-
1
-
-
49649123602
-
Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study)
-
Eide S.A., et al. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabet. Med. 2008, 25:775-781.
-
(2008)
Diabet. Med.
, vol.25
, pp. 775-781
-
-
Eide, S.A.1
-
2
-
-
41149084500
-
Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes
-
Murphy R., et al. 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
-
3
-
-
70349578557
-
The diagnosis and management of monogenic diabetes in children and adolescents
-
Hattersley A., et al. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr. Diabetes 2009, 10(Suppl. 12):33-42.
-
(2009)
Pediatr. Diabetes
, vol.10
, Issue.SUPPL. 12
, pp. 33-42
-
-
Hattersley, A.1
-
4
-
-
33646469448
-
Diabetes mellitus in infants under one year of age; report of a case and review of the literature
-
Schwartzman J., et al. Diabetes mellitus in infants under one year of age; report of a case and review of the literature. Am. J. Dis. Child 1947, 74:587-606.
-
(1947)
Am. J. Dis. Child
, vol.74
, pp. 587-606
-
-
Schwartzman, J.1
-
5
-
-
77955274988
-
Transient diabetes in infancy
-
Keidan S.E. Transient diabetes in infancy. Arch. Dis. Child 1955, 30:291-296.
-
(1955)
Arch. Dis. Child
, vol.30
, pp. 291-296
-
-
Keidan, S.E.1
-
6
-
-
0018356027
-
Transient neonatal diabetes mellitus. Treatment with chlorpropamide
-
Kuna P., Addy D.P. Transient neonatal diabetes mellitus. Treatment with chlorpropamide. Am. J. Dis. Child 1979, 133:65-66.
-
(1979)
Am. J. Dis. Child
, vol.133
, pp. 65-66
-
-
Kuna, P.1
Addy, D.P.2
-
7
-
-
0024523914
-
Transient neonatal diabetes mellitus in a pair of twins
-
Nielsen F. Transient neonatal diabetes mellitus in a pair of twins. Acta Paediatr. Scand. 1989, 78:469-472.
-
(1989)
Acta Paediatr. Scand.
, vol.78
, pp. 469-472
-
-
Nielsen, F.1
-
8
-
-
0033822154
-
HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases
-
Marquis E., et al. HLA-DRB1 and DQB1 genotypes in patients with insulin-dependent neonatal diabetes mellitus. A study of 13 cases. Tissue Antigens 2000, 56:217-222.
-
(2000)
Tissue Antigens
, vol.56
, pp. 217-222
-
-
Marquis, E.1
-
9
-
-
33748333167
-
HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months
-
Edghill E.L., et al. HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months. Diabetes 2006, 55:1895-1898.
-
(2006)
Diabetes
, vol.55
, pp. 1895-1898
-
-
Edghill, E.L.1
-
10
-
-
0029243704
-
An imprinted gene(s) for diabetes?
-
Temple I.K., et al. An imprinted gene(s) for diabetes?. Nat. Genet. 1995, 9:110-112.
-
(1995)
Nat. Genet.
, vol.9
, pp. 110-112
-
-
Temple, I.K.1
-
11
-
-
0036487987
-
Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus
-
Mackay D.J., et al. Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus. Hum. Genet. 2002, 110:139-144.
-
(2002)
Hum. Genet.
, vol.110
, pp. 139-144
-
-
Mackay, D.J.1
-
12
-
-
0031031571
-
Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
-
Stoffers D.A., et al. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat. Genet. 1997, 15:106-110.
-
(1997)
Nat. Genet.
, vol.15
, pp. 106-110
-
-
Stoffers, D.A.1
-
13
-
-
0141787919
-
Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1
-
Schwitzgebel V.M., et al. Agenesis of human pancreas due to decreased half-life of insulin promoter factor 1. J. Clin. Endocrinol. Metab. 2003, 88:4398-4406.
-
(2003)
J. Clin. Endocrinol. Metab.
, vol.88
, pp. 4398-4406
-
-
Schwitzgebel, V.M.1
-
14
-
-
75549091478
-
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation
-
Thomas I.H., et al. Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr. Diabetes 2009, 10:492-496.
-
(2009)
Pediatr. Diabetes
, vol.10
, pp. 492-496
-
-
Thomas, I.H.1
-
15
-
-
77950355686
-
A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency
-
Nicolino M., et al. A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency. Diabetes 2010, 59:733-740.
-
(2010)
Diabetes
, vol.59
, pp. 733-740
-
-
Nicolino, M.1
-
16
-
-
0342902204
-
Neonatal diabetes mellitus due to complete glucokinase deficiency
-
Njolstad P.R., 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
-
17
-
-
0034425698
-
EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome
-
Delepine M., et al. EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. Nat. Genet. 2000, 25:406-409.
-
(2000)
Nat. Genet.
, vol.25
, pp. 406-409
-
-
Delepine, M.1
-
18
-
-
70449103419
-
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families
-
Rubio-Cabezas O., et al. Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families. J. Clin. Endocrinol. Metab. 2009, 94:4162-4170.
-
(2009)
J. Clin. Endocrinol. Metab.
, vol.94
, pp. 4162-4170
-
-
Rubio-Cabezas, O.1
-
19
-
-
9644255692
-
Mutations in PTF1A cause pancreatic and cerebellar agenesis
-
Sellick G.S., et al. Mutations in PTF1A cause pancreatic and cerebellar agenesis. Nat. Genet. 2004, 36:1301-1305.
-
(2004)
Nat. Genet.
, vol.36
, pp. 1301-1305
-
-
Sellick, G.S.1
-
20
-
-
33751206505
-
Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development
-
Edghill E.L., et al. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet. Med. 2006, 23:1301-1306.
-
(2006)
Diabet. Med.
, vol.23
, pp. 1301-1306
-
-
Edghill, E.L.1
-
21
-
-
2942666206
-
Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism
-
Yorifuji T., et al. Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism. J. Clin. Endocrinol. Metab. 2004, 89:2905-2908.
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, pp. 2905-2908
-
-
Yorifuji, T.1
-
22
-
-
64549112708
-
Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes
-
Rubio-Cabezas O., et al. Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes. Diabetes Care 2009, 32:111-116.
-
(2009)
Diabetes Care
, vol.32
, pp. 111-116
-
-
Rubio-Cabezas, O.1
-
23
-
-
0035163909
-
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
-
Wildin R.S., et al. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 2001, 27:18-20.
-
(2001)
Nat. Genet.
, vol.27
, pp. 18-20
-
-
Wildin, R.S.1
-
24
-
-
33745268851
-
Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism
-
Senee V., et al. Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism. Nat. Genet. 2006, 38:682-687.
-
(2006)
Nat. Genet.
, vol.38
, pp. 682-687
-
-
Senee, V.1
-
25
-
-
2342633204
-
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
-
Gloyn A.L., et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N. Engl. J. Med. 2004, 350:1838-1849.
-
(2004)
N. Engl. J. Med.
, vol.350
, pp. 1838-1849
-
-
Gloyn, A.L.1
-
26
-
-
33746778878
-
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
-
Babenko A.P., et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N. Engl. J. Med. 2006, 355:456-466.
-
(2006)
N. Engl. J. Med.
, vol.355
, pp. 456-466
-
-
Babenko, A.P.1
-
27
-
-
33744722778
-
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes
-
Proks P., et al. A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes. Hum. Mol. Genet. 2006, 15:1793-1800.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1793-1800
-
-
Proks, P.1
-
28
-
-
34547747922
-
Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects
-
Ellard S., et al. Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects. Am. J. Hum. Genet. 2007, 81:375-382.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 375-382
-
-
Ellard, S.1
-
29
-
-
34347387276
-
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood
-
Flanagan S.E., et al. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007, 56:1930-1937.
-
(2007)
Diabetes
, vol.56
, pp. 1930-1937
-
-
Flanagan, S.E.1
-
30
-
-
34249658527
-
New ABCC8 mutations in relapsing neonatal diabetes and clinical features
-
Vaxillaire M., et al. New ABCC8 mutations in relapsing neonatal diabetes and clinical features. Diabetes 2007, 56:1737-1741.
-
(2007)
Diabetes
, vol.56
, pp. 1737-1741
-
-
Vaxillaire, M.1
-
31
-
-
46449133351
-
A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes
-
de Wet H., et al. A mutation (R826W) in nucleotide-binding domain 1 of ABCC8 reduces ATPase activity and causes transient neonatal diabetes. EMBO Rep. 2008, 9:648-654.
-
(2008)
EMBO Rep.
, vol.9
, pp. 648-654
-
-
de Wet, H.1
-
32
-
-
4644260056
-
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy
-
Sagen J.V., et al. Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy. Diabetes 2004, 53:2713-2718.
-
(2004)
Diabetes
, vol.53
, pp. 2713-2718
-
-
Sagen, J.V.1
-
33
-
-
4644309915
-
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
-
Vaxillaire M., et al. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes 2004, 53:2719-2722.
-
(2004)
Diabetes
, vol.53
, pp. 2719-2722
-
-
Vaxillaire, M.1
-
34
-
-
8744262895
-
Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2
-
Zung A., et al. Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. J. Clin. Endocrinol. Metab. 2004, 89:5504-5507.
-
(2004)
J. Clin. Endocrinol. Metab.
, vol.89
, pp. 5504-5507
-
-
Zung, A.1
-
35
-
-
14644408737
-
High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation
-
Codner E., et al. High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation. Diabetes Care 2005, 28:758-759.
-
(2005)
Diabetes Care
, vol.28
, pp. 758-759
-
-
Codner, E.1
-
36
-
-
20244368494
-
Relapsing diabetes can result from moderately activating mutations in KCNJ11
-
Gloyn A.L., et al. Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum. Mol. Genet. 2005, 14:925-934.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 925-934
-
-
Gloyn, A.L.1
-
37
-
-
20044387060
-
The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation
-
Klupa T., et al. The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation. Diabetologia 2005, 48:1029-1031.
-
(2005)
Diabetologia
, vol.48
, pp. 1029-1031
-
-
Klupa, T.1
-
38
-
-
19944427182
-
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
-
Massa O., et al. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum. Mutat. 2005, 25:22-27.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 22-27
-
-
Massa, O.1
-
39
-
-
33646513278
-
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype
-
Flanagan S.E., et al. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia 2006, 49:1190-1197.
-
(2006)
Diabetologia
, vol.49
, pp. 1190-1197
-
-
Flanagan, S.E.1
-
40
-
-
33745288813
-
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features
-
Gloyn A.L., et al. KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features. Eur. J. Hum. Genet. 2006, 14:824-830.
-
(2006)
Eur. J. Hum. Genet.
, vol.14
, pp. 824-830
-
-
Gloyn, A.L.1
-
41
-
-
21244487124
-
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus
-
Yorifuji T., et al. The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J. Clin. Endocrinol. Metab. 2005, 90:3174-3178.
-
(2005)
J. Clin. Endocrinol. Metab.
, vol.90
, pp. 3174-3178
-
-
Yorifuji, T.1
-
42
-
-
33746738864
-
Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene
-
Tonini G., et al. Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene. Diabetologia 2006, 49:2210-2213.
-
(2006)
Diabetologia
, vol.49
, pp. 2210-2213
-
-
Tonini, G.1
-
43
-
-
33746427542
-
Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes
-
Hathout E., et al. Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes. Diabetes Care 2006, 29:1458.
-
(2006)
Diabetes Care
, vol.29
, pp. 1458
-
-
Hathout, E.1
-
44
-
-
33746686369
-
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
-
Pearson E.R., et al. Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations. N. Engl. J. Med. 2006, 355:467-477.
-
(2006)
N. Engl. J. Med.
, vol.355
, pp. 467-477
-
-
Pearson, E.R.1
-
45
-
-
35448994352
-
Insulin gene mutations as a cause of permanent neonatal diabetes
-
Stoy J., et al. Insulin gene mutations as a cause of permanent neonatal diabetes. Proc. Natl. Acad. Sci. U. S. A. 2007, 104:15040-15044.
-
(2007)
Proc. Natl. Acad. Sci. U. S. A.
, vol.104
, pp. 15040-15044
-
-
Stoy, J.1
-
46
-
-
76749108047
-
Rfx6 directs islet formation and insulin production in mice and humans
-
Smith S.B., et al. Rfx6 directs islet formation and insulin production in mice and humans. Nature 2010, 463:775-780.
-
(2010)
Nature
, vol.463
, pp. 775-780
-
-
Smith, S.B.1
-
47
-
-
34547124328
-
Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11
-
Chan Y.M., Laffel L.M. Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11. Pediatr. Diabetes 2007, 8:235-238.
-
(2007)
Pediatr. Diabetes
, vol.8
, pp. 235-238
-
-
Chan, Y.M.1
Laffel, L.M.2
-
48
-
-
36049015306
-
Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function
-
Gurgel L.C., et al. Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function. Diabetes Care 2007, 30:e108.
-
(2007)
Diabetes Care
, vol.30
-
-
Gurgel, L.C.1
-
49
-
-
33846008028
-
Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity
-
Malecki M.T., et al. Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity. Diabetes Care 2007, 30:147-149.
-
(2007)
Diabetes Care
, vol.30
, pp. 147-149
-
-
Malecki, M.T.1
-
50
-
-
44649180550
-
Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide
-
Bremer A.A., et al. Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide. Pediatr. Diabetes 2008, 9:236-239.
-
(2008)
Pediatr. Diabetes
, vol.9
, pp. 236-239
-
-
Bremer, A.A.1
-
51
-
-
40849139200
-
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
-
Koster J.C., et al. The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J. Clin. Endocrinol. Metab. 2008, 93:1054-1061.
-
(2008)
J. Clin. Endocrinol. Metab.
, vol.93
, pp. 1054-1061
-
-
Koster, J.C.1
-
52
-
-
77954442715
-
Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM
-
Mohamadi A., et al. Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM. Pediatr. Diabetes 2010, 11:203-207.
-
(2010)
Pediatr. Diabetes
, vol.11
, pp. 203-207
-
-
Mohamadi, A.1
-
53
-
-
59349107957
-
Case study: transitioning from insulin to glyburide in permanent neonatal diabetes: medical and psychosocial challenges in an 18-year-old male
-
Monaghan M.C., et al. Case study: transitioning from insulin to glyburide in permanent neonatal diabetes: medical and psychosocial challenges in an 18-year-old male. Clin. Diabetes 2009, 27:25-29.
-
(2009)
Clin. Diabetes
, vol.27
, pp. 25-29
-
-
Monaghan, M.C.1
-
54
-
-
77954491071
-
-
Successful sulfonylurea treatment of an insulin-naive neonate with diabetes mellitus due to a KCNJ11 mutation. Pediatr. Diabetes Epub: July 29, 2009, DOI: 10.1111/j.1399-5448.2009.00557.x
-
Wambach, J.A. et al. (2009) Successful sulfonylurea treatment of an insulin-naive neonate with diabetes mellitus due to a KCNJ11 mutation. Pediatr. Diabetes Epub: July 29, 2009, DOI: 10.1111/j.1399-5448.2009.00557.x.
-
(2009)
-
-
Wambach, J.A.1
-
55
-
-
34247166663
-
Sulfonylurea-responsive diabetes in childhood
-
Landau Z., et al. Sulfonylurea-responsive diabetes in childhood. J. Pediatr. 2007, 150:553-555.
-
(2007)
J. Pediatr.
, vol.150
, pp. 553-555
-
-
Landau, Z.1
-
56
-
-
34147167267
-
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers
-
Stanik J., et al. Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers. J. Clin. Endocrinol. Metab. 2007, 92:1276-1282.
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 1276-1282
-
-
Stanik, J.1
-
57
-
-
34347350250
-
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities
-
Rica I., et al. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities. Diabet. Med. 2007, 24:707-713.
-
(2007)
Diabet. Med.
, vol.24
, pp. 707-713
-
-
Rica, I.1
-
58
-
-
35348984863
-
Molecular basis of neonatal diabetes in Japanese patients
-
Suzuki S., et al. Molecular basis of neonatal diabetes in Japanese patients. J. Clin. Endocrinol. Metab. 2007, 92:3979-3985.
-
(2007)
J. Clin. Endocrinol. Metab.
, vol.92
, pp. 3979-3985
-
-
Suzuki, S.1
-
59
-
-
52649099443
-
Diagnosis and treatment of neonatal diabetes: a United States experience
-
Stoy J., et al. Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr. Diabetes 2008, 9:450-459.
-
(2008)
Pediatr. Diabetes
, vol.9
, pp. 450-459
-
-
Stoy, J.1
-
60
-
-
53849146370
-
Familial permanent neonatal diabetes with KCNJ11 mutation and the response to glyburide therapy - a three-year follow-up
-
Begum-Hasan J., et al. Familial permanent neonatal diabetes with KCNJ11 mutation and the response to glyburide therapy - a three-year follow-up. J. Pediatr. Endocrinol. Metab. 2008, 21:895-903.
-
(2008)
J. Pediatr. Endocrinol. Metab.
, vol.21
, pp. 895-903
-
-
Begum-Hasan, J.1
-
61
-
-
66449136276
-
Diabetic retinopathy in permanent neonatal diabetes due to Kir6.2 gene mutations: the results of a minimum 2-year follow-up after the transfer from insulin to sulphonylurea
-
Klupa T., et al. Diabetic retinopathy in permanent neonatal diabetes due to Kir6.2 gene mutations: the results of a minimum 2-year follow-up after the transfer from insulin to sulphonylurea. Diabet. Med. 2009, 26:663-664.
-
(2009)
Diabet. Med.
, vol.26
, pp. 663-664
-
-
Klupa, T.1
-
62
-
-
38949177444
-
Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations
-
Rafiq M., et al. Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations. Diabetes Care 2008, 31:204-209.
-
(2008)
Diabetes Care
, vol.31
, pp. 204-209
-
-
Rafiq, M.1
-
63
-
-
70349575972
-
Assessment and management of hypoglycemia in children and adolescents with diabetes
-
Clarke W., et al. Assessment and management of hypoglycemia in children and adolescents with diabetes. Pediatr. Diabetes 2009, 10(Suppl. 12):134-145.
-
(2009)
Pediatr. Diabetes
, vol.10
, Issue.SUPPL. 12
, pp. 134-145
-
-
Clarke, W.1
-
64
-
-
68149141629
-
Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect
-
Kumaraguru J., et al. Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect. Diabetes Care 2009, 32:1428-1430.
-
(2009)
Diabetes Care
, vol.32
, pp. 1428-1430
-
-
Kumaraguru, J.1
-
65
-
-
61749086774
-
Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes
-
Girard C.A., et al. Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes. J. Clin. Invest. 2009, 119:80-90.
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 80-90
-
-
Girard, C.A.1
-
66
-
-
58749114004
-
Secondary consequences of beta cell inexcitability: identification and prevention in a murine model of K(ATP)-induced neonatal diabetes mellitus
-
Remedi M.S., et al. Secondary consequences of beta cell inexcitability: identification and prevention in a murine model of K(ATP)-induced neonatal diabetes mellitus. Cell Metab. 2009, 9:140-151.
-
(2009)
Cell Metab.
, vol.9
, pp. 140-151
-
-
Remedi, M.S.1
-
67
-
-
33847025257
-
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes
-
Masia R., et al. An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. Diabetes 2007, 56:328-336.
-
(2007)
Diabetes
, vol.56
, pp. 328-336
-
-
Masia, R.1
-
68
-
-
34548751740
-
Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome)
-
Sumnik Z., et al. Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome). Diabet. Med. 2007, 24:1176-1178.
-
(2007)
Diabet. Med.
, vol.24
, pp. 1176-1178
-
-
Sumnik, Z.1
-
69
-
-
58849159585
-
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene
-
Della Manna T., et al. Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene. Arq. Bras. Endocrinol. Metabol. 2008, 52:1350-1355.
-
(2008)
Arq. Bras. Endocrinol. Metabol.
, vol.52
, pp. 1350-1355
-
-
Della Manna, T.1
-
70
-
-
33847363327
-
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene
-
Slingerland A.S., et al. Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene. Diabetologia 2006, 49:2559-2563.
-
(2006)
Diabetologia
, vol.49
, pp. 2559-2563
-
-
Slingerland, A.S.1
-
71
-
-
34548561525
-
Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2
-
Kim M.S., et al. Sulfonylurea therapy in two Korean patients with insulin-treated neonatal diabetes due to heterozygous mutations of the KCNJ11 gene encoding Kir6.2. J. Korean Med. Sci. 2007, 22:616-620.
-
(2007)
J. Korean Med. Sci.
, vol.22
, pp. 616-620
-
-
Kim, M.S.1
-
72
-
-
40049100688
-
Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation
-
Slingerland A.S., et al. Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation. Diabet. Med. 2008, 25:277-281.
-
(2008)
Diabet. Med.
, vol.25
, pp. 277-281
-
-
Slingerland, A.S.1
-
73
-
-
69949118026
-
Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus
-
Ting W.H., et al. Improved diabetic control during oral sulfonylurea treatment in two children with permanent neonatal diabetes mellitus. J. Pediatr. Endocrinol. Metab. 2009, 22:661-667.
-
(2009)
J. Pediatr. Endocrinol. Metab.
, vol.22
, pp. 661-667
-
-
Ting, W.H.1
-
74
-
-
0037306308
-
Physiological and pathophysiological roles of ATP-sensitive K+ channels
-
Seino S., Miki T. Physiological and pathophysiological roles of ATP-sensitive K+ channels. Prog. Biophys. Mol. Biol. 2003, 81:133-176.
-
(2003)
Prog. Biophys. Mol. Biol.
, vol.81
, pp. 133-176
-
-
Seino, S.1
Miki, T.2
-
75
-
-
20644449030
-
Function and distribution of the SUR isoforms and splice variants
-
Shi N.Q., et al. Function and distribution of the SUR isoforms and splice variants. J. Mol. Cell. Cardiol. 2005, 39:51-60.
-
(2005)
J. Mol. Cell. Cardiol.
, vol.39
, pp. 51-60
-
-
Shi, N.Q.1
-
76
-
-
0031886709
-
ATP-sensitive K+ channels in pancreatic, cardiac, and vascular smooth muscle cells
-
Yokoshiki H., et al. ATP-sensitive K+ channels in pancreatic, cardiac, and vascular smooth muscle cells. Am. J. Physiol. Cell Physiol. 1998, 274:C25-C37.
-
(1998)
Am. J. Physiol. Cell Physiol.
, vol.274
-
-
Yokoshiki, H.1
-
77
-
-
0031026364
-
Overlapping distribution of K(ATP) channel-forming Kir6.2 subunit and the sulfonylurea receptor SUR1 in rodent brain
-
Karschin C., et al. Overlapping distribution of K(ATP) channel-forming Kir6.2 subunit and the sulfonylurea receptor SUR1 in rodent brain. FEBS Lett. 1997, 401:59-64.
-
(1997)
FEBS Lett.
, vol.401
, pp. 59-64
-
-
Karschin, C.1
-
78
-
-
33846658399
-
ABCC8 and ABCC9: ABC transporters that regulate K(+) channels
-
Bryan J., et al. ABCC8 and ABCC9: ABC transporters that regulate K(+) channels. Pflugers Arch. 2007, 453:703-718.
-
(2007)
Pflugers Arch.
, vol.453
, pp. 703-718
-
-
Bryan, J.1
-
79
-
-
24144467758
-
Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy
-
Hattersley A.T., Ashcroft F.M. Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 2005, 54:2503-2513.
-
(2005)
Diabetes
, vol.54
, pp. 2503-2513
-
-
Hattersley, A.T.1
Ashcroft, F.M.2
-
80
-
-
35748967277
-
Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11
-
Mlynarski W., et al. Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11. Nat. Clin. Pract. Neurol. 2007, 3:640-645.
-
(2007)
Nat. Clin. Pract. Neurol.
, vol.3
, pp. 640-645
-
-
Mlynarski, W.1
-
81
-
-
34748869665
-
A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain
-
Shimomura K., et al. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology 2007, 69:1342-1349.
-
(2007)
Neurology
, vol.69
, pp. 1342-1349
-
-
Shimomura, K.1
-
82
-
-
14044272246
-
Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology
-
Mackay D.J., et al. Bisulphite sequencing of the transient neonatal diabetes mellitus DMR facilitates a novel diagnostic test but reveals no methylation anomalies in patients of unknown aetiology. Hum. Genet. 2005, 116:255-261.
-
(2005)
Hum. Genet.
, vol.116
, pp. 255-261
-
-
Mackay, D.J.1
-
83
-
-
0033860008
-
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes
-
Temple I.K., et al. Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes. Diabetes 2000, 49:1359-1366.
-
(2000)
Diabetes
, vol.49
, pp. 1359-1366
-
-
Temple, I.K.1
-
84
-
-
0036797965
-
Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases
-
Metz C., et al. Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases. J. Pediatr. 2002, 141:483-489.
-
(2002)
J. Pediatr.
, vol.141
, pp. 483-489
-
-
Metz, C.1
-
85
-
-
0034457490
-
Perspective: postnatal pancreatic beta cell growth
-
Bonner-Weir S. Perspective: postnatal pancreatic beta cell growth. Endocrinology 2000, 141:1926-1929.
-
(2000)
Endocrinology
, vol.141
, pp. 1926-1929
-
-
Bonner-Weir, S.1
-
86
-
-
44749088201
-
Beta-cell replication is the primary mechanism subserving the postnatal expansion of beta-cell mass in humans
-
Meier J.J., et al. Beta-cell replication is the primary mechanism subserving the postnatal expansion of beta-cell mass in humans. Diabetes 2008, 57:1584-1594.
-
(2008)
Diabetes
, vol.57
, pp. 1584-1594
-
-
Meier, J.J.1
-
87
-
-
4043117827
-
Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM
-
Ma D., et al. Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM. J. Clin. Invest. 2004, 114:339-348.
-
(2004)
J. Clin. Invest.
, vol.114
, pp. 339-348
-
-
Ma, D.1
-
88
-
-
3042749597
-
An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission
-
Shield J.P., et al. An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission. Arch. Dis. Child Fetal Neonatal Ed. 2004, 89:F341-F343.
-
(2004)
Arch. Dis. Child Fetal Neonatal Ed.
, vol.89
-
-
Shield, J.P.1
-
89
-
-
4644256595
-
Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon
-
Valerio G., et al. Beta-cell dysfunction in classic transient neonatal diabetes is characterized by impaired insulin response to glucose but normal response to glucagon. Diabetes Care 2004, 27:2405-2408.
-
(2004)
Diabetes Care
, vol.27
, pp. 2405-2408
-
-
Valerio, G.1
-
90
-
-
64549147599
-
Long-standing sulfonylurea therapy after pubertal relapse of neonatal diabetes in a case of uniparental paternal isodisomy of chromosome 6
-
Schimmel U. Long-standing sulfonylurea therapy after pubertal relapse of neonatal diabetes in a case of uniparental paternal isodisomy of chromosome 6. Diabetes Care 2009, 32:e9.
-
(2009)
Diabetes Care
, vol.32
-
-
Schimmel, U.1
-
91
-
-
35148820198
-
Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period
-
Patch A.M., et al. Mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period. Diabetes Obes. Metab. 2007, 9(Suppl. 2):28-39.
-
(2007)
Diabetes Obes. Metab.
, vol.9
, Issue.SUPPL. 2
, pp. 28-39
-
-
Patch, A.M.1
-
92
-
-
44649133877
-
Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation
-
D'Amato E., et al. Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation. Diabet. Med. 2008, 25:651-656.
-
(2008)
Diabet. Med.
, vol.25
, pp. 651-656
-
-
D'Amato, E.1
-
93
-
-
68949220477
-
Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype
-
Klupa T., et al. Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype. Clin. Endocrinol. (Oxf.) 2009, 71:358-362.
-
(2009)
Clin. Endocrinol. (Oxf.)
, vol.71
, pp. 358-362
-
-
Klupa, T.1
-
94
-
-
45749104374
-
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
-
Colombo C., et al. Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. J. Clin. Invest. 2008, 118:2148-2156.
-
(2008)
J. Clin. Invest.
, vol.118
, pp. 2148-2156
-
-
Colombo, C.1
-
95
-
-
42449134450
-
Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood
-
Edghill E.L., et al. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. Diabetes 2008, 57:1034-1042.
-
(2008)
Diabetes
, vol.57
, pp. 1034-1042
-
-
Edghill, E.L.1
-
96
-
-
42449127920
-
Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes
-
Molven A., et al. Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. Diabetes 2008, 57:1131-1135.
-
(2008)
Diabetes
, vol.57
, pp. 1131-1135
-
-
Molven, A.1
-
97
-
-
42449102605
-
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group
-
Polak M., et al. Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group. Diabetes 2008, 57:1115-1119.
-
(2008)
Diabetes
, vol.57
, pp. 1115-1119
-
-
Polak, M.1
-
98
-
-
64549146740
-
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies
-
Bonfanti R., et al. Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies. Diabetes Care 2009, 32:123-125.
-
(2009)
Diabetes Care
, vol.32
, pp. 123-125
-
-
Bonfanti, R.1
-
99
-
-
77950348445
-
Insulin gene mutations resulting in a MODY phenotype: marked differences in clinical presentation, metabolic status and pathogenic effect through ER retention
-
Meur G., et al. Insulin gene mutations resulting in a MODY phenotype: marked differences in clinical presentation, metabolic status and pathogenic effect through ER retention. Diabetes 2009, 59:653-661.
-
(2009)
Diabetes
, vol.59
, pp. 653-661
-
-
Meur, G.1
-
100
-
-
70349490955
-
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes
-
Rubio-Cabezas O., et al. Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. Diabet. Med. 2009, 26:1070-1074.
-
(2009)
Diabet. Med.
, vol.26
, pp. 1070-1074
-
-
Rubio-Cabezas, O.1
-
101
-
-
77649262569
-
Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis
-
Garin I., et al. Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:3105-3110.
-
(2010)
Proc. Natl. Acad. Sci. U. S. A.
, vol.107
, pp. 3105-3110
-
-
Garin, I.1
-
102
-
-
73949154312
-
Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted
-
Park S.Y., et al. Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted. Biochem. Biophys. Res. Commun. 2010, 391:1449-1454.
-
(2010)
Biochem. Biophys. Res. Commun.
, vol.391
, pp. 1449-1454
-
-
Park, S.Y.1
-
103
-
-
77349112160
-
In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes
-
Rajan S., et al. In vitro processing and secretion of mutant insulin proteins that cause permanent neonatal diabetes. Am. J. Physiol. Endocrinol. Metab. 2010, 298:E403-E410.
-
(2010)
Am. J. Physiol. Endocrinol. Metab.
, vol.298
-
-
Rajan, S.1
-
104
-
-
0032918044
-
A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse
-
Wang J., et al. A mutation in the insulin 2 gene induces diabetes with severe pancreatic beta-cell dysfunction in the Mody mouse. J. Clin. Invest. 1999, 103:27-37.
-
(1999)
J. Clin. Invest.
, vol.103
, pp. 27-37
-
-
Wang, J.1
-
105
-
-
34248187585
-
Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice
-
Herbach N., et al. Dominant-negative effects of a novel mutated Ins2 allele causes early-onset diabetes and severe beta-cell loss in Munich Ins2C95S mutant mice. Diabetes 2007, 56:1268-1276.
-
(2007)
Diabetes
, vol.56
, pp. 1268-1276
-
-
Herbach, N.1
-
106
-
-
70350280193
-
A brief perspective on insulin production
-
Steiner D.F., et al. A brief perspective on insulin production. Diabetes Obes. Metab. 2009, 11(Suppl. 4):189-196.
-
(2009)
Diabetes Obes. Metab.
, vol.11
, Issue.SUPPL. 4
, pp. 189-196
-
-
Steiner, D.F.1
|