Novel CIC variants identified in individuals with neurodevelopmental phenotypes
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24346
Abstract: Heterozygous pathogenic variants in CIC, which encodes a transcriptional repressor, have been identified in individuals with neurodevelopmental phenotypes. To date, 11 CIC variants have been associated with the CIC‐related neurodevelopmental syndrome. Here, we describe three… read more here.
Keywords: cic; partial loss; cic variants; individuals neurodevelopmental ... See more keywords
On the Heterogeneous Nature of Cisplatin-1-Methyluracil Complexes: Coexistence of Different Aggregation Modes and Partial Loss of NH3 Ligands as Likely Explanation.
Sign Up to like & getrecommendations! Published in 2021 at "ChemistryOpen"
DOI: 10.1002/open.202000317
Abstract: The conversion of the 1 : 1-complex of Cisplatin with 1-methyluracil (1MeUH), cis-[Pt(NH3 )2 (1MeU-N3)Cl] (1 a) to the aqua species cis-[Pt(NH3 )2 (1MeU-N3)(OH2 )]+ (1 b), achieved by reaction of 1 a with AgNO3 in water, affords a mixture… read more here.
Keywords: loss nh3; nh3 1meu; partial loss; nh3 ligands ... See more keywords
Adaptive fault tolerant control for a small coaxial rotor unmanned aerial vehicles with partial loss of actuator effectiveness
Sign Up to like & getrecommendations! Published in 2019 at "Aerospace Science and Technology"
DOI: 10.1016/j.ast.2019.03.016
Abstract: Abstract This paper investigates the trajectory tracking problem for a small coaxial-rotor unmanned aerial vehicle (CRUAV) with partial loss of actuator effectiveness. The CRUAV model is decomposed into a dual loop structure based on back-stepping… read more here.
Keywords: coaxial rotor; control; partial loss; rotor unmanned ... See more keywords
Fungal-fungal cocultivation leads to widespread secondary metabolite alteration requiring the partial loss-of-function VeA1 protein
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abo6094
Abstract: Microbial communication has attracted notable attention as an indicator of microbial interactions that lead to marked alterations of secondary metabolites (SMs) in varied environments. However, the mechanisms responsible for SM regulation are not fully understood,… read more here.
Keywords: function vea1; cocultivation; loss function; fungal fungal ... See more keywords
Partial loss of CFIm25 causes learning deficits and aberrant neuronal alternative polyadenylation
Sign Up to like & getrecommendations! Published in 2020 at "eLife"
DOI: 10.7554/elife.50895
Abstract: We previously showed that NUDT21-spanning copy-number variations (CNVs) are associated with intellectual disability (Gennarino et al., 2015). However, the patients’ CNVs also included other genes. To determine if reduced NUDT21 function alone can cause disease,… read more here.
Keywords: cfim25; intellectual disability; partial loss; learning deficits ... See more keywords