ライフサイエンスコーパス: PDGFRB

1 cally distinct genetic condition caused by a PDGFRB gain-of-function mutation that is associated with

2 iscovered that differential methylation of a PDGFRB-associated enhancer confers specific sensitivity

3 emic cells expressing ABL1, ABL2, CSF1R, and PDGFRB fusions were sensitive in vitro to dasatinib, EPO

4 ass fusions involving ABL1, ABL2, CSF1R, and PDGFRB that phenocopy BCR-ABL1 and alterations of CRLF2,

5 le ABL-class fusions (ABL1, ABL2, CSF1R, and PDGFRB) in 14.1%, EPOR rearrangements or JAK2 fusions in

6 Expression of ABL1, ABL2, CSF1R, JAK2, and PDGFRB fusions resulted in cytokine-independent prolifer

7 eosinophilic MPNs associated with PDGFRA and PDGFRB fusion genes are responsive to imatinib.

8 Both PDGF receptor genes (PDGFRA and PDGFRB) also showed no disease associations.

9 d growth factor receptor A and B (PDGFRA and PDGFRB) tyrosine kinases.

10 sion of total and activated KIT, PDGFRA, and PDGFRB were assessed using immunohistochemistry and immu

11 The natural history of PDGFRA- and PDGFRB-rearranged neoplasms has been dramatically altere

12 mutually exclusive PDGFRbeta (also known as PDGFRB) upregulation or N-RAS (also known as NRAS) mutat

13 o known vascular and stromal markers such as PDGFRB, we observed stromal expression of PTK6 and TNS1

14 s platelet-derived growth factor receptor B (PDGFRB) signaling as part of a core response to divergen

15 latelet-derived growth factor receptor beta (PDGFRB) in all 11 affected individuals with familial IM,

16 latelet derived growth factor receptor beta (PDGFRB) messenger RNA and protein, enhanced proliferatio

17 latelet-derived growth factor receptor beta (PDGFRB) to the coiled-coil domains of a novel partner pr

18 latelet-derived growth factor receptor beta (PDGFRB), which encodes a receptor tyrosine kinase.

19 Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to

20 We report 15 EBF1-PDGFRB-positive patients from childhood ALL treatment tr

21 se findings have prompted screening for EBF1-PDGFRB in patients entered onto the current UKALL 2011 t

22 Two UKALL 2011 patients, positive for EBF1-PDGFRB, received imatinib; 1 died 6 months after a match

23 Prevalence of EBF1-PDGFRB fusions in this group highlights the importance o

24 There are reports of EBF1-PDGFRB-positive patients who are refractory to conventio

25 ce of PDGFRB gene fusions, particularly EBF1-PDGFRB, in almost one third of B-other ALL cases.

26 The EBF1-PDGFRB gene fusion accounts for <1% of B-cell precursor

27 3;p13) translocation associated with an ETV6-PDGFRB fusion gene.

28 In the three patients with the ETV6-PDGFRB fusion gene, the transcript level decreased, and

29 hilia; their leukemia cells carried the ETV6-PDGFRB fusion gene.

30 However, PDGFRB phosphorylation was not detected, suggesting that

31 Gain-of-function mutations in human PDGFRB have been linked recently to genetic diseases cha

32 p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB.

33 identified a second heterozygous mutation in PDGFRB in two myofibromas from one of the affected famil

34 Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candi

35 Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosi

36 d a de novo c.1994T>C p.Val665Ala variant in PDGFRB, which encodes the platelet-derived growth factor

37 were shown to have the identical variant in PDGFRB.

38 hilia, and a t(5;12) translocation involving PDGFRB and an unknown partner gene; he also had extensiv

39 Reciprocal translocations involving PDGFRB result in fusion genes with constitutively activa

40 ntified rearrangements involving ABL1, JAK2, PDGFRB, CRLF2, and EPOR, activating mutations of IL7R an

41 ABL1, ABL2, CRLF2, CSF1R, EPOR, JAK2, NTRK3, PDGFRB, PTK2B, TSLP, or TYK2 and sequence mutations invo

42 ative diseases associated with activation of PDGFRB.

43 y and has been associated with expression of PDGFRB mRNA.

44 AF patients may be mediated by inhibition of PDGFRB kinase activity.

45 to divergent pathogenic fungi; inhibition of PDGFRB reduces Mucorales-induced damage to host cells.

46 ls of KIT and PDGFRA but expressed levels of PDGFRB that are comparable with normal fibroblasts.

47 n the B-other group revealed the presence of PDGFRB gene fusions, particularly EBF1-PDGFRB, in almost

48 asms and eosinophilia with rearrangements of PDGFRB are uncommon Philadelphia-negative myeloprolifera

49 nounced in patient samples harboring FLT3 or PDGFRB alterations.

50 s far been associated with SLC20A2, PDGFB or PDGFRB mutations.

51 ypereosinophilic syndromes without PDGFRA or PDGFRB rearrangements.

52 No mutations of KIT, PDGFRA, or PDGFRB were found.

53 ce of the molecular lesions BCR/ABL, PDGFRA, PDGFRB, and FGFR1.

54 estigational inhibitor of FLT3, KIT, PDGFRA, PDGFRB and RET; evolution of AC220-resistant substitutio

55 were analyzed for mutations of KIT, PDGFRA, PDGFRB, and CTNNB1 (beta-catenin).

56 lasia, BCR-ABL1 or rearrangements of PDGFRA, PDGFRB or FGFR1.

57 The discovery of PDGFRA, PDGFRB, FGFR1, JAK-2, and FLT3 fusion proteins in patien

58 th eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1') and undefined (chronic eosinophilic l

59 th eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" In addition to myel

60 ted KIT oncoproteins interacted with PDGFRA, PDGFRB, phosphatidylinositol 3-kinase (PI3-K) and PKCthe

61 f 4 subjects with phospho-PDGFRA and phospho-PDGFRB immunohistochemistry studies before and after tre

62 e DFSPs included PDGF beta and its receptor, PDGFRB, APOD, MEOX1, PLA2R, and PRKCA.

63 In the past 2 years, 3 genes (SLC20A2, PDGFRB, and PDGFB) were identified as causative of prima

64 s, reduces cell proliferation and suppresses PDGFRB expression.

65 TEL-PDGFRB-mediated MPD was incompletely penetrant in TPiGFP

66 ive disease identical to that induced by TEL-PDGFRB alone.

67 nes were refractory to transformation by TEL-PDGFRB in methylcellulose colony assays.

68 ansduced murine bone marrow coexpressing TEL-PDGFRB and AE into lethally irradiated syngeneic mice.

69 family member Stat1 were dispensable for TEL-PDGFRB disease.

70 her Stat5a or Stat5b alone also impaired TEL-PDGFRB-mediated transformation.

71 demonstrating significant sensitivity of TEL-PDGFRB-induced MPD to the dosage of Stat5a.

72 nd Stat5b are dose-limiting mediators of TEL-PDGFRB-induced myeloproliferation.

73 l-culture systems, and expression of the TEL-PDGFRB fusion gene induces myeloproliferative disease (M

74 The TEL-PDGFRB fusion oncogene is associated with chronic myelom

75 scription (Stat) and Src family genes to TEL-PDGFRB-mediated transformation in methylcellulose colony

76 contrast, control mice coexpressing with TEL-PDGFRB and a DNA-binding-mutant of AE developed a nontra

77 n silico survival analysis demonstrated that PDGFRB informed poor prognosis, while PDGFRA was a posit

78 horylation was not detected, suggesting that PDGFRB is only weakly activated.

79 erized by activating mutations of either the PDGFRB or the PDGFRA gene.

80 consequence of this causative variant on the PDGFRB signaling pathway by transfecting mutant and wild

81 gly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.45

82 rgrowth syndrome), but it is unclear whether PDGFRB mutations alone are responsible.

83 cellent long-term responses in patients with PDGFRB rearrangements.