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Pregled bibliografske jedinice broj: 661491

Mutations in HNF1A result in marked alterations of plasma glycan profile.

Thanabalasingham, G.; Huffman, J.E.; Kattla, J.J.; Novokmet, Mislav; Rudan, Igor; Gloyn, A.L.; Hayward, C.; Adamczyk, B.; Reynolds, R.M.; Mužinić, Ana et al.
Mutations in HNF1A result in marked alterations of plasma glycan profile. // Diabetes (New York, N.Y.), 62 (2012), 4; 1329-1337 doi:10.2337/db12-0880 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 661491 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Mutations in HNF1A result in marked alterations of plasma glycan profile.

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.

Izvornik
Diabetes (New York, N.Y.) (0012-1797) 62 (2012), 4; 1329-1337

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Projekti:
309-0061194-2023 - Glikoproteomika stresa i bolesti povezanih sa stresom

Ustanove:
Farmaceutsko-biokemijski fakultet, Zagreb,
Medicinski fakultet, Split,
Medicinski fakultet, Osijek,
GENOS d.o.o.

Profili:

Avatar Url Olga Gornik Kljaić (autor)

Avatar Url Ozren Polašek (autor)

Avatar Url Gordan Lauc (autor)

Avatar Url Mislav Novokmet (autor)

Avatar Url Ana Mužinić (autor)

Avatar Url Igor Rudan (autor)

Avatar Url Ivana Kolčić (autor)

Avatar Url Maja Pučić Baković (autor)

Avatar Url Lina Zgaga (autor)

Avatar Url Dragan Primorac (autor)

Poveznice na cjeloviti tekst rada:

doi diabetes.diabetesjournals.org

Citiraj ovu publikaciju:

Thanabalasingham, G.; Huffman, J.E.; Kattla, J.J.; Novokmet, Mislav; Rudan, Igor; Gloyn, A.L.; Hayward, C.; Adamczyk, B.; Reynolds, R.M.; Mužinić, Ana et al.
Mutations in HNF1A result in marked alterations of plasma glycan profile. // Diabetes (New York, N.Y.), 62 (2012), 4; 1329-1337 doi:10.2337/db12-0880 (međunarodna recenzija, članak, znanstveni)
Thanabalasingham, G., Huffman, J., Kattla, J., Novokmet, M., Rudan, I., Gloyn, A., Hayward, C., Adamczyk, B., Reynolds, R. & Mužinić, A. (2012) Mutations in HNF1A result in marked alterations of plasma glycan profile.. Diabetes (New York, N.Y.), 62 (4), 1329-1337 doi:10.2337/db12-0880.
@article{article, author = {Thanabalasingham, G. and Huffman, J.E. and Kattla, J.J. and Novokmet, Mislav and Rudan, Igor and Gloyn, A.L. and Hayward, C. and Adamczyk, B. and Reynolds, R.M. and Mu\v{z}ini\'{c}, Ana and Hassanali, N. and Pu\v{c}i\'{c}, Maja and Bennett, A.J. and Essafi, A. and Pola\v{s}ek, Ozren and Mughal, S.A. and Red\v{z}i\'{c}, Irma and Primorac, Dragan and Zgaga, Lina and Kol\v{c}i\'{c}, Ivana and Hansen, T. and Gasperikova, D. and Tjora, E. and Strachan, M.W. and Nielsen, T. and Stanik, Juraj and Klimes, I. and Pedersen, O.B. and Nj\olstad, P.R. and Wild, S.H. and Gyllensten, U. and Gornik, Olga and Wilson, J.F. and Hastie, N.D. and Campbell, H. and McCarthy, M.I. and Rudd, P.M. and Owen, K.R. and Lauc, Gordan and Wright, A.F.}, year = {2012}, pages = {1329-1337}, DOI = {10.2337/db12-0880}, keywords = {diabetes, MODY, glycosylation}, journal = {Diabetes (New York, N.Y.)}, doi = {10.2337/db12-0880}, volume = {62}, number = {4}, issn = {0012-1797}, title = {Mutations in HNF1A result in marked alterations of plasma glycan profile.}, keyword = {diabetes, MODY, glycosylation} }
@article{article, author = {Thanabalasingham, G. and Huffman, J.E. and Kattla, J.J. and Novokmet, Mislav and Rudan, Igor and Gloyn, A.L. and Hayward, C. and Adamczyk, B. and Reynolds, R.M. and Mu\v{z}ini\'{c}, Ana and Hassanali, N. and Pu\v{c}i\'{c}, Maja and Bennett, A.J. and Essafi, A. and Pola\v{s}ek, Ozren and Mughal, S.A. and Red\v{z}i\'{c}, Irma and Primorac, Dragan and Zgaga, Lina and Kol\v{c}i\'{c}, Ivana and Hansen, T. and Gasperikova, D. and Tjora, E. and Strachan, M.W. and Nielsen, T. and Stanik, Juraj and Klimes, I. and Pedersen, O.B. and Nj\olstad, P.R. and Wild, S.H. and Gyllensten, U. and Gornik, Olga and Wilson, J.F. and Hastie, N.D. and Campbell, H. and McCarthy, M.I. and Rudd, P.M. and Owen, K.R. and Lauc, Gordan and Wright, A.F.}, year = {2012}, pages = {1329-1337}, DOI = {10.2337/db12-0880}, keywords = {diabetes, MODY, glycosylation}, journal = {Diabetes (New York, N.Y.)}, doi = {10.2337/db12-0880}, volume = {62}, number = {4}, issn = {0012-1797}, title = {Mutations in HNF1A result in marked alterations of plasma glycan profile.}, keyword = {diabetes, MODY, glycosylation} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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