Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic mutations in the TALDO1 gene.It is characterized by intrauterine growth restriction, dysmorphism, cytopenia, hepatosplenomegaly, liver cirrhosis, endocrine problems, and skin, renal and cardiac abnormalities.We present two siblings of Turkish origin with an e
Abstract Background LNX (Ligand of Numb Protein-X) proteins typically contain an amino-terminal RING domain adjacent to either two or four PDZ domains - a domain architecture that is unique to the LNX family.LNX proteins function as E3 ubiquitin ligases and their domain organisation suggests that their ubiquitin ligase activity may be targeted to s
The title compound, C29H20ClNOS, is a 1-substituted-3-phenylisoquinoline that crystallizes with four independent molecules in the asymmtric unit.The four molecules have similar click here C—S—C angles.The most noteworthy differences between the molecules relate to the inclination of the 3-phenyl subsituent with respect to the is
chocolate chip cookie purse Ana Sofia Carvalho,1–3 Sandra Martins Pereira,1–3 António Jácomo,1–3 Susana Magalhães,1,2,4 Joana Araújo,1–3 Pablo Hernández-Marrero,1–3 Carlos Costa Gomes,1–3 Michael E Schatman5,6 1Instituto de Bioética, Universidade Católica Portugues
The stability analysis of damaged landslides and unstable debris is important for rescue work and emergency operations.This paper investigates a predisposed geological emergence, inducing the factors click here and deformation processes of the Zhongbao landslide, which happened on July 25, 2020.The stability of the landslide debris was evaluated by