WebAlternative splicing produces 4 isoforms. The major isoforms are ITSN1-L and ITSN1-S. Expression for ITSN1 is ubiquitous in adult/fetal tissue, except isoform 1 which is mostly … WebA two-stage analysis of rare de novo and inherited coding variants in 42,607 ASD cases, including 35,130 new cases from the SPARK cohort, in Zhou et al., 2024 identified ITSN1 as a gene reaching exome-wide significance (P < 2.5E-06); association of ITSN1 with ASD risk was primarily driven by rare inherited loss-of-function variants.

Intersectin 1 enhances Cbl ubiquitylation of epidermal growth …

Web24 okt. 2024 · This study aimed to evaluate the predictive value of long non-coding RNA intersectin 1-2 (lnc-ITSN1-2) for acute ischemic stroke (AIS) risk, and investigate its correlation with disease severity, inflammation, and recurrence-free survival (RFS) in AIS patients. Methods Web28 okt. 2024 · ITSN1 gene (intersectin 1) is located on chromosome 21q22.11 and encodes a cytoplasmic membrane-associated protein involved in many cellular processes such as … iphone 11 selfie stick

Gene: ITSN1 - SFARI Gene

Web18 okt. 2007 · He et al. (2007) showed that mammalian Wnk1 ( 605232) and Wnk4 ( 601844) interacted with Itsn1 and that these interactions were crucial for stimulation of … Web17 dec. 2015 · These findings highlight a novel role for SPRY4-IT1 in controlling the intestinal epithelial barrier and define a mechanism by which SPRY4-IT1 modulates TJ … Web10 okt. 2011 · Intersectin 1 (ITSN1) is an evolutionarily conserved adaptor protein engaged in clathrin-mediated endocytosis, cell signaling and actin cytoskeleton rearrangements. Two major ITSN1 isoforms were initially described, the ubiquitous short isoform (ITSN1-s) and the long isoform (ITSN1-l) expressed predominantly in neurons. iphone 11 sem face id