Molecular Characterization of the Mouse mtprd Gene, a Homologue of Human TPRD: Unique Gene Expression Suggesting Its Critical Role in the Pathophysiology of Down Syndrome

1998 ◽  
Vol 123 (6) ◽  
pp. 1055-1063 ◽  
Author(s):  
F. Tsukahara ◽  
I. Urakawa ◽  
M. Hattori ◽  
M. Hirai ◽  
K.-i. Ohba ◽  
...  
2012 ◽  
Vol 224 (03) ◽  
Author(s):  
A Streltsov ◽  
S Emmrich ◽  
F Engeland ◽  
JH Klusmann

2011 ◽  
Vol 5 (5) ◽  
pp. e1167 ◽  
Author(s):  
Rubens L. do Monte-Neto ◽  
Adriano C. Coelho ◽  
Frédéric Raymond ◽  
Danielle Légaré ◽  
Jacques Corbeil ◽  
...  

Hydrobiologia ◽  
2005 ◽  
Vol 546 (1) ◽  
pp. 117-123 ◽  
Author(s):  
Gen Kaneko ◽  
Tatsuki Yoshinaga ◽  
Yoshiko Yanagawa ◽  
Shigeharu Kinoshita ◽  
Katsumi Tsukamoto ◽  
...  

2011 ◽  
Vol 22 (11-12) ◽  
pp. 685-691 ◽  
Author(s):  
Laura G. Reinholdt ◽  
Yueming Ding ◽  
Griffith T. Gilbert ◽  
Anne Czechanski ◽  
Jeffrey P. Solzak ◽  
...  

Blood ◽  
2015 ◽  
Vol 125 (22) ◽  
pp. 3388-3392 ◽  
Author(s):  
Olli Silvennoinen ◽  
Stevan R. Hubbard

Abstract The critical role of Janus kinase-2 (JAK2) in regulation of myelopoiesis was established 2 decades ago, but identification of mutations in the pseudokinase domain of JAK2 in myeloproliferative neoplasms (MPNs) and in other hematologic malignancies highlighted the role of JAK2 in human disease. These findings have revolutionized the diagnostics of MPNs and led to development of novel JAK2 therapeutics. However, the molecular mechanisms by which mutations in the pseudokinase domain lead to hyperactivation of JAK2 and clinical disease have been unclear. Here, we describe recent advances in the molecular characterization of the JAK2 pseudokinase domain and how pathogenic mutations lead to constitutive activation of JAK2.


2006 ◽  
Vol 119 (1) ◽  
pp. 91-98 ◽  
Author(s):  
Angel Chao ◽  
Tzu-Hao Wang ◽  
Yun-Shien Lee ◽  
Swei Hsueh ◽  
An-Shine Chao ◽  
...  

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