Neurexins in autism and schizophrenia—a review of patient mutations, mouse models and potential future directions
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Psychiatry"
DOI: 10.1038/s41380-020-00944-8
Abstract: Mutations in the family of neurexins (NRXN1, NRXN2 and NRXN3) have been repeatedly identified in patients with autism spectrum disorder (ASD) and schizophrenia (SCZ). However, it remains unclear how these DNA variants affect neurexin functions… read more here.
Keywords: mouse models; lof; schizophrenia review; neurexins autism ... See more keywords
MDB-13. GERMLINEELP1 DEFICIENCY SENSITIZES CEREBELLAR GRANULE NEURON PROGENITORS TO SHH MEDULLOBLASTOMA
Sign Up to like & getrecommendations! Published in 2024 at "Neuro-Oncology"
DOI: 10.1093/neuonc/noae064.462
Abstract: Abstract BACKGROUND Germline loss-of-function (LOF) variants in Elongator complex protein 1 (ELP1) are the most prevalent predisposing genetic events observed in medulloblastoma (MB), accounting for 30% of the Sonic Hedgehog 3 subtype (SHH-3). Molecularly, ELP1-associated… read more here.
Keywords: neuron progenitors; lof; elp1; cerebellar granule ... See more keywords
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort
Sign Up to like & getrecommendations! Published in 2024 at "JCI Insight"
DOI: 10.1172/jci.insight.178258
Abstract: Loss-of-function (LoF) variants in the filaggrin (FLG) gene are the strongest known genetic risk factor for atopic dermatitis (AD), but the impact of these variants on AD outcomes is poorly understood. We comprehensively identified genetic… read more here.
Keywords: lof; flg lof; variants associated; atopic dermatitis ... See more keywords
Advanced Lab-on-Fiber Optrodes Assisted by Oriented Antibody Immobilization Strategy
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DOI: 10.3390/bios12111040
Abstract: Lab-on-fiber (LoF) optrodes offer several advantages over conventional techniques for point-of-care platforms aimed at real-time and label-free detection of clinically relevant biomarkers. Moreover, the easy integration of LoF platforms in medical needles, catheters, and nano… read more here.
Keywords: antibody immobilization; fiber; oriented antibody; detection ... See more keywords