scholarly journals A novel gain-of-function mutation of the integrin α2 VWFA domain

2002 ◽  
Vol 269 (4) ◽  
pp. 1136-1144 ◽  
Author(s):  
Alexis Aquilina ◽  
Michelle Korda ◽  
Jeffrey M. Bergelson ◽  
Martin J. Humphries ◽  
Richard W. Farndale ◽  
...  
Keyword(s):  
Gain Of Function ◽  
Integrin Α2

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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