Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Nephrology"
DOI: 10.1007/s40620-020-00795-0
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a group of abnormalities that affect structure of the kidneys or other structures of the urinary tract. The majority of CAKUT are asymptomatic and are… read more here.
Keywords: agenesis; novel loss; renal agenesis; loss function ... See more keywords
A Novel Loss-of-Excitation Protection Strategy Based on Reactive Power Increment of Synchronous Generators
Sign Up to like & getrecommendations! Published in 2021 at "IEEE Transactions on Power Delivery"
DOI: 10.1109/tpwrd.2020.3048803
Abstract: This paper outlines a novel loss of excitation (LOE) protection scheme for synchronous generators (SGs) based on reactive power increment (RPI) strategy and tracking the variation of SG output voltage (VSG). When variation of the… read more here.
Keywords: novel loss; power; strategy; reactive power ... See more keywords
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23042253
Abstract: Branched-chain amino acids (BCAA) are essential amino acids playing crucial roles in protein synthesis and brain neurotransmission. Branched-chain ketoacid dehydrogenase (BCKDH), the flux-generating step of BCAA catabolism, is tightly regulated by reversible phosphorylation of its… read more here.
Keywords: function variant; loss function; bckdk; novel loss ... See more keywords
Novel Loss-of-Function Variant in HNF1a Induces β-Cell Dysfunction through Endoplasmic Reticulum Stress
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113022
Abstract: Heterozygous variants in the hepatocyte nuclear factor 1a (HNF1a) cause MODY3 (maturity-onset diabetes of the young, type 3). In this study, we found a case of novel HNF1a p.Gln125* (HNF1a-Q125ter) variant clinically. However, the molecular… read more here.
Keywords: hnf1a; stress; function; hnf1a q125ter ... See more keywords