Results 171 to 180 of about 3,579,984 (327)

Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe

open access: yesFEBS Open Bio, EarlyView.
Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

open access: yesFEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig   +7 more
wiley   +1 more source

Editorial: Virtual reality and empathy

open access: yesFrontiers in Psychology, 2022
Sofia Seinfeld   +4 more
doaj   +1 more source

Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia. [PDF]

open access: yesSci Rep
Karamazovova S   +9 more
europepmc   +1 more source

Down‐regulation of Shh in the hair follicles of mice during chemotherapy‐induced hair loss is mediated by the JAK/STAT1 signaling pathway

open access: yesFEBS Open Bio, EarlyView.
We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan   +6 more
wiley   +1 more source

Spatial perspective taking and social perspective taking

open access: yesThe Proceedings of the Annual Convention of the Japanese Psychological Association, 2014
openaire   +2 more sources

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