Abstract Shwachman‐Diamond syndrome (SDS) is a rare genetic disorder characterized by pancreatic insufficiency and neutropenia. While most cases are linked to mutations in the SBDS gene, some involve mutations in the GTPase EFL1. This protein works with SBDS to release the anti‐association factor eIF6 from the 60S ribosomal subunit during ribosome ...
Jonathan A. Zúñiga‐Domínguez +6 more
wiley +1 more source
Application of microsublimation for sample purification in compound-specific radiocarbon analysis. [PDF]
Heusser C +6 more
europepmc +1 more source
Unveiling nuclear localization signals in human arginine deiminase proteins
Abstract Arginine iminohydrolases are a family of enzymes involved in the conversion of arginine to citrulline. There are five isoforms in humans (PADI1, 2, 3, 4, and 6). Some of them are observed experimentally in the cytoplasm and in the nucleus of the cell; for moving to the latter location, they must pass through the cell nuclear membrane by using ...
José L. Neira +3 more
wiley +1 more source
Empirical Derivation and Prediction of Treatment Trajectories in Harmonized AUD Clinical Trial Datasets. [PDF]
Kohler RJ +7 more
europepmc +1 more source
This study aims to optimise the application methods of a biobased suspension of micro/nano cellulose fibrils from agro‐biomass subjected to high‐pressure homogenisation. Two methods were selected, bar coating (BC) and spray coating (SC), and were tested using an LF factorial design with 3 levels and 2 factors.
Andrea Feroce +2 more
wiley +1 more source
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses. [PDF]
Furuta Y +27 more
europepmc +1 more source
Cooling down for going up: Could selective ‘brain chilling’ mitigate high‐altitude illness?
Experimental Physiology, EarlyView.
Adnan Haq, Damian M. Bailey
wiley +1 more source
ABSTRACT We compiled 46 years of cetacean strandings in the Algarve, Portugal, describing temporal–spatial patterns, size–sex structure, and causes of death (COD). We analyzed national records and years with a dedicated regional stranding network (SN) to assess annual/seasonal trends, spatial hotspots, and compare biometrics and COD.
Jan Hofman +7 more
wiley +1 more source
Sex differences in the impact of social determinants of health on substance use disorder treatment outcomes. [PDF]
Chavez CLJ, Peltier MR, McKee SA.
europepmc +1 more source
What Sustains the Journal: Editorial Reflections on Peer Review and Progress of the <i>Canadian Journal of Psychiatry</i>. [PDF]
Yatham LN, Schaffer A, Editorial Board.
europepmc +1 more source

