ライフサイエンスコーパス: hamartoma

1 iocarcinoma, one hemangioma, and one biliary hamartoma).

2 rome characterized by benign proliferations (hamartomas).

3 enburg complexes (VMC; also known as biliary hamartomas).

4 of the tumour typical for retinal astrocytic hamartoma.

5 lly confirmed to have a bilateral multifocal hamartoma.

6 ed to hepatocellular carcinoma and bile duct hamartoma.

7 a, fistulas, hypertelorism, cleft palate and hamartoma.

8 erapeutic potential for the treatment of TSC hamartomas.

9 in the genesis of human basaloid follicular hamartomas.

10 d intestinal malrotation with myofibromas or hamartomas.

11 s pathway may have benefit in control of TSC hamartomas.

12 ogression of the epithelial component of the hamartomas.

13 ported as Wilms tumors, nephroblastomas, and hamartomas.

14 ascular tufts are rare iris stromal vascular hamartomas.

15 terized by seizures, mental retardation, and hamartomas.

16 on whether they are considered neoplasms or hamartomas.

17 ere, we present the genomic landscape of TSC hamartomas.

18 85% of CS patients had gastrointestinal (GI) hamartomas.

19 ract corresponding to these gastrointestinal hamartomas.

20 uterine leiomyomas, and pulmonary chondroid hamartomas.

21 cal cortical dysplasia (5), heterotopia (2), hamartoma (3), cortical duplication (1), polymicrogyria

22 riginate and propagate from the hypothalamic hamartoma and adjacent structures.

23 No reported cases of GCPS have hypothalamic hamartoma and PHS does not cause hypertelorism or broade

24 syndrome, which is characterized by multiple hamartomas and a high proclivity for developing cancer.

25 ome (CS), which is characterized by multiple hamartomas and a high risk of breast and thyroid cancers

26 s syndrome, which is characterized by benign hamartomas and a susceptibility to malignant epithelial

27 Analysis of hamartomas and adenocarcinomas from patients with PJS id

28 cterize the pathogenesis of gastrointestinal hamartomas and adenocarcinomas in PJS patients.

29 CS is characterized by multiple hamartomas and an increased risk of benign and malignant

30 ome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and

31 disorder associated with the development of hamartomas and benign tumors in a variety of tissues, in

32 rome, a rare familial trait characterized by hamartomas and by predisposition to cancer of the breast

33 in the LKB1/STK11 gene cause characteristic hamartomas and freckling to develop in patients with Peu

34 Hypothalamic hamartomas and gelastic seizures are often associated wi

35 ody of anecdotal evidence about hypothalamic hamartomas and gelastic seizures, many questions still r

36 rder that is characterized by benign tumors (hamartomas and hamartias) involving multiple organ syste

37 eghers syndrome, characterized by intestinal hamartomas and increased incidence of epithelial cancers

38 CS and BRR share some features, such as hamartomas and lipomatosis.

39 ve forms of these genes may account for some hamartomas and neoplasms in TS.

40 atter is characterized by the development of hamartomas and occasional malignancies.

41 rapamycins in controlling the growth of TSC hamartomas and other tumors that depend on elevated mTOR

42 erves as a resource into the origin of these hamartomas and provides a framework that unifies genomic

43 We observed retinal hamartomas and/or epiretinal membranes in nine patients

44 cataracts, epiretinal membranes, and retinal hamartomas), and cutaneous lesions (skin tumours).

45 midline bald patches, generalized follicular hamartoma, and loose anagen syndrome, may be associated

46 ess retinal shadowing with congenital simple hamartoma, and photoreceptor loss and retinal thinning o

47 , less-severe kidney involvement, no retinal hamartomas, and less-severe facial angiofibroma.

48 r angiomyolipomas, forehead plaques, retinal hamartomas, and liver angiomyolipomas) were very rare or

49 oblastomas, cylindromas, basaloid follicular hamartomas, and rarely, BCCs.

50 ll cells are the inciting cells for TSC skin hamartomas, and suggest that studies on hamartomas will

51 rowth potential of the great majority of TSC hamartomas, and the influence of genetic background on p

52 haracterized by mental retardation, multiple hamartomas, and variable cancer risk.

53 of mesenchymal cells in leiomyomas, lipomas, hamartomas,and other diseases has been linked to the hig

54 of a search for somatic mutations in paired hamartoma- and leukocyte-derived DNA samples from 38 ind

55 We compared TSC skin hamartomas (angiofibromas and periungual fibromas) with

56 Hamartomas are composed of cells native to an organ but

57 Hamartomas are extrapleural soft tissue lesions that cau

58 risk of renal cell carcinoma (<2%), but the hamartomas are of stromal origin and patients do not dev

59 rder tuberous sclerosis, in which widespread hamartomas are seen, some of which have a high level of

60 cell carcinoma (BCC) and basaloid follicular hamartoma, are associated with aberrant Hedgehog (Hh) si

61 The hamartomas arise as a result of somatic "second hits" at

62 r series, CHRRPE was noted to be primarily a hamartoma arising from the inner retinal layers.

63 Retinal astrocytic hamartomas arose in the nerve fiber layer in every case

64 role in the pathogenesis of gastrointestinal hamartomas as well as several cancers, including pancrea

65 peractivated in many human tumors, including hamartomas associated with tuberous sclerosis complex (T

66 erozygosity (LOH) is known to occur in these hamartomas at loci of both TSC1 and TSC2.

67 ure of these diseases is a predisposition to hamartomas, benign tumours containing differentiated but

68 Optic pathway gliomas are not hamartomas but truly are neoplasms.

69 Although hamartomas can occur in almost any organ, they are most

70 egression, thought to be a characteristic of hamartomas, can be seen in neoplasms of other types as w

71 regions are most affected by the location of hamartomas causing laughing versus other types of seizur

72 uman development that comprises hypothalamic hamartoma, central polydactyly, and other malformations.

73 We report pulmonary chondroid hamartoma chromosome 6p21 aberrations targeting HMGI(Y).

74 0 kb of HMGI(Y), and one pulmonary chondroid hamartoma contained an intragenic fusion juxtaposing HMG

75 ) mice had shortened lifespans and extensive hamartomas containing abnormal tortuous, dilated vessels

76 ith tuberous sclerosis complex (TSC) develop hamartomas containing biallelic inactivating mutations i

77 ppressor gene disorder characterized by skin hamartomas, cystic lung disease, and renal cell carcinom

78 dings with depth electrodes implanted in the hamartoma demonstrated focal seizure origin from the ham

79 f these signals in malformations such as the hamartoma described here.

80 is a tumor suppressor gene syndrome in which hamartomas develop in multiple organ systems.

81 In the tuberous sclerosis complex (TSC), hamartomas develop in multiple organs because of mutatio

82 al dominant genetic disorder in which benign hamartomas develop in multiple organs, caused by mutatio

83 ikingly similar to human basaloid follicular hamartomas develop, but BCCs do not arise even in elderl

84 g mice potently inhibited epithelial bud and hamartoma development without affecting Hh signaling.

85 The hamartomas did not show evidence of loss of the wild-typ

86 Birt-Hogg-Dube syndrome, a hamartoma disorder characterized by benign tumors of the

87 ed more proliferation and mTOR activation in hamartoma epidermis.

88 clerosis complex, a disease characterized by hamartoma formation in multiple tissues.

89 autosomal dominant disease characterized by hamartoma formation in various organs and is caused by m

90 autosomal dominant disease characterized by hamartoma formation in various organs.

91 mice closely resemble the retinal astrocytic hamartomas found in human tuberous sclerosis (TSC) disea

92 n the basis of linkage analysis or because a hamartoma from the patient showed loss of heterozygosity

93 We analyzed 24 hamartomas from 10 patients for second-hit mutations, by

94 eta-catenin signaling in epithelial buds and hamartomas from mice expressing an oncogene, M2SMO, lead

95 ons such as cortical tubers and subependymal hamartoma/giant cell astrocytomas are major causes of TS

96 er TSC1 or TSC2, and characterized by benign hamartoma growth.

97 Several pulmonary chondroid hamartomas had chromosome rearrangements mapping within

98 ilar to the Lkb1(+/-) mice, gastrointestinal hamartomas have also been detected in the mice with thes

99 The hypothalamic hamartoma (HH) is a rare developmental malformation ofte

100 Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recogniz

101 Hypothalamic hamartomas (HH) are rare, benign congenital tumors assoc

102 Human hypothalamic hamartomas (HHs) are highly associated with treatment-re

103 seizures demonstrated hyperperfusion in the hamartomas, hypothalamic region, and thalamus without co

104 s identified in an adenocarcinoma but not in hamartomas, implying that allelic loss of these two regi

105 a demonstrated focal seizure origin from the hamartoma in 1 patient.

106 tasia type 2 and solitary retinal astrocytic hamartoma in one patient.

107 cell carcinoma (BCC) and basaloid follicular hamartoma in skin.

108 ic signaling abnormalities underlie specific hamartomas in a model of a human genetic disorder.

109 TSC2, is characterized by the development of hamartomas in a variety of organs.

110 TSC2, is characterized by the development of hamartomas in a variety of organs.

111 TSC2 and is characterized by the presence of hamartomas in many organs.

112 x (TSC) is characterized by the formation of hamartomas in multiple organs resulting from mutations i

113 c disorder characterized by the formation of hamartomas in multiple organs.

114 autosomal dominant disorder characterized by hamartomas in one or more organs, including the brain, s

115 rly gatekeeper regulating the development of hamartomas in PJS and suggest that hamartomas may be pat

116 odalities for the treatment and detection of hamartomas in PJS patients, and potential for the screen

117 C2 gene, characterized by the development of hamartomas in various organs and neurological manifestat

118 affected individuals develop benign tumors (hamartomas) in many organs.

119 ly upregulated in mouse and human follicular hamartomas, in contrast to the high levels detected in B

120 zygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour supp

121 roblast-like cells grown from human TSC skin hamartomas induced normal human keratinocytes to form ha

122 inant cellular phenotype of the subependymal hamartomas is astroglial and suggests that the neuronal

123 enodermatosis characterized by hair follicle hamartomas, kidney tumors and spontaneous pneumothorax.

124 The fact that hamartomas, lung cysts, and renal cell carcinoma can als

125 opment of hamartomas in PJS and suggest that hamartomas may be pathogenetic precursors of adenocarcin

126 thogenesis, "benign tumor of the iris," not "hamartoma," may be a better descriptor.

127 (n = 4), focal nodular hyperplasia (n = 2), hamartoma (n = 1), and metastatic embryonal sarcoma (n =

128 (n = 9); group V, proliferating neurocristic hamartoma (n = 1); and group VI, melanoma arising in con

129 = 18; 3%), coloboma (n = 17; 3%), astrocytic hamartoma (n = 15; 2%), combined hamartoma of retina and

130 TSC), in which development of benign tumors, hamartomas, occurs via a two-hit mechanism.

131 ology for this condition is 'lipofibromatous hamartoma of nerve' or Type I macrodactyly.

132 astrocytic hamartoma (n = 15; 2%), combined hamartoma of retina and retinal pigment epithelium (n =

133 Mesenchymal hamartoma of the chest wall may be recognized by its cha

134 tomography (OCT) characteristics of combined hamartoma of the retina and retinal pigment epithelium (

135 on and retinal disorganization with combined hamartoma of the retina and retinal pigment epithelium,

136 Hamartoma of the thoracic wall is a rare benign tumor th

137 CD is characterized by hamartomas of many organ systems, including the thyroid,

138 e a group of disorders that feature multiple hamartomas of the central and peripheral nervous system,

139 For 14 mesenchymal hamartomas of the chest wall in 12 children, radiologic

140 neous pigmentation, predisposition to benign hamartomas of the gastrointestinal tract and also to sev

141 , a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), pred

142 ce of two or more Lisch nodules (melanocytic hamartomas of the iris) is one of seven diagnostic crite

143 bromas, hyperpigmentation of melanocytes and hamartomas of the iris.

144 Orbital lymphangiomas, congenital hamartomas of the lymphovascular tissue, are often assoc

145 Hamartomas overgrow epithelial and mesenchymal cells in

146 Hypothalamic hamartomas present with isolated fits of ictal laughter

147 sias had better outcome than heterotopia and hamartoma regardless of type of surgical procedure.

148 Stereotactic radiofrequency lesioning of the hamartoma resulted in seizure remission without complica

149 umors, such as retinoblastoma and astrocytic hamartoma, reveals full-thickness replacement of the ret

150 le for Cowden disease, an autosomal dominant hamartoma syndrome associated with thyroid and breast tu

151 Tuberous sclerosis (TSC) is a hamartoma syndrome attributable to mutations in either T

152 erous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two

153 Tuberous sclerosis (TSC) is a hamartoma syndrome caused by mutations in TSC1 or TSC2 i

154 Tuberous sclerosis is a hamartoma syndrome due to mutations in TSC1 or TSC2 in w

155 berous sclerosis complex (TSC) is a familial hamartoma syndrome in which renal involvement is common

156 ed in Cowden syndrome, an inherited multiple hamartoma syndrome that includes predisposition to FTC.

157 me (CS) is a difficult-to-recognize multiple hamartoma syndrome with high risks of breast, thyroid, a

158 ns cause tuberous sclerosis complex (TSC), a hamartoma syndrome with lung involvement.

159 pose patients to develop renal tumors in the hamartoma syndrome, Birt-Hogg-Dube (BHD).

160 sing two cell culture models of the familial hamartoma syndrome, tuberous sclerosis, we show here tha

161 ase (CD), a rare autosomal dominant multiple-hamartoma syndrome.

162 tuberous sclerosis complex, the PTEN-related hamartoma syndromes and Peutz-Jeghers syndrome.

163 ressor gene PTEN have been implicated in two hamartoma syndromes that exhibit some clinical overlap,

164 Bannayan-Riley-Ruvalcaba (BRR) syndrome, two hamartoma syndromes with an increased risk of breast and

165 iseases, including obesity, type 2 diabetes, hamartoma syndromes, and cancer.

166 ay be a common molecular basis, not only for hamartoma syndromes, but also for other cellular hypertr

167 ossible explanation for the benign nature of hamartoma syndromes, including TSC.

168 ed mTOR activity are associated with several hamartoma syndromes, including tuberous sclerosis comple

169 coded by genes responsible for several other hamartoma syndromes, LKB1, TSC1/2, and PTEN, have been s

170 ould easily be confused with other inherited hamartoma syndromes, such as Bannayan-Riley-Ruvalcaba sy

171 TOR) signaling and are defective in distinct hamartoma syndromes.

172 naling and are mutated in autosomal dominant hamartoma syndromes.

173 lcaba syndrome (BRRS) are autosomal dominant hamartoma syndromes.

174 dentified as the susceptibility gene for two hamartoma syndromes: Cowden disease (CD; MIM 158350) and

175 of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a

176 Heterozygotes develop gastric hamartomas that are histologically similar to those foun

177 nd SD-OCT aid in the detection of astrocytic hamartomas that are not visible on clinical examination

178 e development of PHTS and also reverses skin hamartomas that have reached advanced stages in mice.

179 nd SD-OCT detected occult retinal astrocytic hamartomas that were not observed on clinical examinatio

180 utational events underlie the progression of hamartomas to adenocarcinomas, and some of these somatic

181 ith Krt5 in vivo, delays basaloid follicular hamartoma tumor initiation and growth in mice with const

182 PTEN hamartoma tumor syndrome (PHTS) comprises a collection o

183 PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal-dominant

184 se and tensin homolog (PTEN) gene cause PTEN hamartoma tumor syndrome (PHTS), which includes cataract

185 yndromes that are collectively known as PTEN hamartoma tumor syndrome (PHTS).

186 h heterozygous germline PTEN mutations (PTEN hamartoma tumor syndrome [PHTS]).

187 romosome 10) is the underlying cause of PTEN hamartoma tumor syndrome and a wide variety of human can

188 , macrocephaly, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to inclu

189 es that are jointly referred to as the "PTEN hamartoma tumor syndrome" (PHTS) and include Cowden synd

190 iedemann syndrome/ hemihypertrophy, and PTEN hamartoma tumor syndrome, among others, are reviewed.

191 ations, and collectively referred to as PTEN hamartoma tumor syndrome.

192 ch are collectively referred to as the "PTEN hamartoma tumor syndrome." The human PTEN gene has been

193 hatase, have been implicated in at least two hamartoma tumor syndromes that exhibit some clinical ove

194 mosome ten (PTEN) are found in two inherited hamartoma tumor syndromes: Cowden syndrome, which has a

195 n of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.

196 Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumor syndromes with an increased risk of brea

197 en syndrome and a range of several different hamartoma-tumor syndromes.

198 ke syndrome, collectively classified as PTEN hamartoma tumour syndrome (PHTS).

199 but no peripheral manifestations of the PTEN hamartoma tumour syndrome.

200 riety of human cancers and several inherited hamartoma tumour syndromes, including Cowden syndrome, w

201 Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations

202 ndrome with neurological symptoms and benign hamartoma tumours in the brain.

203 r structural changes over time in astrocytic hamartomas using SD-OCT may be beneficial for monitoring

204 elangiectasia type 2 and solitary astrocytic hamartoma was detected as a unique and rare observation.

205 cases of gelastic epilepsy and hypothalamic hamartoma, we aimed to address these questions by analys

206 Astrocytic hamartomas were bilateral in 43.3% and 18.1% (P=0.009) a

207 Hamartomas were hyporeflective on infrared imaging and h

208 d, of which the subependymal and subcortical hamartomas were most prevalent (65%).

209 elded lesions resembling basaloid follicular hamartomas, which have previously been linked to low-lev

210 r characterized by widespread development of hamartomas, which is caused by mutations in either TSC1

211 skin hamartomas, and suggest that studies on hamartomas will provide insights into tissue morphogenes

212 PJS patients develop gastrointestinal hamartomas with 100% penetrance often in the second deca

213 ts recapitulated characteristics of TSC skin hamartomas with increased mammalian target of the rapamy