Abstract 273: Molecular markers promoting metastases to the brain via EMT: Genes, proteins, and functional analysis.

Author(s):  
Dhruve S. Jeevan ◽  
Sudeepta Sridhara ◽  
Alex Braun ◽  
Raj Murali ◽  
Meena Jhanwar-Uniyal
2017 ◽  
Vol 96 (1) ◽  
pp. e21404 ◽  
Author(s):  
Tomohide Uno ◽  
Masayuki Furutani ◽  
Katsuhiko Sakamoto ◽  
Yuichi Uno ◽  
Kengo Kanamaru ◽  
...  

2010 ◽  
Author(s):  
D. Ryan Ormond ◽  
Elise McKenna ◽  
Michael Karsy ◽  
Alex Braun ◽  
Raj Murali ◽  
...  

2021 ◽  
Author(s):  
Niklas Schwarz ◽  
Simone Seiffert ◽  
Manuela Pendziwiat ◽  
Annika Rademacher ◽  
Tobias Bruenger ◽  
...  

Background KCNC2 encodes a member of the shaw-related voltage-gated potassium channel family (KV3.2), which are important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain. Methods Individuals with KCNC2 variants detected by exome sequencing were selected for clinical, further genetic and functional analysis. The cases were referred through clinical and research collaborations in our study. Four de novo variants were examined electrophysiologically in Xenopus laevis oocytes. Results We identified novel KCNC2 variants in 27 patients with various forms of epilepsy. Functional analysis demonstrated gain-of-function in severe and loss-of-function in milder phenotypes as the underlying pathomechanisms with specific response to valproic acid. Conclusion These findings implicate KCNC2 as a novel causative gene for epilepsy emphasizing the critical role of KV3.2 in the regulation of brain excitability with an interesting genotype-phenotype correlation and a potential concept for precision medicine.


2019 ◽  
Author(s):  
John V. Wainwright ◽  
Jared B. Cooper ◽  
Anisha Chandy ◽  
Chirag D. Gandhi ◽  
Meic H. Schmidt ◽  
...  

Gene ◽  
2021 ◽  
Vol 768 ◽  
pp. 145305
Author(s):  
Xiaolong Tian ◽  
Jun Ma ◽  
Yijing Wu ◽  
Pan Zhang ◽  
Qinggang Li ◽  
...  

Development ◽  
1997 ◽  
Vol 124 (15) ◽  
pp. 2945-2960 ◽  
Author(s):  
T.F. Schilling ◽  
C.B. Kimmel

The head skeleton and muscles of the zebrafish develop in a stereotyped pattern in the embryo, including seven pharyngeal arches and a basicranium underlying the brain and sense organs. To investigate how individual cartilages and muscles are specified and organized within each head segment, we have examined their early differentiation using Alcian labeling of cartilage and expression of several molecular markers of muscle cells. Zebrafish larvae begin feeding by four days after fertilization, but cartilage and muscle precursors develop in the pharyngeal arches up to 2 days earlier. These chondroblasts and myoblasts lie close together within each segment and differentiate in synchrony, perhaps reflecting the interdependent nature of their patterning. Initially, cells within a segment condense and gradually become subdivided into individual dorsal and ventral structures of the differentiated arch. Cartilages or muscles in one segment show similar patterns of condensation and differentiation as their homologues in another, but vary in size and shape in the most anterior (mandibular and hyoid) and posterior (tooth-bearing) arches, possibly as a consequence of changes in the timing of their development. Our results reveal a segmental scaffold of early cartilage and muscle precursors and suggest that interactions between them coordinate their patterning in the embryo. These data provide a descriptive basis for genetic analyses of craniofacial patterning.


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