DNase-active TREX1 frame-shift mutants induce serologic autoimmunity in mice.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of autoimmunity"
DOI: 10.1016/j.jaut.2017.03.001
Abstract: TREX1/DNASE III, the most abundant 3'-5' DNA exonuclease in mammalian cells, is tail-anchored on the endoplasmic reticulum (ER). Mutations at the N-terminus affecting TREX1 DNase activity are associated with autoimmune and inflammatory conditions such as… read more here.
Keywords: frame shift; dnase; trex1; trex1 frame ... See more keywords
A homozygous frame‐shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14126
Abstract: We report four children from three related families who presented with a similar phenotype characterized by developmental delay, hypotonia, seizures, failure‐to‐thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations. They also shared common… read more here.
Keywords: genitourinary malformations; developmental delay; proser1; delay hypotonia ... See more keywords