NRXN1 Gene - GeneCards | NRX1B Protein | NRX1B Antibody
WEBAug 6, 2024 · NRXN1 (Neurexin 1) is a Protein Coding gene. Diseases associated with NRXN1 include Pitt-Hopkins-Like Syndrome 2 and Chromosome 2P16.3 Deletion Syndrome. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses.
9378 - Gene ResultNRXN1 neurexin 1 [ (human)] - National Center …
WEBThis gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca (2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system.
Neuronal impact of patient-specific aberrant NRXN1α splicing
WEBDec 19, 2019 · Patient-derived NRXN1 +/-hiPSC-neurons show a greater than twofold reduction in half of the wild-type NRXN1α isoforms and express dozens of novel isoforms from the mutant allele.
Neurexins: molecular codes for shaping neuronal synapses
WEBJan 8, 2021 · Constitutive misexpression of Nrxn1 AS4+ enhances NMDAR-mediated responses at hippocampal CA1–subiculum synapses, whereas Nrxn3 AS4+ misexpression suppresses AMPAR-mediated currents 94.
NRXN1 neurexin 1 [Homo sapiens (human)] - Gene - NCBI
WEBSep 19, 2024 · Title: Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings. The influence of NRXN1 on systemizing and the brain structure in healthy adults.
Genetic insights and neurobiological implications from NRXN1 in ...
WEBMay 28, 2019 · In this review, we focus on NRXN1, one of the most compelling psychiatric risk genes of the neurexin family.
Neuronal impact of patient-specific aberrant NRXN1α splicing
WEBNov 29, 2019 · NRXN1 undergoes extensive alternative splicing, and non-recurrent heterozygous deletions in NRXN1 are strongly associated with neuropsychiatric disorders.
NRXN1 as a novel potential target of antibody-drug conjugates …
WEBSep 9, 2020 · In this study, we searched for novel targets for antibody-drug conjugate (ADC) therapy for SCLC. We identified transmembrane proteins overexpressed specifically in SCLC with little or no expression in normal tissues and decided to focus on the cell adhesion molecule neurexin-1 (NRXN1).
Genetic regulation of Nrnx1 expression: an integrative cross …
WEBJul 26, 2011 · Neurexin 1 (NRXN1) is a large presynaptic transmembrane protein that has complex and variable patterns of expression in the brain. Sequence variants in NRXN1 are associated with differences in...
NRXN1 deletion syndrome; phenotypic and penetrance data from …
WEBThe spectrum of phenotypes associated with heterozygous deletions of neurexin-1 (NRXN1) is diverse and includes: autism spectrum disorder, attention deficit hyperactivity disorder, intellectual disability, seizures, schizophrenia, mood disorders and …
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