ライフサイエンスコーパス: VHL disease

1 while others result in a high risk (type 2B VHL disease).

2 leading cause of morbidity and mortality in VHL disease.

3 re are no effective treatments available for VHL disease.

4 pVHL to the elongins plays a causal role in VHL disease.

5 o and is frequently mutated in families with VHL disease.

6 ablishes NET as an independent tumor type of VHL disease.

7 d clear cell renal carcinoma associated with VHL disease.

8 most common VHL point mutation in hereditary VHL disease.

9 tudinally to determine progression of ocular VHL disease.

10 onary abnormalities were detected in classic VHL disease.

11 t a family history or additional features of VHL disease.

12 art, explain organ-specific tumorigenesis in VHL disease.

13 preferentially and multifocally targeted in VHL disease.

14 than the general population of patients with VHL disease.

15 he complex genotype-phenotype correlation in VHL disease.

16 ochromocytoma pathogenesis in the setting of VHL disease.

17 not phaeochromocytoma (PHE) occur in type 1 VHL disease.

18 eochromocytoma without the other stigmata of VHL disease.

19 er exploration of this strategy for treating VHL disease.

20 r deletion of this domain is associated with VHL disease.

21 evelopment of pancreatic cystic neoplasia in VHL disease.

22 plastic nature and integral association with VHL disease.

23 eutic approaches targeting VHL deficiency in VHL diseases.

24 ne inactivation occurs in von Hippel-Lindau (VHL) disease.

25 inherited tumor syndrome, von Hippel-Lindau (VHL) disease.

26 radically or as a part of von Hippel-Lindau (VHL) disease.

27 In VHL disease, a germline mutation of the VHL tumor suppre

28 issue-specificity of malignant conversion in VHL disease, a problem not easily explained by strict ge

29 are a cardinal feature of von Hippel-Lindau (VHL) disease, a dominantly inherited multisystem familia

30 o occurs in patients with von Hippel-Lindau (VHL) disease, a syndrome consisting of tumors caused by

31 Twenty-five patients with VHL disease and 29 surgically confirmed pancreatic NETs

32 may not be at risk for developing classical VHL disease and a further group may be mosaic for a germ

33 ith classic, heterozygous VHL mutations have VHL disease and are at high risk of multiple tumors (e.g

34 duce a mouse model that closely mimics human VHL disease and avoids embryonic lethality, we used Cre/

35 otype-phenotype correlations are emerging in VHL disease and can be rationalized if pVHL has function

36 e of two other HIF pathway diseases: classic VHL disease and HIF-2alpha gain-of-function mutation.

37 might be implicated in tumorigenesis in both VHL disease and in other cancers with HIF upregulation.

38 mor suppressor gene, the gene inactivated in VHL disease and in sporadic clear-cell renal carcinomas,

39 suppressor gene is mutated in patients with VHL disease and in the majority of patients with sporadi

40 suppressor gene is mutated in patients with VHL disease and in the majority of patients with sporadi

41 imary cilium in renal cysts of patients with VHL disease and in VHL-defective cell lines.

42 tial mechanism for renal cyst development in VHL disease and may help in the understanding of how VHL

43 ngle haemangioblastoma, no family history of VHL disease and no evidence of retinal or abdominal mani

44 suppressor gene is linked to the hereditary VHL disease and sporadic clear cell renal cell carcinoma

45 nal progression of ocular von Hippel-Lindau (VHL) disease and analysis of patient factors influencing

46 osomal dominant condition von Hippel-Lindau (VHL) disease and is implicated in most sporadic clear ce

47 e, involvement of the fellow eye with ocular VHL disease, and missense or protein-truncating germline

48 pe 2C VHL disease), in contrast to classical VHL disease, appear to be normal with respect to HIF reg

49 ing inherited missense mutations detected in VHL disease are within the elongin-binding domain of VHL

50 majority of patients with Von Hippel-Lindau (VHL) disease are affected by a VHL germline mutation inv

51 Patients with von Hippel-Lindau (VHL) disease are at risk for the development of end-stag

52 Lindau (VHL) tumor suppressor gene syndrome, VHL disease, are unknown.

53 ecause VHL mutations have been found in both VHL disease-associated and sporadic RCC.

54 We demonstrate that VHL disease-associated central nervous system tumors are

55 comparison of genomic profiles revealed that VHL disease-associated tumors are similar to a subgroup

56 es in 90 tumors, including both sporadic and VHL disease-associated tumors, in hopes of identifying n

57 the cell responsible for von Hippel-Lindau (VHL) disease-associated tumor formation has been controv

58 uarters (73%) of participants without ocular VHL disease at baseline remained disease free at the end

59 Among eyes with ocular VHL disease at baseline, 88% did not demonstrate RCHs in

60 In addition, several type-specific VHL disease-causing mutants, including those that have r

61 or gene causes the familial cancer syndrome, VHL disease, characterized by a predisposition to renal

62 familial cancer syndrome, von Hippel-Lindau (VHL) disease, characterized by a predisposition to renal

63 All VHL mutations linked to classical VHL disease compromise this pVHL function although some

64 n Hippel-Lindau (VHL) gene are pathogenic in VHL disease, congenital polycythaemia and clear cell ren

65 cerous lesions in kidneys from patients with VHL disease correlates with marked down-regulation of th

66 Patients with von Hippel-Lindau (VHL) disease develop a spectrum of bilateral clear-cell

67 rous) adenomas (MCAs) and von Hippel-Lindau (VHL) disease has been suggested.

68 Patients with VHL disease have a propensity to develop neoplasms of se

69 diagnosis and treatment of individuals with VHL disease have been established in Great Britain, Denm

70 basis for genotype-phenotype correlations in VHL disease have not been defined.

71 ndocrine tumors (NETs) in von Hippel-Lindau (VHL) disease have been reported, their pathological feat

72 reditary cancer syndrome, von Hippel-Lindau (VHL) disease, have shed new light on the molecular patho

73 tigeneration kindred with von Hippel-Lindau (VHL) disease in whom clinical or genetic screening led t

74 inked to familial pheochromocyctoma (type 2C VHL disease), in contrast to classical VHL disease, appe

75 Therefore, in VHL disease, inactivation of the VHL wild-type allele ap

76 Manifestations of VHL disease include cysts in several organs, particularl

77 patients with well-established diagnosis of VHL disease including development of characteristic tumo

78 similar to histologies seen in patients with VHL disease, including areas of distorted tubular struct

79 development of neoplasias characteristic of VHL disease, including renal cell carcinoma (RCC).

80 au (VHL) protein function is a key driver of VHL diseases, including sporadic and inherited clear cel

81 baseline age, younger age at onset of ocular VHL disease, involvement of the fellow eye with ocular V

82 Progression to malignancy in VHL disease is associated primarily with the development

83 VHL disease is characterized by distinct clinical subtyp

84 A stepwise model for malignant conversion in VHL disease is herein proposed.

85 The risk of ccRCC in VHL disease is linked to the degree of destabilization r

86 von Hippel-Lindau (VHL) disease is a dominantly inherited family cancer syn

87 von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by g

88 von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome caused by g

89 von Hippel-Lindau (VHL) disease is a multisystem inherited cancer syndrome

90 von Hippel-Lindau (VHL) disease is a pleomorphic familial tumor syndrome th

91 von Hippel-Lindau (VHL) disease is a rare familial cancer predisposition sy

92 von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer

93 Generally, von Hippel-Lindau (VHL) disease is caused by a germline mutation of the VHL

94 von Hippel-Lindau (VHL) disease is caused by germ-line mutations in the VHL

95 Von Hippel-Lindau (VHL) disease is caused by germline mutations in the VHL

96 von Hippel-Lindau (VHL) disease is caused by germline mutations of the VHL

97 von Hippel-Lindau (VHL) disease is caused by loss of function of the VHL tu

98 The von Hippel-Lindau (VHL) disease is caused by VHL germ line mutation.

99 idney disease (ADPKD) and von Hippel-Lindau (VHL) disease lead to large kidney cysts that share patho

100 Patients with ocular VHL disease maintain relative anatomic and functional st

101 istinct roles in the development of specific VHL disease manifestations.

102 three groups of patients with no evidence of VHL disease, MEN 2 or NF1: Group A, eight kindreds with

103 (MEN 2) (MIM No 171400), von Hippel-Lindau (VHL) disease (MIM No 199300), and neurofibromatosis type

104 VHL disease mutants, in two of the mutation hot spots fa

105 on and was independent of von Hippel-Lindau (VHL) disease mutations.

106 crodissected archival renal lesions from two VHL disease patients were studied for loss of heterozygo

107 Approximately 20% of VHL disease patients, however, exhibit germline deletion

108 l for high-risk cohorts such as the familial VHL disease patients.

109 In classic VHL disease, patients are germline heterozygous for muta

110 The von Hippel-Lindau (VHL) disease product is thought to down-regulate transcr

111 e VHL tumour suppressor gene cause MEN 2 and VHL disease, respectively.

112 von Hippel-Lindau (VHL) disease results from germline and somatic mutations

113 Both MCAs associated with VHL disease showed LOH with at least one of the microsat

114 anatomic and functional stability in ocular VHL disease status over a mean follow-up of 8.2 +/- 4.0

115 on Hippel-Lindau (VHL) gene are the cause of VHL disease that displays multiple benign and malignant

116 mas (RCH) associated with von Hippel-Lindau (VHL) disease treated with systemic sunitinib malate, an

117 sting potential antiangiogenic therapies for VHL disease treatment.

118 errant methylation of the von Hippel-Lindau (VHL) disease tumor suppressor gene in a human clear cell

119 In 2 cases, VHL disease was documented clinically, and 10 cases were

120 ain insights into the pathogenesis of RCC in VHL disease we compared gene expression microarray profi

121 n Hippel-Lindau (VHL) gene function leads to VHL disease, which is characterized by vascular tumors o

122 ortality in patients with von Hippel-Lindau (VHL) disease, which is caused by germ line mutations tha

123 sult in a low risk of kidney cancer (type 2A VHL disease) while others result in a high risk (type 2B

124 ealed that VHL missense mutations that cause VHL disease without renal cancer, such as Tyr98His and T