{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chmielewska JJ"],"funding":["National Center for Advancing Translational Sciences","Center for Advanced Systems and Engineering, Syracuse University","Narodowe Centrum Nauki","NIMH NIH HHS","National Institutes of Health","Wellcome Trust"],"pagination":["100033"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8439436"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["2(3)"],"pubmed_abstract":["Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense and truncating variants in <i>PTPN4</i> in six unrelated individuals with varying degrees of intellectual disability or developmental delay. The variants occurred <i>de novo</i> in all five subjects in whom segregation analysis was possible. Recurring features include postnatal growth deficiency or excess, seizures, and, less commonly, structural CNS, heart, or skeletal anomalies. <i>PTPN4</i> is a widely expressed protein tyrosine phosphatase that regulates neuronal cell homeos"],"journal":["HGG advances"],"pubmed_title":["<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growth."],"pmcid":["PMC8439436"],"funding_grant_id":["R01MH113106","R01 MH113106","2014/14/E/NZ3/00375"],"pubmed_authors":["Keren B","Burkardt D","Mignot C","Wynshaw-Boris A","Chmielewska JJ","Slaugh R","Seaver LH","Granadillo JL","Adegbola A","Zuteck M","Morgan S","Dziembowska M","Escobar L","Turnpenny P","Rotenberg J","Ploski R"],"additional_accession":[]},"is_claimable":false,"name":"<i>PTPN4</i> germline variants result in aberrant neurodevelopment and growth.","description":"Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense and truncating variants in <i>PTPN4</i> in six unrelated individuals with varying degrees of intellectual disability or developmental delay. The variants occurred <i>de novo</i> in all five subjects in whom segregation analysis was possible. Recurring features include postnatal growth deficiency or excess, seizures, and, less commonly, structural CNS, heart, or skeletal anomalies. <i>PTPN4</i> is a widely expressed protein tyrosine phosphatase that regulates neuronal cell homeos","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jul","modification":"2026-06-12T09:13:12.34Z","creation":"2022-02-11T16:14:22.017Z"},"accession":"S-EPMC8439436","cross_references":{"pubmed":["34527963"],"doi":["10.1016/j.xhgg.2021.100033"]}}