Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

10.1038/947 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 264-267 ◽  
Author(s):  
N. Torben Bech-Hansen ◽  
Margaret J. Naylor ◽  
Tracy A. Maybaum ◽  
William G. Pearce ◽  
Ben Koop ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Loss Of Function ◽  
Subunit Gene ◽  
Α1 Subunit

scholarly journals Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)

Channels ◽  
2018 ◽  
Vol 12 (1) ◽  
pp. 17-33 ◽  
Author(s):  
D. M. Waldner ◽  
N. C. Giraldo Sierra ◽  
S. Bonfield ◽  
L. Nguyen ◽  
I. S. Dimopoulos ◽  
...  
Keyword(s):  
Night Blindness ◽  
Cone Dystrophy ◽  
Congenital Stationary Night Blindness ◽  
Loss Of Function ◽  
Function Model

Genetic and Developmental Characterization of Dmca1D, a Calcium Channel α1 Subunit Gene in Drosophila melanogaster

Genetics ◽  
1998 ◽  
Vol 148 (3) ◽  
pp. 1159-1169
Author(s):  
Daniel F Eberl ◽  
Dejian Ren ◽  
Guoping Feng ◽  
Lori J Lorenz ◽  
David Van Vactor ◽  
...  
Keyword(s):  
Drosophila Melanogaster ◽  
Calcium Channel ◽  
Functional Significance ◽  
Transmembrane Domain ◽  
Vital Role ◽  
Subunit Gene ◽  
Channel Diversity ◽  
Domain I ◽  
Α1 Subunit

Abstract To begin unraveling the functional significance of calcium channel diversity, we identified mutations in Dmca1D, a Drosophila calcium channel α1 subunit cDNA that we recently cloned. These mutations constitute the l(2)35Fa lethal locus, which we rename Dmca1D. A severe allele, Dmca1DX10, truncates the channel after the IV-S4 transmembrane domain. These mutants die as late embryos because they lack vigorous hatching movements. In the weaker allele, Dmca1DAR66, a cysteine in transmembrane domain I-S1 is changed to tyrosine. Dmca1DAR66 embryos hatch but pharate adults have difficulty eclosing. Those that do eclose have difficulty in fluid-filling of the wings. These studies show that this member of the calcium channel α1 subunit gene family plays a nonredundant, vital role in larvae and adults.

Comparative genomics of the human and Fugu voltage-gated calcium channel α1-subunit gene family reveals greater diversity in Fugu

Gene ◽  
2006 ◽  
Vol 366 (1) ◽  
pp. 117-127 ◽  
Author(s):  
Esther Wong ◽  
Wei-Ping Yu ◽  
Wai Ho Yap ◽  
Byrappa Venkatesh ◽  
Tuck Wah Soong
Keyword(s):  
Comparative Genomics ◽  
Calcium Channel ◽  
Gene Family ◽  
Subunit Gene ◽  
Voltage Gated ◽  
Voltage Gated Calcium Channel ◽  
Α1 Subunit

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel α1 subunit gene (Cav 1·1) are not associated with thyrotoxic hypokalaemic periodic paralysis

2002 ◽  
Vol 56 (3) ◽  
pp. 367-375 ◽  
Author(s):  
Magnus R. Dias da Silva ◽  
Janete M. Cerutti ◽  
Célia H. Tengan ◽  
Gilberto K. Furuzawa ◽  
Teresa C. A. Vieira ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Periodic Paralysis ◽  
Subunit Gene ◽  
Α1 Subunit ◽  
Hypokalaemic Periodic Paralysis

scholarly journals A brain L-type calcium channel α1 subunit gene (CCHL1A2) maps to mouse chromosome 14 and human chromosome 3

Genomics ◽  
1991 ◽  
Vol 11 (4) ◽  
pp. 914-919 ◽  
Author(s):  
Hemin Chin ◽  
Christine A. Kozak ◽  
Hyung-Lae Kim ◽  
Beverly Mock ◽  
O.Wesley McBride
Keyword(s):  
Human Chromosome ◽  
Calcium Channel ◽  
Mouse Chromosome ◽  
Chromosome 3 ◽  
Subunit Gene ◽  
Chromosome 14 ◽  
Human Chromosome 3 ◽  
Α1 Subunit

scholarly journals Biophysical characterization of CaV1.4 L-type calcium channel mutants causing congenital stationary night blindness type 2 in humans

2012 ◽  
Vol 13 (Suppl 1) ◽  
pp. A69
Author(s):  
Klaus W Schicker ◽  
Verena Burtscher ◽  
Dagmar Knoflach ◽  
Anamika Singh ◽  
Thomas Stockner ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Biophysical Characterization

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

10.1038/940 ◽  
1998 ◽  
Vol 19 (3) ◽  
pp. 260-263 ◽  
Author(s):  
Tim M. Strom ◽  
Gerald Nyakatura ◽  
Eckart Apfelstedt-Sylla ◽  
Heide Hellebrand ◽  
Birgit Lorenz ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Night Blindness ◽  
Congenital Stationary Night Blindness ◽  
Channel Gene
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