P061 The macrophage-specific role of PTPN23 in Acute and Chronic Colitis
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Crohn's and Colitis"
DOI: 10.1093/ecco-jcc/jjad212.0191
Abstract: Single nucleotide polymorphisms within the gene locus encoding PTPN2, are associated with Crohn’s disease and ulcerative colitis. We have previously shown that, deletion of PTPN2 results in PTPN23 upregulation in intestinal epithelial cells (IEC) in… read more here.
Keywords: mice; chronic colitis; dss; role ... See more keywords
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia
Sign Up to like & getrecommendations! Published in 2021 at "Brain Sciences"
DOI: 10.3390/brainsci11050614
Abstract: The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as ‘pure’ when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and ‘complex’ when associated… read more here.
Keywords: ptpn23; ptpn23 variants; frameshift; hereditary spastic ... See more keywords