Functional Characterization of the 258 A/G (D2-ORFa-Gly3Asp) Human Type-2 Deiodinase Polymorphism: A Naturally Occurring Variant Increases the Enzymatic Activity by Removing a Putative Repressor Site in the 5′ UTR of the Gene

Thyroid ◽  
2006 ◽  
Vol 16 (7) ◽  
pp. 625-632 ◽  
Author(s):  
Giuseppe Coppotelli ◽  
Aaron Summers ◽  
Aaron Chidakel ◽  
Jaime M. Ross ◽  
Francesco S. Celi
Keyword(s):  
Enzymatic Activity ◽  
Functional Characterization ◽  
Human Type ◽  
Naturally Occurring

Functional characterization of two novel splicing mutations of glucokinase gene associated with maturity-onset diabetes of the young type 2 (MODY2)

2014 ◽  
Vol 48 (2) ◽  
pp. 248-253 ◽  
Author(s):  
E. L. Igudin ◽  
P. V. Spirin ◽  
V. S. Prasolov ◽  
N. A. Zubkova ◽  
E. E. Petryaikina ◽  
...  
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Functional Characterization ◽  
Maturity Onset Diabetes ◽  
Glucokinase Gene ◽  
Splicing Mutations ◽  
Onset Diabetes

Functional Characterization of Two Naturally Occurring Mutations in the Human Sodium-Phosphate Cotransporter Type IIa

2003 ◽  
Vol 18 (12) ◽  
pp. 2135-2141 ◽  
Author(s):  
Leila V Virkki ◽  
Ian C Forster ◽  
Nati Hernando ◽  
JÜRg Biber ◽  
Heini Murer
Keyword(s):  
Sodium Phosphate ◽  
Functional Characterization ◽  
Naturally Occurring

scholarly journals Functional Characterization of Naturally Occurring Mutant Androgen Receptors from Subjects with Complete Androgen Insensitivity

1990 ◽  
Vol 4 (12) ◽  
pp. 1759-1772 ◽  
Author(s):  
Terry R. Brown ◽  
Dennis B. Lubahn ◽  
Elizabeth M. Wilson ◽  
Frank S. French ◽  
Claude J. Migeon ◽  
...  
Keyword(s):  
Androgen Receptors ◽  
Functional Characterization ◽  
Androgen Insensitivity ◽  
Naturally Occurring

scholarly journals Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants

Diabetes ◽  
2016 ◽  
Vol 65 (12) ◽  
pp. 3805-3811 ◽  
Author(s):  
Soren K. Thomsen ◽  
Alessandro Ceroni ◽  
Martijn van de Bunt ◽  
Carla Burrows ◽  
Amy Barrett ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Functional Characterization ◽  
Diabetes Risk ◽  
Risk Variants ◽  
Causal Genes
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