ライフサイエンスコーパス: deficiency

1 lly associated with homologous recombination deficiency.

2 ed replication forks in the setting of BRCA1 deficiency.

3 defects caused by maternal n-3 PUFAs dietary deficiency.

4 s aureus, consistent with a specific granule deficiency.

5 TH only among patients with severe vitamin D deficiency.

6 04 found in patients with congenital FXIII-A deficiency.

7 owth, puberty onset, and potential pituitary deficiency.

8 ion must be prescribed to avoid chronic iron deficiency.

9 and in mice with myeloid cell-specific EGFR deficiency.

10 afficking, resulting in cellular cholesterol deficiency.

11 Zap1 controls their response to zinc deficiency.

12 on for the hematopoietic features of SMARCD2 deficiency.

13 nction with the molecular diagnosis of GATA2 deficiency.

14 function such as schizophrenia or vitamin B6 deficiency.

15 ife-years worldwide are attributable to this deficiency.

16 tylgalactosamine-6-sulfate sulfatase (GALNS) deficiency.

17 on in pregnancy in areas of mild-to-moderate deficiency.

18 s extinctions have been linked to extreme Se deficiency.

19 ibutes to failing T cell development in upf1 deficiency.

20 far exceeding the effect of Pole exonuclease deficiency.

21 ency (SCID X1) and adenosine deaminase (ADA) deficiency.

22 weeks, dosed according to the extent of iron deficiency.

23 ts of genes differentially expressed under P deficiency.

24 disclosed previously undetected visual cycle deficiency.

25 ailable dietary iron sources to prevent iron deficiency.

26 rospective review of 157 patients with GATA2 deficiency.

27 basis of functional aspects in the prolidase deficiency.

28 ced enterocolitis did not recapitulate STING deficiency.

29 also attack normal B cells leading to immune deficiency.

30 llmark of Dedicator of cytokinesis 8 (DOCK8) deficiency.

31 ects in the bioenergetic impacts of tafazzin deficiency.

32 seful in treating skin inflammation in DOCK8 deficiency.

33 ase for the treatment of alpha-1 antitrypsin deficiency.

34 evelop the first viable animal model of cblC deficiency.

35 C (P < .001) but was not associated with DDR deficiency.

36 patients with suspected intrinsic sphincter deficiency.

37 rve placental iron in the face of fetal iron deficiency.

38 ic, we generated mice with conditional IRF-1 deficiency.

39 or VD metabolism, contributes partly to this deficiency.

40 and exhibit sensorimotor and motor learning deficiencies.

41 gluten-free diet who often represent mineral deficiencies.

42 d the development of learning and behavioral deficiencies.

43 als and the associated structural/functional deficiencies.

44 ranscriptome annotation that addresses these deficiencies.

45 models that carry certain DNA damage repair deficiencies.

46 isorders with devastating neurodevelopmental deficiencies.

47 effect on anthropometry or iron or vitamin A deficiencies.

48 terogeneity is further elevated due to Pitx2 deficiency: 1) Electrical heterogeneity between left and

49 atients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome,

50 rition or hidden hunger due to micronutrient deficiencies affects about one third of the world popula

51 d not affect skin disease development, IL-22 deficiency aggravated the PsA-like disease in K23 mice.

52 In addition, NFATc2 deficiency almost completely abrogates the expression of

53 e show that at 1 month postinfection, B cell deficiency alone enhanced resistance to splenic infectio

54 Ena/VASP-deficiency also impaired integrin-mediated adhesion acco

55 BCAP deficiency also results in defective aerobic glycolysis

56 Here, we report that MIWI deficiency alters meiotic kinetochore assembly, signific

57 In the auditory system, FMRP deficiency alters neuronal function and synaptic connect

58 level showed increased tolerance to glucose deficiency among the studied melanoma phenotypes.

59 Iron deficiency anaemia (IDA) is a common nutritional disorde

60 netic defect, including other primary immune deficiencies and inborn errors of metabolism.

61 one FMRE in human cells caused proliferative deficiencies and transcriptional deregulation of cancer

62 synthetic lethal interaction between PPP2R2A deficiency and ATR or CHK1 inhibition was observed in NS

63 ors are specifically vulnerable to cyclin D1 deficiency and CDK4 inhibition, suggesting that the obes

64 ause lysosomal beta-galactosidase (beta-Gal) deficiency and clinical onset of the neurodegenerative l

65 nt in patients with thymidine kinase 2 (TK2) deficiency and compared it to FGF-21.

66 The causes of this major deficiency and consequences thereof are so far not well

67 iagnosis of plant stresses, such as nutrient deficiency and drought, before the onset of visible symp

68 responses with a specially developed immune deficiency and dysregulation activity score, reflecting

69 Immune deficiency and dysregulation activity scores were signif

70 oblasts isolated from DPs as models for PDK4 deficiency and have shown activation of the intrinsic (m

71 Obese children are vulnerable to vitamin D deficiency and impaired cardiovascular health; vitamin D

72 pha-defensin dysfunction is mediated by zinc deficiency and involved in the pathogenesis of AH.

73 rtment and found a clear link between parkin deficiency and lysosomal alterations.

74 umorigenic microenvironment induced by NCOA5 deficiency and metformin prevents HCC development via al

75 Given the established link between perforin deficiency and primary HLH, we investigated the role of

76 CHO-MG cells present polyamine uptake deficiency and resistance to a toxic polyamine biosynthe

77 these results show the broad impact of PDK4 deficiency and reveal mechanistic pathways used by these

78 ctively reduces the degree of surface iodine deficiency and stabilizes iodine ions via the formation

79 hat prevent apoptosis of in cells with TTC7A deficiency and tested their effects in an animal model o

80 vide the second description of human SMARCD2 deficiency and the first functional analysis of human pr

81 Selenium (Se) deficiency and toxicity affect over a billion people wor

82 underlying causes, correction of nutritional deficiencies, and the administration of antibiotics.

83 5 patients aged 18 years and older with iron-deficiency anemia (hemoglobin level <=11 g/dL; serum fer

84 al biomarkers used for the diagnosis of iron-deficiency anemia (IDA) in patients with CKD have limita

85 In 2 randomized trials of patients with iron-deficiency anemia who were intolerant of or unresponsive

86 Acute cardiorespiratory responses to O(2) deficiency are essential for physiological homeostasis.

87 on in pregnancy in areas of mild-to-moderate deficiency are well researched, such supplementation is

88 We defined mild-to-moderate iodine deficiency as a baseline median urinary iodine concentra

89 ory cancers (2.0% of those screened) had MMR deficiency as defined in NCI-MATCH.

90 hocyte populations as in other models of AID deficiency as well as increased populations of CD73(+) B

91 particularly relevant for people with immune deficiencies, as their health depends on treatment with

92 or several of the most severe primary immune deficiencies, as well as other inherited disorders.

93 id immunosuppressive therapy, immunoglobulin deficiency, asplenia, and/or other rare conditions.

94 We showed that TRAF3 deficiency-associated autoimmune phenotypes can be recti

95 with a low prevalence of profound vitamin D deficiency at baseline.

96 Surprisingly, B cell-specific IRF-1 deficiency attenuated the establishment of chronic infec

97 ling and defective cell differentiation, Etv deficiency augmented ERK phosphorylation without disrupt

98 3 (synaptosome-associated protein of 23 kDa) deficiency blocks the activation of macroautophagy, lead

99 oedema (HAE) comprises HAE with C1-inhibitor deficiency (C1-INH-HAE) and HAE with normal C1-INH activ

100 is pattern appears to be driven by energetic deficiencies caused by responses to environmental extrem

101 The immune deficiency caused by the Pdia6 mutation was, with the ex

102 Pancreatic Bap1 deficiency causes acinar atrophy but combines with oncog

103 strate that plasmanylethanolamine desaturase deficiency causes an accumulation of plasmanyl species,

104 Klotho deficiency causes cardiac aging via impairing the Nrf2-G

105 HDAC1 deficiency causes impaired OGG1 activity, 8-oxoG accumul

106 Vitamin D deficiency causes pro-inflammatory macrophage infiltrati

107 Seipin deficiency causes severe congenital generalized lipodyst

108 Taken together, our data imply that Col6a2 deficiency causes trabecular bone loss by enhancing oste

109 enes were upregulated in leucaena under iron-deficiency condition or when Fe(III) was supplied as a F

110 ossibilities to improve adaptation to sulfur-deficiency conditions.

111 rical and structural remodelling under Pitx2 deficiency conditions.

112 2D is a lung tumor suppressor and that KMT2D deficiency confers a therapeutic vulnerability to glycol

113 3aR) signaling abrogates disease despite DAF deficiency, confirming complement dependence.

114 Asm deficiency could induce higher numbers of T(H) 2 cells i

115 interaction profiles of APE2, APE1, and TDP1 deficiency coupled to biochemical and structural dissect

116 Although IL-22 deficiency did not affect skin disease development, IL-2

117 on ~100-fold; however, combined B and T cell deficiency did not impact bacterial burden, indicating t

118 Lyz1-deficiency diminished intestinal immune responses to bac

119 hich may advance our understanding of immune-deficiency diseases.

120 and the genotypic spectrum of congenital NAD deficiency disorders and further implicate mutation of a

121 abetes mouse models and liver-specific Prmt1 deficiency drastically ameliorated diabetic hyperglycemi

122 Combined immune deficiency due to athymia in patients with complete DiGe

123 TNIK-deficiency during T cell activation results in enhanced

124 orts to prevent, detect, and treat vitamin D deficiency, especially in newborn babies, women, and urb

125 n-anemic repeat adult blood donors with iron deficiency (ferritin <= 50 ug/L).

126 mutant RB fragment, we present evidence that deficiency for this phosphorylation event prevents conde

127 ell lung cancer driven by K-Ras G12D and p53 deficiency, G6PD knockout did not block formation or pro

128 condition known as Glycogen Branching Enzyme Deficiency (GBED) is the result of one of these deleteri

129 rs with HRDetect mutational signatures of HR deficiency had a functional defect in HR, assessed by im

130 tion analysis if they had an ovarian hormone deficiency, had missing exposure information, or had ind

131 Vitamin D deficiency has been associated with increased incidence

132 Traditionally, primary immune deficiencies have been defined based on increased suscep

133 mor-infiltrating cells in dual PARP-1/PARP-2-deficiency host-mice revealed a global change in immunol

134 ad to inherited glycosylphosphatidylinositol deficiency (IGD).

135 Our results suggest that TET1 deficiency impairs the intrinsic ability of hESCs to dif

136 sential amino acids may point to nutritional deficiencies in AMD.

137 Deficiencies in either LPL or GPIHBP1 impair triglycerid

138 lementation with these metabolites abrogated deficiencies in fetal thalamocortical axons.

139 Notwithstanding their deficiencies in responsiveness to innate environmental c

140 in chloroplast translation, and has varying deficiencies in the accumulation of chloroplast-encoded

141 This review covers deficiencies in the current state of communication, pati

142 Deficiencies in the PD-1 and LAG-3 pathways have been li

143 of this evidence or acknowledgement of these deficiencies in the setting of guidelines.

144 B(1) is an essential dietary component, and deficiencies in this micronutrient underlie several dise

145 Vitamin B-12 and folate deficiencies in women and children have important public

146 ning hematological condition associated with deficiency in ADAMTS13.

147 nd then declined in all mice with or without deficiency in adaptive immunity, indicating a critical r

148 Conditional autophagy deficiency in adult mice causes liver damage, shortens l

149 C8A as a predominant cause of C8alpha-gamma deficiency in African Americans.

150 Little is known about the effects of NPC1 deficiency in brain development and whether these effect

151 Mice with ERAD deficiency in brown adipocytes were cold sensitive and e

152 with anti-CCR3 Ab or introducing a compound deficiency in CCR3 within IL-4Ralpha(-/-) mice, residual

153 own that ataxia-telangiectasia-mutated (ATM) deficiency in CD4 T cells accelerates DNA damage, telome

154 RhoJ deficiency in ECs efficiently suppressed aberrant angiog

155 Moreover, Fn14 deficiency in ECs maintained in vitro impermeability whe

156 e-6-phosphatase-alpha (G6Pase-alpha or G6PC) deficiency in glycogen storage disease type-Ia (GSD-Ia)

157 Indeed, JNK1/2 deficiency in hepatocytes protects against the developme

158 To understand the role of IMPA1 deficiency in ID, we generated induced pluripotent stem

159 in NC/Nga (NC) mice has been attributed to a deficiency in invariant NK T (iNKT) cells.

160 Moreover, we found that B12/FA deficiency in mice induces AhR transcriptional activity

161 Notably, in vivo TPC1 deficiency in mice leads to enhanced passive systemic an

162 PHB1 deficiency in mice or in human colorectal cancer tumoroi

163 Here we show that T cell-specific Notch deficiency in mice prevented house dust mite-driven eosi

164 ing, almost disappointing, that germline MCU deficiency in mice with certain genetic background yield

165 effects of single and dual PARP-1 and PARP-2-deficiency in modulating the antitumor response with an

166 to differentiate properly, with a pronounced deficiency in neuronal differentiation.

167 TG9A mislocalization as a key marker of AP-4 deficiency in patient-derived cells, including the first

168 By modeling MCM10 deficiency in primary NK cell precursors, including pati

169 First, a deficiency in RTF2 leads to higher levels of viral prima

170 We found that dual PARP-1/PARP-2-deficiency in T cells promotes tumor growth while single

171 i excess in the transition metal layer and a deficiency in the alkali metal layer.

172 zebrafish model to study the effects of upf1-deficiency in the context of a vertebrate organism.

173 r neural plasticity that compensates for the deficiency in the initial receptor color signals and sug

174 of the homologous protein GTPBP1 during tRNA deficiency in the mouse brain also leads to codon-specif

175 serpentinization is directly related to a Si deficiency in the serpentine structure, which itself is

176 on in murine erythropoiesis, indicating that deficiency in this receptor is associated with increased

177 an inborn error of metabolism caused by TKFC deficiency in two unrelated families.

178 also been observed in animal models of BDNF deficiency in vivo, and BDNF is a common downstream inte

179 cted the embryo, causing anemia, tissue iron deficiency (including in the brain), and decreased weigh

180 PAG1 deficiency increased airway epithelial activation, ILC2

181 onstitutively ubiquitinated adaptors, a Ubp2 deficiency increased both the adaptor activity and the a

182 osition in the root elongation zone under Pi deficiency increased with LAC2-dependent lignification,

183 d with APOBEC3B and homologous recombination deficiency, increasing neoantigen loads (all p < 0.01).

184 y to restore PTEN, thereby obliterating PTEN deficiency-induced malignancies.

185 Collectively, our data show that CCR3 deficiency influences osteoblast and osteoclast differen

186 One-by-one, gene therapy for primary immune deficiencies is being brought to the clinic and hopefull

187 These studies find that a major defect of CI deficiencies is decreased mitochondrial one-carbon NADPH

188 Glucose 6-phosphate dehydrogenase (G6PD) deficiency is 1 of the commonest human enzymopathies, ca

189 GATA2 deficiency is associated with a broad spectrum of rheuma

190 Mechanistically, we found that CD177-deficiency is associated with an increase in beta-cateni

191 VD deficiency is associated with liver fibrosis progression

192 Although vitamin D(3) deficiency is considered as a risk factor for periodonti

193 ibose) polymerase (PARP) inhibition and BRCA deficiency is exploited to treat breast and ovarian tumo

194 BAT dysfunction resulting from p62 deficiency is manifest after birth and obesity subsequen

195 We conclude that CYB5R3 deficiency is the predominate cause of canine hereditary

196 of individuals with lipodystrophy and leptin deficiency is well established.

197 anisms: (i) the creation of host nutritional deficiencies leading to a compromised host-symbiont stat

198 PDE4B deficiency leads to abnormal Ca(2+) handling and PDE4B i

199 Moreover, PD-L1 deficiency leads to compromised expression of multiple i

200 Our analysis revealed that NPC1 deficiency leads to early phenotypic changes in microgli

201 TSC2 deficiency leads to hyperactivation of mTOR Complex 1 (m

202 Its deficiency leads to impaired activation of developmental

203 SMTNL2 deficiency leads to membrane herniations in the apical d

204 Pdap1 deficiency leads to sustained expression of the integrat

205 Vitamin D deficiency (<12 ng/mL) is associated with reduced ambula

206 G6PD deficiency makes red cells highly vulnerable to oxidativ

207 However, the n-3 PUFAs deficiency-mediated mechanisms affecting the development

208 Human natural killer cell deficiency (NKD) arises from inborn errors of immunity t

209 ntly, our results indicate that the combined deficiencies of caspases-8/1/11 or caspase-8/gasdermin-D

210 Hereditary deficiency of adenine phosphoribosyltransferase causes 2

211 tely, the lack of AMPKbeta1 impairs, whereas deficiency of AMPKbeta2 abrogates differentiation into c

212 le for AR in ALD by showing that the genetic deficiency of AR (knockout mice) prevented alcohol-induc

213 Here, we describe a deficiency of cilia and flagella associated protein 45 (

214 deficiency, we examined mice with selective deficiency of DOCK8 in T cells or T regulatory cells (Tr

215 n T cells promotes tumor growth while single deficiency of each protein limited tumor progression.

216 Although relative deficiency of erythropoietin production is the major dri

217 Here, we show that genetic deficiency of Folliculin, a tumor suppressor, leads to m

218 In mice, a deficiency of HGF expression limited to the auditory sys

219 macological inhibition or phagocyte-specific deficiency of Scd1 accelerated remyelination ex vivo and

220 Deficiency of Siglec-15 leads to an impaired osteoclast

221 Specifically, the deficiency of TGF-beta receptor II in bone marrow progen

222 esults in global loss of Th17 cells, whereas deficiency of the glycolytic enzyme glucose phosphate is

223 common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl-coenzyme A

224 Based on deficiency of vitamins in AVNFH, an enzyme-cofactor netw

225 deficiency disorder (PID) resulting from the deficiency of WAS-protein (WASp) expressed predominantly

226 C; therefore, we analyzed the effect of NPC1 deficiency on microglia and on climbing fiber synaptic r

227 bly BRCA1/2 mutations, mismatch repair (MMR) deficiencies or NTRK1-3 fusions, have shown considerable

228 In vitro, PDE10A deficiency or inhibiting PDE10A with selective inhibitor

229 iant in Haao, which alone does not cause NAD deficiency or malformations, the incidence of embryo los

230 C3 deficiency or prevention of C3a receptor (C3aR) signalin

231 ently, millions of people are impacted by Se deficiency or toxicity, and in geologic history, several

232 DHCR7 deficiency or treatment with the natural product 7-dehyd

233 a true paucity of iron stores (absolute iron deficiency) or a relative (functional) deficiency which

234 utrition, food insecurity, and micronutrient deficiencies, or on overweight, obesity, and dietary exc

235 most common cause is relative erythropoietin deficiency, other factors such as reduced iron availabil

236 eutrophils is observed in patients with CatC deficiency (Papillon-Lefevre syndrome).

237 Mild-to-moderate iodine deficiency, particularly in pregnancy, is prevalent; thi

238 Kidney allograft outcomes are good in APRT deficiency patients beginning XOR inhibitor therapy pret

239 n diabetic mice, suggesting that chromophore deficiency plays a causative role in visual defects in e

240 es, and found that scaffolding protein RACK1 deficiency plays a significant role in GC progression, b

241 te (Asp) and NAA, which is impeded by aralar deficiency, presumably through citrate-malate shuttle.

242 tPA deficiency prevents NMDA receptors from triggering nitri

243 Adipocyte-specific MyD88 or IRAK2 deficiency reduced high-fat-diet-induced weight gain, in

244 Rig-I or Mda5 deficiency reduced HSPC numbers by inhibiting inflammato

245 Nitrogen deficiency reduced the average increase to 10%, as did w

246 chanistically, we demonstrate that glutamine deficiency regulates EMT through the up-regulation of th

247 with tumours harbouring NTRK fusions and MMR deficiencies, respectively, regardless of primary tumour

248 o the dissection of mechanisms of the sulfur-deficiency response and provide additional possibilities

249 driver of erythrophagocytes, and Nfe2l2/Nrf2 deficiency restored heme-suppressed inflammation.

250 Depletion of neutrophils or S100A8/A9 deficiency resulted in improved Mycobacterium tuberculos

251 e beta1 (GLB1) gene cause lysosomal beta-gal deficiency, resulting in accumulation of galactose-conta

252 Vitamin A deficiency results in a deterioration of these functions

253 MINPP1 deficiency results in an intracellular imbalance of the

254 Vitamin E (VitE) deficiency results in embryonic lethality.

255 Moreover, MCU deficiency results in few adverse phenotypes, normal per

256 NOX2 deficiency results in increased expression of IFN-stimul

257 In vitro, Dgkzeta deficiency results in reduced production of TNF-alpha, I

258 In particular, local SMXL5 deficiency results in the absence of secondary phloem.

259 Riboflavin transporter deficiencies (RTDs), involving SLC52A3 and SLC52A2 genes

260 the T cell immunodeficiency caused by gammac-deficiency (SCID X1) and adenosine deaminase (ADA) defic

261 Thus, ALX receptor deficiency serves as an experimental model that defines

262 Two mouse models of polymerase exonuclease deficiency shed light on mechanisms of mutation accumula

263 that MIOX expression accentuates, while its deficiency shields kidneys from, tubulointerstitial inju

264 rophy through activation of mTOR while Gfat1 deficiency shows cardioprotection and a concomitant decr

265 in vivo studies revealed that myeloid-CITED2 deficiency significantly heightened macrophages and neut

266 urine lupus and IFN-lambda receptor (Ifnlr1) deficiency significantly reduces immune cell activation

267 n is the major driver of anemia in CKD, iron deficiency stands out among the mechanisms contributing

268 The consequences of 53BP1 deficiency, such as diminished PARPi efficacy in BRCA1-d

269 nvestigating Tfh role in HIV/acquired immune deficiency syndrome, given its slow rate of CD4 decline,

270 Human T-bet deficiency thus underlies mycobacterial disease by preve

271 ants with constitutive and conditional Sox10 deficiencies to show that Sox10 has multiple functions i

272 Here, we use human and mouse models of EEC deficiency to identify an unappreciated role for the EEC

273 the crucial roles of OsJAZ9 for improving K deficiency tolerance in rice by altering JA levels and J

274 feeding on the different substrate types, Fe deficiency triggers a hierarchy in substrate utilization

275 Functional consequences of DNA methylation-deficiency under control and stress conditions were then

276 d with metformin was largely ablated by AMPK deficiency under the conditions examined, indicating the

277 utic strategies aimed at correcting the TGM1 deficiency underlying ARCI.

278 ingitis (up to 5.3-fold), as well as humoral deficiency (up to 17.6-fold) and autoimmune cytopenias (

279 nscription factor gene FIT in response to Fe deficiency via an indirect mechanism.

280 In primary hepatocytes, p16-deficiency was associated with elevated expression of ge

281 CCR3 deficiency was associated with formation of giant hypern

282 Myeloid LKB1 deficiency was associated with reduced cytokine release

283 PAR-1 deficiency was associated with reduced endothelial von W

284 These findings suggest that inherited NOS2 deficiency was clinically silent in this patient until l

285 Map3k8 deficiency was further shown to be associated with decre

286 sms of persistent skin inflammation in DOCK8 deficiency, we examined mice with selective deficiency o

287 iological mechanisms associated with ALDH7A1 deficiency, we generated a transgenic mouse strain with

288 To overcome this deficiency, we have previously employed computational ap

289 identify the genetic components causing this deficiency, we performed a genome-wide association study

290 iron deficiency) or a relative (functional) deficiency which prevents the use of available iron stor

291 pression under conditions of leptin receptor deficiency, which also induced a delay in cryptal epithe

292 he frontline in multiple disorders with iron deficiency, which include heart failure, chronic kidney

293 tion mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental dela

294 ate that diabetes over time causes autophagy deficiency, which turns off Nrf2-mediated defense while

295 n, or rituximab, except for IRRs for humoral deficiency, which were consistently higher after the inc

296 udinal clinical course of patients with LRBA deficiency who do and do not receive a transplant.

297 connect the tumor-suppressive role of KDM6A deficiency with a cell-specific molecular mechanism that

298 Combining exonuclease deficiency with a polymerisation domain substitution rai

299 e in line with previous reports linking TLR3 deficiency with herpes simplex virus encephalitis.

300 ositive (RRGS) rats combining Rag1 and Il2rg deficiency with the expression of human signal regulator