Publications:

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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

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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

View BVdb publication page

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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	-