Associated Papers
PAX1 represses canonical Wnt signaling pathway and plays dual roles during endoderm differentiation.
Miao D et al.
Cell Communication and Signaling : Ccs, 2024
A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.
Elbagoury NM et al.
Journal of Molecular Neuroscience : Mn, 2023
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.
Sherlaw-Sturrock C et al.
European Journal of Medical Genetics, 2022
An overview of PAX1: Expression, function and regulation in development and diseases.
Wu W et al.
Frontiers in Cell and Developmental Biology, 2022
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM5_ESM.docx
PAX1 is essential for development and function of the human thymus.
Yamazaki Y et al.
Science Immunology, 2020
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.
Patil SJ et al.
American Journal of Medical Genetics. Part A, 2018
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.
Paganini I et al.
Clinical Genetics, 2017
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.
Pohl E et al.
Human Genetics, 2013
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