ライフサイエンスコーパス: Cowden

1 Cowden disease (CD) is an autosomal dominant cancer pred

2 Cowden Disease patients, who harbor germ-line PTEN mutat

3 Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

4 Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

5 Cowden syndrome (CS) is a difficult-to-recognize multipl

6 Cowden syndrome (CS) is a rare autosomal dominant cancer

7 Cowden syndrome (CS) is an autosomal dominant disorder a

8 Cowden syndrome (CS) is an autosomal dominant disorder c

9 Cowden syndrome (CS) is an autosomal dominant disorder t

10 Cowden syndrome (CS) is an autosomal-dominant disorder c

11 Cowden syndrome (CS), a Mendelian autosomal-dominant dis

12 Cowden's disease is an autosomal dominant disorder chara

13 riety of diseases including lactic acidosis, Cowden Syndrome, and several cancers.

14 Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden disease (CD).

15 Bannayan-Riley-Ruvalcaba syndrome (BRRS) and Cowden syndrome (CS).

16 mosome 10) are found in sporadic cancers and Cowden syndrome patients, respectively.

17 lcaba syndrome, juvenile polyposis coli, and Cowden disease, may share the same genetic defect becaus

18 syndrome, juvenile intestinal polyposis and Cowden disease, respectively.

19 ociated with a subset of Cowden syndrome and Cowden syndrome-like individuals (CS/CSL) and confer hig

20 unt for the remainder of Cowden syndrome and Cowden-like syndrome.

21 erous sclerosis, Peutz-Jeghers syndrome, and Cowden's disease, which are characterized by hamartomato

22 l dominant familial cancer syndrome known as Cowden disease, which includes breast cancer among its c

23 th a cancer predisposition syndrome known as Cowden's disease.

24 en described as different disorders, such as Cowden disease, Lhermitte-Duclos disease, and Bannayan-Z

25 in cancer susceptibility syndromes, such as Cowden syndrome, in which over 80% of patients have muta

26 ses cancer-susceptibility conditions such as Cowden syndrome.

27 n to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple

28 t heritable cancer syndromes, including both Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

29 sin homology deleted on chromosome 10) cause Cowden and Bannayan-Riley-Ruvalcaba (BRR) syndromes, two

30 PTEN, encoding a phosphatase on 10q23, cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

31 al-specificity phosphatase on 10q23.3, cause Cowden syndrome (CS), which is characterized by a high r

32 Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

33 Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

34 se and tensin homolog (PTEN) mutations cause Cowden syndrome (CS), associated with breast and thyroid

35 Germline PTEN mutations cause Cowden syndrome and a range of several different hamarto

36 Germline mutations in PTEN cause Cowden syndrome (CS), which is characterized by multiple

37 e mutations of PTEN have been shown to cause Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and P

38 n subtle clinical findings that characterize Cowden Syndrome are frequently unrecognized, raising the

39 N result in the dominantly inherited disease Cowden syndrome, which is characterized by multiple hama

40 ociated with the multihamartomatous disorder Cowden syndrome (CS).

41 related human autosomal dominant disorders, Cowden disease (CD), Lhermitte-Duclos disease (LDD) and

42 share several overlapping clinical features: Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Prot

43 The susceptibility gene for Cowden disease (CD), an autosomal dominant inherited can

44 d to 10q23.3, is the susceptibility gene for Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba (BRR)

45 is a well-described predisposition gene for Cowden syndrome (CS), a familial cancer syndrome charact

46 The gene for Cowden syndrome has recently been located and it will no

47 carcinogenesis in a genuine mouse model for Cowden syndrome.

48 This area overlaps the region for Cowden disease, a distinct hamartomatous intestinal poly

49 m-line mutations in PTEN are responsible for Cowden disease (CD), a rare autosomal dominant multiple-

50 a region harboring the gene responsible for Cowden disease, an autosomal dominant hamartoma syndrome

51 We show that cell lines from Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome pa

52 he enteric caliciviruses except Po/Sapo/GIII/Cowden/80/US replicates in cell culture, which complicat

53 The porcine SaV/GIII/Cowden/80/US strain causes diarrhea and intestinal lesio

54 Individuals with PTEN mutations have Cowden syndrome (CS), associated with breast, thyroid, a

55 in the germ line of patients with hereditary Cowden disease.

56 y to explore novel therapeutic approaches in Cowden's disease.

57 utations in PTEN have also been described in Cowden disease and in a small number of patients with ju

58 line and somatic PTEN mutations are found in Cowden syndrome (CS) and multiple sporadic malignancies,

59 sphatase tumor suppressor, is inactivated in Cowden syndrome (CS), characterized by high risk of brea

60 h PTEN, the tumor suppressor gene mutated in Cowden syndrome, an inherited multiple hamartoma syndrom

61 Enhanced activation of Akt occurs in Cowden's disease, an inherited syndrome of follicular th

62 aps sex-specific neoplasia predisposition in Cowden syndrome, as well as why only a fraction of women

63 nal hamartomatous polyps are also present in Cowden syndrome (CS; MIM 158350) and Bannayan-Zonana syn

64 hamartoma tumor syndrome" (PHTS) and include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Prot

65 ral familial neoplastic disorders, including Cowden disease and Bannayan-Zonana syndrome.

66 eral related neoplastic disorders, including Cowden disease.

67 and heritable neoplasia syndromes, including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

68 erited hamartoma tumour syndromes, including Cowden syndrome, which has a high risk of breast and thy

69 Patients who met relaxed International Cowden Consortium criteria (N = 2548) or with 5 or more

70 Carlin DJ, Naujokas MF, Bradham KD, Cowden J, Heacock M, Henry HF, Lee JS, Thomas DJ, Thomps

71 Cowden syndrome features but who do not meet Cowden syndrome diagnostic criteria, have PTEN mutations

72 multiple endocrine neoplasia type 2 (MEN2), Cowden syndrome, and familial adenomatous polyposis (FAP

73 Most Cowden's disease patients harbor inactivating mutations

74 sceptibility gene for PTEN mutation negative Cowden syndrome.

75 n homolog gene (PTEN) mutations cause 80% of Cowden syndrome, a rare autosomal-dominant disorder (1 i

76 Germline PTEN mutations cause 85% of Cowden syndrome (CS), characterized by a high risk of br

77 hyroid cancer is a major component cancer of Cowden syndrome (CS), a disorder typically associated wi

78 ns in PTEN are responsible for most cases of Cowden Syndrome, a rare familial trait characterized by

79 e syndrome, who have various combinations of Cowden syndrome features but who do not meet Cowden synd

80 er has been shown to be a minor component of Cowden syndrome.

81 also play a major role in the development of Cowden and Bannayan-Zonana syndromes, in which patients

82 ation, rapamycin can halt the development of Cowden's disease-like lesions, thereby prolonging animal

83 irm the role of this gene in the etiology of Cowden disease.

84 ehend the broad neoplastic manifestations of Cowden syndrome/Bannayan-Riley-Ruvalcaba and sporadic ca

85 d provide novel clues to the pathogenesis of Cowden Disease and sporadic nontoxic goiter.

86 direction, may account for the remainder of Cowden syndrome and Cowden-like syndrome.

87 , SDHD-H50R) are associated with a subset of Cowden syndrome and Cowden syndrome-like individuals (CS

88 hanisms of the pathogenesis of the subset of Cowden syndrome individuals with germ line promoter vari

89 ion for the chemoprevention and treatment of Cowden disease patients and others tumor syndromes that

90 ries of 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffected individuals witho

91 ommon among patients with Cowden syndrome or Cowden-like syndrome and is associated with increased ri

92 Of 123 patients with Cowden syndrome or Cowden-like syndrome, 45 (37%; 95% confidence interval [

93 yndromes that exhibit some clinical overlap, Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

94 yndromes that exhibit some clinical overlap, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

95 Cloning and sequence analysis of the PEC Cowden full-length genome revealed that it is most close

96 perimmune and convalescent-phase sera to PEC Cowden in enzyme-linked immunosorbent assay (ELISA) and

97 Porcine enteric calicivirus (PEC/Cowden) causes diarrhea in pigs, grows in cell culture,

98 d reverse transcription-PCR products, TC PEC/Cowden has an RNA genome of 7,320 bp, excluding its 3' p

99 TC PEC/Cowden has one silent mutation in its protease, two amin

100 comparisons revealed that the WT and TC PEC/Cowden have 100% nucleotide sequence identities in the 5

101 may be associated with adaptation of TC PEC/Cowden to cell culture.

102 calicivirus (tissue culture-adapted [TC] PEC/Cowden).

103 he complete RNA genome of wild-type (WT) PEC/Cowden was also sequenced.

104 responses than those induced by the TC PoSaV Cowden strain.

105 for the cell culture adaptation of the PoSaV Cowden strain.

106 Compared to the wild-type (WT) PoSaV Cowden strain, tissue culture-adapted (TC) PoSaV has two

107 The porcine sapovirus (SaV) (PoSaV) Cowden strain is one of only a few culturable enteric ca

108 juvenile polyposis syndrome, and, possibly, Cowden's syndrome.

109 e and tumor lesions that strikingly resemble Cowden's disease.

110 ding RVA (EC and Ty-1), RVB (IDIR), and RVC (Cowden).

111 The tissue culture-adapted porcine sapovirus Cowden strain is one of only a few culturable enteric ca

112 GII human noroviruses and porcine sapovirus Cowden strain.

113 PEC strain Cowden grows to low to moderate titers in cell culture b

114 A porcine enteric calicivirus (PEC), strain Cowden in the family Caliciviridae (genus Sapovirus), ca

115 A porcine enteric calicivirus (PEC), strain Cowden in the genus Sapovirus of the Caliciviridae famil

116 fection with porcine sapovirus (PSaV) strain Cowden, the only cultivable virus within the genus Sapov

117 y cultivable porcine sapovirus (PSaV) strain Cowden, we demonstrate that PSaV induced the vitalizatio

118 y cancer syndromes such as Gardner syndrome, Cowden disease, and other rare syndromes.

119 )] and sometimes as part of known syndromes (Cowden, Gorlin and Banayan-Zonana) in association with d

120 hereditary cancer predisposition syndromes, Cowden disease, and Bannayan-Zonana syndrome, wherein br

121 eptibility gene for two hamartoma syndromes: Cowden disease (CD; MIM 158350) and Bannayan-Zonana (BZS

122 in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to bre

123 in two inherited hamartoma tumor syndromes: Cowden syndrome, which has a high risk of breast, thyroi

124 evealed that the tissue culture-adapted (TC) Cowden PEC has one distant and three clustered amino aci

125 tified, including BRCA1, BRCA2, p53, and the Cowden disease gene PTEN/MMAC1.

126 ong samples from the different farms and the Cowden strain of porcine group C rotavirus.

127 in the 20-cM region within and flanking the Cowden critical interval.

128 A full-length cDNA copy of the Cowden PEC genome was cloned into a plasmid vector direc

129 c tumors is related to the CD gene, then the Cowden critical interval can be revised to lie within th

130 4tc/C strain was more closely related to the Cowden porcine group C strain than to the Shintoku bovin

131 es tested had neutralizing antibodies to the Cowden strain, and the majority of them had neutralizing

132 nd also in the germline of patients with the Cowden's breast cancer predisposition syndrome.

133 the human genome project, has been linked to Cowden cancer-predisposition syndrome (CS) in PTEN wild-

134 also identified as the gene predisposing to Cowden disease, an autosomal dominant cancer predisposit

135 n PTEN, PTEN-G129E, which is observed in two Cowden disease kindreds, specifically ablates the abilit

136 y recognized that LDD may be associated with Cowden syndrome (CS).

137 lysine mutant of PTEN, K289E associated with Cowden syndrome, retains catalytic activity but fails to

138 A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase ac

139 ient with a clinical history consistent with Cowden disease.

140 iscuss the association of this disorder with Cowden syndrome.

141 (BMP) have been found in rare families with Cowden syndrome, suggesting that there may be a link bet

142 is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndro

143 arge heterogeneous group of individuals with Cowden-like syndrome, who have various combinations of C

144 e tumor phenotypes observed in patients with Cowden and BRR syndromes can be attributed to specific m

145 TEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with Bannayan-R

146 Patients with Cowden syndrome (CS) with underlying germline PTEN mutat

147 alleles of PTEN identified in patients with Cowden syndrome and show that the nonsense Pten(4-5) and

148 ospective nested series of 123 patients with Cowden syndrome or Cowden-like syndrome and 50 unaffecte

149 IN methylation is common among patients with Cowden syndrome or Cowden-like syndrome and is associate

150 Of 123 patients with Cowden syndrome or Cowden-like syndrome, 45 (37%; 95% co

151 PTEN (MMAC1/TEP1) are found in patients with Cowden syndrome, a familial cancer syndrome which is cha

152 Here we show that, in patients with Cowden syndrome, an inherited cancer syndrome caused by

153 cancers as part of families with and without Cowden syndrome or FAP.