Publications:

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

Jhep Reports : Innovation In Hepatology

Sun, Zewen Z; Pan, Xingchen X; Tian, Aowen A; Surakka, Ida I; Wang, Tao T; Jiao, Xu X; He, Shanshan S; Song, Jinfang J; Tian, Xin X; Tong, Dan D; Wen, Jianping J; Zhang, Yonggang Y; Liu, Wanqing W; Chen, Peng P

Publication Date: 2023-07

Variant appearance in text: HFE: C282Y; rs1800562

PubMed Link: 37235137

Variant Present in the following documents:

• Main text
• mmc4.pdf
• mmc1.pdf
• main.pdf

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The Evolution of Iron-Related Comorbidities and Hospitalization in Patients with Hemochromatosis: An Analysis of the Nationwide Inpatient Sample.

Blood Science (Baltimore, Md.)

Abou Yassine, Ahmad A; MacDougall, Kira K; Sasso, Roula R; Shammaa, Youssef Y; Alsheikh, Mira M; Abureesh, Mohammad M; Dahabra, Loai L; Alshami, Mohammad M; Mulrooney, Stephen S

Publication Date: 2023-04

Variant appearance in text: HFE: C282Y

PubMed Link: 37228771

Variant Present in the following documents:

• bs9-5-131.pdf

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Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.

Genetics And Molecular Biology

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

Publication Date: 2023

Variant appearance in text: HFE: C282Y

PubMed Link: 37216649

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-46-2-e20220230.pdf

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A deep catalog of protein-coding variation in 985,830 individuals.

Biorxiv : The Preprint Server For Biology

Sun, Kathie Y KY; Bai, Xiaodong X; Chen, Siying S; Bao, Suying S; Kapoor, Manav M; Backman, Joshua J; Joseph, Tyler T; Maxwell, Evan E; Mitra, George G; Gorovits, Alexander A; Mansfield, Adam A; Boutkov, Boris B; Gokhale, Sujit S; Habegger, Lukas L; Marcketta, Anthony A; Locke, Adam A; Kessler, Michael D MD; Sharma, Deepika D; Staples, Jeffrey J; Bovijn, Jonas J; Gelfman, Sahar S; Gioia, Alessandro Di AD; Rajagopal, Veera V; Lopez, Alexander A; Varela, Jennifer Rico JR; Alegre, Jesus J; Berumen, Jaime J; Tapia-Conyer, Roberto R; Kuri-Morales, Pablo P; Torres, Jason J; Emberson, Jonathan J; Collins, Rory R; , ; , ; Cantor, Michael M; Thornton, Timothy T; Kang, Hyun Min HM; Overton, John J; Shuldiner, Alan R AR; Cremona, M Laura ML; Nafde, Mona M; Baras, Aris A; Abecasis, Goncalo G; Marchini, Jonathan J; Reid, Jeffrey G JG; Salerno, William W; Balasubramanian, Suganthi S

Publication Date: 2023-05-10

Variant appearance in text: HFE: Cys282Tyr

PubMed Link: 37214792

Variant Present in the following documents:

• Main text
• nihpp-2023.05.09.539329v1.pdf

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Effect of standard phlebotomy on myocardial and hepatic iron levels in newly diagnosed cardiac asymptomatic hereditary hemochromatosis subjects with C282Y homozygosity.

Ejhaem

Shizukuda, Yukitaka Y; Patricia Bandettini, W W; Rosing, Douglas R DR

Publication Date: 2023-05

Variant appearance in text: HFE: C282Y

PubMed Link: 37206277

Variant Present in the following documents:

• Main text
• JHA2-4-544.pdf

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

Sage Open Medical Case Reports

Strubchevska, Kateryna K; Kozyk, Marko M; Marijanovich, Nicole N

Publication Date: 2023

Variant appearance in text: HFE: C282Y; rs1800562

PubMed Link: 37205158

Variant Present in the following documents:

• Main text
• 10.1177_2050313X231172329.pdf

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Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report.

Journal Of Cancer & Allied Specialties

Jehangir, Waqas W; Karabachev, Alexander D AD; Umyarova, Elvira R ER

Publication Date: 2020

Variant appearance in text: HFE: C282Y

PubMed Link: 37197141

Variant Present in the following documents:

• JCAS-6-281.pdf

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Lipoprotein(a) Genotype Influences the Clinical Diagnosis of Familial Hypercholesterolemia.

Journal Of The American Heart Association

Olmastroni, Elena E; Gazzotti, Marta M; Averna, Maurizio M; Arca, Marcello M; Tarugi, Patrizia P; Calandra, Sebastiano S; Bertolini, Stefano S; Catapano, Alberico L AL; Casula, Manuela M; ,

Publication Date: 2023-05-15

Variant appearance in text: rs1800562

PubMed Link: 37183858

Variant Present in the following documents:

• Main text
• JAH3-12-e029223.pdf

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The ancestral haplotype markers HLA -A3 and B7 do not influence the likelihood of advanced hepatic fibrosis or cirrhosis in HFE hemochromatosis.

Scientific Reports

Olynyk, John K JK; Grainger, Richard R; Currie, Helen H; Ramm, Louise E LE; Ramm, Grant A GA

Publication Date: 2023-05-13

Variant appearance in text: HFE: C282Y

PubMed Link: 37179448

Variant Present in the following documents:

• Main text
• 41598_2023_Article_35028.pdf

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

Frontiers In Cardiovascular Medicine

Zhabyeyev, Pavel P; Sadasivan, Chandu C; Shah, Saumya S; Wang, Faqi F; Oudit, Gavin Y GY

Publication Date: 2023

Variant appearance in text: HFE: C282Y

PubMed Link: 37153462

Variant Present in the following documents:

• Main text

View BVdb publication page

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

Bmc Gastroenterology

Barton, James C JC; Barton, J Clayborn JC; Acton, Ronald T RT

Publication Date: 2023-04-28

Variant appearance in text: HFE: C282Y; rs1800562

PubMed Link: 37118679

Variant Present in the following documents:

• Main text
• 12876_2023_Article_2763.pdf

View BVdb publication page

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Predicting and grading liver injury in the absence of computed tomographic imaging.

Journal Of Family Medicine And Primary Care

Newton, Mario Victor MV; Subramanyam, S G SG

Publication Date: 2023-02

Variant appearance in text: HFE: C282Y

PubMed Link: 37091021

Variant Present in the following documents:

• Main text
• JFMPC-12-326.pdf

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

Cureus

Eris, Tansu T; Yanik, Ahmet Mert AM; Demirtas, Derya D; Yilmaz, Asu Fergun AF; Toptas, Tayfur T

Publication Date: 2023-03

Variant appearance in text: HFE: C282Y

PubMed Link: 37069863

Variant Present in the following documents:

• Main text
• cureus-0015-00000036253.pdf

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

International Journal Of Molecular Sciences

Squitti, Rosanna R; Reale, Giuseppe G; Tondolo, Vincenzo V; Crescenti, Daniela D; Bellini, Sonia S; Moci, Marco M; Caliandro, Pietro P; Padua, Luca L; Rongioletti, Mauro M

Publication Date: 2023-04-06

Variant appearance in text: HFE: C282Y

PubMed Link: 37047843

Variant Present in the following documents:

• ijms-24-06867.pdf

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Case 9: A 62-Year-Old Woman With Jaundice and General Weakness.

Journal Of Korean Medical Science

Cho, Hee Sun HS; Han, Ji Won JW; Kim, Ji Hoon JH; Nam, Heechul H; Sung, Pil Soo PS; Bae, Si Hyun SH

Publication Date: 2023-04-10

Variant appearance in text: HFE: C282Y

PubMed Link: 37038642

Variant Present in the following documents:

• jkms-38-e105.pdf

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Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion

El-Gharbawi, Nesrine N; Shaheen, Iman I; Hamdy, Mona M; Elgawhary, Somaya S; Samir, Mohamed M; Hanna, Baher Matta BM; Ali, Eman Yousief EY; Youssef, Eman Ahmed EA

Publication Date: 2023-04

Variant appearance in text: HFE: C282Y

PubMed Link: 37006987

Variant Present in the following documents:

• 12288_2022_Article_1580.pdf

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Interpreting Iron Homeostasis in Congenital and Acquired Disorders.

Pharmaceuticals (Basel, Switzerland)

Scaramellini, Natalia N; Fischer, Dania D; Agarvas, Anand R AR; Motta, Irene I; Muckenthaler, Martina U MU; Mertens, Christina C

Publication Date: 2023-02-21

Variant appearance in text: HFE: C282Y

PubMed Link: 36986429

Variant Present in the following documents:

• Main text
• pharmaceuticals-16-00329.pdf

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Intraretinal Microvascular Abnormalities and Venous Beading Have Different Genetic Profiles in Caucasian Patients with Non-Proliferative Diabetic Retinopathy.

Vision (Basel, Switzerland)

Pearce, Elizabeth E; Sivaprasad, Sobha S; Broadgate, Suzanne S; Kiire, Christine C; Downes, Susan M SM; Halford, Stephanie S; Chong, Victor V

Publication Date: 2023-03-02

Variant appearance in text: rs1800562

PubMed Link: 36977298

Variant Present in the following documents:

• vision-07-00018.pdf

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A bi-directional Mendelian randomization study of sarcopenia-related traits and type 2 diabetes mellitus.

Frontiers In Endocrinology

Chen, Simin S; Yan, Shikang S; Aiheti, Nuerbiyamu N; Kuribanjiang, Kaidiriyan K; Yao, Xuemei X; Wang, Qian Q; Zhou, Tao T; Yang, Lei L

Publication Date: 2023

Variant appearance in text: rs1800562

PubMed Link: 36967750

Variant Present in the following documents:

• Main text
• fendo-14-1109800.pdf

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: rs1800562

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Variations in how medical researchers report patient demographics: a retrospective analysis of published articles.

Eclinicalmedicine

Lynn-Green, Erika E EE; Ofoje, Avery A AA; Lynn-Green, Robert H RH; Jones, David S DS

Publication Date: 2023-04

Variant appearance in text: HFE: C282Y

PubMed Link: 36949866

Variant Present in the following documents:

• mmc1.pdf

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

Clinica Chimica Acta; International Journal Of Clinical Chemistry

Atkins, Janice L JL; Lucas, Mitchell M; Pilling, Luke C LC; Melzer, David D

Publication Date: 2023-03-13

Variant appearance in text: HFE: C282Y; rs1800562

PubMed Link: 36921681

Variant Present in the following documents:

• Main text
• main.pdf

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Characteristics of circulating small noncoding RNAs in plasma and serum during human aging.

Aging Medicine (Milton (N.S.W))

Xiao, Ping P; Shi, Zhangyue Z; Liu, Chenang C; Hagen, Darren E DE

Publication Date: 2023-03

Variant appearance in text: HFE: C282Y

PubMed Link: 36911092

Variant Present in the following documents:

• AGM2-6-35-s002.xlsx, sheet 3

View BVdb publication page

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Iron metabolism in colorectal cancer.

Frontiers In Oncology

Huang, Luji L; Li, Wangji W; Lu, Yan Y; Ju, Qinuo Q; Ouyang, Manzhao M

Publication Date: 2023

Variant appearance in text: HFE: C282Y

PubMed Link: 36910614

Variant Present in the following documents:

• Main text
• fonc-13-1098501.pdf

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

Cell Death & Disease

Miao, Runyu R; Fang, Xinyi X; Zhang, Yanjiao Y; Wei, Jiahua J; Zhang, Yuxin Y; Tian, Jiaxing J

Publication Date: 2023-03-08

Variant appearance in text: HFE: C282Y

PubMed Link: 36882414

Variant Present in the following documents:

• 41419_2023_Article_5708.pdf

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

Annals Of Hematology

Iglesias-Vázquez, Lucía L; Gimeno, Mercedes M; Coronel, Pilar P; Caspersen, Ida Henriette IH; Basora, Josep J; Arija, Victoria V

Publication Date: 2023-02-15

Variant appearance in text: HFE: C282Y

PubMed Link: 36790457

Variant Present in the following documents:

• Main text
• 277_2023_Article_5123.pdf

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Iron as a therapeutic target in chronic liver disease.

World Journal Of Gastroenterology

Kouroumalis, Elias E; Tsomidis, Ioannis I; Voumvouraki, Argyro A

Publication Date: 2023-01-28

Variant appearance in text: HFE: C282Y

PubMed Link: 36742167

Variant Present in the following documents:

• WJG-29-616.pdf

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Analysis of Hand Joint Space Morphology in Women and Men with Hereditary Hemochromatosis.

Calcified Tissue International

Heilmeier, Ursula U; Burghardt, Andrew J AJ; Tse, Justin J JJ; Kapoor, Puneet P; Stok, Kathryn S KS; Manske, Sarah S; Voll, Reinhard E RE; Schett, Georg G; Finzel, Stephanie S

Publication Date: 2023-02-04

Variant appearance in text: HFE: C282Y

PubMed Link: 36738308

Variant Present in the following documents:

• Main text
• 223_2022_Article_1050.pdf

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A Mystery of Joint Pain: Is It Rheumatoid Arthritis (RA) or Hereditary Hemochromatosis (HH)?

Cureus

Chit Su, Hlaing Myat HM; Putchakayala, Kiran K

Publication Date: 2022-12

Variant appearance in text: HFE: C282Y

PubMed Link: 36721599

Variant Present in the following documents:

• Main text
• cureus-0014-00000033037.pdf

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Iron Man: Non-HFE Hemochromatosis Without Significant Fibrosis.

Acg Case Reports Journal

Chaudhry, Hunza H; Sohal, Aalam A; Petrosyan, Arpine A; Laput, Gieric G; Roytman, Marina M; Prajapati, Devang D

Publication Date: 2023-01

Variant appearance in text: HFE: C282Y

PubMed Link: 36713280

Variant Present in the following documents:

• Main text
• ac9-10-e00982.pdf

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TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron Homeostasis.

Advances In Therapy

Ganz, Tomas T; Nemeth, Elizabeta E; Rivella, Stefano S; Goldberg, Paul P; Dibble, Andrew R AR; McCaleb, Michael L ML; Guo, Shuling S; Monia, Brett P BP; Barrett, Terrance D TD

Publication Date: 2023-01-23

Variant appearance in text: HFE: C282Y

PubMed Link: 36690839

Variant Present in the following documents:

• Main text
• 12325_2022_Article_2421.pdf

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Contribution of rare and common coding variants to haematological malignancies in the UK biobank.

Leukemia Research Reports

Zöller, Bengt B; Manderstedt, Eric E; Lind-Halldén, Christina C; Halldén, Christer C

Publication Date: 2023

Variant appearance in text: HFE: Cys282Tyr

PubMed Link: 36683729

Variant Present in the following documents:

• main.pdf

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