ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.007
Abstract: ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth… read more here.
Keywords: cause syndromic; zmiz1 variants; variants cause; zmiz1 ... See more keywords
Abstract 7056: The impact of aberrant ZMIZ1 protein expression in pediatric acute lymphoblastic leukemia
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DOI: 10.1158/1538-7445.am2025-7056
Abstract: While the outcomes for pediatric acute lymphoblastic leukemia (ALL) have improved dramatically over the past 30 years, up to 20% of patients relapse and their prognosis is poor. Collaborators at St. Jude’s Research Hospital discovered… read more here.
Keywords: pediatric acute; acute lymphoblastic; zmiz1; expression ... See more keywords
Zmiz1 is a novel regulator of brain development associated with autism and intellectual disability
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DOI: 10.3389/fpsyt.2024.1375492
Abstract: Neurodevelopmental disorders (NDDs) are a class of pathologies arising from perturbations in brain circuit formation and maturation with complex etiological triggers often classified as environmental and genetic. Neuropsychiatric conditions such as autism spectrum disorders (ASD),… read more here.
Keywords: brain development; zmiz1; brain; intellectual disability ... See more keywords
Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability
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DOI: 10.3390/genes12101583
Abstract: The OTUD6B and ZMIZ1 genes were recently identified as causes of syndromic intellectual disability (ID) with shared phenotypes of facial dysmorphism, distal limb anomalies, and seizure disorders. OTUD6B- and ZMIZ1-related ID are inherited in autosomal… read more here.
Keywords: intellectual disability; point mutation; zmiz1 variant; zmiz1 ... See more keywords