ライフサイエンスコーパス: Noonan syndrome

1 defects differs in SOS1 mutation-associated Noonan syndrome.

2 s SHP-2, cause approximately 50% of cases of Noonan syndrome.

3 al mechanism for congenital heart defects in Noonan syndrome.

4 s have been found in childhood leukemias and Noonan syndrome.

5 115150), which has overlapping features with Noonan syndrome.

6 een linked so far only to the development of Noonan syndrome.

7 s are more active than those associated with Noonan syndrome.

8 hypertrophy in a mouse model of RIT1 mutant Noonan syndrome.

9 linked to a recessive phenotype evocative of Noonan syndrome.

10 mia, and in the germline of individuals with Noonan syndrome.

11 er, leukemia, and the developmental disorder Noonan syndrome.

12 istory of diseases, specifically focusing on Noonan syndrome.

13 that promote complex formation are found in Noonan syndrome.

14 el, which resulted in a phenotype resembling Noonan syndrome.

15 of separating different genetic subtypes in Noonan syndrome.

16 orders with intellectual disability, such as Noonan syndrome.

17 sm of the Ras mutant-mediated development of Noonan syndrome.

18 g pathway, are found in 50% of patients with Noonan syndrome.

19 rs with increased risk of malignancy such as Noonan syndrome.

20 tation (RAF1(S259A)) that is associated with Noonan syndrome.

21 the Y62D and Y63C substitutions recurring in Noonan syndrome.

22 nt work also highlights PTPN11 and NOTCH1 in Noonan syndrome.

23 2-related cardiomyopathy, and 1 patient with Noonan syndrome.

24 familial primary pulmonary hypertension, and Noonan syndromes.

25 , and in one individual, features resembling Noonan syndrome, a condition caused by dysregulated RAS

26 Some patients with Noonan syndrome, a congenital disorder predominantly cau

27 , C441Y, and E433K) that are associated with Noonan syndrome, a disease caused by hyperactive Ras sig

28 fied, but the contribution of Ras mutants to Noonan syndrome, a genetic disorder that prevents normal

29 -of-function mutations in SHP-2/PTPN11 cause Noonan syndrome, a human developmental disorder.

30 -of-function (GOF) mutations are observed in Noonan syndrome, a type of RASopathy associated with mul

31 Mutations that cause Noonan syndrome alter genes encoding proteins with roles

32 acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual wi

33 SHP-2) that is mutated and hyperactivated in Noonan syndrome and a significant portion of childhood l

34 tains two Src homology 2 (SH2) domains-cause Noonan syndrome and account for more than 50% of the cas

35 Associations between Noonan syndrome and an increased risk of some malignanci

36 teins have emerged as an etiologic factor in Noonan syndrome and cancer.

37 D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome.

38 r the types and effects of PTPN11 defects in Noonan syndrome and compare them to the related, but spe

39 5%) had a lymphatic conduction disorder with Noonan syndrome and congenital heart disease, and 1 (12.

40 ndings identify the second recessive form of Noonan syndrome and document pleiotropic consequences of

41 get for controlling leukaemic progression in Noonan syndrome and for improving stem cell transplantat

42 introduced SHP-2 encoding the most prevalent Noonan syndrome and JMML mutations into Xenopus embryos.

43 We report here that individuals with Noonan syndrome and juvenile myelomonocytic leukemia (JM

44 Our results clarify the relationship between Noonan syndrome and leukemia and show that a single Ptpn

45 mental effects, and the relationship between Noonan syndrome and leukemia, are unclear.

46 ions of PTPN11 cause the congenital disorder Noonan syndrome and pathologically promote human leukemi

47 SHOC2 is mutated in Noonan syndrome and plays a key role in the activation o

48 ein coding sequence of 9 genes implicated in Noonan syndrome and related conditions (PTPN11, SOS1, HR

49 the basis of lymphatic abnormalities seen in Noonan syndrome and related diseases.

50 rom being the first studies of treatment for Noonan syndrome and related disorders in a mammalian sys

51 y reminiscent of abnormal lymphatics seen in Noonan syndrome and similar "RASopathies." Inhibition of

52 kinase pathway proteins are responsible for Noonan syndrome and the KRAS mutation phenotype.

53 f KRAS missense mutation as a minor cause of Noonan syndrome and the pathogenetic mechanisms of those

54 s catalytic activity have been identified in Noonan syndrome and various childhood leukemias.

55 Williams, Smith-Magenis, 22q11 deletion, or Noonan syndromes and between individuals with different

56 l disorders that includes Costello syndrome, Noonan syndrome, and cardiofaciocutaneous syndrome.

57 aniofacial abnormalities similar to those in Noonan syndrome, and myeloproliferative disease.

58 nts with Danon disease, Friedreich's ataxia, Noonan syndrome, and PRKAG2 cardiomyopathy were identifi

59 s of the autosomal dominant genetic disorder Noonan syndrome, and somatic Shp2 mutations are found in

60 teins mutated in the developmental RASopathy Noonan syndrome, and, here, we report that activated M-R

61 unction changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity.

62 Mice carrying the Noonan syndrome-associated gain-of-function SHP2 mutatio

63 We generated mice expressing the Noonan syndrome-associated mutant D61G.

64 Noonan syndrome-associated PTPN11 mutations are gain-of-

65 Noonan syndrome-associated SOS1 mutations are hypermorph

66 ects can be rescued by constitutively active/Noonan-syndrome-associated forms of SHP-2.

67 proving stem cell transplantation therapy in Noonan-syndrome-associated leukaemias.

68 romes are associated with vPS, most commonly Noonan syndrome, but the cause is unknown in most cases.

69 KRAS mutations account for <5% of cases of Noonan syndrome, but the gene(s) responsible for the rem

70 Congenital heart abnormalities are common in Noonan syndrome, but the signaling pathway(s) linking ga

71 cur in approximately 50% of individuals with Noonan syndrome, but their molecular, cellular and devel

72 nction mutation evokes all major features of Noonan syndrome by acting on multiple developmental line

73 d KRAS mutations causes approximately 60% of Noonan syndrome cases, and PTPN11 mutations cause 90% of

74 phosphatase SHP2, cause approximately 50% of Noonan syndrome cases.

75 had been found to account for nearly 50% of Noonan syndrome cases.

76 ng the SHP2 phosphatase) are associated with Noonan syndrome, childhood leukemias, and sporadic solid

77 After PTPN11 was identified as a Noonan syndrome disease gene, additional discoveries hav

78 tention was also discovered in the RASopathy Noonan syndrome, due to intronic mutations disrupting sp

79 mutation of PTPN11 previously identified in Noonan syndrome families results in a gain-of-function o

80 About 50% of patients with Noonan syndrome have germ-line PTPN11 gain of function m

81 18% prevalence of HCM among individuals with Noonan syndrome in general.

82 ASopathy phenotypic spectrum, reminiscent of Noonan syndrome in some subjects.

83 Noonan syndrome is a clinical diagnosis with multiple ge

84 Noonan syndrome is a common human autosomal dominant bir

85 Noonan syndrome is a genetic multisystem disorder charac

86 Noonan syndrome is a relatively common, genetically hete

87 Noonan syndrome is an autosomal dominant disease charact

88 Noonan syndrome is characterized by proportionate short

89 Noonan syndrome is one of the most common causes of huma

90 Noonan syndrome (MIM 163950) is an autosomal dominant di

91 Noonan syndrome (MIM 163950) is characterized by short s

92 RK MAP kinase (MAPK) cascade activation, and Noonan syndrome mutants enhance ERK activation ex vivo a

93 activation in valve primordia expressing the Noonan syndrome mutation Q79R-Shp2.

94 rsely, transgenic expression of the Shp2 GOF Noonan syndrome mutation resulted in elevated OPC number

95 Paradoxically, Noonan syndrome mutations increase SHP2 phosphatase acti

96 In Noonan syndrome (NS) 30-50% of subjects show cognitive d

97 Noonan syndrome (NS) and NS with multiple lentigines (NS

98 use 2 disorders with multiple organ defects: Noonan syndrome (NS) and NS with multiple lentigines (NS

99 Some cases of Noonan syndrome (NS) are associated with gain-of-functio

100 Neurofibromatosis type 1 (NF1) and Noonan syndrome (NS) are neurogenetic syndromes caused b

101 by PTPN11, cause a significant proportion of Noonan syndrome (NS) cases, typically presenting with bo

102 Noonan syndrome (NS) is a developmental disorder charact

103 Noonan syndrome (NS) is a multisystemic developmental di

104 Noonan syndrome (NS) is a rare developmental disorder an

105 Noonan syndrome (NS) is a relatively common genetic diso

106 Noonan syndrome (NS) is among the most common Mendelian

107 Noonan syndrome (NS) is an autosomal dominant congenital

108 Noonan syndrome (NS) is an autosomal dominant disorder c

109 Noonan syndrome (NS) is an autosomal dominant disorder c

110 Noonan syndrome (NS) is an autosomal dominant disorder t

111 Noonan syndrome (NS) is an autosomal dominant genetic di

112 Noonan syndrome (NS) is an autosomal dominant genetic di

113 Noonan syndrome (NS) is caused by mutations in RAS/ERK p

114 Noonan syndrome (NS) is characterized by distinctive cra

115 Noonan syndrome (NS) is one of the most frequent genetic

116 Noonan syndrome (NS) is the most common nonchromosomal g

117 on of the tyrosine phosphatase SHP2 found in Noonan syndrome (NS) led to an unsuspected insulin resis

118 More than 90% of individuals with Noonan syndrome (NS) with mutations clustered in the CR2

119 Mutations in PTPN11 cause Noonan syndrome (NS), a developmental disorder character

120 mline PTPN11 mutations underlie about 50% of Noonan syndrome (NS), a developmental disorder that is a

121 growth factors, and its upregulation causes Noonan syndrome (NS), a developmental disorder whose maj

122 Noonan syndrome (NS), a genetic disease caused in half o

123 ubfamily members are occasionally mutated in Noonan syndrome (NS), a RASopathy characterized by the d

124 e protein tyrosine phosphatase SHP-2, causes Noonan syndrome (NS), an autosomal dominant disorder wit

125 rm-line and somatic RIT1 mutations can cause Noonan syndrome (NS), and drive proliferation of lung ad

126 ed with the developmental RASopathy disorder Noonan syndrome (NS), at 1.5-1.6 angstrom resolution.

127 Like the more common Noonan syndrome (NS), LS is caused by germ line missense

128 Noonan syndrome (NS), the most common single-gene cause

129 rotein phosphatase encoded by PTPN11, causes Noonan syndrome (NS), which is characterized in part by

130 further applied this methodology to profile Noonan Syndrome (NS)-derived SOS1 mutants.

131 MRAS was identified recently as a novel Noonan syndrome (NS)-susceptibility gene.

132 line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS).

133 proliferative neoplasm (MPN) associated with Noonan syndrome (NS).

134 sis was identified in 22 (18%); 17 (14%) had Noonan syndrome or a related disorder.

135 st, single-gene test, or multigene panel for Noonan syndrome, or (2) untargeted genetic test with who

136 and cautions that DNA-damaging treatments in Noonan syndrome patients with germ-line Ptpn11 GOF mutat

137 syndrome, a RASopathy clinically overlapping Noonan syndrome, promoting N-myristoylation and constitu

138 he discovery of the first gene implicated in Noonan syndrome, PTPN11, the last tier of the MAPK casca

139 kinetic and pulldown analyses, we show that Noonan syndrome Ras mutants I24N, T50I, V152G, and D153V

140 In contrast, other Noonan syndrome Ras mutants-V14I, T58I, and G60E-populat

141 ts identify SOS1 mutants as a major cause of Noonan syndrome, representing the first example of activ

142 Interestingly, Noonan syndrome SHP2 mutants are constitutively active,

143 ation of developmental abnormalities seen in Noonan syndrome spectrum is, in large part, due to hyper

144 Activating mutations in PTPN11 cause Noonan syndrome, the most common nonchromosomal disorder

145 henotype with features partially overlapping Noonan syndrome, the most common RASopathy.

146 Noonan syndrome, the most common single-gene cause of co

147 in SHP2 cause clinically similar LEOPARD and Noonan syndromes, two of several autosomal-dominant cond

148 -function SHP2 mutations are associated with Noonan syndrome, various kinds of leukemias, and solid t

149 ermline activating mutations in PTPN11 cause Noonan syndrome, whereas somatic PTPN11 mutations cause

150 wn to cause the autosomal dominant condition Noonan syndrome, which includes congenital heart disease

151 This was not seen for 22q11.2 deletion and Noonan syndromes, which are not associated with a smilin

152 and an underlying disease, such as Apert and Noonan syndrome, while one patient had severe IgE-relate

153 to their children as the germline RASopathy Noonan syndrome with lentigines.

154 ditary variants in Shoc2 are responsible for Noonan Syndrome with Loose anagen Hair (NSLH).

155 Noonan syndrome with multiple lentigines (NSML) is a rar

156 Noonan Syndrome with Multiple Lentigines (NSML) patients

157 (PTP) SHP2, are implicated in CHD and cause Noonan syndrome with multiple lentigines (NSML), a condi

158 th, sensorineural Deafness; LS), also called Noonan syndrome with multiple lentigines (NSML), is a ra

159 ldren and adults with a genetic diagnosis of Noonan syndrome with multiple lentigines and hypertrophi

160 The cohort comprised 42 patients with Noonan syndrome with multiple lentigines and hypertrophi

161 ation and clinical outcomes in patients with Noonan syndrome with multiple lentigines and hypertrophi

162 tive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophi

163 ase signalling diseases, which also includes Noonan syndrome, with pleomorphic effects on several tis

164 e, we report that 18 of 231 individuals with Noonan syndrome without known mutations (corresponding t

165 (RAS-GEF), in approximately 20% of cases of Noonan syndrome without PTPN11 mutation.