Results 81 to 90 of about 31,428 (320)
The newfound relationship between extrachromosomal DNAs and excised signal circles
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 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
Efgartigimod beyond myasthenia gravis: the role of FcRn-targeting therapies in stiff-person syndrome [PDF]
Vincenzo Di Stefano +6 more
openalex +1 more source
The Psychosocial Effects of the Li-Fraumeni Education and Early Detection (LEAD) Program on Indivdiuals with Li-Fraumeni Syndrome [PDF]
Li-Fraumeni syndrome (LFS) is a hereditary cancer syndrome that leads to an increased risk of multiple cancers. In the past five years new screening protocols have been developed that provide improved screening options for individuals with LFS.
Ross, Jessica L
core +1 more source
Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley +1 more source
Stiff Person Syndrome Misdiagnosed as Oxaliplatin Induced Neurotoxicity [PDF]
K A Shaima +4 more
openalex +1 more source
The pectoralis minor muscle and shoulder movement-related impairments and pain: Rationale, assessment and management [PDF]
The adaptive shortening or tightness of the pectoralis minor muscle (PMm) is one of the potential biomechanical mechanisms associated with altered scapular alignment at rest and scapular motion during arm elevation (scapular dyskinesis) in patients with ...
Cruz, Joana, Morais, Nuno
core +1 more source
Diversity and complexity in neural organoids
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley +1 more source
Stiff-person Syndrome with Cerebellar Manifestations and Foot Deformities
Stiff-person syndrome (SPS) is a disabling disorder of the central nervous system that is characterized by episodic rigidity and spasticity. We report the case of a woman who had SPS with cerebellar manifestations (SPS-Cer) and asymmetric deformed feet ...
Cheng-I Chu +2 more
doaj +1 more source

