ライフサイエンスコーパス: Noonan syndrome

1 orders with intellectual disability, such as Noonan syndrome.

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

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

4 the Y62D and Y63C substitutions recurring in Noonan syndrome.

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

6 defects differs in SOS1 mutation-associated Noonan syndrome.

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

8 al mechanism for congenital heart defects in Noonan syndrome.

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

10 115150), which has overlapping features with Noonan syndrome.

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

12 familial primary pulmonary hypertension, and Noonan syndromes.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

46 Noonan syndrome-associated SOS1 mutations are hypermorph

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

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

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

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

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

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

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

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

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

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

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

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

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

60 18% prevalence of HCM among individuals with Noonan syndrome in general.

61 Noonan syndrome is a clinical diagnosis with multiple ge

62 Noonan syndrome is a common human autosomal dominant bir

63 Noonan syndrome is a genetic multisystem disorder charac

64 Noonan syndrome is a relatively common, genetically hete

65 Noonan syndrome is an autosomal dominant disease charact

66 Noonan syndrome is characterized by proportionate short

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

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

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

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

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

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

73 Paradoxically, Noonan syndrome mutations increase SHP2 phosphatase acti

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

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

76 Noonan syndrome (NS) is a developmental disorder charact

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

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

79 Noonan syndrome (NS) is an autosomal dominant congenital

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

100 Interestingly, Noonan syndrome SHP2 mutants are constitutively active,

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

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

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

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

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

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

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

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

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

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

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

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

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