Evidence That a Pathogenic Allele in the L-Type Calcium Channel Gene Underlies a Novel X-Linked Primary Immunodeficient Channelopathy

2022 ◽  
Author(s):  
Franz Fenninger ◽  
Shawna R. Stanwood ◽  
Chieh-Ju Lu ◽  
Cheryl G. Pfeifer ◽  
Sarah E. Henrickson ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Channel Gene

scholarly journals Otolith function in cerebellar ataxia due to mutations in the calcium channel gene CACNA1A

Brain ◽  
2001 ◽  
Vol 124 (12) ◽  
pp. 2407-2416 ◽  
Author(s):  
G. Wiest
Keyword(s):  
Calcium Channel ◽  
Cerebellar Ataxia ◽  
Channel Gene ◽  
Otolith Function

Reemergence of the Fetal Pattern of L-Type Calcium Channel Gene Expression in Noninfarcted Myocardium during Left Ventricular Remodeling

1995 ◽  
Vol 216 (3) ◽  
pp. 892-897 ◽  
Author(s):  
M. Gidhjain ◽  
B.Y. Huang ◽  
P. Jain ◽  
V. Battula ◽  
N. Elsherif
Keyword(s):  
Gene Expression ◽  
Calcium Channel ◽  
Ventricular Remodeling ◽  
Left Ventricular Remodeling ◽  
Left Ventricular ◽  
Channel Gene

scholarly journals LEF1/ -Catenin Complex Regulates Transcription of the Cav3.1 Calcium Channel Gene (Cacna1g) in Thalamic Neurons of the Adult Brain

2010 ◽  
Vol 30 (14) ◽  
pp. 4957-4969 ◽  
Author(s):  
M. B. Wisniewska ◽  
K. Misztal ◽  
W. Michowski ◽  
M. Szczot ◽  
E. Purta ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Adult Brain ◽  
Thalamic Neurons ◽  
Channel Gene

Regulation of α1G T-type calcium channel gene (CACNA1G) expression during neuronal differentiation

2003 ◽  
Vol 17 (9) ◽  
pp. 1802-1810 ◽  
Author(s):  
Gabriel E. Bertolesi ◽  
Christine A. B. Jollimore ◽  
Chanjuan Shi ◽  
Lindsy Elbaum ◽  
Eileen M. Denovan-Wright ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Neuronal Differentiation ◽  
Channel Gene

scholarly journals Revelations from a bicistronic calcium channel gene

Cell Cycle ◽  
2014 ◽  
Vol 13 (6) ◽  
pp. 875-876 ◽  
Author(s):  
Xiaofei Du ◽  
Bert L Semler ◽  
Christopher M. Gomez
Keyword(s):  
Calcium Channel ◽  
Channel Gene

scholarly journals Identification of a Novel Quantitative Trait Nucleotype Related to Iron Status in a Calcium Channel Gene

2013 ◽  
Vol 34 (2) ◽  
pp. 121-129 ◽  
Author(s):  
Carlos Baeza-Richer ◽  
Ruth Blanco-Rojo ◽  
Ana M. López-Parra ◽  
Anna Brichs ◽  
Stefania Bertoncini ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Calcium Channel ◽  
Decision Trees ◽  
Bayesian Model Averaging ◽  
Iron Status ◽  
Model Averaging ◽  
Channel Gene ◽  
A Genome ◽  
Iron Deficient ◽  
Family Based

Several iron-related parameters have been reported to show significant heritability, and thus, seemed to be genetically regulated. A genome wide family-based study revealed two regions that showed a linkage signal with transferrin receptor levels. The aim of the study was to identify genetic markers associated with iron status biomarkers. Ten SNPs selected from the literature were tested, and parameters related to iron metabolism were analysed, in a group (n=284) of Spanish women. Data were analyzed using Bayesian Model Averaging (BMA) test and decision trees. The rs1375515, located in an intronic region of the calcium channel geneCACNA2D3, showed strong associations with levels of mean corpuscular volume according to BMA test, and with levels of haemoglobin and ferritin according to decision trees. The allele G was associated to low levels of these parameters which suggests higher iron deficiency anaemia risk. This SNP along with the C282Y mutation explained significant differences in the distribution of individuals in three iron-related clinical phenotypes (normal, iron deficient and iron deficiency anaemic). In conclusion, the rs1375515, or other genetic polymorphisms in linkage, may play important roles in iron status, probably by affecting the function of a calcium channel. These findings may be useful for further investigation in the etiology of iron diseases.

Mutations in the Cacnl1a4 calcium channel gene are associated with seizures, cerebellar degeneration, and ataxia in tottering and leaner mutant mice

1997 ◽  
Vol 8 (2) ◽  
pp. 113-120 ◽  
Author(s):  
Johannah Doyle ◽  
Xiaojia Ren ◽  
Greg Lennon ◽  
and Lisa Stubbs
Keyword(s):  
Calcium Channel ◽  
Cerebellar Degeneration ◽  
Mutant Mice ◽  
Channel Gene
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