Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914

2013 ◽  
Vol 78 (5) ◽  
pp. 687-693 ◽  
Author(s):  
So Young Park ◽  
Hee-Chang Mun ◽  
Young Sil Eom ◽  
Hae Lim Baek ◽  
Tae Sik Jung ◽  
...  
Keyword(s):  
Therapeutic Approach ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Identification And Characterization ◽  
Autosomal Dominant Hypocalcemia

scholarly journals Identification and Characterization of a Novel Mutation M579Fs+75X in HERG

2011 ◽  
Vol 27 (Supplement) ◽  
pp. PJ3_045
Author(s):  
Yukiko Hata ◽  
Hisashi Mori ◽  
Ayumi Tanaka ◽  
Yosuke Fujita ◽  
Takeshi Shimomura ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Identification And Characterization

Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

2001 ◽  
Vol 27 (2) ◽  
pp. 489-495 ◽  
Author(s):  
M.A. Torralba ◽  
J.I. Pérez-Calvo ◽  
G.M. Pastores ◽  
A. Cenarro ◽  
P. Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutation ◽  
Identification And Characterization

scholarly journals Identification and Characterization of Autosomal Genes That Interact With glass in the Developing Drosophila Eye

Genetics ◽  
1996 ◽  
Vol 142 (4) ◽  
pp. 1199-1213
Author(s):  
Chaoyong Ma ◽  
Hui Liu ◽  
Ying Zhou ◽  
Kevin Moses
Keyword(s):  
Photoreceptor Cell ◽  
Autosomal Dominant ◽  
Compound Eye ◽  
Photoreceptor Cells ◽  
Genetic Screens ◽  
Morphogenetic Furrow ◽  
Multiple Alleles ◽  
Complementation Groups ◽  
Identification And Characterization

Abstract The glass gene encodes a zinc finger, DNA-binding protein that is required for photoreceptor cell development in Drosophila melanogaster. In the developing compound eye, glass function is regulated at two points: (1) the protein is expressed in all cells' nuclei posterior to the morphogenetic furrow and (2) the ability of the Glass protein to regulate downstream genes is largely limited to the developing photoreceptor cells. We conducted a series of genetic screens for autosomal dominant second-site modifiers of the weak allele glass3, to discover genes with products that may regulate glass function at either of these levels. Seventy-six dominant enhancer mutations were recovered (and no dominant suppressors). Most of these dominant mutations are in essential genes and are associated with recessive lethality. We have assigned these mutations to 23 complementation groups that include multiple alleles of Star and hedgehog as well as single alleles of Delta, roughened eye, glass and hairy. Mutations in 18 of the complementation groups are embryonic lethals, and of these, 13 show abnormal adult retinal phenotypes in homozygous clones, usually with altered numbers of photoreceptor cells in some of the ommatidia.

Identification and Characterization of a Novel Mutation in the Carbonic Anhydrase IV Gene that Causes Retinitis Pigmentosa

2007 ◽  
Vol 48 (8) ◽  
pp. 3459 ◽  
Author(s):  
Bernardo V. Alvarez ◽  
Eranga N. Vithana ◽  
Zhenglin Yang ◽  
Adrian H. Koh ◽  
Kit Yeung ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Retinitis Pigmentosa ◽  
Novel Mutation ◽  
Carbonic Anhydrase Iv ◽  
Identification And Characterization

Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia

2012 ◽  
Vol 223 (2) ◽  
pp. 394-400 ◽  
Author(s):  
Marianne Abifadel ◽  
Maryse Guerin ◽  
Suzanne Benjannet ◽  
Jean-Pierre Rabès ◽  
Wilfried Le Goff ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Gain Of Function ◽  
Pcsk9 Gene ◽  
Identification And Characterization
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