ライフサイエンスコーパス: hyperinsulinism

1 These mutations lead to familial hyperinsulinism.

2 ection and localization of a focal lesion of hyperinsulinism.

3 children seen in the rare disease congenital hyperinsulinism.

4 Patient data confirm the absence of hyperinsulinism.

5 ts insulin secretion in both HI and acquired hyperinsulinism.

6 ive and innovative strategy for treatment of hyperinsulinism.

7 eby causing insulin secretion and congenital hyperinsulinism.

8 discover new molecular causes of congenital hyperinsulinism.

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

10 plication that occurs in children with focal hyperinsulinism.

11 nd function: the focal variant of congenital hyperinsulinism.

12 channels previously identified in congenital hyperinsulinism.

13 d to loss of channel function and congenital hyperinsulinism.

14 represent a novel cause of focal congenital hyperinsulinism.

15 sociated with dominant, diazoxide-responsive hyperinsulinism.

16 ons of SUR1 can cause diazoxide-unresponsive hyperinsulinism.

17 .2 mutation, G156R, identified in congenital hyperinsulinism.

18 etween focal and diffuse forms of congenital hyperinsulinism.

19 he most common and severe form of congenital hyperinsulinism.

20 icient to cause loss of channel function and hyperinsulinism.

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

22 eding efficiency, hyperleptinaemia, and mild hyperinsulinism.

23 ss of channel function as seen in congenital hyperinsulinism.

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

25 187D, identified in patients with congenital hyperinsulinism.

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

27 annel activity can give rise to a maintained hyperinsulinism.

28 cell surface expression and cause congenital hyperinsulinism.

29 ereas increased K(D) values cause congenital hyperinsulinism.

30 siological and molecular aspects of familial hyperinsulinism.

31 venous dextrose in the patients with diffuse hyperinsulinism.

32 human FOXA2 as a candidate gene for familial hyperinsulinism.

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

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

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

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

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

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

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

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

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

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

43 Because obesity and hyperinsulinism are also frequently associated with hype

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

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

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

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

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

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

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

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

52 Congenital hyperinsulinism caused by loss of ATP-sensitive potassiu

53 Congenital hyperinsulinism causes persistent hypoglycemia in neonat

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

55 nnel trafficking defects underlie congenital hyperinsulinism (CHI) cases unresponsive to the K(ATP) c

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

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

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

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

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

61 insulinomas and focal lesions in congenital hyperinsulinism (CHI) is surgery.

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

63 curative intent can be offered to congenital hyperinsulinism (CHI) patients, provided that the lesion

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

65 ility and secretion, resulting in congenital hyperinsulinism (CHI), whereas gain-of-function mutation

66 ulin hypersecretion, resulting in congenital hyperinsulinism (CHI).

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

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

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

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

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

72 reat nesidioblastosis and diffuse congenital hyperinsulinism has varying efficacy and causes signific

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

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

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

76 Congenital hyperinsulinism (HI) is a genetic disorder in which panc

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

78 re form of diazoxide-unresponsive congenital hyperinsulinism (HI) require a pancreatectomy.

79 Congenital hyperinsulinism (HI), a beta cell disorder most commonly

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

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

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

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

84 The novel hyperinsulinism-hyperammonemia syndrome indicates that G

85 The hyperinsulinism-hyperammonemia syndrome is caused by mut

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

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

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

89 s of the GDH specific role in breast cancer, hyperinsulinism/hyperammonemia (HI/HA) syndrome, and neu

90 The recently discovered hyperinsulinism/hyperammonemia disorder showed that the

91 Kinetic analysis of a hyperinsulinism/hyperammonemia mutant strongly suggests

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

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

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

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

96 sulin secretion contributes significantly to hyperinsulinism in GB subjects.

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

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

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

100 ntiation might cause disease progression and hyperinsulinism in INS, identifying major pathways worth

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

102 e mice do not show hyperactive beta cells or hyperinsulinism in the setting of normal intrinsic beta

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

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

105 Congenital hyperinsulinism is a condition of dysregulated insulin s

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

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

108 Congenital hyperinsulinism is characterized by persistent hypoglyce

109 insulinomas and focal lesions in congenital hyperinsulinism is invasive and carries major risks of m

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

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

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

113 Congenital hyperinsulinism of infancy (CHI) can be caused by a defi

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

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

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

117 Parkinson's disease, brain tumors, and focal hyperinsulinism of infancy.

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

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

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

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

122 new SUR1 missense mutations in TMD0/L0 from hyperinsulinism patients unresponsive to diazoxide and i

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

124 channel function phenotype in the congenital hyperinsulinism patients.

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

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

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

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

129 ated pancreatic islets from a mouse model of hyperinsulinism, Sur1-/- mice, and in islets from an inf

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

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

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

133 flux in pancreatic beta cells and consequent hyperinsulinism, this hypoglycemia mechanism is undemons

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

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

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

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

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

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

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