ライフサイエンスコーパス: NPD

1 NPD risk was estimated using a case-control comparison o

2 SM plasma activities in NPD patients (N=19), NPD carriers (N=11), and normal subjects (N=15) were 2.5

3 iscovery of a R(4)-substituted analogue 31c (NPD-3519), showing higher in vitro potency (pIC(50) 7.8)

4 3DEM-NPD provides unbiased visualization and quantification o

5 Here, we developed 3DEM-NPD, a three-dimensional electron microscopy (3D EM) mac

6 The 3DEM-NPD method allowed us to establish a metric to quantify

7 ere neurodegeneration associated with Type A NPD.

8 el shifts and enhanced conductivity in alpha-NPD:1% Mo(tfd)(3).

9 of a standard hole transport material (alpha-NPD) is demonstrated via measurements of Fermi level shi

10 An NPD model captures the essential factors for the evoluti

11 predicting a certain liability to develop an NPD (e.g., autism, intellectual disability, psychosis et

12 +/- 49.1 vs 248.5 +/- 156.6 (P = 0.005), and NPD (%) was 0.97 +/- 0.82 vs 7.09 +/- 5.99 (P < 0.001) i

13 High ED and NPD values accentuate regions of inadequate perfusion.

14 Vascular density, ED, and NPD were better in optic nerve head sectors than in temp

15 Vascular density, ED, and NPD were worse in glaucomatous compared to healthy eyes

16 As both EO and NPD are heritable central nervous system disorders, we a

17 ssues and fluids from normal individuals and NPD patients.

18 tissues and plasma of normal individuals and NPD patients.

19 ssues and fluids from normal individuals and NPD patients.

20 Vascular density, ED(avg), ED(max), and NPD RESULTS: Forty glaucomatous and twenty-five healthy

21 g and diagnosing pathological narcissism and NPD, in addition to specific traits.

22 plasma and tissues obtained from normal and NPD mice and humans.

23 s determined the prevalence, penetrance, and NPD risk of pathogenic single-gene variants in a large h

24 ere identified through exome sequencing, and NPD penetrance was calculated using preselected EHR diag

25 K in X-ray and neutron diffraction (XRD and NPD), indicative of a monoclinic distortion induced by a

26 reover, SpO2 correlated with ENaC-associated NPD positively in patients only, but apparently related

27 of Niemann-Pick disease (i.e. Types A and B NPD).

28 that, unlike the type A form of NPD, type B NPD does not occur frequently within this population.

29 omyelin levels in plasma from several Type B NPD patients also was significantly elevated compared to

30 omyelin levels in plasma from several type B NPD patients also were significantly elevated compared t

31 an effective therapeutic approach for Type B NPD, but is unlikely to prevent the severe neurodegenera

32 consistent with a less severe form of type B NPD, whereas the H421Y and K576N mutations led to an ear

33 Basal NPD was significantly associated with amiloride-resistan

34 on genetic liability for NPD outcomes before NPD symptoms emerge.

35 nfirmed by the opposite associations between NPD values and altitude, which had a negative regression

36 of maternal normal protein diet (18% casein; NPD) or isocaloric low protein diet (9% casein; LPD) res

37 iency enhances SINV replication, we compared NPD-A fibroblasts (NPAF) to normal human fibroblasts (NH

38 on pathogenic variants in 94 high-confidence NPD genes were identified through exome sequencing, and

39 age of 14-15 increases the risk of consuming NPD/NPD by more than 26 times (odd ratio 26.3012; 95% CI

40 , but apparently related to CFTR-contributed NPD level inversely.

41 ressive disorder (MDD) and matched controls (NPD).

42 The Nuclear Protein Database (NPD) is a curated database that contains information on

43 utant alleles in patients with ASM-deficient NPD and in carriers influences the disease phenotype.

44 ivity and clinical features of ASM-deficient NPD.

45 ication on the presentation of ASM-deficient NPD.

46 imum ED (ED(max)), and nonperfusion density (NPD).

47 and specificities of the New Peak Detection (NPD) feature, and comparisons to conventional methods.

48 New peak detection (NPD) is a significant component of the multiattribute me

49 y method to detect ASM activity and diagnose NPD using the fluorescent substrate BODIPY C12-SPM and r

50 rth weights compared to normal-protein diet (NPD) offspring.

51 re fed either a control normal protein diet (NPD; 18% protein) or an isocaloric low protein diet (LPD

52 Nasal potential difference (NPD) response patterns and sweat chloride concentrations

53 Nasal potential difference (NPD), a well-established in vivo clinical test for cysti

54 measurement and neutron powder diffraction (NPD) experiment.

55 fraction (SXPD), neutron powder diffraction (NPD), quasielastic neutron scattering (QENS), and molecu

56 e show that the n-player prisoner's dilemma (NPD) is also central to two other prominent theories of

57 ly associated with neuropsychiatric disease (NPD).

58 Types A and B Niemann-Pick disease (NPD) are inherited multisystem lysosomal storage disorde

59 Type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders due to the deficient ac

60 type A and B forms of Niemann-Pick disease (NPD) are lipid storage disorders due to the deficient ac

61 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from loss

62 Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from the

63 Niemann-Pick disease (NPD) is a lysosomal storage disease caused by the loss o

64 Niemann-Pick disease (NPD) is caused by the loss of acid sphingomyelinase (ASM

65 Types A and B Niemann-Pick disease (NPD) result from the deficient activity of the lysosomal

66 historically known as Niemann-Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potent

67 ngomyelinase-deficient Niemann Pick disease (NPD), and postmortem LSD patients' brains, all compared

68 Type A and B forms of Niemann-Pick disease (NPD).

69 somal storage disorder Niemann-Pick disease (NPD).

70 cient in types A and B Niemann-Pick disease (NPD).

71 sults in Types A and B Niemann-Pick disease (NPD).

72 4 patients with type B Niemann-Pick disease (NPD).

73 storage disease type A Niemann-Pick disease (NPD-A), mimicked in mice by interruption of the ASMase g

74 posal for narcissistic personality disorder (NPD), and highlight some of the advantages of introducin

75 e and map single nanoparticle distributions (NPD) in tissues.

76 ently described nodule-specific PLAT domain (NPD) gene family, we show how inoculating plants with a

77 tive substances (NSP) / non prescribed drug (NPD) in a student population in the north-west of Italy

78 ic hypoxia is characterized by dysfunctional NPD.

79 re and nitrogen phosphorus detection (GC-ECD/NPD) has been developed and validated for the screening

80 , we generated offspring derived from either NPD or LPD sperm (devoid of seminal plasma) but in the p

81 We examined NPD function using CRISPR/Cas9 multiplex genome editing

82 la NPD knockout lines, targeting one to five NPD genes.

83 ese findings have important implications for NPD enzyme replacement therapy, particularly in the lung

84 are presented based on genetic liability for NPD outcomes before NPD symptoms emerge.

85 e Tc-Tc bond was found to be 2.622(1) A from NPD profile analysis and 2.59 A from first-principles DF

86 and tissues from normal individuals and from NPD mice and patients.

87 it was refined in the C2/m space group from NPD data collected at room temperature.

88 , the mean ASM activity in human plasma from NPD carriers (258.3 pmol/ml/h) also was significantly re

89 The mean ASM activity in human plasma from NPD patients (36 pmol/ml/h) was only 2.7% of that in nor

90 ingomyelin in plasma, urine, or tissues from NPD patients and mice.

91 ed gas chromatographic method (GC-ECD and GC-NPD) was used to determine the fungicides residues, the

92 matography-nitrogen phosphorus detection (GC-NPD).

93 content in adult homozygous or heterozygous NPD mouse plasma and urine was significantly elevated co

94 adult homozygous (-/-) or heterozygous (+/-) NPD mouse plasma was significantly elevated compared to

95 In the discovery cohort (high NPD prevalence: 77%), the cumulative PTV/CNV allele freq

96 sed on our previously reported optimized hit NPD-2975 (pIC(50) 7.2).

97 The ranges of ASM plasma activities in NPD patients (N=19), NPD carriers (N=11), and normal sub

98 Thus, transcytosis-related alterations in NPD and likely other LSDs may impact therapeutic access

99 , providing similar NC brain distribution in NPD vs. control mice.

100 s) in genes/regions previously implicated in NPD in adults with EO (n = 149) referred for weight loss

101 sensitivity and minimize false positives in NPD.

102 In the UCLH EO cohort (intermediate NPD prevalence: 47%), CNV AF (1.8% vs. 0.9% in control s

103 Lastly, NPD mutations disrupt a positive correlation between str

104 for similar studies in sexually mature, male NPD patients.

105 Because ASMase-knock-out mice models NPD and our previous findings revealed that ASMase activ

106 iated with ASM deficiency, and present a new NPD model amenable to genetic and pharmacological screen

107 ere identified in the Swedish cohort with no NPD.

108 odds ratio 3.68, 95% CI 3-4.4, P<0.0001; NPS/NPD: odds ratio 20.98, 16.4-38.4, P<0.0001).

109 onsumption, cigarette smoking, cannabis, NPS/NPD, psychological path).

110 on >2 alcoholic units (AUs) on one occasion, NPD increases the probability of the need for a psycholo

111 ing the ASM-deficient mouse model (ASMKO) of NPD, we evaluated the efficacy of enzyme replacement the

112 Purkinje cell loss that is characteristic of NPD, although the protective effect declined with distan

113 Mutant lines with differing combinations of NPD gene inactivations had progressively smaller nodules

114 could be a useful tool for the diagnosis of NPD and the evaluation of NPD treatment protocols, as we

115 simple source for the accurate diagnosis of NPD patients and carriers based on ASM activity.

116 rtant role in the strain-specific effects of NPD genes.

117 These changes indicate that the effects of NPD proteins are strain dependent and that NPD family me

118 r the diagnosis of NPD and the evaluation of NPD treatment protocols, as well as for the study of cer

119 h, revealing that, unlike the type A form of NPD, type B NPD does not occur frequently within this po

120 Respiratory dysfunction is a key hallmark of NPD, yet the mechanism for this is underexplored.

121 We have used a knockout mouse model of NPD (ASMKO mice) to evaluate the effects of direct intra

122 issue and sperm in a knockout mouse model of NPD and demonstrate the importance of ASM for normal spe

123 ncoding human ASM (hASM) in a mouse model of NPD.

124 eral aspects of the respiratory pathology of NPD.

125 ession of CtsB may underlie the phenotype of NPD.

126 id of seminal plasma) but in the presence of NPD or LPD seminal plasma (devoid of sperm).

127 etiological explanation for the presence of NPD phenotypes to also identifying young individuals at

128 rations to synaptic networks and products of NPD risk genes.

129 accumulated sphingomyelin in the tissues of NPD mice was 4 to 15 times higher than that in normal mi

130 accumulated sphingomyelin in the tissues of NPD mice was 4 to 40 times higher than that in normal mi

131 Treatment of NPD cell lines with 5-aza-2'-deoxycytidine enhanced the

132 that hinders translational understanding of NPD pathogenesis.

133 those from 31 previously reported pathogenic NPD CNVs.

134 fication of the 5-phenylpyrazolopyrimidinone NPD-2975 led to the discovery of a R(4)-substituted anal

135 ass spectrometry (MS), nitrogen phosphorous (NPD), flame photometric (FPD) detectors, as well as gas

136 After mating, all females received NPD for the remainder of gestation and all offspring wer

137 In this study, we have developed a robust NPD and identification method to enhance sensitivity 10-

138 genomic loci increase the risk for the same NPD and why a single CNV increases the risk for a divers

139 ns or alterations in the amiloride-sensitive NPD.

140 ely conferred a substantial risk for several NPD diagnoses, including autism, schizophrenia, and bipo

141 Significant NPD risk remained after participants with intellectual d

142 The deletion of a single NPD gene (npd2) or all five members of the NPD gene fami

143 f NPD proteins are strain dependent and that NPD family members are not redundant with regard to thei

144 The NPD analysis also establishes a new neutron scattering l

145 The NPD results supported by the DFT calculations suggest th

146 nd demonstrate the potential of altering the NPD phenotype by these therapeutic strategies.

147 The results of the NPD along with the saturation magnetic moment (MS) and m

148 e NPD gene (npd2) or all five members of the NPD gene family (npd1-5) differentially altered the freq

149 tatistically significant improvements of the NPD response to perfusion of an isoproterenol/amiloride/

150 An integrative approach based on the NPD helps unify different perspectives on the evolution

151 oietic stem cell gene therapy (HSCGT) on the NPD phenotype.

152 ure determined by Rietveld analysis with the NPD data is of a distorted rutile type, similar to that

153 The "NPD ratio," widely used by yeast geneticists, is of limi

154 Thus, NPD provides a gateway through which the nuclear proteom

155 The new diagnostic approach to NPD can encourage a better integration of the clinicians

156 ously associated with NPD, may contribute to NPD in patients with EO.

157 promising therapeutic modality for treating NPD and suggest a potential strategy for treating diseas

158 genome editing to create Medicago truncatula NPD knockout lines, targeting one to five NPD genes.

159 To analyze whether NPD can be applied to diagnose hypoxic lung injury, we s

160 in genes/regions previously associated with NPD, may contribute to NPD in patients with EO.

161 from studies using cells from patients with NPD or from ASM knockout (ASMKO) mice, where the genetic

162 eaction sequencing for several patients with NPD revealed preferential expression of one mutant allel

163 treatment of liver fibrosis in patients with NPD.

164 ave specifically highlighted how people with NPD behave and are observed by others, and the negative

165 n of DiscovEHR participants with and without NPD diagnoses.