SLC35A2â CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Pathogenic de novo variants in the Xâ linked gene SLC35A2 encoding the major Golgiâ localized UDPâ galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2â congenital disorders of glycosylation (CDG; formerly CDGâ IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin Nâ glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2â CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2â dependent UDPâ galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wildâ type to mutant alleles in fibroblasts from affected individuals.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/1/humu23731_am.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/2/humu23731-sup-0001-Supp_Mat__2019.2.10_.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/150498/3/humu23731.pd

Revising working models across time: Relationship situations that enhance attachment security

We propose the Attachment Security Enhancement Model (ASEM) to suggest how romantic relationships can promote chronic attachment security. One part of the ASEM examines partner responses that protect relationships from the erosive effects of immediate insecurity, but such responses may not necessarily address underlying insecurities in a person’s mental models. Therefore, a second part of the ASEM examines relationship situations that foster more secure mental models. Both parts may work in tandem. We posit that attachment anxiety should decline most in situations that foster greater personal confidence and more secure mental models of the self. In contrast, attachment avoidance should decline most in situations that involve positive dependence and foster more secure models of close others. The ASEM integrates research and theory, suggests novel directions for future research, and has practical implications, all of which center on the idea that adult attachment orientations are an emergent property of close relationships

Electron Ejection from Single Crystals Due to 1- to 10-keV Noble-Gas Ion Bombardment

The secondary-electron ejection coeKcient y has been measured for the (110), (100), and (111)planes of Cu, Al, Ag, Ni, and Mo bombarded by the singly charged noble-gas ions Ne+, Ar+, Kr+, and Xe+ in the energy range from 1 to 10 keV. Surfaces were kept clean to within a fraction of a monolayer contamination by the sputtering action of the incident ion beams. The ratios ys&t/ys'q, 't' are quite constant, which would tend to indicate a theoretical model based on simple geometrical considerations of the opacity of the single crystal planes. However, the fact that the ratios are relatively insensitive to the ion-bombardment energy indicates that a model based upon the transparency of the target is not sufficient to explain the phenomenon. The dependence of y on the bombarding-ion mass is also explored

Stereotype Accommodation: A Socio-Cognitive Perspective on Migrants’ Cultural Adaptation

peer reviewedCognitive heuristics, or people’s stereotypes, are central to human interaction. Yet, the literature has been concerned with inter-ethnic stereotypes held by migrants and therefore has insufficiently addressed what might happen to individuals’ cognitive heuristics in the process of acculturating to host cultures. The authors discuss this gap in the literature by drawing on the culture learning perspective and work on cultural adaptation to examine migrants’ cognitive cultural adaptation. The concept of stereotype accommodation is introduced as a cognitive process whereby migrants incorporate the stereotype-relevant information learned in their host cultures into their preexisting stereotypes. Furthermore, a framework is presented for how cross-cultural differences, learning opportunities, individual differences, and cognitive resources might contribute to stereotype accommodation. The conclusion of this analysis is that, like any other individuals, migrants hold cognitive heuristics about varying groups in society and, moreover, these can be influenced and potentially modified by the mental short-cuts that are relevant in their host cultures