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

[1] Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis
Karaghiannis, Valena
Maric, Darko
Garrec, Celine
Maaziz, Nada
Buffet, Alexandre
Schmitt, Loic
Antunes, Vincent
Airaud, Fabrice
Aral, Bernard
Le Roy, Amandine
Corbineau, Sebastien
Mansour-Hendili, Lamisse
Lesieur, Valentine
Rimbert, Antoine
Laporte, Fabien
Delamare, Marine
Rab, Mink
Bezieau, Stephane
Cassinat, Bruno
Galacteros, Frederic
Gimenez-Roqueplo, Anne-Paule
Burnichon, Nelly
Cario, Holger
van Wijk, Richard
Bento, Celeste
Girodon, Francois
Hoogewijis, David
Gardie, Betty
HAEMATOLOGICA, 2023, 108 (06) : 1652 - 1666
[2] Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis
Comino-Mendez, Inaki
de Cubas, Aguirre A.
Bernal, Carmen
Alvarez-Escola, Cristina
Sanchez-Malo, Carolina
Ramirez-Tortosa, Cesar L.
Pedrinaci, Susana
Rapizzi, Elena
Ercolino, Tonino
Bernini, Giampaolo
Bacca, Alessandra
Leton, Rocio
Pita, Guillermoo
Alonso, Maria R.
Leandro-Garcia, Luis J.
Gomez-Grana, Alvaro
Inglada-Perez, Lucia
Mancikova, Veronika
Rodriguez-Antona, Cristina
Mannelli, Massimo
Robledo, Mercedes
Cascon, Alberto
HUMAN MOLECULAR GENETICS, 2013, 22 (11) : 2169 - 2176
[3] Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders
Lawrence, Elijah S.
Gu, Wanjun
Bohlender, Ryan J.
Anza-Ramirez, Cecilia
Cole, Amy M.
Yu, James J.
Hu, Hao
Heinrich, Erica C.
O'Brien, Katie A.
Vasquez, Carlos A.
Cowan, Quinn T.
Bruck, Patrick T.
Mercader, Kysha
Alotaibi, Mona
Long, Tao
Hall, James E.
Moya, Esteban A.
Bauk, Marco A.
Reeves, Jennifer J.
Kong, Mitchell C.
Salem, Rany M.
Vizcardo-Galindo, Gustavo
Macarlupu, Jose-Luis
Figueroa-Mujica, Romulo
Bermudez, Daniela
Corante, Noemi
Gaio, Eduardo
Fox, Keolu P.
Salomaa, Veikko
Havulinna, Aki S.
Murray, Andrew J.
Malhotra, Atul
Powel, Frank L.
Jain, Mohit
Komor, Alexis C.
Cavalleri, Gianpiero L.
Huff, Chad D.
Villafuerte, Francisco C.
Simonson, Tatum S.
SCIENCE ADVANCES, 2024, 10 (06)
[4] Involvement of EPAS1/HIF2A in Trophoblast Lineage and Placental Development
Shukla, Vinay
Varberg, Kaela M.
Galligos, Anna
Muto, Masanaga
Pierce, Stephen
Iqbal, Khursheed
Soares, Michael J.
REPRODUCTIVE SCIENCES, 2022, 29 (SUPPL 1) : 57 - 57
[5] A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma
Lorenzo, Felipe R.
Yang, Chunzhang
Fui, Mark Ng Tang
Vankayalapati, Hariprasad
Zhuang, Zhengping
Thanh Huynh
Grossmann, Mathis
Pacak, Karel
Prchal, Josef T.
JOURNAL OF MOLECULAR MEDICINE-JMM, 2013, 91 (04): : 507 - 512
[6] A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma
Felipe R. Lorenzo
Chunzhang Yang
Mark Ng Tang Fui
Hariprasad Vankayalapati
Zhengping Zhuang
Thanh Huynh
Mathis Grossmann
Karel Pacak
Josef T. Prchal
Journal of Molecular Medicine, 2013, 91 : 507 - 512
[7] Novel EPAS1 HIF2A Mutation Associated with Paraganglioma and Polycythemia Case Report
Sanso, Gabriela
Flores, Shahida
HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 7 - 7
[8] Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: the Mayo Clinic experience
Gangat, Naseema
Oliveira, Jennifer L.
Porter, Tavanna R.
Hoyer, James D.
Al-Kali, Aref
Patnaik, Mrinal M.
Pardanani, Animesh
Tefferi, Ayalew
HAEMATOLOGICA, 2022, 107 (05) : 1201 - 1204
[9] Three Novel EPAS1/HIF2A Somatic and Germline mutations Associated with Polycythemia and Pheochromocytoma/Paraganglioma
Lorenzo, Felipe R.
Zhuang, Zhengping
Yang, Chunzhang
Fui, Mark Ng Tang
Vankayalapati, Hariprasad
Pacak, Karel
Prchal, Josef T.
BLOOD, 2012, 120 (21)
[10] NOVEL MUTATIONS IN THE ERYTHROPOIETIN RECEPTOR (EPOR), PROLYL HYDROXYLASE DOMAIN-2 (PHD2/EGLN1) AND HYPOXIA INDUCIBLE FACTOR 2α (HIF2A/EPAS1) GENES AS A CAUSE OF HEREDITARY ERYTHROCYTOSIS
Hoyer, James
Kluge, Michelle
Fredrick, Lori
Swanson, Kenneth
Viswanatha, David
Oliveira, Jennifer
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, 2014, 36 : 12 - 13

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