ライフサイエンスコーパス: HPS

1 HPS and CHS mutations in 8 human and at least 16 murine

2 HPS and POPH have major clinical implications for liver

3 HPS arises from mutations in any of 8 genes in humans an

4 HPS has a mortality rate of 40% and, unlike many other s

5 HPS in humans can also be caused by mutations in genes e

6 HPS in humans or mice is caused by mutations in any of 1

7 HPS independently increases mortality, regardless of the

8 HPS is a genetically heterogeneous disorder of intracell

9 HPS is the most common condition, found in 5%-30% of cir

10 HPS Model for End-Stage Liver Disease exception patients

11 HPS patients have oculocutaneous albinism, bruising, and

12 HPS type 1 (HPS-1) occurs frequently on the island of Pu

13 HPS was associated with a significant increase in risk o

14 HPS was present in 27 (17%) patients.

15 HPS-5 results from deficiency of the HPS5 protein, a com

16 HPS type 1 (HPS-1) occurs frequently on the island of Puerto Rico be

17 el for the Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder causing pigmenta

18 We evaluated 106 HPS patients at the Mayo Clinic from 1986 through 2010.

19 orbate utilization by Escherichia coli K-12; HPS catalyzes a Mg(2+)-dependent aldol condensation betw

20 sosome-related organelle complex-2 (BLOC-2) (HPS-5), BLOC-3 (HPS-1), and adaptin-3 (HPS-2).

21 secretion ex vivo was also impaired in all 3 HPS models but was incompletely rescued by high agonist

22 ed by low agonist doses is impaired in all 3 HPS models.

23 3 is depleted in mouse platelets from 2 of 3 HPS models and, when expressed ectopically in melanocyte

24 C-2) (HPS-5), BLOC-3 (HPS-1), and adaptin-3 (HPS-2).

25 rganelle complex-2 (BLOC-2) (HPS-5), BLOC-3 (HPS-1), and adaptin-3 (HPS-2).

26 Hermansky-Pudlak Syndrome-type 3 (HPS-3) is a relatively mild subtype of HPS with minimal

27 This study demonstrates that 5'- and 3'-HPS-ODNs are highly efficacious against M. tuberculosis

28 LT was accomplished in 49 HPS patients.

29 obtained as fresh frozen plasma (FFP) from a HPS survivor.

30 lizes to melanosomes in a manner requiring a HPS-associated protein complex that functions from early

31 specific correction of the HPS2 defect in an HPS mouse model.

32 human primary lung endothelial cells with an HPS-associated hantavirus, Andes virus.

33 ortality in patients with subtypes HPS-1 and HPS-4, which both result from defects in biogenesis of l

34 The rat models with liver cirrhosis and HPS were induced by multiple pathogenic factors for 4 to

35 The rat model of liver cirrhosis and HPS were induced with multiple pathogenic factors.

36 of the sequences of orthologous KGPDC's and HPS's, four conserved active site residues in the KGPDC

37 t agreement with results from CAP/CTM v2 and HPS/CTM v2 in samples with quantifiable viral loads.

38 he G1 cytoplasmic tails of pathogenic Andes (HPS) and Hantaan (HFRS) viruses are also degraded by the

39 were identified in AMs and BAL from another HPS model, pale ear HPS1 mice.

40 o melanosomes in melanocytes lacking another HPS-associated protein complex, adaptor protein (AP)-3.

41 he American National Standard Institute ANSI/HPS N13.30-2011 standard for the root mean squared error

42 e albinism and establishing his diagnosis as HPS-9.

43 a endotoxin level was gradually increased as HPS developed, and the mRNA and protein expression level

44 trol, Kaplan-Meier survival analysis between HPS patients and 77 patients without HPS matched for liv

45 c and clinical features were similar between HPS and non-HPS patients except for the Child-Pugh score

46 ar leak syndrome that accurately mimics both HPS disease in humans and ANDV infection of hamsters.

47 tively infect LECs and that LEC infection by HPS causing Andes virus (ANDV) and HFRS causing Hantaan

48 Three of nine characterized HPS subtypes result from mutations in subunits of BLOC-2

49 ical samples from 81 patients with confirmed HPS.

50 rth America, propagated in deer mice develop HPS, which is characterized by thrombocytopenia, leukocy

51 among singleton infants who did not develop HPS and were frequency matched to cases by birth year.

52 g CBDL, but not TAA exposure, rats developed HPS that was temporally correlated with increased number

53 We used five different HPS and Chediak-Higashi mouse models to evaluate genotyp

54 ibute to edematous fluid accumulation during HPS.

55 Acute pulmonary edema during HPS may be caused by capillary leakage and failure of ly

56 , as a result, capillary permeability during HPS.

57 endoplasmic reticulum stress response during HPS, which may play an important role in the disease pat

58 Therefore, it is important to subtype each HPS patient.

59 eption era since 2002 as compared to earlier HPS transplants.

60 ulmonary angiogenesis occurs as experimental HPS develops, accompanied by activation of VEGF-A-associ

61 cyte accumulation, and improves experimental HPS; we evaluated whether pulmonary angiogenesis develop

62 scular monocyte accumulation in experimental HPS.

63 naling and lung angiogenesis in experimental HPS.

64 compared a subset of 31 patients with fatal HPS and 20 surviving patients for whom samples were avai

65 s, compared with <50% of patients with fatal HPS, and the distribution of IgG responses was significa

66 d be impacted in 14.4% and 6.2% of cases for HPS and ART respectively.

67 tly admitted with both a diagnostic code for HPS and a procedure code for pyloromyotomy (n = 714).

68 gs may be the critical pathogenic factor for HPS.

69 We investigated genetic risk factors for HPS in patients with advanced liver disease.

70 re identified a new susceptibility locus for HPS.

71 taviruses; however, to date an NHP model for HPS has not been described.

72 s for mutations in the genes responsible for HPS-1 through HPS-6 and found no functional mutations in

73 The patient was tested for HPS-associated genes, but no mutation was detected.

74 et for clinical prevention and treatment for HPS and related complications.

75 is no approved pharmacological treatment for HPS, we investigated whether inhibitors of the mTOR path

76 Melanocytes from HPS model mice lacking a different protein complex, BLOC

77 idues from KGPDC reaction with residues from HPS.

78 sults in a disease that closely mimics human HPS in incubation time, symptoms of respiratory distress

79 s pathogenesis in the hamster model of human HPS.

80 in an effort to improve the outcome of human HPS.

81 nt model of HPS that closely resembles human HPS.

82 y distress syndrome closely resembling human HPS.

83 HPS-5 melanocytes, but it was not altered in HPS-1 or HPS-2 melanocytes.

84 scular monocyte adhesion and angiogenesis in HPS involve interaction of endothelial C-X3-C motif liga

85 bility, we generated bone marrow chimeras in HPS and wild-type mice.

86 m E. coli were mutated to those conserved in HPS's (E112D/R139V/T169A/R192A): the value of the k(cat)

87 To determine whether intrinsic defects in HPS alveolar macrophages cause fibrotic susceptibility,

88 hanisms of disease continue to be defined in HPS, providing potential targets for pharmacologic inter

89 t defective hemostatic thrombus formation in HPS mice largely reflected reduced total platelet accumu

90 (2) impaired secretion of alpha granules in HPS, and to some degree of lysosomes, is secondary to im

91 that circulating CHI3L1 levels are higher in HPS patients with pulmonary fibrosis compared with those

92 lial cells, the main target cell infected in HPS patients.

93 erase (Dct), and LAMP1 and 3 localization in HPS-3 melanocytes, as evaluated by immunocytochemistry a

94 Long-term outcome after LT in HPS is favorable, with a trend towards improved survival

95 Genes mutated in HPS encode subunits of the biogenesis of lysosome-relate

96 mechanisms of lung inflammation observed in HPS.

97 e secretion might contribute to pathology in HPS.

98 n the distribution or abundance of Pmel17 in HPS-5 melanocytes.

99 and dendritic tips; this was much reduced in HPS-5 melanocytes, particularly in the tips.

100 te the pulmonary microvascular remodeling in HPS pathogenesis.

101 ggest that bottle feeding may play a role in HPS etiology, and further investigations may help to elu

102 whether alveolar macrophages play a role in HPS pathogenesis, alveolar macrophages were depleted in

103 in the endothelial cell permeability seen in HPS and suggest potential immunotherapeutic targets for

104 lmonary fibrosis progression and severity in HPS.

105 er transplantation (LT) improves survival in HPS.

106 he proteasomal degradation of the G1 tail in HPS or HFRS is unclear, these findings link G1 tail degr

107 Lung HPS and the parenchymal pneumonia subscores (neutrophili

108 Mismatched HPS-ODNs had no growth-inhibitory capacity.

109 We recommend molecular HPS subtyping in such cases, as it may have significant

110 her storage granules in platelets from mouse HPS models that lack adaptor protein (AP)-3 or biogenesi

111 his paper, we exploit melanocytes from mouse HPS models to place BLOC-2 within a cargo transport path

112 Using murine HPS models, we also determined that these animals have a

113 , which trafficked normally in BLOC-3 mutant HPS.

114 al features were similar between HPS and non-HPS patients except for the Child-Pugh score, which was

115 at pulmonary fibrosis in naturally occurring HPS mice is driven by intracellular trafficking defects

116 Naturally occurring HPS mice reliably model important features of the human

117 n of three 5'-, 3'-hairpin-modified PS-ODNs (HPS-ODNs) targeting each of the three mycolyl transferas

118 irus (SNV), the primary etiological agent of HPS in North America, propagated in deer mice develop HP

119 s occurs early during the clinical course of HPS, whereas production of IgG antibodies may be more pr

120 decreased TYRP1 labeling in the dendrites of HPS-5 melanocytes, and the overall abundance of TYRP1 wa

121 sion of the tyrosinase cargo in dendrites of HPS-5 melanocytes, but it was not altered in HPS-1 or HP

122 e mechanisms that mediate the development of HPS in certain patients with severe liver disease.

123 birth is associated with the development of HPS in infants.

124 giogenesis contributes to the development of HPS, but pathogenesis in humans is poorly understood.

125 r findings demonstrate that the diagnosis of HPS should be considered in Hispanic patients with oculo

126 lso had a genetically confirmed diagnosis of HPS.

127 llar cells may also be a clinical feature of HPS patients, a pathological event which has not been re

128 This report reviews the features of HPS and CD, 2 entities characterized by a granulomatous

129 ble the distinct ultrastructural features of HPS-3 melanocytes; HPS3 is also a BLOC-2 component.

130 LDN in a boy with characteristic features of HPS.

131 onsidered among the typical skin findings of HPS.

132 OC-2, that are deficient in several forms of HPS.

133 We assessed the impact of HPS in patients evaluated for liver transplantation.

134 We conclude that the lungs of HPS mice exhibit hyperresponsiveness to LPS and constitu

135 ecoming clearer, including the management of HPS with severe hypoxemia.

136 nary syndrome (HPS) and in the management of HPS, particularly regarding liver transplantation.

137 o be efficiently delivered to melanosomes of HPS-5 melanocytes.

138 In a rat model of HPS induced by common bile duct ligation (CBDL), but not

139 es were depleted in an adult rodent model of HPS that closely resembles human HPS.

140 disease pathogenesis in the hamster model of HPS.

141 ood products obtained from a small number of HPS survivors.

142 mples from the first week after the onset of HPS, all surviving patients had SNV-specific IgG respons

143 e available within a week after the onset of HPS.

144 mechanistic data into the pathophysiology of HPS in a closely related surrogate animal model.

145 been made in defining the pathophysiology of HPS in experimental models as well as in human disease,

146 ionally, the implications of the presence of HPS as it relates to prioritizing patients for liver tra

147 The presence of HPS increases mortality and impairs quality of life, but

148 ing was associated with an increased risk of HPS (odds ratio [OR], 2.31; 95% CI, 1.81-2.95).

149 ding is associated with an increased risk of HPS and that this risk is modified by other risk factors

150 ding is associated with an increased risk of HPS, and this effect seems to be most important in older

151 angiogenesis are associated with the risk of HPS.

152 We present the largest consecutive series of HPS patients specifically addressing long-term survival

153 reducing pulmonary edema and the severity of HPS following ANDV infection.

154 ralizing antibody titers and the severity of HPS, the exact nature of serologic responses and their a

155 We performed ultrastructural studies of HPS-5 melanocytes revealing predominantly early-stage me

156 pe 3 (HPS-3) is a relatively mild subtype of HPS with minimal cutaneous and ocular depigmentation.

157 es the angiogenesis, reduces the symptoms of HPS, and downregulates VEGF-A mediated pathways.

158 angiogenic factors, and reduced symptoms of HPS.

159 erial oxygen (PaO2 ) obtained at the time of HPS diagnosis.

160 t associated with PaO2 levels at the time of HPS diagnosis.

161 this model will advance our understanding of HPS pathogenesis and will greatly facilitate research to

162 intestinal failure who are life dependent on HPS, the taurolidine-citrate-heparin catheter lock demon

163 anocytes, but it was not altered in HPS-1 or HPS-2 melanocytes.

164 01), but no difference was found for overall HPS, even though a strong trend was noticed (P = 0.051).

165 alescent FFP shows promise as a postexposure HPS prophylactic.

166 ore, we report characterization of potential HPS inhibitors: specifically, two related transition sta

167 the value of the k(cat) for the promiscuous HPS activity was increased as much as 170-fold (for the

168 Interestingly, the promiscuous HPS reaction catalyzed by KGPDC can be significantly enh

169 n fibroproliferation, which together promote HPS fibrosis.

170 Based on a review of over 1000 published HPS and POPH articles identified via a MEDLINE search (1

171 ts on the liver transplant waitlist received HPS exception points.

172 rence.Forty-one high-risk patients receiving HPS followed in a tertiary HPS unit were randomly assign

173 rapeutic evaluation for efficacy in reducing HPS disease.

174 highly lethal disease that closely resembles HPS in humans.

175 umoniae culture, lung histopathologic score (HPS), BAL cytokine concentrations determined by enzyme-l

176 moniae culture, lung histopathologic scores (HPS), BAL cytokine concentrations determined by enzyme-l

177 tural illumination and high-pressure sodium (HPS) lamps (16-h; PPFD-170 mumol m(-2)s(-1)) during diff

178 Some HPS patients develop other complications such as granulo

179 e etiology of hypertrophic pyloric stenosis (HPS).

180 aride Saccharomyces cerevisiae yeast strain (HPS) and another conventional yeast strain (FERM) on the

181 d with this condition, resulting in subtypes HPS-1 through HPS-8.

182 dity and mortality in patients with subtypes HPS-1 and HPS-4, which both result from defects in bioge

183 e who are receiving home parenteral support (HPS), catheter-related bloodstream infections (CRBSIs) i

184 emplifies hysteretic photochromic switching (HPS) between two configurations, Eu0 and Eu1(Mg), of the

185 Hepatopulmonary syndrome (HPS) affects 10%-30% of patients with cirrhosis and port

186 Hepatopulmonary syndrome (HPS) affects 10%-30% of patients with cirrhosis and port

187 ng in experimental hepatopulmonary syndrome (HPS) after common bile duct ligation (CBDL).

188 rimental and human hepatopulmonary syndrome (HPS) and in the management of HPS, particularly regardin

189 ascular disorders, hepatopulmonary syndrome (HPS) and portopulmonary hypertension (POPH) may occur as

190 Patients with hepatopulmonary syndrome (HPS) are prioritized for liver transplantation (given ex

191 remodeling during hepatopulmonary syndrome (HPS) development.

192 the development of hepatopulmonary syndrome (HPS) in rats.

193 Hepatopulmonary syndrome (HPS) is a pulmonary vascular disorder occurring as a con

194 s in patients with hepatopulmonary syndrome (HPS), a disease which is characterized by coupled abnorm

195 Hepatopulmonary syndrome (HPS), defined as intrapulmonary vasodilation, occurs in

196 een characterized: hepatopulmonary syndrome (HPS), portopulmonary hypertension (POPH), and hepatic hy

197 diseases such as Hermansky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS).

198 rda et al use the Hermansky-Pudlak syndrome (HPS) as a model to show that adenosine 5'-diphosphate (A

199 as those seen in Hermansky-Pudlak syndrome (HPS) cause excessive bleeding, but little is known about

200 Hermansky-Pudlak syndrome (HPS) comprises a group of inherited disorders caused by

201 nts with forms of Hermansky-Pudlak syndrome (HPS) containing defects in trafficking steps governed by

202 Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogene

203 Hermansky-Pudlak syndrome (HPS) is a family of recessive disorders of intracellular

204 Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by defects in t

205 The Hermansky-Pudlak syndrome (HPS) is a genetic hypopigmentation and bleeding disorder

206 Hermansky-Pudlak syndrome (HPS) is a group of disorders characterized by the malfor

207 Hermansky-Pudlak syndrome (HPS) is a human disease characterized by partial loss of

208 Hermansky-Pudlak syndrome (HPS) is a rare genodermatosis characterized by oculocuta

209 Hermansky-Pudlak syndrome (HPS) is an autosomal recessive condition characterized b

210 Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized b

211 Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, bleedi

212 age deficiency in Hermansky-Pudlak Syndrome (HPS) platelets, and the potential of this method to reve

213 characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a la

214 nderlie a form of Hermansky-Pudlak syndrome (HPS), a disorder characterized by abnormalities in lysos

215 Hermansky-Pudlak syndrome (HPS), a genetic cause of ILD in early adulthood, allows

216 ps33a gene causes Hermansky-Pudlak Syndrome (HPS)-like-symptoms in the buff (bf) mouse mutant.

217 s are features of Hermansky-Pudlak Syndrome (HPS).

218 Hantavirus pulmonary syndrome (HPS) and hemorrhagic fever with renal syndrome (HFRS) ar

219 man diseases: hantavirus pulmonary syndrome (HPS) and hemorrhagic fever with renal syndrome (HFRS).

220 highly lethal hantavirus pulmonary syndrome (HPS) characterized by hypoxia, thrombocytopenia, and vas

221 auses a fatal hantavirus pulmonary syndrome (HPS) in humans and Syrian hamsters.

222 me (HFRS) and hantavirus pulmonary syndrome (HPS) in humans.

223 nant cause of hantavirus pulmonary syndrome (HPS) in South America and the only hantavirus known to b

224 mary cause of hantavirus pulmonary syndrome (HPS) in the United States.

225 Hantavirus pulmonary syndrome (HPS) is a severe respiratory disease characterized by pu

226 Hantavirus pulmonary syndrome (HPS) is a severe respiratory disease which is thought to

227 Hantavirus pulmonary syndrome (HPS) is an acute disease resulting from infection with a

228 s that causes hantavirus pulmonary syndrome (HPS) predominantly in North America.

229 physiology of hantavirus pulmonary syndrome (HPS) remains unclear because of a lack of surrogate dise

230 causes lethal hantavirus pulmonary syndrome (HPS)-like disease in hamsters, SNV infection is short-li

231 me (HFRS) and hantavirus pulmonary syndrome (HPS).

232 humans termed hantavirus pulmonary syndrome (HPS).

233 me (HFRS) and hantavirus pulmonary syndrome (HPS).

234 edema termed hantavirus pulmonary syndrome (HPS).

235 mans known as hantavirus pulmonary syndrome (HPS).

236 humans termed hantavirus pulmonary syndrome (HPS).

237 Hamartomatous polyposis syndromes (HPS) account for a small but appreciable proportion of i

238 dentified halimadienyl-diphosphate synthase (HPS; EC 5.5.1.16).

239 version 2 for use with the High Pure system (HPS/CTM v2).

240 atients receiving HPS followed in a tertiary HPS unit were randomly assigned in a double-blinded, pla

241 ly with Roche High Pure TaqMan HCV 2.0 test (HPS) were compared to those tested retrospectively with

242 Taken together, these data imply that HPS treatment strategies aimed at preventing virus repli

243 The HPS gene products are involved in the biogenesis of spec

244 The HPS wines exhibited better sensory characteristics than

245 The HPS yeast released higher amounts of polysaccharides dur

246 zing a low level of the HPS reaction and the HPS from Methylomonas aminofaciens catalyzing a signific

247 nges in EC miRNAs following infection by the HPS-causing Andes hantavirus (ANDV).

248 h patients should not be assumed to have the HPS-1 subtype typical of northwest Puerto Rican patients

249 FVIII-RAg were significantly elevated in the HPS models, indicating active angiogenesis, which was al

250 F-kappaB were significantly elevated, in the HPS models.

251 PLDN is mutated in the HPS mouse model pallid and encodes the protein pallidin,

252 because of an inactivating frameshift in the HPS-encoding gene.

253 sgenic epithelial-specific correction of the HPS defect significantly attenuated bleomycin-induced al

254 , suggesting that the appropriateness of the HPS exception policy should be reassessed.

255 cherichia coli catalyzing a low level of the HPS reaction and the HPS from Methylomonas aminofaciens

256 Although the mechanism of the HPS-catalyzed reaction has not yet been investigated, it

257 The growth-inhibitory effect of the HPS-ODNs was gene-specific.

258 alectin-3 colocalized predominantly with the HPS-5 component of BLOC-2 in normal human melanocytes.

259 rvival at 1, 3, and 5 years post-LT in those HPS patients transplanted after January 1 2002 (n = 28)

260 errin, and cKit were unaffected in all three HPS genotypes.

261 s in the genes responsible for HPS-1 through HPS-6 and found no functional mutations in 38 individual

262 ndition, resulting in subtypes HPS-1 through HPS-8.

263 Whether CO contributes to HPS in humans is unknown.

264 eous findings were due to CD or secondary to HPS.

265 ccines or specific drugs to prevent or treat HPS, and the pathogenesis is not understood.

266 Unlike HPS or CHS genes, it has no apparent effect on other lys

267 21 genes were significantly associated with HPS after adjustments for race and smoking.

268 iation in CAV3 and RUNX1 was associated with HPS in gene-based analyses.

269 the massive vascular leakage associated with HPS is poorly understood; however, dysregulation of comp

270 the massive vascular leakage associated with HPS is poorly understood; however, T cell immunopatholog

271 3 and display clinical signs associated with HPS, including pulmonary edema.

272 icantly lower among waitlist candidates with HPS exception points than those without (hazard ratio =

273 oxygen gradient was higher in patients with HPS ( P < .001).

274 Patients with HPS (defined as an increased alveolar-arterial oxygen gr

275 In addition, patients with HPS also had a significantly increased risk of death com

276 Seventy-two patients with HPS and 146 patients without HPS were compared.

277 s inflammation in the bowel of patients with HPS can be indistinguishable clinically and histological

278 n and waitlist mortality among patients with HPS exception points.

279 Patients with HPS had a mean partial pressure of arterial oxygen (PaO(

280 Patients with HPS had worse New York Heart Association functional clas

281 : 0.70-0.96), possibly because patients with HPS have a reduced risk of pre-transplantation mortality

282 ncer predisposition syndromes; patients with HPS have an increased risk for colon and extracolonic ma

283 suggest a strategy to stratify patients with HPS into two categories--those who are oxygen-responsive

284 ation and waitlist survival in patients with HPS Model for End-Stage Liver Disease exception points,

285 G antibody titers in surviving patients with HPS suggests that production of SNV-specific IgG may be

286 e between the groups; however, patients with HPS were less likely to have a history of smoking (P = .

287 We first screened all our patients with HPS-like symptoms for mutations in the genes responsible

288 Pugh score, which was lower in patients with HPS.

289 st-transplantation outcomes of patients with HPS.

290 lungs were significantly higher in rats with HPS than controls.

291 ssues were significantly higher in rats with HPS.

292 hemokine levels in a cohort of subjects with HPS and healthy control subjects and correlated the resu

293 rkedly elevated in a subset of subjects with HPS who had ILD but not subjects without lung disease or

294 iomarker for outcome of ILD in subjects with HPS.

295 survival times of patients with and without HPS.

296 risk of death compared with patients without HPS despite adjustment for age, sex, race/ethnicity, Mod

297 between HPS patients and 77 patients without HPS matched for liver disease cause, model for end-stage

298 o patients with HPS and 146 patients without HPS were compared.

299 rtain domains compared with patients without HPS.

300 sodilation) were compared with those without HPS in terms of demographics and clinical variables.