scholarly journals Canonical Wnt-Signaling Activity During the Athletic Heart Formation

2018 ◽  
Vol 2018 (3) ◽  
pp. 33-39
Author(s):  
L.I. BORTNICHUK ◽  
◽  
A.O. MYRONOVA ◽  
D.S. AVRAMETS ◽  
V.V. BALATSKYI ◽  
...  
2015 ◽  
Vol 49 (1) ◽  
pp. 6-11 ◽  
Author(s):  
O. L. Palchevska ◽  
V. V. Balatskii ◽  
A. O. Andrejeva ◽  
L. L. Macewicz ◽  
O. O. Piven ◽  
...  

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 80
Author(s):  
Yentl Huybrechts ◽  
Eveline Boudin ◽  
Gretl Hendrickx ◽  
Ellen Steenackers ◽  
Neveen Hamdy ◽  
...  

Sclerosteosis is a high bone mass disorder, caused by pathogenic variants in the genes encoding sclerostin or LRP4. Both proteins form a complex that strongly inhibits canonical WNT signaling activity, a pathway of major importance in bone formation. So far, all reported disease-causing variants are located in the third β-propeller domain of LRP4, which is essential for the interaction with sclerostin. Here, we report the identification of two compound heterozygous variants, a known p.Arg1170Gln and a novel p.Arg632His variant, in a patient with a sclerosteosis phenotype. Interestingly, the novel variant is located in the first β-propeller domain, which is known to be indispensable for the interaction with agrin. However, using luciferase reporter assays, we demonstrated that both the p.Arg1170Gln and the p.Arg632His variant in LRP4 reduced the inhibitory capacity of sclerostin on canonical WNT signaling activity. In conclusion, this study is the first to demonstrate that a pathogenic variant in the first β-propeller domain of LRP4 can contribute to the development of sclerosteosis, which broadens the mutational spectrum of the disorder.


2009 ◽  
Vol 40 (4) ◽  
pp. 311-316 ◽  
Author(s):  
Takashi Yamagami ◽  
Andrei Molotkov ◽  
Chengji J. Zhou

PLoS ONE ◽  
2014 ◽  
Vol 9 (12) ◽  
pp. e112388 ◽  
Author(s):  
Rute Silva Moura ◽  
Eduarda Carvalho-Correia ◽  
Paulo daMota ◽  
Jorge Correia-Pinto

2009 ◽  
Vol 331 (2) ◽  
pp. 476
Author(s):  
Sang-Wook Cha ◽  
Emmanuel Tadjuidje ◽  
James Wells ◽  
Christopher Mayhew ◽  
Janet Heasman

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