PubMed

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.

Njølstad PR, Sagen JV, Bjørkhaug L, Odili S, Shehadeh N, Bakry D, Sarici SU, Alpay F, Molnes J, Molven A, Søvik O, Matschinsky FM.

Diabetes. 2003 Nov;52(11):2854-60.PMID: 14578306 [PubMed - indexed for MEDLINE]Related articlesFree article

Neonatal diabetes mellitus due to complete glucokinase deficiency.

Njølstad PR, Søvik O, Cuesta-Muñoz A, Bjørkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI.

N Engl J Med. 2001 May 24;344(21):1588-92. No abstract available. PMID: 11372010 [PubMed - indexed for MEDLINE]Related articles

Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.

Rubio-Cabezas O, Díaz González F, Aragonés A, Argente J, Campos-Barros A.

Pediatr Diabetes. 2008 Jun;9(3 Pt 1):245-9. Epub 2008 Feb 21.PMID: 18298419 [PubMed - indexed for MEDLINE]Related articles

Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

Stoffel M, Froguel P, Takeda J, Zouali H, Vionnet N, Nishi S, Weber IT, Harrison RW, Pilkis SJ, Lesage S, et al.

Proc Natl Acad Sci U S A. 1992 Aug 15;89(16):7698-702. Erratum in: Proc Natl Acad Sci U S A 1992 Nov 1;89(21):10562. PMID: 1502186 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).

Shehadeh N, Bakri D, Njølstad PR, Gershoni-Baruch R.

Diabet Med. 2005 Aug;22(8):994-8.PMID: 16026363 [PubMed - indexed for MEDLINE]Related articles

Molecular screening of the glucokinase gene in familial type 2 (non-insulin-dependent) diabetes mellitus.

Elbein SC, Hoffman M, Qin H, Chiu K, Tanizawa Y, Permutt MA.

Diabetologia. 1994 Feb;37(2):182-7.PMID: 8163053 [PubMed - indexed for MEDLINE]Related articles

Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

Takeda J, Gidh-Jain M, Xu LZ, Froguel P, Velho G, Vaxillaire M, Cohen D, Shimada F, Makino H, Nishi S, et al.

J Biol Chem. 1993 Jul 15;268(20):15200-4.PMID: 8325892 [PubMed - indexed for MEDLINE]Related articlesFree article

Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy.

Turkkahraman D, Bircan I, Tribble ND, Akçurin S, Ellard S, Gloyn AL.

J Pediatr. 2008 Jul;153(1):122-6. Epub 2008 Mar 6.PMID: 18571549 [PubMed - indexed for MEDLINE]Related articles

Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

Hager J, Blanché H, Sun F, Vaxillaire NV, Poller W, Cohen D, Czernichow P, Velho G, Robert JJ, Cohen N, et al.

Diabetes. 1994 May;43(5):730-3.PMID: 8168652 [PubMed - indexed for MEDLINE]Related articles

Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Gloyn AL.

Hum Mutat. 2003 Nov;22(5):353-62. Review.PMID: 14517946 [PubMed - indexed for MEDLINE]Related articles

Permanent neonatal diabetes in an Asian infant.

Porter JR, Shaw NJ, Barrett TG, Hattersley AT, Ellard S, Gloyn AL.

J Pediatr. 2005 Jan;146(1):131-3. Review.PMID: 15644838 [PubMed - indexed for MEDLINE]Related articles

Glucokinase gene in gestational diabetes mellitus: population association study and molecular scanning.

Chiu KC, Go RC, Aoki M, Riggs AC, Tanizawa Y, Acton RT, Bell DS, Goldenberg RL, Roseman JM, Permutt MA.

Diabetologia. 1994 Jan;37(1):104-10.PMID: 8150222 [PubMed - indexed for MEDLINE]Related articles

Homozygosity for a common polymorphism in the islet-specific promoter of the glucokinase gene is associated with a reduced early insulin response to oral glucose in pregnant women.

Zaidi FK, Wareham NJ, McCarthy MI, Holdstock J, Kalloo-Hosein H, Krook A, Swinn RA, O'Rahilly S.

Diabet Med. 1997 Mar;14(3):228-34.PMID: 9088772 [PubMed - indexed for MEDLINE]Related articles

The beta cell glucokinase promoter variant is an unlikely risk factor for diabetes mellitus. Diabetes Incidence Study in Sweden (DISS).

Lotfi K, Sund G, Lowe R, Graham J, Landin-Olsson M, Kockum I, Deeb S, Lernmark A.

Diabetologia. 1997 Aug;40(8):959-62.PMID: 9267992 [PubMed - indexed for MEDLINE]Related articles

Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France.

Vaxillaire M, Samson C, Cavé H, Metz C, Froguel P, Polak M.

Diabetologia. 2002 Mar;45(3):454-5. No abstract available. PMID: 11914755 [PubMed - indexed for MEDLINE]Related articles

Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

Nam JH, Lee HC, Kim YH, Cha BS, Song YD, Lim SK, Kim KR, Huh KB.

Diabetes Res Clin Pract. 2000 Dec;50(3):169-76.PMID: 11106831 [PubMed - indexed for MEDLINE]Related articles

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

Gidh-Jain M, Takeda J, Xu LZ, Lange AJ, Vionnet N, Stoffel M, Froguel P, Velho G, Sun F, Cohen D, et al.

Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1932-6.PMID: 8446612 [PubMed - indexed for MEDLINE]Related articlesFree article

Nonsense mutation of glucokinase gene in late-onset non-insulin-dependent diabetes mellitus.

Katagiri H, Asano T, Ishihara H, Inukai K, Anai M, Miyazaki J, Tsukuda K, Kikuchi M, Yazaki Y, Oka Y.

Lancet. 1992 Nov 28;340(8831):1316-7.PMID: 1360036 [PubMed - indexed for MEDLINE]Related articles

The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.

Rica I, Luzuriaga C, Pérez de Nanclares G, Estalella I, Aragonés A, Barrio R, Bilbao JR, Carlés C, Fernández C, Fernández JM, Fernández-Rebollo E, Gastaldo E, Giralt P, Gomez Vida JM, Gutiérrez A, López Siguero JP, Martínez-Aedo MJ, Muñoz M, Prieto J, Rodrigo J, Vargas F, Castano L.

Diabet Med. 2007 Jul;24(7):707-13. Epub 2007 May 8.PMID: 17490422 [PubMed - indexed for MEDLINE]Related articles

Glucokinase mutations, insulin secretion, and diabetes mellitus.

Bell GI, Pilkis SJ, Weber IT, Polonsky KS.

Annu Rev Physiol. 1996;58:171-86. Review.PMID: 8815790 [PubMed - indexed for MEDLINE]Related articles