ライフサイエンスコーパス: hyperinsulinism

1 channels previously identified in congenital hyperinsulinism.

2 d to loss of channel function and congenital hyperinsulinism.

3 represent a novel cause of focal congenital hyperinsulinism.

4 sociated with dominant, diazoxide-responsive hyperinsulinism.

5 ons of SUR1 can cause diazoxide-unresponsive hyperinsulinism.

6 .2 mutation, G156R, identified in congenital hyperinsulinism.

7 he most common and severe form of congenital hyperinsulinism.

8 icient to cause loss of channel function and hyperinsulinism.

9 Kir6.2, respectively, results in congenital hyperinsulinism.

10 as a potential therapeutic agent for K(ATP) hyperinsulinism.

11 eding efficiency, hyperleptinaemia, and mild hyperinsulinism.

12 ss of channel function as seen in congenital hyperinsulinism.

13 the channel, is a major cause of congenital hyperinsulinism.

14 187D, identified in patients with congenital hyperinsulinism.

15 potassium (K(ATP)) channels, cause familial hyperinsulinism.

16 annel activity can give rise to a maintained hyperinsulinism.

17 plication that occurs in children with focal hyperinsulinism.

18 siological and molecular aspects of familial hyperinsulinism.

19 venous dextrose in the patients with diffuse hyperinsulinism.

20 human FOXA2 as a candidate gene for familial hyperinsulinism.

21 nels), which may be mutated in patients with hyperinsulinism.

22 These mutations lead to familial hyperinsulinism.

23 defect in a family with dominantly inherited hyperinsulinism affecting five individuals in three gene

24 ex congenital syndrome with hypopituitarism, hyperinsulinism and endoderm-derived organ abnormalities

25 We hypothesized that this syndrome of hyperinsulinism and hyperammonemia was caused by excessi

26 serve as a link in the triad of obesity and hyperinsulinism and hypertension.

27 eonate which probably explains the transient hyperinsulinism and hypoglycaemia in some IUGR infants.

28 beta-oxidation that has been associated with hyperinsulinism and raises interesting questions about t

29 loss of KATP channel function and congenital hyperinsulinism and support the importance of phospholip

30 The hypoglycemia was confirmed to be due to hyperinsulinism, and all three patients required diazoxi

31 , myotonia, malignant hyperthermia, familial hyperinsulinism, and Bartter syndrome have all been link

32 Because obesity and hyperinsulinism are also frequently associated with hype

33 Obesity and hyperinsulinism are known to be major stimuli of leptin

34 frequently mutated genes linked to familial hyperinsulinism, as novel Foxa2 targets in islets.

35 he elucidation of the GDH-linked syndrome of hyperinsulinism associated with elevated serum ammonia l

36 sm of insulin dysregulation in children with hyperinsulinism associated with inactivating mutations o

37 Here we report that two hyperinsulinism-associated SUR1 missense mutations, R74W

38 tudies indicate that SCHAD deficiency causes hyperinsulinism by activation of GDH via loss of inhibit

39 ish populations, accounting for 14% of focal hyperinsulinism cases and 32% of subjects with HADH muta

40 ulfonylureas may be used to treat congenital hyperinsulinism caused by certain K(ATP) channel traffic

41 Congenital hyperinsulinism causes persistent hypoglycemia in neonat

42 A new form of congenital hyperinsulinism characterized by hypoglycemia and hypera

43 Congenital hyperinsulinism (CHI) is a disease characterized by pers

44 Congenital hyperinsulinism (CHI) is a disorder of unregulated insul

45 Congenital hyperinsulinism (CHI) is a multifaceted disease and cont

46 Congenital Hyperinsulinism (CHI) is a rare heterogeneous disease ch

47 Congenital hyperinsulinism (CHI) is most commonly caused by mutatio

48 Congenital hyperinsulinism (CHI) may be due to diffuse or focal pan

49 , sulfonylurea receptor 1, causes congenital hyperinsulinism (CHI), a neonatal disease characterized

50 ns lead to the clinical condition congenital hyperinsulinism (CHI).

51 ta-cell function characterized by persistent hyperinsulinism despite severe hypoglycemia.

52 sembled that seen in children with recessive hyperinsulinism due to two common SUR1 mutations, g3992-

53 Exercise-induced hyperinsulinism (EIHI) is an autosomal dominant disorder

54 dehydrogenase (GDH) in a form of congenital hyperinsulinism (GDH-HI) is providing a model for basal

55 he SUR1 subunit are associated with familial hyperinsulinism (HI) (MIM:256450), an inherited disorder

56 Familial hyperinsulinism (HI) is a disorder characterized by dysr

57 Familial hyperinsulinism (HI) is a disorder of pancreatic beta-ce

58 Usher syndrome type 1C (USH1C) and familial hyperinsulinism (HI) loci have been assigned to chromoso

59 is form of linkage-mapping, using congenital hyperinsulinism (HI), an autosomal recessive disease, wh

60 erlie human neonatal diabetes and congenital hyperinsulinism (HI), respectively.

61 nction mutations of this enzyme that cause a hyperinsulinism-hyperammonemia syndrome (GDH-HI) and sen

62 e normal level in the patients with sporadic hyperinsulinism-hyperammonemia syndrome and half the nor

63 The novel hyperinsulinism-hyperammonemia syndrome indicates that G

64 The hyperinsulinism-hyperammonemia syndrome is caused by mut

65 novel hypoglycemic disorder in children, the hyperinsulinism-hyperammonemia syndrome, which is caused

66 lasts from eight unrelated children with the hyperinsulinism-hyperammonemia syndrome: six with sporad

67 Children with the hyperinsulinism/hyperammonemia (HI/HA) syndrome have sym

68 The recently discovered hyperinsulinism/hyperammonemia disorder showed that the

69 Kinetic analysis of a hyperinsulinism/hyperammonemia mutant strongly suggests

70 n GDH that abrogate GTP inhibition cause the hyperinsulinism/hyperammonemia syndrome (HHS), resulting

71 s mutations in this antenna region cause the hyperinsulinism/hyperammonemia syndrome by decreasing GD

72 ported to cause hypoglycemia attributable to hyperinsulinism in a limited number of families.

73 sible for the most common form of congenital hyperinsulinism in children.

74 sulin secretion contributes significantly to hyperinsulinism in GB subjects.

75 hannel genes KCNJ11 and ABCC8 cause neonatal hyperinsulinism in humans.

76 Congenital hyperinsulinism in infancy (CHI) is characterized by unr

77 Diffuse congenital hyperinsulinism in infancy (CHI-D) arises from mutations

78 450), an inherited disorder characterized by hyperinsulinism in the neonate.

79 These results indicate that hyperinsulinism in this family is caused by a SUR1 mutat

80 ate development of diabetes in patients with hyperinsulinism independently of subtotal pancreatectomy

81 Congenital hyperinsulinism is a condition of dysregulated insulin s

82 Congenital hyperinsulinism is a disorder of pancreatic beta-cell fu

83 l KATP channel activity seen in this form of hyperinsulinism is a failure of KATP channels to traffic

84 els cause the most severe form of congenital hyperinsulinism (KATPHI).

85 port three children with de novo glucokinase hyperinsulinism mutations who displayed a spectrum of cl

86 ugh free fatty acids, may play a role in the hyperinsulinism observed in AA children.

87 Congenital hyperinsulinism of infancy (CHI) can be caused by inacti

88 Hyperinsulinism of infancy (HI) is a congenital defect i

89 Children with focal hyperinsulinism of infancy display a dramatic, non-neopl

90 ca cells and the pathophysiologic effects of hyperinsulinism on ovarian function in obesity.

91 of increased diabetes risk in dominant KATP hyperinsulinism, only 4 of 29 adults had diabetes.

92 sively inherited diffuse forms of congenital hyperinsulinism or, when associated with loss of heteroz

93 Infants with congenital hyperinsulinism owing to inactivating mutations in the K

94 ssion and function in a subset of congenital hyperinsulinism patients.

95 channel function phenotype in the congenital hyperinsulinism patients.

96 from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafn

97 in patients with the severe form of familial hyperinsulinism, profoundly alter the rate of K(IR)6.2 a

98 hlight distinctive features of dominant KATP hyperinsulinism relative to the more common and more sev

99 iazoxide varies with genotype in glucokinase hyperinsulinism resulting in hypoglycemia, which can be

100 Recessive mutations of these genes cause hyperinsulinism that is unresponsive to treatment with d

101 recipient diabetic rat, with resulting local hyperinsulinism that leads to the development of preneop

102 In the patients with diffuse hyperinsulinism, the acute insulin response to intraveno

103 However, unlike other children with hyperinsulinism, this patient had a persistently elevate

104 e compared among eight patients with diffuse hyperinsulinism (two mutations), six carrier parents, an

105 The patient's hyperinsulinism was easily controlled with diazoxide and

106 However, hyperinsulinism was evident in adult mice as (i) a dispr

107 h reduced activity are a cause of congenital hyperinsulinism, whereas hyperactive channels are a caus

108 ion are typically associated with congenital hyperinsulinism, whereas those that increase channel fun

109 se studies reveal the causal pathway linking hyperinsulinism with ovarian hyperandrogenism and the in