Variant ID: 6-26093141-G-A

NM_000410.3(HFE):c.845G>A;(p.Cys282Tyr)

This variant was identified in 1073 publications




Publications:


Severe chronic bowel obstruction associated with brown bowel syndrome.

Sage Open Medical Case Reports
Y Chen Wongworawat, R Propst, A Raza, B Rohweller, L Swentek, CW Zuppan, C Cobb
Publication Date: 2020

Variant appearance in text: HFE: C282Y
PMID: 32754337
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Auranofin mitigates systemic iron overload and induces ferroptosis via distinct mechanisms.

Signal Transduction And Targeted Therapy
L Yang, H Wang, X Yang, Q Wu, P An, X Jin, W Liu, X Huang, Y Li, S Yan, S Shen, T Liang, J Min, F Wang
Publication Date: 2020-07-31

Variant appearance in text: HFE: Cys282Tyr
PMID: 32732975
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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: C282Y
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: C282Y
PMID: 32708019
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Plasma Lipidome, PNPLA3 polymorphism and hepatic steatosis in hereditary hemochromatosis.

Bmc Gastroenterology
J Seeßle, H Gan-Schreier, M Kirchner, W Stremmel, W Chamulitrat, U Merle
Publication Date: 2020-07-17

Variant appearance in text: HFE: C282Y
PMID: 32680469
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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: C282Y
PMID: 32670519
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Sexually dimorphic impact of the iron-regulating gene, HFE, on survival in glioblastoma.

Neuro-Oncology Advances
DS Nesterova, V Midya, BE Zacharia, EA Proctor, SY Lee, LC Stetson, JD Lathia, JB Rubin, KA Waite, ME Berens, JS Barnholtz-Sloan, JR Connor
Publication Date: 2020

Variant appearance in text: HFE: C282Y
PMID: 32642673
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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: C282Y
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: C282Y; rs1800562
PMID: 32641076
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Porphyria cutanea tarda unmasked by supratherapeutic estrogen during gender-affirming hormone therapy.

Jaad Case Reports
SR Jackson Cullison, JJ Jedrych, AJ James
Publication Date: 2020-07

Variant appearance in text: HFE: C282Y
PMID: 32637521
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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: HFE: C282Y; rs1800562
PMID: 32609760
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Genetic colocalization atlas points to common regulatory sites and genes for hematopoietic traits and hematopoietic contributions to disease phenotypes.

Bmc Medical Genomics
CS Thom, BF Voight
Publication Date: 2020-06-29

Variant appearance in text: HFE: Cys282Tyr; rs1800562
PMID: 32600345
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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: C282Y
PMID: 32547795
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COVID-19: A Personalized Cardiometabolic Approach for Reducing Complications and Costs. The Role of Aging beyond Topics.

The Journal Of Nutrition, Health & Aging
J Saban-Ruiz, D Ly-Pen
Publication Date: 2020

Variant appearance in text: HFE: C282Y
PMID: 32510105
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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: C282Y
PMID: 32494128
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Regulation of Iron Homeostasis and Related Diseases.

Mediators Of Inflammation
Y Li, X Huang, J Wang, R Huang, D Wan
Publication Date: 2020

Variant appearance in text: HFE: C282Y
PMID: 32454791
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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: 845G>A; C282Y; rs1800562
PMID: 32429125
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Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents.

Bmc Pediatrics
JM Savatt, JK Wagner, S Joffe, AK Rahm, MS Williams, AR Bradbury, FD Davis, J Hergenrather, Y Hu, MA Kelly, HL Kirchner, MN Meyer, J Mozersky, SM O'Dell, J Pervola, A Seeley, AC Sturm, AH Buchanan
Publication Date: 2020-05-15

Variant appearance in text: HFE: C282Y
PMID: 32414353
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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: C282Y
PMID: 32414341
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COVID-19: A Personalized Cardiometabolic Approach for Reducing Complications and Costs. The Role of Aging Beyond Topics.

The Journal Of Nutrition, Health & Aging
J Saban-Ruiz, D Ly-Pen
Publication Date: 2020-05-12

Variant appearance in text: HFE: C282Y
PMID: 32405235
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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: C282Y
PMID: 32399341
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Association of early-onset Alzheimer's disease with germline-generated high affinity self-antigen load.

Translational Psychiatry
P Huang, YH Yang, YH Chang, SL Chang, MC Chou, CL Lai, CK Liu, HY Chen
Publication Date: 2020-05-12

Variant appearance in text: rs1800562
PMID: 32398703
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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: C282Y
PMID: 32349426
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Failure to follow up on a medically actionable finding from direct to consumer genetic testing: A case report.

Molecular Genetics & Genomic Medicine
R Garmany, CJ Lee, RR Sharp, IJ Kullo
Publication Date: 2020-04-23

Variant appearance in text: HFE: 845G>A; C282Y
PMID: 32329251
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Analysis of Natural Killer cell functions in patients with hereditary hemochromatosis.

Excli Journal
V Bönnemann, M Claus, B Butzeck, D Collette, P Bröde, K Golka, C Watzl
Publication Date: 2020

Variant appearance in text: HFE: C282Y
PMID: 32327961
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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: C282Y; rs1800562
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: 845G>A; C282Y
PMID: 32316587
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Sporadic Porphyria Cutanea Tarda as the Initial Manifestation of Hereditary Hemochromatosis.

Acg Case Reports Journal
MV Edwards, JM Ray, BR Bacon
Publication Date: 2019-11

Variant appearance in text: HFE: C282Y
PMID: 32309465
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A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

Plos Genetics
CA Emdin, ME Haas, AV Khera, K Aragam, M Chaffin, D Klarin, G Hindy, L Jiang, WQ Wei, Q Feng, J Karjalainen, A Havulinna, T Kiiskinen, A Bick, D Ardissino, JG Wilson, H Schunkert, R McPherson, H Watkins, R Elosua, MJ Bown, NJ Samani, U Baber, J Erdmann, N Gupta, J Danesh, D Saleheen, KM Chang, M Vujkovic, B Voight, S Damrauer, J Lynch, D Kaplan, M Serper, P Tsao, , J Mercader, C Hanis, M Daly, J Denny, S Gabriel, S Kathiresan
Publication Date: 2020-04-13

Variant appearance in text: HFE: C282Y; rs1800562
PMID: 32282858
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Bull's eye maculopathy associated with hereditary hemochromatosis.

American Journal Of Ophthalmology Case Reports
KN Bellsmith, JL Dunaief, P Yang, ME Pennesi, E Davis, H Hofkamp, BJ Lujan
Publication Date: 2020-06

Variant appearance in text: HFE: C282Y
PMID: 32258826
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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: Cys282Tyr
PMID: 32258529
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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: C282Y
PMID: 32257719
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Genome-wide and Mendelian randomisation studies of liver MRI yield insights into the pathogenesis of steatohepatitis.

Journal Of Hepatology
CA Parisinos, HR Wilman, EL Thomas, M Kelly, RC Nicholls, J McGonigle, S Neubauer, AD Hingorani, RS Patel, H Hemingway, JD Bell, R Banerjee, H Yaghootkar
Publication Date: 2020-04-02

Variant appearance in text: rs1800562
PMID: 32247823
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Hereditary hemochromatosis disrupts uric acid homeostasis and causes hyperuricemia via altered expression/activity of xanthine oxidase and ABCG2.

The Biochemical Journal
B Ristic, S Sivaprakasam, M Narayanan, V Ganapathy
Publication Date: 2020-04-02

Variant appearance in text: HFE: C282Y
PMID: 32239172
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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.

International Journal Of Molecular Sciences
M Vila Cuenca, G Marchi, A Barqué, C Esteban-Jurado, A Marchetto, A Giorgetti, V Chelban, H Houlden, NW Wood, C Piubelli, M Dorigatti Borges, D Martins de Albuquerque, K Yotsumoto Fertrin, E Jové-Buxeda, J Sanchez-Delgado, N Baena-Díez, B Burnyte, A Utkus, F Busti, G Kaubrys, E Suku, K Kowalczyk, B Karaszewski, JB Porter, S Pollard, P Eleftheriou, P Bignell, D Girelli, M Sanchez
Publication Date: 2020-03-30

Variant appearance in text: HFE: C282Y
PMID: 32235485
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Idiopathic brain calcification in a patient with hereditary hemochromatosis.

Bmc Neurology
S Scarlini, F Cavallieri, M Fiorini, E Menozzi, F Ferrara, F Cavalleri, C Reale, B Garavaglia, A Pietrangelo, F Valzania, E Corradini
Publication Date: 2020-03-30

Variant appearance in text: HFE: Cys282Tyr
PMID: 32228506
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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: C282Y; rs1800562
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: C282Y
PMID: 32153640
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Difficult diagnosis of cardiac haemochromatosis: a case report.

European Heart Journal. Case Reports
V Sudmantaitė, J Čelutkienė, S Glaveckaite, R Katkus
Publication Date: 2020-02

Variant appearance in text: HFE: C282Y
PMID: 32128489
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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: 845G>A; C282Y
PMID: 32125936
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Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
V Moldovan, C Banescu, M Dobreanu
Publication Date: 2020-02

Variant appearance in text: rs1800562
PMID: 32120369
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Precise and Programmable Detection of Mutations Using Ultraspecific Riboregulators.

Cell
F Hong, D Ma, K Wu, LA Mina, RC Luiten, Y Liu, H Yan, AA Green
Publication Date: 2020-02-25

Variant appearance in text: HFE: C282Y; rs1800562
PMID: 32109416
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Gnpat does not play an essential role in systemic iron homeostasis in murine model.

Journal Of Cellular And Molecular Medicine
P An, J Wang, H Wang, L Jiang, J Wang, J Min, F Wang
Publication Date: 2020-02-28

Variant appearance in text: HFE: C282Y
PMID: 32108988
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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: 845G>A; Cys282Tyr
PMID: 32099816
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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: C282Y
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: C282Y; rs1800562
PMID: 32092884
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LDL-C plays a causal role on T2DM: a Mendelian randomization analysis.

Aging
W Pan, W Sun, S Yang, H Zhuang, H Jiang, H Ju, D Wang, Y Han
Publication Date: 2020-02-10

Variant appearance in text: rs1800562
PMID: 32040442
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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: C282Y
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: C282Y; rs1800562
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: 845G>A; Cys282Tyr
PMID: 31980526
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SLN124, a GalNAc-siRNA Conjugate Targeting TMPRSS6, Efficiently Prevents Iron Overload in Hereditary Haemochromatosis Type 1.

Hemasphere
S Altamura, U Schaeper, S Dames, K Löffler, M Eisermann, C Frauendorf, K Müdder, J Neves, MU Muckenthaler
Publication Date: 2019-12

Variant appearance in text: HFE: C282Y
PMID: 31976476
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Iron metabolism and iron disorders revisited in the hepcidin era.

Haematologica
C Camaschella, A Nai, L Silvestri
Publication Date: 2020-01-16

Variant appearance in text: HFE: C282Y
PMID: 31949017
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Harveian Oration 2019: Prediction and prevention in the genomic era.

Clinical Medicine (London, England)
J Burn
Publication Date: 2020-01

Variant appearance in text: HFE: C282Y
PMID: 31941726
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Impact of glycemic traits, type 2 diabetes and metformin use on breast and prostate cancer risk: a Mendelian randomization study.

Bmj Open Diabetes Research & Care
SL Au Yeung, CM Schooling
Publication Date: 2019

Variant appearance in text: rs1800562
PMID: 31908803
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Utility of hepatic or total body iron burden in the assessment of advanced hepatic fibrosis in HFE hemochromatosis.

Scientific Reports
J Chin, LW Powell, LE Ramm, OT Ayonrinde, GA Ramm, JK Olynyk
Publication Date: 2019-12-27

Variant appearance in text: HFE: C282Y
PMID: 31882912
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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: C282Y
PMID: 31856248
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Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.

Frontiers In Genetics
R da Silva Francisco Junior, C Dos Santos Ferreira, JC Santos E Silva, D Terra Machado, Y Côrtes Martins, V Ramos, G Simões Carnivali, AB Garcia, E Medina-Acosta
Publication Date: 2019

Variant appearance in text: rs1800562
PMID: 31850058
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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: 845G>A; Cys282Tyr; rs1800562
PMID: 31824661
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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut
Z Montazeri, X Li, C Nyiraneza, X Ma, M Timofeeva, V Svinti, X Meng, Y He, Y Bo, S Morgan, S Castellví-Bel, C Ruiz-Ponte, C Fernández-Rozadilla, Á Carracedo, A Castells, T Bishop, D Buchanan, MA Jenkins, TO Keku, A Lindblom, FJB van Duijnhoven, A Wu, SM Farrington, MG Dunlop, H Campbell, E Theodoratou, W Zheng, J Little
Publication Date: 2019-12-09

Variant appearance in text: rs1800562
PMID: 31818908
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Iron as Therapeutic Target in Human Diseases.

Pharmaceuticals (Basel, Switzerland)
R Gozzelino, M Poli, P Arosio
Publication Date: 2019-12-05

Variant appearance in text: HFE: C282Y
PMID: 31817314
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Genetic variants that associate with liver cirrhosis have pleiotropic effects on human traits.

Liver International : Official Journal Of The International Association For The Study Of The Liver
VL Chen, Y Chen, X Du, SK Handelman, EK Speliotes
Publication Date: 2019-12-09

Variant appearance in text: HFE: C282Y; rs1800562
PMID: 31815349
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Clinicopathological diagnosis and treatment of juvenile hemochromatosis.

Chinese Medical Journal
CX Li, L Zhang, P Wang, L Sun
Publication Date: 2019-12-05

Variant appearance in text: HFE: C282Y
PMID: 31809314
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Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
DC Crawford, J Lin, JN Cooke Bailey, T Kinzy, JR Sedor, JF O'Toole, WS Bush
Publication Date: 2020

Variant appearance in text: HFE: Cys282Tyr; rs1800562
PMID: 31797629
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Hepatocellular carcinoma in alcoholic and non-alcoholic fatty liver disease-one of a kind or two different enemies?

Translational Gastroenterology And Hepatology
C Pocha, C Xie
Publication Date: 2019

Variant appearance in text: HFE: C282Y
PMID: 31728429
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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: C282Y
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: C282Y
PMID: 31698356
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A case report of hereditary hemochromatosis caused by mutation of SLC40A1 gene.

Medicine
X Yin, Y Zhang, H Gao, QL Jin, XY Wen
Publication Date: 2019-11

Variant appearance in text: HFE: C282Y
PMID: 31689754
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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: C282Y
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: C282Y
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: C282Y
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: Cys282Tyr
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: C282Y
PMID: 31483113
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Impact of RNA testing on cardiac variant interpretation and patient management.

Heartrhythm Case Reports
L Jankelson, H Zimmermann, S Fowler, L Borneman, B Conner, S Wu, R Karam, L Chinitz, M Cerrone
Publication Date: 2019-08

Variant appearance in text: HFE: C282Y
PMID: 31453089
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Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

American Journal Of Human Genetics
,
Publication Date: 2019-09-05

Variant appearance in text: rs1800562
PMID: 31447099
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HFE Related Hemochromatosis: Uncovering the Inextricable Link between Iron Homeostasis and the Immunological System.

Pharmaceuticals (Basel, Switzerland)
G Porto, E Cruz, MJ Teles, M de Sousa
Publication Date: 2019-08-22

Variant appearance in text: HFE: C282Y
PMID: 31443397
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Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.

American Journal Of Human Genetics
AS Gordon, EA Rosenthal, DS Carrell, LM Amendola, MO Dorschner, A Scrol, IB Stanaway, S DeVange, JD Ralston, H Zouk, HL Rehm, E Larson, DR Crosslin, KA Leppig, GP Jarvik
Publication Date: 2019-09-05

Variant appearance in text: HFE: 845G>A; Cys282Tyr
PMID: 31422818
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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: rs1800562
PMID: 31416722
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Metabolic Disorders and Anesthesia.

Current Anesthesiology Reports
C Yeoh, H Teng, J Jackson, L Hingula, T Irie, A Legler, C Levine, I Chu, C Chai, L Tollinche
Publication Date: 2019-09

Variant appearance in text: HFE: C282Y
PMID: 31406490
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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: C282Y; rs1800562
PMID: 31388624
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Heme biosynthesis and the porphyrias.

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

Variant appearance in text: HFE: C282Y
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: rs1800562
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: C282Y
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: 845G>A; Cys282Tyr
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: C282Y; rs1800562
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: rs1800562
PMID: 31220083
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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: C282Y
PMID: 31205627
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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: C282Y
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: C282Y
PMID: 31143309
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Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations.

Current Opinion In Systems Biology
SD Wierbowski, R Fragoza, S Liang, H Yu
Publication Date: 2018-10

Variant appearance in text: HFE: C282Y; rs1800562
PMID: 31086831
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Genetic Association of Finger Photoplethysmography-Derived Arterial Stiffness Index With Blood Pressure and Coronary Artery Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
SM Zekavat, K Aragam, C Emdin, AV Khera, D Klarin, H Zhao, P Natarajan
Publication Date: 2019-06

Variant appearance in text: HFE: Cys282Tyr
PMID: 31070453
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Iron-Induced Liver Injury: A Critical Reappraisal.

International Journal Of Molecular Sciences
SA Bloomer, KE Brown
Publication Date: 2019-04-30

Variant appearance in text: HFE: C282Y
PMID: 31052166
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Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Y Wang, JG Wang
Publication Date: 2019-04

Variant appearance in text: rs1800562
PMID: 31049317
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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: C282Y
PMID: 31035287
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Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.

European Journal Of Human Genetics : Ejhg
C Thauvin-Robinet, J Thevenon, S Nambot, J Delanne, P Kuentz, AL Bruel, A Chassagne, E Cretin, A Pelissier, C Peyron, E Gautier, D Lehalle, N Jean-Marçais, P Callier, AL Mosca-Boidron, A Vitobello, A Sorlin, F Tran Mau-Them, C Philippe, P Vabres, L Demougeot, C Poé, T Jouan, M Chevarin, M Lefebvre, M Bardou, E Tisserant, M Luu, C Binquet, JF Deleuze, C Verstuyft, Y Duffourd, L Faivre
Publication Date: 2019-08

Variant appearance in text: HFE: 845G>A; Cys282Tyr; rs1800562
PMID: 31019283
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Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2019-04-22

Variant appearance in text: rs1800562
PMID: 31011892
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Identifying Disease-Gene Associations With Graph-Regularized Manifold Learning.

Frontiers In Genetics
P Luo, Q Xiao, PJ Wei, B Liao, FX Wu
Publication Date: 2019

Variant appearance in text: HFE: C282Y
PMID: 31001321
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000309234.6 c.845G>A p.Cys282Tyr missense_variant 4/6 -
ENST00000317896.7 c.569G>A p.Cys190Tyr missense_variant 3/5 -
ENST00000336625.8 c.527G>A p.Cys176Tyr missense_variant 3/5 -
ENST00000349999.4 c.581G>A p.Cys194Tyr missense_variant 3/5 -
ENST00000352392.4 c.77-206G>A - intron_variant - 1/2
ENST00000353147.5 c.305G>A p.Cys102Tyr missense_variant 2/4 -
ENST00000357618.5 c.845G>A p.Cys282Tyr missense_variant 4/6 -
ENST00000397022.3 c.776G>A p.Cys259Tyr missense_variant 4/6 -
ENST00000461397.1 c.803G>A p.Cys268Tyr missense_variant 4/6 -
ENST00000470149.1 c.836G>A p.Cys279Tyr missense_variant 5/7 -
ENST00000483782.1 n.1176G>A - non_coding_transcript_exon_variant 3/3 -
ENST00000486147.1 n.688G>A - non_coding_transcript_exon_variant 3/5 -
ENST00000488199.1 c.539G>A p.Cys180Tyr missense_variant 3/5 -
NM_000410.3 c.845G>A p.Cys282Tyr missense_variant 4/6 -
NM_001300749.2 c.845G>A p.Cys282Tyr missense_variant 4/6 -
NM_139003.3 c.527G>A p.Cys176Tyr missense_variant 3/5 -
NM_139004.3 c.569G>A p.Cys190Tyr missense_variant 3/5 -
NM_139006.3 c.803G>A p.Cys268Tyr missense_variant 4/6 -
NM_139007.3 c.581G>A p.Cys194Tyr missense_variant 3/5 -
NM_139008.3 c.539G>A p.Cys180Tyr missense_variant 3/5 -
NM_139009.3 c.776G>A p.Cys259Tyr missense_variant 4/6 -
NM_139010.3 c.305G>A p.Cys102Tyr missense_variant 2/4 -
NM_139011.3 c.77-206G>A - intron_variant - 1/2