Results 31 to 40 of about 104,643 (290)
Frontiers in Genetics, 2021 IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer +3 more
doaj +1 more source
Cahiers d'études africaines, 2014 Le saxophoniste Albert Ayler enregistre en 1969 « Masonic Inborn », une longue et intense improvisation a la cornemuse. C’est, a notre connaissance, le seul titre de l’histoire du jazz faisant ouvertement reference a la tradition maconnique. Cette rarete ne doit pourtant pas occulter que le fait maconnique demeure un sujet passionnant et meconnu de l ...
openaire +2 more sources
Orphanet Journal of Rare Diseases, 2018 The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri +8 more
doaj +1 more source
The newfound relationship between extrachromosomal DNAs and excised signal circles
FEBS Letters, EarlyView.Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina : Genotype, Experiences, Anecdotes, and New Learnings [PDF]
, 2015 The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Ceci, Romina +3 more
core +5 more sources
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
Function of Fast Reflexion in Bipolar choice [PDF]
, 2002 Our view of "reflexion" has been essentially broadened during the last twenty years. Traditionally we have considered it to consist of the conscious constructing of images of the self and others by human beings.
Adams-Webber, Jack +1 more
core
Historic landmarks in clinical transplantation: Conclusions from the consensus conference at the University of California, Los Angeles [PDF]
, 2000 The transplantation of organs, cells, and tissues has burgeoned during the last quarter century, with the development of multiple new specialty fields.
Brent, LB +11 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source