-
1
-
-
77950348445
-
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention
-
Meur G, Simon A, Harun N et al. Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention. Diabetes 2010: 59: 653-661.
-
(2010)
Diabetes
, vol.59
, pp. 653-661
-
-
Meur, G.1
Simon, A.2
Harun, N.3
-
2
-
-
0036236749
-
Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics
-
Velho G, Robert JJ. Maturity-onset diabetes of the young (MODY): genetic and clinical characteristics. Horm Res 2002: 57(Suppl. 1): 29-33.
-
(2002)
Horm Res
, vol.57
, Issue.SUPPL. 1
, pp. 29-33
-
-
Velho, G.1
Robert, J.J.2
-
3
-
-
70149104834
-
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction
-
Borowiec M, Liew CW, Thompson R et al. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. Proc Natl Acad Sci USA 2009: 106: 14460-14465.
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 14460-14465
-
-
Borowiec, M.1
Liew, C.W.2
Thompson, R.3
-
4
-
-
79251489130
-
A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young
-
Jo W, Endo M, Ishizu K, Nakamura A, Tajima T. A novel PAX4 mutation in a Japanese patient with maturity-onset diabetes of the young. Tohoku J Exp Med 2011: 223: 113-118.
-
(2011)
Tohoku J Exp Med
, vol.223
, pp. 113-118
-
-
Jo, W.1
Endo, M.2
Ishizu, K.3
Nakamura, A.4
Tajima, T.5
-
5
-
-
0035960122
-
Molecular mechanisms and clinical pathophysiology of maturity onset diabetes of the young
-
Fajans SS, Bell GI, Polonsky KS. Molecular mechanisms and clinical pathophysiology of maturity onset diabetes of the young. N Engl J Med 2001: 345: 971-980.
-
(2001)
N Engl J Med
, vol.345
, pp. 971-980
-
-
Fajans, S.S.1
Bell, G.I.2
Polonsky, K.S.3
-
7
-
-
10744222821
-
Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway
-
Njolstad PR, Sagen JV, Bjorkhaug L et al. Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway. Diabetes 2003: 52: 2854-2860.
-
(2003)
Diabetes
, vol.52
, pp. 2854-2860
-
-
Njolstad, P.R.1
Sagen, J.V.2
Bjorkhaug, L.3
-
8
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
-
Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab 2008: 4: 200-213.
-
(2008)
Nat Clin Pract Endocrinol Metab
, vol.4
, pp. 200-213
-
-
Murphy, R.1
Ellard, S.2
Hattersley, A.T.3
-
9
-
-
70350741368
-
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia
-
Osbak KK, Colclough K, Saint-Martin C et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat 2009: 30: 1512-1526.
-
(2009)
Hum Mutat
, vol.30
, pp. 1512-1526
-
-
Osbak, K.K.1
Colclough, K.2
Saint-Martin, C.3
-
10
-
-
0034000635
-
A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria
-
Ellard S, Beards F, Allen LI et al. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria. Diabetologia 2000: 43: 250-253.
-
(2000)
Diabetologia
, vol.43
, pp. 250-253
-
-
Ellard, S.1
Beards, F.2
Allen, L.I.3
-
11
-
-
0032898369
-
Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase
-
Postic C, Shiota M, Niswender KD et al. Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase. J Biol Chem 1999: 274: 305-315.
-
(1999)
J Biol Chem
, vol.274
, pp. 305-315
-
-
Postic, C.1
Shiota, M.2
Niswender, K.D.3
-
12
-
-
0032880513
-
Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia
-
Mahalingam B, Cuesta-Munoz A, Davis EA, Matschinsky FM, Harrison RW, Weber IT. Structural model of human glucokinase in complex with glucose and ATP: implications for the mutants that cause hypo- and hyperglycemia. Diabetes 1999: 48: 1698-1705.
-
(1999)
Diabetes
, vol.48
, pp. 1698-1705
-
-
Mahalingam, B.1
Cuesta-Munoz, A.2
Davis, E.A.3
Matschinsky, F.M.4
Harrison, R.W.5
Weber, I.T.6
-
13
-
-
0030067124
-
Banting Lecture 1995: a lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm
-
Matschinsky FM. Banting Lecture 1995: a lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm. Diabetes 1996: 45: 223-241.
-
(1996)
Diabetes
, vol.45
, pp. 223-241
-
-
Matschinsky, F.M.1
-
14
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988: 16: 1215.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
15
-
-
34648836843
-
Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel
-
Stern E, Strihan C, Potievsky O et al. Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel. J Pediatr Endocrinol Metab 2007: 20: 909-921.
-
(2007)
J Pediatr Endocrinol Metab
, vol.20
, pp. 909-921
-
-
Stern, E.1
Strihan, C.2
Potievsky, O.3
-
16
-
-
0036884903
-
GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY)
-
Cao H, Shorey S, Robinson J et al. GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY). Hum Mutat 2002: 20: 478-479.
-
(2002)
Hum Mutat
, vol.20
, pp. 478-479
-
-
Cao, H.1
Shorey, S.2
Robinson, J.3
-
17
-
-
30044443396
-
Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability
-
Galan M, Vincent O, Roncero I et al. Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability. Biochem J 2006: 393: 389-396.
-
(2006)
Biochem J
, vol.393
, pp. 389-396
-
-
Galan, M.1
Vincent, O.2
Roncero, I.3
-
18
-
-
0342902204
-
Neonatal diabetes mellitus due to complete glucokinase deficiency
-
Njolstad PR, Sovik O, Cuesta-Munoz A et al. Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 2001: 344: 1588-1592.
-
(2001)
N Engl J Med
, vol.344
, pp. 1588-1592
-
-
Njolstad, P.R.1
Sovik, O.2
Cuesta-Munoz, A.3
-
19
-
-
43449100654
-
Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients
-
Estalella I, Garcia-Gimeno MA, Marina A, Castano L, Sanz P. Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients. J Hum Genet 2008: 53: 460-466.
-
(2008)
J Hum Genet
, vol.53
, pp. 460-466
-
-
Estalella, I.1
Garcia-Gimeno, M.A.2
Marina, A.3
Castano, L.4
Sanz, P.5
-
20
-
-
77953231974
-
Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry
-
Atzmon G, Hao L, Pe'er I et al. Abraham's children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry. Am J Hum Genet 2010: 86: 850-859.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 850-859
-
-
Atzmon, G.1
Hao, L.2
Pe'er, I.3
-
21
-
-
78649803027
-
Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations
-
Pruhova S, Dusatkova P, Sumnik Z et al. Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. Pediatr Diabetes 2010: 11: 529-535.
-
(2010)
Pediatr Diabetes
, vol.11
, pp. 529-535
-
-
Pruhova, S.1
Dusatkova, P.2
Sumnik, Z.3
-
22
-
-
84873495191
-
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population
-
Borowiec M, Antosik K, Fendler W et al. Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population. Clin Genet. In press.
-
Clin Genet
-
-
Borowiec, M.1
Antosik, K.2
Fendler, W.3
-
24
-
-
0027472126
-
Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus
-
Froguel P, Zouali H, Vionnet N et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993: 328: 697-702.
-
(1993)
N Engl J Med
, vol.328
, pp. 697-702
-
-
Froguel, P.1
Zouali, H.2
Vionnet, N.3
-
25
-
-
2142743355
-
Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)
-
Thomson KL, Gloyn AL, Colclough K et al. Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY). Hum Mutat 2003: 22: 417.
-
(2003)
Hum Mutat
, vol.22
, pp. 417
-
-
Thomson, K.L.1
Gloyn, A.L.2
Colclough, K.3
-
26
-
-
34548702640
-
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain
-
Estalella I, Rica I, Perez de Nanclares G et al. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol (Oxf) 2007: 67: 538-546.
-
(2007)
Clin Endocrinol (Oxf)
, vol.67
, pp. 538-546
-
-
Estalella, I.1
Rica, I.2
Perez de Nanclares, G.3
-
27
-
-
0029954098
-
A new missense mutation in the glucokinase gene in an Italian MODY family
-
Bertini C, Maioli M, Fresu P, Tonolo G, Pirastu M. A new missense mutation in the glucokinase gene in an Italian MODY family. Diabetologia 1996: 39: 1413-1414.
-
(1996)
Diabetologia
, vol.39
, pp. 1413-1414
-
-
Bertini, C.1
Maioli, M.2
Fresu, P.3
Tonolo, G.4
Pirastu, M.5
-
28
-
-
23844518966
-
Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1
-
Johansen A, Ek J, Mortensen HB, Pedersen O, Hansen T. Half of clinically defined maturity-onset diabetes of the young patients in Denmark do not have mutations in HNF4A, GCK, and TCF1. J Clin Endocrinol Metab 2005: 90: 4607-4614.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4607-4614
-
-
Johansen, A.1
Ek, J.2
Mortensen, H.B.3
Pedersen, O.4
Hansen, T.5
-
29
-
-
0242333673
-
Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young
-
Mantovani V, Salardi S, Cerreta V et al. Identification of eight novel glucokinase mutations in Italian children with maturity-onset diabetes of the young. Hum Mutat 2003: 22: 338.
-
(2003)
Hum Mutat
, vol.22
, pp. 338
-
-
Mantovani, V.1
Salardi, S.2
Cerreta, V.3
-
30
-
-
0034947265
-
High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP)
-
Massa O, Meschi F, Cuesta-Munoz A et al. High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP). Diabetologia 2001: 44: 898-905.
-
(2001)
Diabetologia
, vol.44
, pp. 898-905
-
-
Massa, O.1
Meschi, F.2
Cuesta-Munoz, A.3
-
31
-
-
30044441418
-
Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY)
-
Toaima D, Nake A, Wendenburg J et al. Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY). Hum Mutat 2005: 25: 503-504.
-
(2005)
Hum Mutat
, vol.25
, pp. 503-504
-
-
Toaima, D.1
Nake, A.2
Wendenburg, J.3
-
32
-
-
70349658847
-
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families
-
Lorini R, Klersy C, d'Annunzio G et al. Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Diabetes Care 2009: 32: 1864-1866.
-
(2009)
Diabetes Care
, vol.32
, pp. 1864-1866
-
-
Lorini, R.1
Klersy, C.2
d'Annunzio, G.3
-
33
-
-
8044260804
-
Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
-
Velho G, Blanche H, Vaxillaire M et al. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families. Diabetologia 1997: 40: 217-224.
-
(1997)
Diabetologia
, vol.40
, pp. 217-224
-
-
Velho, G.1
Blanche, H.2
Vaxillaire, M.3
-
34
-
-
0034851537
-
Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes
-
Kousta E, Ellard S, Allen LI et al. Glucokinase mutations in a phenotypically selected multiethnic group of women with a history of gestational diabetes. Diabet Med 2001: 18: 683-684.
-
(2001)
Diabet Med
, vol.18
, pp. 683-684
-
-
Kousta, E.1
Ellard, S.2
Allen, L.I.3
-
35
-
-
0026937234
-
Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes
-
Stoffel M, Patel P, Lo YM et al. Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes. Nat Genet 1992: 2: 153-156.
-
(1992)
Nat Genet
, vol.2
, pp. 153-156
-
-
Stoffel, M.1
Patel, P.2
Lo, Y.M.3
-
36
-
-
33748319627
-
Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients
-
Vits L, Beckers D, Craen M et al. Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. Clin Genet 2006: 70: 355-359.
-
(2006)
Clin Genet
, vol.70
, pp. 355-359
-
-
Vits, L.1
Beckers, D.2
Craen, M.3
|