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Pregled bibliografske jedinice broj: 661491

Časopis

Autori: Thanabalasingham, G.; Huffman, J.E.; Kattla, J.J.; Novokmet, Mislav; Rudan, Igor; Gloyn, A.L.; Hayward, C.; Adamczyk, B.; Reynolds, R.M.; Mužinić, Ana; Hassanali, N.; Pučić, Maja; Bennett, A.J.; Essafi, A.; Polašek, Ozren; Mughal, S.A.; Redžić, Irma; Primorac, Dragan; Zgaga, Lina; Kolčić, Ivana; Hansen, T.; Gasperikova, D.; Tjora, E.; Strachan, M.W.; Nielsen, T.; Stanik, Juraj; Klimes, I.; Pedersen, O.B.; Njølstad, P.R.; Wild, S.H.; Gyllensten, U.; Gornik, Olga; Wilson, J.F.; Hastie, N.D.; Campbell, H.; McCarthy, M.I.; Rudd, P.M.; Owen, K.R.; Lauc, Gordan; Wright, A.F.
Naslov: Mutations in HNF1A result in marked alterations of plasma glycan profile.
Izvornik: Diabetes (New York, N.Y.) (0012-1797) 62 (2012), 4; 1329-1337
Vrsta rada: članak
Ključne riječi: diabetes; MODY; glycosylation
Sažetak:
A recent genome-wide association study identified hepatocyte nuclear factor 1-α (HNF1A) as a key regulator of fucosylation. We hypothesized that loss-of-function HNF1A mutations causal for maturity-onset diabetes of the young (MODY) would display altered fucosylation of N-linked glycans on plasma proteins and that glycan biomarkers could improve the efficiency of a diagnosis of HNF1A- MODY. In a pilot comparison of 33 subjects with HNF1A-MODY and 41 subjects with type 2 diabetes, 15 of 29 glycan measurements differed between the two groups. The DG9-glycan index, which is the ratio of fucosylated to nonfucosylated triantennary glycans, provided optimum discrimination in the pilot study and was examined further among additional subjects with HNF1A-MODY (n = 188), glucokinase (GCK)-MODY (n = 118), hepatocyte nuclear factor 4-α (HNF4A)-MODY (n = 40), type 1 diabetes (n = 98), type 2 diabetes (n = 167), and nondiabetic controls (n = 98). The DG9- glycan index was markedly lower in HNF1A-MODY than in controls or other diabetes subtypes, offered good discrimination between HNF1A-MODY and both type 1 and type 2 diabetes (C statistic ≥ 0.90), and enabled us to detect three previously undetected HNF1A mutations in patients with diabetes. In conclusion, glycan profiles are altered substantially in HNF1A-MODY, and the DG9-glycan index has potential clinical value as a diagnostic biomarker of HNF1A dysfunction.
Projekt / tema: 309-0061194-2023
Izvorni jezik: ENG
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti
URL Internet adrese: http://diabetes.diabetesjournals.org/content/62/4/1329
Broj citata:
Altmetric:
DOI: 10.2337/db12-0880
URL cjelovitog teksta:
Google Scholar: Mutations in HNF1A result in marked alterations of plasma glycan profile.
Upisao u CROSBI: Maja Pučić Baković (mpucic@genos.hr), 6. Pro. 2013. u 13:01 sati



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