A Gain-of-Function Mutation in EPO Gene Causes Familial Erythrocytosis

被引:0
|
作者
Zmajkovic, Jakub
Lundberg, Pontus
Nienhold, Ronny
Sundan, Anders
Waage, Anders
Skoda, Radek C.
机构
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
1653
引用
收藏
页数:2
相关论文
共 50 条
  • [1] A Gain-of-Function Mutation in EPO in Familial Erythrocytosis
    Zmajkovic, Jakub
    Lundberg, Pontus
    Nienhold, Ronny
    Torgersen, Maria L.
    Sundan, Anders
    Waage, Anders
    Skoda, Radek C.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2018, 378 (10): : 924 - 930
  • [2] A gain-of-function mutation in EPO in familial erythrocytosis
    Zmajkovic, Jakub
    Lundberg, Pontus
    Nienhold, Ronny
    Torgersen, Maria Lyngaas
    Sundan, Anders
    Waage, Anders
    Skoda, Radek C.
    [J]. SWISS MEDICAL WEEKLY, 2018, 148 : 25S - 26S
  • [3] A gain-of-function mutation in the HIF2A gene in familial erythrocytosis
    Percy, Melanie J.
    Furlow, Paul W.
    Lucas, Guy S.
    Li, Xiping
    Lappin, Terence R. J.
    McMullin, Mary Frances
    Lee, Frank S.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2008, 358 (02): : 162 - 168
  • [4] A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome
    Kremeyer, Barbara
    Lopera, Francisco
    Cox, James J.
    Momin, Aliakmal
    Rugiero, Francois
    Marsh, Steve
    Woods, C. Geoffrey
    Jones, Nicholas G.
    Paterson, Kathryn J.
    Fricker, Florence R.
    Villegas, Andres
    Acosta, Natalia
    Pineda-Trujillo, Nicolas G.
    Diego Ramirez, Juan
    Zea, Julian
    Burley, Mari-Wyn
    Bedoya, Gabriel
    Bennett, David L. H.
    Wood, John N.
    Ruiz-Linares, Andres
    [J]. NEURON, 2010, 66 (05) : 671 - 680
  • [5] Gain-of-Function Mutation of KIT Ligand on Melanin Synthesis Causes Familial Progressive Hyperpigmentation
    Wang, Zhi-Qiang
    Si, Lizhen
    Tang, Quan
    Lin, Debao
    Fu, Zhangjie
    Zhang, Jing
    Cui, Bin
    Zhu, Yufei
    Kong, Xianghua
    Deng, Min
    Xia, Yu
    Xu, Heng
    Le, Weidong
    Hu, Landian
    Kong, Xiangyin
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (05) : 672 - 677
  • [6] A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits
    Guzman, Yomayra F.
    Ramsey, Keri
    Stolz, Jacob R.
    Craig, David W.
    Huentelman, Mathew J.
    Narayanan, Vinodh
    Swanson, Geoffrey T.
    [J]. NEUROLOGY-GENETICS, 2017, 3 (01)
  • [7] Familial chilblain lupus due to a gain-of-function mutation in STING
    Konig, Nadja
    Fiehn, Christoph
    Wolf, Christine
    Schuster, Max
    Costa, Emanuel Cura
    Tungler, Victoria
    Alvarez, Hugo Ariel
    Chara, Osvaldo
    Engel, Kerstin
    Goldbach-Mansky, Raphaela
    Gunther, Claudia
    Lee-Kirsch, Min Ae
    [J]. ANNALS OF THE RHEUMATIC DISEASES, 2017, 76 (02) : 468 - 472
  • [8] Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy
    Goos, Helka
    Fogarty, Christopher L.
    Sahu, Biswajyoti
    Plagnol, Vincent
    Rajamaki, Kristiina
    Nurmi, Katariina
    Liu, Xiaonan
    Einarsdottir, Elisabet
    Jouppila, Annukka
    Pettersson, Tom
    Vihinen, Helena
    Krjutskov, Kaarel
    Saavalainen, Paivi
    Jarvinen, Asko
    Muurinen, Mari
    Greco, Dario
    Scala, Giovanni
    Curtis, James
    Nordstrom, Dan
    Flaumenhaft, Robert
    Vaarala, Outi
    Kovanen, Panu E.
    Keskitalo, Salla
    Ranki, Annamari
    Kere, Juha
    Lehto, Markku
    Notarangelo, Luigi D.
    Nejentsev, Sergey
    Eklund, Kari K.
    Varjosalo, Markku
    Taipale, Jussi
    Seppanen, Mikko R. J.
    [J]. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2019, 144 (05) : 1364 - 1376
  • [9] A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
    Fabio L. Fernandes-Rosa
    Georgios Daniil
    Ian J. Orozco
    Corinna Göppner
    Rami El Zein
    Vandana Jain
    Sheerazed Boulkroun
    Xavier Jeunemaitre
    Laurence Amar
    Hervé Lefebvre
    Thomas Schwarzmayr
    Tim M. Strom
    Thomas J. Jentsch
    Maria-Christina Zennaro
    [J]. Nature Genetics, 2018, 50 : 355 - 361
  • [10] A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism
    Fernandes-Rosa, Fabio L.
    Daniil, Georgios
    Orozco, Ian J.
    Goeppner, Corinna
    El Zein, Rami
    Jain, Vandana
    Boulkroun, Sheerazed
    Jeunemaitre, Xavier
    Amar, Laurence
    Lefebvre, Herve
    Schwarzmayr, Thomas
    Strom, Tim M.
    Jentsch, Thomas J.
    Zennaro, Maria-Christina
    [J]. NATURE GENETICS, 2018, 50 (03) : 355 - +