scholarly journals The molecular functions of hepatocyte nuclear factors – In and beyond the liver

2018 ◽  
Vol 68 (5) ◽  
pp. 1033-1048 ◽  
Author(s):  
Hwee Hui Lau ◽  
Natasha Hui Jin Ng ◽  
Larry Sai Weng Loo ◽  
Joanita Binte Jasmen ◽  
Adrian Kee Keong Teo
2019 ◽  
Vol 22 (3) ◽  
pp. 274-280 ◽  
Author(s):  
Natalia A. Zubkova ◽  
Fatima F. Burumkulova ◽  
Vasily A. Petrukhin ◽  
Margarita A. Plechanova ◽  
Anton E. Panov ◽  
...  

MODY1 and MODY3 represent rare causes of diabetes in pregnancy. Establishing a molecular diagnosis of MODY1 or MODY3 during pregnancy may be important for minimizing risk of perinatal complications and for improving glycemic control after pregnancy. The objective of the study was to evaluate the contribution of mutations in HNF4A and HNF1A genes in development of diabetes in pregnancy and to describe clinical characteristics of diabetes in pregnancy associated with these mutations. 230 pregnant women (20-43 years) with different type of glucose intolerance complicated during their current pregnancy were included in the study. A custom NGS panel targeting 28 diabetes causative genes was used for sequencing. Heterozygous mutations in HNF4A and HNF1A genes were detected in 3% of cases. Mutations p.I271T in HNF4A gene and p.L148F, p.Y265C, p.G288W in HNF1A gene were novel. This study includes a description of patients with pregnancy diabetes due to mutations in hepatocyte nuclear factors.


2007 ◽  
Vol 282 (31) ◽  
pp. 22638-22650 ◽  
Author(s):  
Nicolas Jonckheere ◽  
Audrey Vincent ◽  
Michaël Perrais ◽  
Marie-Paule Ducourouble ◽  
Anita Korteland-van Male ◽  
...  

2018 ◽  
Vol 446 (1-2) ◽  
pp. 11-23 ◽  
Author(s):  
Elzbieta Sucajtys-Szulc ◽  
Alicja Debska-Slizien ◽  
Boleslaw Rutkowski ◽  
Ryszard Milczarek ◽  
Iwona Pelikant-Malecka ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document