scholarly journals Novel Gain-of-Function Variant in CACNA1C Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy

2020 ◽  
Vol 13 (6) ◽  
Author(s):  
Ken Kelu Bisabu ◽  
Juan Zhao ◽  
Alla-Eddine Mokrane ◽  
Émilie Segura ◽  
Mireille Marsolais ◽  
...  
Keyword(s):  
Timothy Syndrome ◽  
Gain Of Function ◽  
Accessory Pathways ◽  
Noncompaction Cardiomyopathy

Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome

2015 ◽  
Vol 80 ◽  
pp. 186-195 ◽  
Author(s):  
Konstantin Wemhöner ◽  
Corinna Friedrich ◽  
Birgit Stallmeyer ◽  
Alison J. Coffey ◽  
Andrew Grace ◽  
...  
Keyword(s):  
Calcium Channel ◽  
Timothy Syndrome ◽  
Long Qt ◽  
Gain Of Function

scholarly journals A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

2018 ◽  
Vol 4 (7) ◽  
pp. 273-277 ◽  
Author(s):  
Junichi Ozawa ◽  
Seiko Ohno ◽  
Hideki Saito ◽  
Akihiko Saitoh ◽  
Hiroshi Matsuura ◽  
...  
Keyword(s):  
Timothy Syndrome ◽  
Gain Of Function

STAT3-gain of function mutation as a cause of severe bronchiectasis and multi-organ autoimmunity; A case report

Pneumologie ◽  
2016 ◽  
Vol 70 (10) ◽  
Author(s):  
T Khoury ◽  
R Kuint ◽  
V Molho-Pessach ◽  
Y Ramot ◽  
A Abu Rmeileh ◽  
...  
Keyword(s):  
Case Report ◽  
Gain Of Function

The calcilytic NPS2143 rectifies the gain-of-function associated with G-protein [alpha] 11 mutations causing autosomal dominant hypocalcaemia type 2

2014 ◽  
Author(s):  
Valerie Babinsky ◽  
Fadil Hannan ◽  
M Andrew Nesbit ◽  
Sarah Howles ◽  
Jianxin Hu ◽  
...  
Keyword(s):  
G Protein ◽  
Autosomal Dominant ◽  
Gain Of Function

Follicular thyroid carcinoma due to a heterozygous gain of function mutation in thyrotropin receptor (TSHR)

2017 ◽  
Author(s):  
James Blackburn ◽  
Dinesh Giri ◽  
Senthil Seniappan ◽  
Mohammed Didi ◽  
Barbara Ciolka ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Follicular Thyroid Carcinoma ◽  
Thyrotropin Receptor ◽  
Gain Of Function
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