Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: HFE: 848A>C; Gln283Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene

Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M

Publication Date: 2022-06

Variant appearance in text: rs111033563

PubMed Link: 36479490

Variant Present in the following documents:

• Main text
• jpmh-2022-02-e102.pdf

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Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue.

International Journal Of Molecular Sciences

Le Tertre, Marlène M; Elbahnsi, Ahmad A; Ka, Chandran C; Callebaut, Isabelle I; Le Gac, Gérald G

Publication Date: 2021-06-15

Variant appearance in text: HFE: Q283P

PubMed Link: 34203920

Variant Present in the following documents:

• ijms-22-06412.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: HFE: 848A>C; Gln283Pro; rs111033563

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.

American Journal Of Cancer Research

Schneeweiss-Gleixner, Mathias M; Greiner, Georg G; Herndlhofer, Susanne S; Schellnegger, Julia J; Krauth, Maria-Theresa MT; Gleixner, Karoline V KV; Wimazal, Friedrich F; Steinhauser, Corinna C; Kundi, Michael M; Thalhammer, Renate R; Schwarzinger, Ilse I; Hoermann, Gregor G; Esterbauer, Harald H; Födinger, Manuela M; Valent, Peter P; Sperr, Wolfgang R WR

Publication Date: 2021

Variant appearance in text: HFE: Q283P

PubMed Link: 33791166

Variant Present in the following documents:

• Main text

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Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis

Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M

Publication Date: 2020-11-09

Variant appearance in text: rs111033563

PubMed Link: 33170161

Variant Present in the following documents:

• Main text
• ACTA-91-11.pdf

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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: HFE1: Q283P

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

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Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Blood Transfusion = Trasfusione Del Sangue

Ferbo, Ludovica L; Manzini, Paola M PM; Badar, Sadaf S; Campostrini, Natascia N; Ferrarini, Alberto A; Delledonne, Massimo M; Francisci, Tiziana T; Tassi, Valter V; Valfrè, Adriano A; Dall'omo, Anna M AM; D'antico, Sergio S; Girelli, Domenico D; Roetto, Antonella A; De Gobbi, Marco M

Publication Date: 2016-11

Variant appearance in text: HFE: Q283P

PubMed Link: 27177411

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HFE: Q283P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal).

Plos One

Branco, Claudia C CC; Gomes, Cidália T CT; De Fez, Laura L; Bulhões, Sara S; Brilhante, Maria José MJ; Pereirinha, Tânia T; Cabral, Rita R; Rego, Ana Catarina AC; Fraga, Cristina C; Miguel, António G AG; Brasil, Gracinda G; Macedo, Paula P; Mota-Vieira, Luisa L

Publication Date: 2015

Variant appearance in text: HFE: Q283P

PubMed Link: 26501199

Variant Present in the following documents:

• pone.0140228.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HFE: Q283P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Molecular basis of HFE-hemochromatosis.

Frontiers In Pharmacology

Vujić, Maja M

Publication Date: 2014

Variant appearance in text: HFE: Q283P

PubMed Link: 24653703

Variant Present in the following documents:

• Main text
• fphar-05-00042.pdf

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Lymphocyte subsets in alcoholic liver disease.

World Journal Of Hepatology

Matos, Luís Costa LC; Batista, Paulo P; Monteiro, Nuno N; Ribeiro, João J; Cipriano, Maria A MA; Henriques, Pedro P; Girão, Fernando F; Carvalho, Armando A

Publication Date: 2013-02-27

Variant appearance in text: HFE: Q283P

PubMed Link: 23646229

Variant Present in the following documents:

• Main text

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Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zamani, Farhad F; Bagheri, Zohreh Z; Bayat, Maryam M; Fereshtehnejad, Seyed-Mohammad SM; Basi, Ali A; Najmabadi, Hossein H; Ajdarkosh, Hossein H

Publication Date: 2012-10

Variant appearance in text: HFE: Q283P

PubMed Link: 23018356

Variant Present in the following documents:

• Main text
• medscimonit-18-10-cr622.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: HFE: Gln283Pro

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: HFE: Gln283Pro

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Haematologica

Aguilar-Martinez, Patricia P; Grandchamp, Bernard B; Cunat, Séverine S; Cadet, Estelle E; Blanc, François F; Nourrit, Marlène M; Lassoued, Kaiss K; Schved, Jean-François JF; Rochette, Jacques J

Publication Date: 2011-04

Variant appearance in text: HFE: Q283P

PubMed Link: 21228038

Variant Present in the following documents:

• Main text

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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology

Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP

Publication Date: 2010-10-15

Variant appearance in text: HFE: Gln283Pro

PubMed Link: 20876667

Variant Present in the following documents:

• Main text

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Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Chandrasekharan, Subhashini S; Pitlick, Emily E; Heaney, Christopher C; Cook-Deegan, Robert R

Publication Date: 2010-04

Variant appearance in text: HFE: Q283P

PubMed Link: 20393306

Variant Present in the following documents:

• Main text

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Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil)

Bittencourt, Paulo Lisboa PL; Marin, Maria Lúcia Carnevale ML; Couto, Cláudia Alves CA; Cançado, Eduardo Luiz Rachid EL; Carrilho, Flair José FJ; Goldberg, Anna Carla AC

Publication Date: 2009

Variant appearance in text: HFE: Q283P

PubMed Link: 19759876

Variant Present in the following documents:

• Main text
• cln64_9p837.pdf

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Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Haematologica

Andreani, Marco M; Radio, Francesca Clementina FC; Testi, Manuela M; De Bernardo, Carmelilia C; Troiano, Maria M; Majore, Silvia S; Bertucci, Pierfrancesco P; Polchi, Paola P; Rosati, Renata R; Grammatico, Paola P

Publication Date: 2009-09

Variant appearance in text: HFE: Q283P

PubMed Link: 19734422

Variant Present in the following documents:

• Main text

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Hyperferritinemia is a risk factor for steatosis in chronic liver disease.

World Journal Of Gastroenterology

Licata, Anna A; Nebbia, Maria Elena ME; Cabibbo, Giuseppe G; Iacono, Giovanna Lo GL; Barbaria, Francesco F; Brucato, Virna V; Alessi, Nicola N; Porrovecchio, Salvatore S; Di Marco, Vito V; Craxì, Antonio A; Cammà, Calogero C

Publication Date: 2009-05-07

Variant appearance in text: HFE: Q283P

PubMed Link: 19418586

Variant Present in the following documents:

• Main text

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Protein interactions in human genetic diseases.

Genome Biology

Schuster-Böckler, Benjamin B; Bateman, Alex A

Publication Date: 2008-01-16

Variant appearance in text: HFE: Q283P

PubMed Link: 18199329

Variant Present in the following documents:

• gb-2008-9-1-r9-S2.xls, sheet 1

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Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.

Gut

Sartori, Massimo M; Andorno, Silvano S; Pagliarulo, Michela M; Rigamonti, Cristina C; Bozzola, Cristina C; Pergolini, Patrizia P; Rolla, Roberta R; Suno, Anna A; Boldorini, Renzo R; Bellomo, Giorgio G; Albano, Emanuele E

Publication Date: 2007-05

Variant appearance in text: HFE: Q283P

PubMed Link: 17135308

Variant Present in the following documents:

• Main text

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