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1 T-cell survival (eg, vaccination and immune deficiency).
2 to infection in 3 siblings with severe G6PD deficiency.
3 fancy and arterial calcification due to CD73 deficiency.
4 le complementing enzymes in the case of APTX deficiency.
5 pression changes in LSCs caused by Tcf1/Lef1 deficiency.
6 n reduced cell viability in response to iron deficiency.
7 family member should be screened for C1-INH deficiency.
8 ant mouse models with or without adiponectin deficiency.
9 dication use and the subsequent risk of iron deficiency.
10 ctive lysosomal turnover resulting from NPC1 deficiency.
11 ed with an increased subsequent risk of iron deficiency.
12 euroendocrine features of PWS are due to PC1 deficiency.
13 edema, phenotypes associated with vitamin A deficiency.
14 s account for the clinical features of DOCK8 deficiency.
15 etardation, chronic neutropenia, and NK cell deficiency.
16 nal degeneration was similar to that of cblC deficiency.
17 ications during both erythropoiesis and iron deficiency.
18 s associated with combined pituitary hormone deficiency.
19 the same biochemical phenotype of GDP-fucose deficiency.
20 uring the initiation of colitis with miR-223 deficiency.
21 associated with early childhood respiratory deficiency.
22 cular thrombosis despite persistent ADAMTS13 deficiency.
23 he metabolic bypass of beta-hexosaminidase A deficiency.
24 ukodystrophy caused by aspartoacylase (ASPA) deficiency.
25 chondrial biogenesis is a consequence of FXN deficiency.
26 nt fractures in absence of trauma and growth deficiency.
27 gnaling pathways are restricted by the M-ILK deficiency.
28 liminated host protection conferred by Gal-1 deficiency.
29 d individuals with autosomal recessive TIRAP deficiency.
30 investigated the phenotypic effects of JAK2 deficiency.
31 e, especially that given to those at risk of deficiency.
32 -derived DCs exhibited systematic functional deficiencies.
33 inase and microtubule-associated protein Tau deficiencies.
34 of neoplastic disease with TGFbeta receptor deficiencies.
35 ning, as knockout mutants display N-fixation deficiency (25%) and increased nodular superoxide conten
36 some mutations in HCS cause holocarboxylase deficiency, a rare metabolic disorder that can be life-t
38 o 3 categories: normal (activity >50%), mild deficiency (activity = 30%-50%), and moderate-severe def
45 nylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detec
48 ets covering various stages of macronutrient deficiencies and symbiotic interactions with rhizobia an
49 These differences illuminate yield-reporting deficiencies and the value that alternative, politically
50 -/-) mice with a global MyD88, TLR7, or TLR9 deficiency and cell type-specific MyD88 deficiency to st
51 has contributed to our understanding of LOS-deficiency and compares it to studies done on Neisseria
52 h the induction of cGVHD ameliorated by BCL6 deficiency and completely suppressed by Stat3 deficiency
55 ent in individuals with type II antithrombin deficiency and identified a new antithrombin functional
56 em that often results in bottom water oxygen deficiency and in turn promotes sediment phosphorus (P)
57 resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosi
59 ce with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BC
60 uding the heart, spleen, and liver) under Cu deficiency and that subcutaneous administration of Cu to
61 To study the relationship between Merlin deficiency and tumourigenesis, we have developed an in v
62 emperatures, UV-light, drought, and nutrient deficiencies, and may contribute to tolerance to these s
64 is particularly marked in conditions of IL-2 deficiency, and, conversely, IL-2 represses Flicr expres
65 Although the hazards associated with iron deficiency anemia (IDA) are well known, concerns about r
66 en aged 9 to 48 months with nutritional iron-deficiency anemia, ferrous sulfate compared with iron po
71 ssociated with succinate dehydrogenase (SDH) deficiency are characterized by high (18)F-FDG avidity.
72 Our data suggest autosomal dominant STAT4 deficiency as a novel inborn error of IL-12-dependent IF
73 survival in vitro and compensates for IL-7R deficiency, as residual ILCs are depleted in mice lackin
75 f human growth, and show that growth hormone deficiency associated with maternally inherited gingival
77 AND We combined a model of specific antibody deficiency, B cell-specific CD79a-Cre x XBP1 (X-box bind
78 (-/-) mice did not reflect a systemic immune deficiency, because immunized IL-1R1(-/-) mice survived
81 ortant in relation to the management of iron deficiency but should also inform dietary advice, especi
82 biochemical, and behavioral effects of 2-AG deficiency by deleting its primary synthetic enzyme, dia
83 logical and functional consequences of PLAG1 deficiency by determining testicular histology, daily sp
94 gene expression patterns under severe OXPHOS deficiency comparing several mouse models, that will dee
95 that monogenic or digenic POLR3A and POLR3C deficiencies confer increased susceptibility to severe V
97 ensitive to spectrin, adducin, and nucleator deficiency, consistent with microscopy-derived models pr
98 gether, these results suggest that ribosomal deficiency contributes to impaired megakaryopoiesis in m
99 e proportion of anemia with concomitant iron deficiency (defined as an inflammation-adjusted ferritin
100 mal transition and improves endothelial Fli1 deficiency-dependent vascular disintegrity, implying its
101 .Ser267Phe in SLC10A1 are prone to vitamin D deficiency, deviated sex hormones and blood lipids.
106 reover, it is increasingly evident that PTEN deficiency disrupts the fundamental processes of genetic
107 n, although conditions of glucagon excess or deficiency do not cause changes compatible with this vie
108 production via distinct mechanisms, as IL-4 deficiency does not prevent hyperproliferation or elevat
112 metal toxicant uptake and essential element deficiency during specific developmental windows increas
116 ant zebrafish lines, each resulting in Rbpr2 deficiency, exhibit a small eye defect, and systemic mal
117 ity and contractile responses, whereas CXCR4 deficiency favored a synthetic phenotype, the occurrence
118 patients without known risk factors for iron deficiency, gastric acid inhibitor use for >/=2 years wa
120 , Arabidopsis thaliana We then show that MMR deficiency greatly increases the frequency of both small
123 effecthas proved difficult to define as G6PD deficiency has multiple allelic variants with different
126 ts and showed that rats with genetic IL-22BP deficiency (Il22ra2(-/-)) displayed exacerbated disease
128 ently attenuated BMD loss caused by estrogen deficiency, improved bone turnover, promoted a favorable
129 10 papers identified all pointed out gaps or deficiencies in allergy care provision in primary care.
132 singly non-redundant roles in the cell, with deficiencies in individual enzymes leading to dissimilar
133 LMT generated cellular defects that mimicked deficiencies in mitochondrial Fe-S cluster synthesis inc
135 omal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that
141 these results strongly suggest that an early deficiency in beta-cell number in infants with CF may co
144 anscriptional activation in response to zinc deficiency in cells, suggesting a conserved pathway of l
147 ) T cells is also prevented by BCL6 or Stat3 deficiency in donor CD4(+) T cells, with the induction o
155 (FASN) suppresses toxicity induced by PINK1 deficiency in flies, mouse cells, patient-derived fibrob
160 g; (ii) transcriptomic consequences of PLAG1 deficiency in knock-out and heterozygous mice compared t
162 ing: tumor testing for mismatch repair (MMR) deficiency in Lynch syndrome establishing a new paradigm
169 careers as drivers of modern economies, this deficiency in preparation for STEM careers threatens the
170 ng-term clinical implications of vitamin B-6 deficiency in stable outpatient RTRs.In a longitudinal c
172 Interestingly, NOD/SCID mice, which have a deficiency in T, B, and NK cells, showed minimal disease
174 munity, we examined the impact of granzyme A deficiency in the NOD mouse model of autoimmune diabetes
175 , we found that drug treatments or a genetic deficiency in the thioredoxin system that increase level
181 t ALS3 cooperates with LPR1/2 to regulate Pi deficiency-induced remodeling of root architecture by mo
183 ease inhibitor used for the treatment of AAT deficiency, inhibits IBMIR and cytokine-induced inflamma
184 asizes the complex relationship between iron deficiency, iron treatment, and malaria infection in end
191 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is believed to confer protection against Plas
195 GWAS results together suggest that vitamin D deficiency is potentially causal of sero-negative RA and
197 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder in huma
198 Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red
200 ophils is the hallmark of leukocyte adhesion deficiency (LAD) syndrome in humans, characterized by im
202 ress responses and thermogenesis, and how O2 deficiency leads to metabolic reprograming in cancer.
208 ximate 20% increase in the odds of vitamin D deficiency (</=20 ng/mL) [odds ratio (95% CI): 1.19 (1.0
209 evels in pregnancy and birth weight, but B12 deficiency (<148 pmol/L) was associated with a higher ri
210 (age, anthropometric measures, micronutrient deficiencies, malaria, and inflammation) and household-l
222 SmmhcCreER(T2)- or TaglnCre-driven)-specific deficiency of CXCR4 in an apolipoprotein E-deficient mou
227 ings were observed in mice with DMH-specific deficiency of melanocortin MC4R receptors, which are kno
228 , which is central for mTEC differentiation, deficiency of p53 in TECs altered multiple functional mo
229 Spinal muscular atrophy (SMA) is caused by deficiency of SMN protein, which is crucial for spliceos
231 ls in wild-type mice and in mice with global deficiency of the Cyp27b1 gene encoding 25-hydroxyvitami
241 meric mice, we show that the impact of NKG2D deficiency on B1a cell development is cell intrinsic.
242 ls often experience, the effect of glutamine deficiency on cellular responses to DNA damage and chemo
243 te a potentially devastating impact of Disc1 deficiency on neural circuit function, partly due to Kv1
244 ls, macrophages, and fibroblasts, but IL-1R2 deficiency on neutrophils increased the IL-1-induced res
247 hether L1 expression simply highlights piRNA deficiency or actually drives the germ-cell demise.
250 iants in a gene implicated in primary immune deficiency, PLCG2, and a negative regulator of inflammat
256 ed levels of C16-ceramide, showed that CerS6-deficiency protected against the development of colitis.
257 ue to environmental insult or innate genetic deficiency, protein folding environments of the mitochon
258 , health outcomes resulting from nutritional deficiencies, quality of life, mortality, and harms of s
263 Despite its known detrimental effects, iron deficiency remains the most common micronutrient deficie
266 romoter analysis revealed the presence of Zn-deficiency-response elements (ZDREs) in a number of the
270 The 3 individuals with complete ANGPTL3 deficiency showed no evidence of coronary atheroscleroti
272 ving the replication stress induced by FANCM deficiency, simultaneous depletion of BLM and FANCM, or
274 sly reported that CD137 (encoded by Tnfrsf9) deficiency suppressed type 1 diabetes (T1D) progression
277 TLR9 deficiency and cell type-specific MyD88 deficiency to study the functional correlation between M
279 At the molecular levels, hepatic Foxo1/3/4 deficiency triggered a significant increase in the expre
280 bling, potentially fatal condition caused by deficiency (type I) or dysfunction (type II) of the C1 i
282 Patients with unilateral abdominal wall deficiency, unilateral undescended testis and female neo
284 ic patients with stage 3-4 CKD and vitamin D deficiency, vitamin D supplementation may improve vascul
289 he Fabry mice receiving SRT but not ERT, BH4 deficiency was restored, concomitant with ameliorated ca
290 In a murine model of lymphoid-specific EZH2 deficiency we found that EZH2 was required for proper de
291 arious serum sources with defined complement deficiencies, we demonstrate that, under physiologic con
293 To understand and ultimately correct this deficiency, we quantified flavor-associated chemicals in
294 Blood samples of 3 patients with severe G6PD deficiency were analyzed for G6PD enzyme activity, cellu
296 SIRT5(-/-) mice, like humans with Complex II deficiency, were found to have mild lactic acidosis.
297 us treatment and germline replication repair deficiency, which improved management of patients and fa
298 icipated outcome of homologous recombination deficiency, which triggers cell lethality and, we propos
300 identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormon
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