ライフサイエンスコーパス: HPS

1 HPS and POPH have major clinical implications for liver

2 HPS and TMAO did not affect LDH protein structure.

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

4 HPS independently increases mortality, regardless of the

5 HPS is a genetically heterogeneous disorder of intracell

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

7 HPS Model for End-Stage Liver Disease exception patients

8 HPS patients displayed a multifaceted, systemic inflamma

9 HPS patients exhibited increased serum levels of markers

10 HPS patients have oculocutaneous albinism, bruising, and

11 HPS proteins are part of multi-subunit complexes involve

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 defined as an alveolar-arterial gradient >=15 mm

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

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

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

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

21 3 is depleted in mouse platelets from 2 of 3 HPS models and, when expressed ectopically in melanocyte

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

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

24 LT was accomplished in 49 HPS patients.

25 linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous a

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

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

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

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

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

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

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

33 between centers in estimates of survival and HPS dependency often reflect differences in population c

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

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

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

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

38 therefore, a regulatory interaction between HPS assembly and T4P activity.

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

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

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

42 ical samples from 81 patients with confirmed HPS.

43 of <96% had higher sensitivity for detecting HPS with PaO(2) <60 mm Hg (71%; 95% CI, 38%-100%) but wa

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

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

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

47 , which together with our recently developed HPS model for protein LLPS, allows us to capture the fac

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

49 or c-statistic) for SpO(2) in discriminating HPS was 0.59 (95% CI, 0.51-0.66).

50 The c-statistic of SpO(2) in discriminating HPS with a partial pressure of oxygen (PaO(2) ) <60 mm H

51 ibute to edematous fluid accumulation during HPS.

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

53 higher if patients were only followed during HPS treatment, compared with follow-up regardless of HPS

54 , as a result, capillary permeability during HPS.

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

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

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

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

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

60 scular monocyte accumulation in experimental HPS.

61 naling and lung angiogenesis in experimental HPS.

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

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

64 For HPS dependency, bowel anatomy was significantly associat

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

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

67 rval [CI], 16.6%-25.2%) met the criteria for HPS.

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 eening characteristics of pulse oximetry for HPS.

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

74 is not sufficiently sensitive to screen for HPS in LT candidates.

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

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

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

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 Here we demonstrate that in humans, HPS proteins have a high renal expression with active tr

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

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

86 the formation of insulin-producing cells in HPS from both non-diabetic and type 2 diabetic donors.

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

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

89 light on retinal neurodevelopment defects in HPS-7.

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

91 underestimated relevance of renal disease in HPS.

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

93 preserved endocrine and exocrine function in HPS for at least 10 days after sectioning.

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

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

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

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

98 e secretion might contribute to pathology in HPS.

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 Ninety-three ANDV-infected HPS patients, of whom 34 had a fatal outcome, were retro

108 n nonmalignant SBS-IF patients who initiated HPS were 89.1% for those aged younger than 40 y, 74.8% f

109 ead person to person and cause highly lethal HPS in immunocompetent hamsters.

110 d person to person and cause a highly lethal HPS-like disease in Syrian hamsters.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

127 lso had a genetically confirmed diagnosis of HPS.

128 e required in LT candidates for diagnosis of HPS.

129 The genes involved in assembly and export of HPS are largely undefined, and it has been hypothesized

130 Moreover, reduced expression of HPS proteins in zebrafish recapitulates other important

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

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

133 LDN in a boy with characteristic features of HPS.

134 onsidered among the typical skin findings of HPS.

135 ulture, suggesting that impaired function of HPS proteins could directly impact renal function.

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

137 fish model to study the renal involvement of HPS proteins in proteinuric kidney disease.

138 Remarkably, knockdown of HPS genes in zebrafish causes glomerular injury with ede

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

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

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

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

143 disease pathogenesis in the hamster model of HPS.

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

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

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

147 a fatality rate of 40%, the pathogenesis of HPS is poorly understood and factors associated with sev

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

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

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

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

152 ssential for both motility and production of HPS.

153 tment, compared with follow-up regardless of HPS treatment.

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

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

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

157 angiogenesis are associated with the risk of HPS.

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

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

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

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

162 angiogenic factors, and reduced symptoms of HPS.

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

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

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

166 The 5-y cumulative incidence of weaning off HPS was overestimated by 4.4% when inappropriately using

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

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

169 of an associated hormogonium polysaccharide (HPS).

170 alescent FFP shows promise as a postexposure HPS prophylactic.

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

172 n fibroproliferation, which together promote HPS fibrosis.

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

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

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

176 rapeutic evaluation for efficacy in reducing HPS disease.

177 highly lethal disease that closely resembles HPS in humans.

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

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

180 Some HPS patients develop other complications such as granulo

181 e etiology of hypertrophic pyloric stenosis (HPS).

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

183 (LDH), against hydrostatic pressure stress (HPS).

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

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

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

187 , who are receiving home parenteral support (HPS), variations between centers in estimates of surviva

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

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

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

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

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

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

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

195 remodeling during hepatopulmonary syndrome (HPS) development.

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

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

198 Screening for hepatopulmonary syndrome (HPS) using pulse oximetry is recommended in liver transp

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

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

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

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

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

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

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

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

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

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

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

210 Hermansky-Pudlak Syndrome (HPS) is a rare disease caused by mutations in the genes

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

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

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

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

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

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

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

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

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

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

221 (ANDV) causes hantavirus pulmonary syndrome (HPS) and is the only hantavirus shown to spread person t

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

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

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

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

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

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

228 Hantavirus pulmonary syndrome (HPS) is caused by Andes virus (ANDV) and related hantavi

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

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

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

232 me (HFRS) and 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 simple desktop to a High-Performance System (HPS).

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

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

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

243 undefined, and it has been hypothesized that HPS exits the outer membrane via an atypical T4P-driven

244 This implies that HPS may be secreted through a more canonical pathway, ra

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

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

247 The HPS wines exhibited better sensory characteristics than

248 The HPS yeast released higher amounts of polysaccharides dur

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

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

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

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

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

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

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

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

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

258 urther taking advantage of the fact that the HPS model maintains sequence specificity we explore the

259 ell studied in experiments and also with the HPS model previously.

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

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

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

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

264 tro, LDH with or without TMAO was exposed to HPS and was evaluated using fluorescence correlation spe

265 y system and protects cardiac LDH exposed to HPS produced by the contracting heart.

266 In vitro, exposure of LDH to HPS with or without TMAO did not affect protein structur

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

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

269 by mutations in the genes coding for various HPS proteins.

270 21 genes were significantly associated with HPS after adjustments for race and smoking.

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

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

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

274 3 and display clinical signs associated with HPS, including pulmonary edema.

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

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

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

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

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

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

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

282 : 0.70-0.96), possibly because patients with HPS have a reduced risk of pre-transplantation mortality

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

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 st-transplantation outcomes of patients with HPS.

289 ins unstudied and untreated in 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 ception points may be afforded to those with HPS and severe hypoxemia.

296 survival times of patients with and without HPS.

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

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.