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Abnormal complex N-glycan level

MedGen UID:
1688563
•Concept ID:
C5139516
•
Finding
Synonym: Abnormal concentration of complex N-glycans on glycoproteins
 
HPO: HP:0410351

Definition

An abnormal concentration of complex N-glycans on glycoproteins. [from HPO]

Recent clinical studies

Etiology

The Association of the Polymorphisms in the FUT8-Related Locus with the Plasma Glycosylation in Post-Traumatic Stress Disorder.
Tudor L, Nedic Erjavec G, Nikolac Perkovic M, Konjevod M, Uzun S, Kozumplik O, Mimica N, Lauc G, Svob Strac D, Pivac N
Int J Mol Sci 2023 Mar 16;24(6) doi: 10.3390/ijms24065706. PMID: 36982780Free PMC Article

Diagnosis

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.
Fan S, Wu H, Wang R, Chen Q, Zhang X
Mol Genet Genomic Med 2024 Apr;12(4):e2422. doi: 10.1002/mgg3.2422. PMID: 38622837Free PMC Article
Defining the human kidney N-glycome in normal and cancer tissues using MALDI imaging mass spectrometry.
Drake RR, McDowell C, West C, David F, Powers TW, Nowling T, Bruner E, Mehta AS, Angel PM, Marlow LA, Tun HW, Copland JA
J Mass Spectrom 2020 Apr;55(4):e4490. Epub 2020 Jan 21 doi: 10.1002/jms.4490. PMID: 31860772Free PMC Article

Clinical prediction guides

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.
Fan S, Wu H, Wang R, Chen Q, Zhang X
Mol Genet Genomic Med 2024 Apr;12(4):e2422. doi: 10.1002/mgg3.2422. PMID: 38622837Free PMC Article
Complex-Type N-Glycans Are Associated with Cartilage Degeneration within Different Loading Sites of the Tibial Plateau for Knee Osteoarthritis Patients.
Lee YR, Briggs MT, Kuliwaba JS, Jagiello J, Anderson PH, Hoffmann P
J Proteome Res 2023 Aug 4;22(8):2694-2702. Epub 2023 Jul 7 doi: 10.1021/acs.jproteome.3c00251. PMID: 37417588
The Association of the Polymorphisms in the FUT8-Related Locus with the Plasma Glycosylation in Post-Traumatic Stress Disorder.
Tudor L, Nedic Erjavec G, Nikolac Perkovic M, Konjevod M, Uzun S, Kozumplik O, Mimica N, Lauc G, Svob Strac D, Pivac N
Int J Mol Sci 2023 Mar 16;24(6) doi: 10.3390/ijms24065706. PMID: 36982780Free PMC Article

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