Colorectal cancer (CRC) is one of the most common malignant neoplasms and the second
leading cause of death from tumors worldwide. Therefore, there is a great need to study new …

Protein-truncating variants in α-1, 3-glucosyltransferase (ALG8) are a risk factor for a mild
cystic kidney disease phenotype. The association between these variants and liver cysts is …

α-1, 2-mannosyltransferase (ALG9) germline variants are linked to autosomal dominant
polycystic kidney disease (ADPKD). Many individuals affected with ADPKD possess …

SEC61A1 encodes a central protein of the mammalian translocon and dysfunction results in
severe disease. Recently, mutation R236C was identified in patients having autosomal …

Background & Aims Autosomal dominant polycystic liver disease is a rare condition with a
female preponderance, based mainly on pathogenic variants in 2 genes, PRKCSH and …

High platelet reactivity is associated with adverse clinical events and is more frequent in
people with diabetes mellitus (DM). To better understand platelet dysfunction in DM, we …

Background & objectives: SEC61A1 encodes a central protein of the mammalian translocon
machinery residing in the ER. Mutations of SEC61A1 are implicated to result in various …

The Journal of European Internal Medicine Professionals Page 1 10.5281/zenodo.11215949
70 The journal is licensed under:Attribution 4.0 International (CC BY 4.0). Coexistence of …