A novel form of congenital rickets due to a recurrent gain of function mutation in CYP3A4 

2017 ◽  
Author(s):  
Christine P. Rodda
Keyword(s):  
Gain Of Function ◽  
Congenital Rickets

A novel form of congenital rickets due to a recurrent gain of function mutation in CYP3A4

2017 ◽  
Author(s):  
Christine P Rodda ◽  
Michael A Levine ◽  
Jeffrey D Roizen ◽  
Muhammad K Javaid ◽  
Peter R Ebeling ◽  
...  
Keyword(s):  
Gain Of Function ◽  
Congenital Rickets

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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