Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia

Journal article

Glycosylation is a post-translational modification that occurs ubiquitously in the human body and essential for all biological and physiological body functions. An impaired or altered glycosylation process affects homeostasis, leading to diseases like congenital disorders of glycosylation (CDG), cancer and immunological disbalance. This thesis focuses on two glycosylation disorders, namely the ultra-rare phosphomannomutase 2 (PMM2)-CDG and the low incident triple negative breast cancer ...

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Authors: Kiparissi, F; Dastamani, A; Palm, L; Azabdaftari, A; Campos, L

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer
• Journal: Human Genetics
• Volume: 142
• Issue: 5
• Pages: 697-704
• Publication date: 2023-02-11
• DOI: 10.1007/s00439-023-02523-7
• EISSN: 1432-1203
• ISSN: 0340-6717
• Language: English
• Keywords: Internal medicine; Gastric mucosa; Medicine; Diabetes mellitus; Congenital hyperinsulinism; Biology; Endocrinology; PKD1; Polycystic ovary; Insulin resistance; Inflammatory bowel disease; Foveolar cell; Kidney; Hyperinsulinism; Polycystic kidney disease; Disease; Pathology; Stomach; Gastroenterology