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
Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2024.1359479
Abstract: Introduction CACNA1S related congenital myopathy is an emerging recently described entity. In this report we describe 2 sisters with mutations in the CACNA1S gene and the novel phenotype of congenital myopathy and infantile onset episodic… read more here.
Keywords: cacna1s; congenital myopathy; novel phenotype; report ... See more keywords