In silico and Functional Studies for Classification of EPAS1/HIF2A Genetic Variants Identified in Patients with Erythrocytosis

被引：1

作者：

Karaghiannis, Valena ^{[1
,2
]}

Maric, Darko ^{[3
,4
]}

Garrec, Celine ^{[5
]}

Maaziz, Nada ^{[6
]}

Buffet, Alexandre ^{[7
]}

Antunes, Vincent

le Roy, Amandine ^{[8
]}

Airaud, Fabrice ^{[9
]}

Aral, Bernard ^{[10
]}

Schmitt, Loic ^{[11
]}

Corbineau, Sebastien ^{[8
]}

Mansour-Hendili, Lamisse ^{[12
]}

Lesieur, Valentine ^{[8
]}

Rimbert, Antoine ^{[9
]}

Laporte, Fabien ^{[9
]}

Delamare, Marine ^{[9
]}

Bezieau, Stephane ^{[5
]}

Cassinat, Bruno ^{[13
]}

Galacteros, Frederic ^{[14
]}

Gimenez-Roqueplo, Anne-Paule ^{[15
]}

Burnichon, Nelly ^{[16
]}

Cario, Holger ^{[17
]}

van Wijk, Richard ^{[18
]}

Bento, Celeste ^{[19
]}

Blouet, Anaise ^{[20
]}

Bouteloup, Juliette ^{[21
]}

Perrard, Francoise Boyer

Bruce, Aisha Aiko ^{[23
]}

Cayssials, Emilie ^{[24
]}

Casadevall, Nicole ^{[22
,25
]}

Cherel, Brieuc ^{[26
]}

Couec, Marielaure ^{[9
]}

Drevon, Louis ^{[12
]}

Dumesnil, Cecile ^{[27
]}

De La Chapelle, Thierry Lamy ^{[28
]}

Gambart, Marion ^{[29
]}

Garcon, Loic ^{[30
]}

Granel, Brigitte ^{[31
]}

Hirsch, Pierre ^{[32
]}

Lahary, Agnes ^{[33
]}

Mejri, Amira ^{[34
]}

Meunier, Sandrine ^{[35
]}

Nicolini, Franck E. ^{[36
]}

Raffoux, Emmanuel ^{[37
]}

Ranta, Dana ^{[38
]}

Schleinitz, Nicolas ^{[39
]}

Valentin, Jean Baptiste ^{[40
]}

Wemeau, Mathieu ^{[41
]}

Girodon, Francois ^{[42
]}

Hoogewijs, David ^{[43
]}

机构：

[1] Univ Paris Sci & Lettres, EPHE, Ecole Prat Hautes Etud, Paris, France

[2] Univ Nantes, CNRS, INSERM, Inst Thorax, F-44000 Nantes, France

[3] Univ Fribourg, Dept Endocrinol Metab & Cardiovasc Syst, Sect Med, CH-1700 Fribourg, Switzerland

[4] Natl Ctr Competence Res Kidney CH, Fribourg, Switzerland

[5] Ctr Hosp Univ Nantes, Nantes, France

[6] CHU Dijon, Serv Hematol Biol, Pole Biol, Dijon, France

[7] Paris Ctr Rech Cardiovasc, UMR970, INSERM, Paris, France

[8] 2 Univ Nantes, CNRS, INSERM, Inst Thorax, F-44000 Nantes, France

[9] CHU Nantes, Nantes, France

[10] Chu Dijon Bourgogne, Dijon, France

[11] Ch Rennes, Rennes, France

[12] AP HP, Paris, France

[13] Inst Rech St Louis, INSERM UMR 1131, Paris, France

[14] CHU Henri Mondor, Unite Malad Genet Globule Rouge, Creteil, France

[15] Assistance Publ Hop Paris, Paris, France

[16] INSERM U970, Paris, France

[17] Univ Med Ctr Ulm, Dept Pediat & Adolescent Med, Ulm, Germany

[18] Univ Utrecht, Univ Med Ctr Utrecht, Cent Diagnost Lab Res, Utrecht, Netherlands

[19] Hosp Pediat Coimbra, Coimbra, Portugal

[20] Ctr Hosp, Serv Oncol Hematol, Cholet, Cholet, France

[21] Chalon Ctr Hosp, Hematol Dept, Chalon Sur Saone, Saone & Loire, France

[22] Ch Angers, Angers, France

[23] Univ Alberta, Edmonton, AB, Canada

[24] Univ Poitiers Hosp, Poitiers, France

[25] Hop St Antoine, AP HP, Lab Hematol Biol, Paris, France

[26] CHU Rennes, Rennes, France

[27] Charles Nicolle Rouen Univ Hosp, Pediat Oncol & Hematol Unit, Rouen, France

[28] Univ Hosp Rennes, Clin Hematol, Rennes, France

[29] CHU Toulouse, Toulouse, France

[30] CHU Amiens, Lab Hematol, Amiens, France

[31] Ch Marseille, Marseille, France

[32] Univ Paris 06, Paris, France

[33] Ch Rouens, Rouens, France

[34] GHRMSA Ch Mulhouse, Serv Hematol Clin, Mulhouse, France

[35] CHU Lyon, Lyon, France

[36] Ctr Hosp Lyon Sud, Lyon 03, France

[37] Univ Paris, St Louis Hosp, Dept Hematol, Paris, France

[38] Ctr Hosp Univ, Nancy, France

[39] CHU Conception, Serv Med Interne, AP HM, Marseille, France

[40] CHU Tours, Chambray Les Tours, France

[41] CHRU Lille, Paris, France

[42] CHU Dijon, Lab Hematol, Dijon, France

[43] Univ Zurich, Zurich, Switzerland

[44] Univ Sorbonne Paris Cite, INSERM U1163, Paris, France

[45] Univ Sorbonne Paris Cite, Imagine Inst, CNRS 8254, Paris, France

[46] Lab Excellence GR Ex, Paris, France

[47] Necker Enfants Malad Hosp, Paris, France

[48] CEREMAST, Imagine Inst, Paris, France

来源：

BLOOD | 2022年 / 140卷

关键词：

D O I：

10.1182/blood-2022-163123

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：8157 / 8158

页数：2

共 23 条

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