli, MB Delatycki, GG Giles, DR English, JL Hopper, KJ Allen, LC Gurrin
Publication Date: 2019

Variant appearance in text: HFE: H63D
PMID: 30913256
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Interrogation of human hematopoiesis at single-cell and single-variant resolution.

Nature Genetics
JC Ulirsch, CA Lareau, EL Bao, LS Ludwig, MH Guo, C Benner, AT Satpathy, VK Kartha, RM Salem, JN Hirschhorn, HK Finucane, MJ Aryee, JD Buenrostro, VG Sankaran
Publication Date: 2019-04

Variant appearance in text: rs1799945
PMID: 30858613
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Sport Nutrigenomics: Personalized Nutrition for Athletic Performance.

Frontiers In Nutrition
NS Guest, J Horne, SM Vanderhout, A El-Sohemy
Publication Date: 2019

Variant appearance in text: rs1799945
PMID: 30838211
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Deciphering the Iron Side of Stroke: Neurodegeneration at the Crossroads Between Iron Dyshomeostasis, Excitotoxicity, and Ferroptosis.

Frontiers In Neuroscience
N DeGregorio-Rocasolano, O Martí-Sistac, T Gasull
Publication Date: 2019

Variant appearance in text: HFE: H63D
PMID: 30837827
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Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload.

World Journal Of Hepatology
WN de Campos, JD Massaro, ELR Cançado, CEV Wiezel, AL Simões, AC Teixeira, FF de Souza, CT Mendes-Junior, ALC Martinelli, EA Donadi
Publication Date: 2019-02-27

Variant appearance in text: HFE: H63D; rs1799945
PMID: 30820268
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Acute liver injury in the context of immune checkpoint inhibitor-related colitis treated with infliximab.

Journal For Immunotherapy Of Cancer
HC Zhang, W Luo, Y Wang
Publication Date: 2019-02-18

Variant appearance in text: HFE: H63D
PMID: 30777137
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Genetic polymorphisms associated with reactive oxygen species and blood pressure regulation.

The Pharmacogenomics Journal
S Cuevas, VAM Villar, PA Jose
Publication Date: 2019-08

Variant appearance in text: rs1799945
PMID: 30723314
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The Relevancy of Data Regarding the Metabolism of Iron to Our Understanding of Deregulated Mechanisms in ALS; Hypotheses and Pitfalls.

Frontiers In Neuroscience
C Petillon, R Hergesheimer, H Puy, P Corcia, P Vourc'h, C Andres, Z Karim, H Blasco
Publication Date: 2018

Variant appearance in text: HFE: H63D
PMID: 30697143
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Interactive Effects between Chronic Lead Exposure and the Homeostatic Iron Regulator Transport HFE Polymorphism on the Human Red Blood Cell Mean Corpuscular Volume (MCV).

International Journal Of Environmental Research And Public Health
CJ Chen, TY Lin, CL Wang, CK Ho, HY Chuang, HS Yu
Publication Date: 2019-01-27

Variant appearance in text: HFE: H63D
PMID: 30691187
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Novel genetic and epigenetic factors of importance for inter-individual differences in drug disposition, response and toxicity.

Pharmacology & Therapeutics
VM Lauschke, Y Zhou, M Ingelman-Sundberg
Publication Date: 2019-05

Variant appearance in text: HFE: H63D; rs1799945
PMID: 30677473
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Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.

Haematologica
V Picard, C Guitton, I Thuret, C Rose, L Bendelac, K Ghazal, P Aguilar-Martinez, C Badens, C Barro, C Bénéteau, C Berger, P Cathébras, E Deconinck, J Delaunay, JM Durand, N Firah, F Galactéros, B Godeau, X Jaïs, JP de Jaureguiberry, C Le Stradic, F Lifermann, R Maffre, G Morin, J Perrin, V Proulle, M Ruivard, F Toutain, A Lahary, L Garçon
Publication Date: 2019-08

Variant appearance in text: HFE: His63Asp
PMID: 30655378
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Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.

Bmj (Clinical Research Ed.)
LC Pilling, J Tamosauskaite, G Jones, AR Wood, L Jones, CL Kuo, GA Kuchel, L Ferrucci, D Melzer
Publication Date: 2019-01-16

Variant appearance in text: HFE: H63D; rs1799945
PMID: 30651232
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Iron levels, genes involved in iron metabolism and antioxidative processes and lung cancer incidence.

Plos One
GM Sukiennicki, W Marciniak, M Muszyńska, P Baszuk, S Gupta, K Białkowska, K Jaworska-Bieniek, K Durda, M Lener, S Pietrzak, T Gromowski, K Prajzendanc, A Łukomska, P Waloszczyk, JZ Wójcik, R Scott, J Lubiński, A Jakubowska
Publication Date: 2019

Variant appearance in text: rs1799945
PMID: 30640897
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Iron Status and Risk of Stroke.

Stroke
D Gill, G Monori, I Tzoulaki, A Dehghan
Publication Date: 2018-12

Variant appearance in text: rs1799945
PMID: 30571402
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Quantification of liver iron overload disease with laser ablation inductively coupled plasma mass spectrometry.

Bmc Medical Imaging
P Kim, S Weiskirchen, R Uerlings, A Kueppers, F Stellmacher, A Viveiros, H Zoller, R Weiskirchen
Publication Date: 2018-12-04

Variant appearance in text: HFE: His63Asp
PMID: 30514216
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Liver Iron Load Influences Hepatic Fat Fraction in End-Stage Renal Disease Patients on Dialysis: A Proof of Concept Study.

Ebiomedicine
G Rostoker, C Loridon, M Griuncelli, C Rabaté, F Lepeytre, P Ureña-Torres, B Issad, N Ghali, Y Cohen
Publication Date: 2019-01

Variant appearance in text: HFE: H63D
PMID: 30502056
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Iron as a Therapeutic Target in HFE-Related Hemochromatosis: Usual and Novel Aspects.

Pharmaceuticals (Basel, Switzerland)
O Loréal, T Cavey, F Robin, M Kenawi, P Guggenbuhl, P Brissot
Publication Date: 2018-11-26

Variant appearance in text: HFE: His63Asp
PMID: 30486249
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Pediatric Anthracycline-Induced Cardiotoxicity: Mechanisms, Pharmacogenomics, and Pluripotent Stem-Cell Modeling.

Clinical Pharmacology And Therapeutics
A Tripaydonis, R Conyers, DA Elliott
Publication Date: 2019-03

Variant appearance in text: HFE: 187C>G; H63D; rs1799945
PMID: 30460992
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Hereditary Hemochromatosis and Iron Metabolism.

Ejifcc
J Carlson, S Olsson
Publication Date: 2001-07

Variant appearance in text: HFE: H63D
PMID: 30429720
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HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study.

Plos One
B Oppl, E Husar-Memmer, S Pfefferkorn, M Blank, P Zenz, E Gollob, C Wurnig, A Engel, A Stadlmayr, G Uyanik, W Brozek, K Klaushofer, J Zwerina, C Datz
Publication Date: 2018

Variant appearance in text: HFE: H63D
PMID: 30427934
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Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
SE John, D Antony, M Eaaswarkhanth, P Hebbar, AM Channanath, D Thomas, S Devarajan, J Tuomilehto, F Al-Mulla, O Alsmadi, TA Thanaraj
Publication Date: 2018-11-08

Variant appearance in text: rs1799945
PMID: 30409984
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Transferrin is responsible for mediating the effects of iron ions on the regulation of anterior pharynx-defective-1α/β and Presenilin 1 expression via PGE2 and PGD2 at the early stage of Alzheimer's Disease.

Aging
CD Lu, JK Ma, ZY Luo, QX Tai, P Wang, PP Guan
Publication Date: 2018-11-01

Variant appearance in text: HFE: H63D
PMID: 30383537
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Genetic Ancestry Markers and Difference in A1c Between African American and White in the Diabetes Prevention Program.

The Journal Of Clinical Endocrinology And Metabolism
MF Hivert, CA Christophi, KA Jablonski, SL Edelstein, SE Kahn, SH Golden, S Dagogo-Jack, KJ Mather, JA Luchsinger, AE Caballero, E Barrett-Connor, WC Knowler, JC Florez, WH Herman
Publication Date: 2019-02-01

Variant appearance in text: rs1799945
PMID: 30358859
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Identification of mutations in SLC4A1, GP1BA and HFE in a family with venous thrombosis of unknown cause by next-generation sequencing.

Experimental And Therapeutic Medicine
WA Chang, CC Sheu, KT Liu, JH Shen, MC Yen, PL Kuo
Publication Date: 2018-11

Variant appearance in text: HFE: H63D
PMID: 30344693
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Higher age at diagnosis of hemochromatosis is the strongest predictor of the occurrence of hepatocellular carcinoma in the Swiss hemochromatosis cohort: A prospective longitudinal observational study.

Medicine
A Nowak, RS Giger, PA Krayenbuehl
Publication Date: 2018-10

Variant appearance in text: HFE: H63D
PMID: 30335010
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Genetic Variations and Cisplatin Nephrotoxicity: A Systematic Review.

Frontiers In Pharmacology
Z Zazuli, S Vijverberg, E Slob, G Liu, B Carleton, J Veltman, P Baas, R Masereeuw, AH Maitland-van der Zee
Publication Date: 2018

Variant appearance in text: rs1799945
PMID: 30319427
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Updated recommendation for the benign stand-alone ACMG/AMP criterion.

Human Mutation
R Ghosh, SM Harrison, HL Rehm, SE Plon, LG Biesecker,
Publication Date: 2018-11

Variant appearance in text: HFE: 187C>G; His63Asp
PMID: 30311383
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Brain iron loading impairs DNA methylation and alters GABAergic function in mice.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Q Ye, M Trivedi, Y Zhang, M Böhlke, H Alsulimani, J Chang, T Maher, R Deth, J Kim
Publication Date: 2019-02

Variant appearance in text: HFE: H63D
PMID: 30277817
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Temozolomide resistance in glioblastoma multiforme.

Genes & Diseases
SY Lee
Publication Date: 2016-09

Variant appearance in text: HFE: H63D
PMID: 30258889
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Diagnosis and Management of Genetic Iron Overload Disorders.

Journal Of General Internal Medicine
WC Palmer, P Vishnu, W Sanchez, B Aqel, D Riegert-Johnson, LAK Seaman, AW Bowman, CE Rivera
Publication Date: 2018-12

Variant appearance in text: HFE: H63D
PMID: 30225768
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Generic chemoprevention of hepatocellular carcinoma.

Annals Of The New York Academy Of Sciences
SK Athuluri-Divakar, Y Hoshida
Publication Date: 2019-03

Variant appearance in text: HFE: H63D
PMID: 30221358
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DES-Mutation: System for Exploring Links of Mutations and Diseases.

Scientific Reports
V Kordopati, A Salhi, R Razali, A Radovanovic, F Tifratene, M Uludag, Y Li, A Bokhari, A AlSaieedi, A Bin Raies, C Van Neste, M Essack, VB Bajic
Publication Date: 2018-09-06

Variant appearance in text: rs1799945
PMID: 30190574
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Hypertension and Cerebral Microangiopathy (Cerebral Small Vessel Disease): Genetic and Epigenetic Aspects of Their Relationship.

Acta Naturae
LA Dobrynina, MR Zabitova, LA Kalashnikova, EV Gnedovskaya, MA Piradov
Publication Date: 2018

Variant appearance in text: rs1799945
PMID: 30116610
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Pin1 Modulation in Physiological Status and Neurodegeneration. Any Contribution to the Pathogenesis of Type 3 Diabetes?

International Journal Of Molecular Sciences
M Bianchi, M Manco
Publication Date: 2018-08-08

Variant appearance in text: HFE: H63D
PMID: 30096758
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Acute heart failure after Orthotopic liver transplantation: a case series from one center.

Bmc Anesthesiology
S Sharma, K Karamchandani, R Wilson, S Baskin, D Bezinover
Publication Date: 2018-07-31

Variant appearance in text: HFE: H63D
PMID: 30064379
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Educational Case: Iron Overload and Hemochromatosis.

Academic Pathology
MJ Borowitz, A Moliterno
Publication Date: 2018

Variant appearance in text: HFE: H63D
PMID: 30057941
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Cardiac MRI T2* in Liver Transplant Candidates: Application and Performance of a Novel Imaging Technique to Identify Patients at Risk for Poor Posttransplant Cardiac Outcomes.

Transplantation Direct
SM Lewin, K Kallianos, MI Nevah, S Zhao, OK Fix, GC Brooks, T De Marco, AN Qasim, KG Ordovas, N Mehta
Publication Date: 2018-07

Variant appearance in text: HFE: H63D
PMID: 30046653
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Transferrin receptor 1 in cancer: a new sight for cancer therapy.

American Journal Of Cancer Research
Y Shen, X Li, D Dong, B Zhang, Y Xue, P Shang
Publication Date: 2018

Variant appearance in text: HFE: His63Asp
PMID: 30034931
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000309234.6 c.187C>G p.His63Asp missense_variant 2/6 -
ENST00000317896.7 c.187C>G p.His63Asp missense_variant 2/5 -
ENST00000336625.8 c.187C>G p.His63Asp missense_variant 2/5 -
ENST00000349999.4 c.77-363C>G - intron_variant - 1/4
ENST00000352392.4 c.77-2168C>G - intron_variant - 1/2
ENST00000353147.5 c.77-1734C>G - intron_variant - 1/3
ENST00000357618.5 c.187C>G p.His63Asp missense_variant 2/6 -
ENST00000397022.3 c.118C>G p.His40Asp missense_variant 2/6 -
ENST00000461397.1 c.187C>G p.His63Asp missense_variant 2/6 -
ENST00000470149.1 c.187C>G p.His63Asp missense_variant 2/7 -
ENST00000483782.1 n.309C>G - non_coding_transcript_exon_variant 2/3 -
ENST00000486147.1 n.230C>G - non_coding_transcript_exon_variant 2/5 -
ENST00000488199.1 c.77-363C>G - intron_variant - 1/4
NM_000410.3 c.187C>G p.His63Asp missense_variant 2/6 -
NM_001300749.2 c.187C>G p.His63Asp missense_variant 2/6 -
NM_139003.3 c.187C>G p.His63Asp missense_variant 2/5 -
NM_139004.3 c.187C>G p.His63Asp missense_variant 2/5 -
NM_139006.3 c.187C>G p.His63Asp missense_variant 2/6 -
NM_139007.3 c.77-363C>G - intron_variant - 1/4
NM_139008.3 c.77-363C>G - intron_variant - 1/4
NM_139009.3 c.118C>G p.His40Asp missense_variant 2/6 -
NM_139010.3 c.77-1734C>G - intron_variant - 1/3
NM_139011.3 c.77-2168C>G - intron_variant - 1/2
NR_144383.1 n.84G>C - non_coding_transcript_exon_variant 1/2 -