Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Rheumatology"
DOI: 10.1007/s10067-020-05205-1
Abstract: Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical… read more here.
Keywords: transaldolase deficiency; systemic lupus; lupus erythematosus; transaldolase ... See more keywords
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation
Sign Up to like & getrecommendations! Published in 2019 at "EBioMedicine"
DOI: 10.1016/j.ebiom.2019.03.013
Abstract: Background The heterotrimeric GTP-binding protein eIF2 forms a ternary complex with initiator methionyl-tRNA and recruits it to the 40S ribosomal subunit for start codon selection and thereby initiates protein synthesis. Mutations in EIF2S3, encoding the… read more here.
Keywords: glucose dysregulation; impaired eif2s3; hypopituitarism; novel phenotype ... See more keywords