2 documents found, page 1 of 1
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and C...
Maia, N; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Celia A; Prior, Catarina; Tkachenko, Nataliya; Santos, RosárioWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance...
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a co...
Polla, Daniel L.; Edmondson, Andrew C.; Duvet, Sandrine; March, Michael E.; Sousa, Ana Berta; Lehman, Anna; Niyazov, Dmitriy; van Dijk, FleurEDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and degraded by the proteasome. In this study, through a combination of exome sequencing and gene matching, we have identified seven independent families...