ライフサイエンスコーパス: null mutation

1 atinocyte cell lines lacking keratin 14 (K14-null mutation).

2 m negative controls, suggesting that it is a null mutation.

3 11q23 linked in the Amish to the APOC3 R19X null mutation.

4 ng a pathogenic knockin mutation, C54Y and a null mutation.

5 and can rescue the embryonically lethal Pkd1-null mutation.

6 gene expression and failure to rescue a yan null mutation.

7 ed enamel defects in a patient with an ORAI1 null mutation.

8 dy weight gain and fat deposit with the znt7-null mutation.

9 netic evidence that ten1-3 is likely to be a null mutation.

10 any time compared with those without an FLG null mutation.

11 ation above the level of a complete Secisbp2 null mutation.

12 hological and molecular abnormalities as the null mutation.

13 nt patients carrying one c.204insA TNFRSF13B null mutation.

14 tis and molecular genetically with filaggrin-null mutations.

15 ents; 402 had null mutations and 129 had non-null mutations.

16 lysosylation T168N and misfolding 382-387dup null mutations.

17 Both alleles are null mutations.

18 rapy was not uniform among children with FLG null mutations.

19 sk of atopic dermatitis independently of FLG-null mutations.

20 ed to date involve engineered or spontaneous null mutations.

21 ontrols were screened for CNV and common FLG-null mutations.

22 lines established from EBS patients with K14-null mutations.

23 proven homozygous/compound heterozygous TRDN null mutations.

24 ble in fibroblasts from the individuals with null mutations.

25 ty in zebrafish with CRISPR-induced slc39a14 null mutations.

26 ns with known AD risk factors, including FLG null mutations, 23 other established AD-genetic risk var

27 t younger median ages than patients with non-null mutations (9.7 vs 10.9 months and 13.8 vs 16.1 mont

28 The main characteristics of ACTA1 null mutations (absence of skeletal muscle alpha-actin)

29 Compound inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted

30 Blind sterile (bs) mice carry a Tbc1d20-null mutation and exhibit cataracts and testicular pheno

31 ion type was known for 531 patients; 402 had null mutations and 129 had non-null mutations.

32 ically elevate persistence frequency through null mutations and domain disruptions.

33 to investigate the relationship between FLG-null mutations and epidermal antigen-presenting cell (AP

34 Null mutations and hypomorphic variants of the secreted

35 Patients carrying null mutations and Lp(a) levels >50 mg/dl showed the hig

36 ignificant interaction was found between FLG null mutations and smoking status (P = .02).

37 This generates a higher proportion of null mutations and substantially increases the potency o

38 nvestigate possible interactions between FLG null mutations and tobacco smoking in relation to asthma

39 currents are abolished by a homozygous Tmie-null mutation, and subtle Tmie mutations that disrupt in

40 ated with atopic eczema, including filaggrin-null mutations, and allergen-specific IgE were more comm

41 Preliminary data have suggested that this null mutation APOC3 R19X (rs76353203) is rare in the gen

42 ORAI1 null mutations are associated with reduced numbers of in

43 wn and kinase inhibition approaches, as Plk1 null mutations are embryonically lethal.

44 In contrast, taf1 null mutations are lethal, demonstrating that TAF1 is an

45 PIGA-null mutations are thought to be embryonic lethal, sugge

46 -4C greatly enhanced the defects caused by a null mutation at the KINESIN-4A/FRA1 locus.

47 he severity of human SMA by using a targeted null mutation at the mouse Smn1 locus coupled with the t

48 Characterization of rats with a null mutation at the Pgr locus has forced a reexaminatio

49 In the mouse, donor liver CC1 null mutation augmented IRI-OLT (CC1-KO->WT) by enhancin

50 severe combined immune deficiency (biallelic null mutations), B-cell expansion with nuclear factor ka

51 sing conventional breeding strategies, three null mutations behaving as recessive alleles were combin

52 he previously reported R19X cardioprotective null mutation (beta = -1.09,sigma = 0.163, P = 8.2 x 10(

53 very similar to those associated with Tbx18-null mutations, but 12Gso is clearly not a global null a

54 cardiomyopathy due to an SLC25A4 frameshift null mutation (c.523delC, p.Q175RfsX38), which codes for

55 Finally, the AfuveA null mutation can be fully complemented by Aspergillus n

56 h mtd encodes 26 transcripts, severe LoF and null mutations can be rescued by a single short human OX

57 Here we describe a new gene, LF5, in which null mutations cause cells to assemble flagella of exces

58 pper and its transporter ATP7A because ATP7A null mutations cause neurodegeneration.

59 Our data show that the MoVps17 null mutation causes defects in growth, development and

60 heckpoint has been difficult, because a mek1 null mutation causes rapid repair of DSBs using a sister

61 have confirmed the initial finding that cpxA null mutations confer resistance to HU.

62 ast, the tel1-DeltaC mutation behaved like a null mutation, conferring defects in both DNA damage res

63 SCP-null mutation decreased viral titer by 1,000 times and i

64 Analysis of a null mutation demonstrates that vha-12 is not required f

65 t that human patients with homozygous MYBPC3-null mutations develop dilated cardiomyopathy, coupled w

66 A single aipl-1-null mutation did not cause a detectable phenotype.

67 r neural crest (NC)-specific (NC-Foxc1(-/-)) null mutation display excessive growth of corneal blood

68 PSEN1 null mutations do not cause EOfAD.

69 Our study reveals that the Pax6-null mutation dramatically affects these cells and ident

70 This study evaluated the effect of Msx2-null mutation during experimental periodontitis in mice.

71 e-induced CaMKII inhibition or the DFak(CG1) null mutation each block the ability of glutamate applic

72 Normally silent heterozygous Shh null mutations exacerbated PBO teratogenicity at all dos

73 bleeding events, we found that patients with null mutations experienced their first bleed and first j

74 octopaminergic neurons of animals carrying a null mutation for all aminergic signaling is sufficient

75 ted choline diets to DBA/2 mice carrying the null mutation for the alpha7 nicotinic receptor gene (Ch

76 Blood, Liu et al describe the creation of a null mutation for the antithrombin III gene (at3) in zeb

77 Mice with a null mutation for TRPV4 or wild-type mice treated with a

78 Null mutations for two of these genes decrease attachmen

79 ly engineered mice with Kras G12V and Cdkn2a-null mutations frequently observed in PDAC.

80 The FLG null mutation genotype was significantly associated with

81 Although a ctpA null mutation has no major effect on bacterial growth in

82 Subsequent investigations of the role of FLG-null mutations have identified a series of significant a

83 We show that subjects with FLG-null mutations have more mature Langerhans cells in nonl

84 It is distributed ubiquitously, and null mutations have strong consequences on embryonic dev

85 Filaggrin (FLG) loss-of-function (FLG null) mutations have been associated with an increased r

86 Large(myd) mice have a null mutation in a gene encoding the glycosyltransferase

87 Zebrafish carrying a null mutation in a neurotrophic factor receptor, Ret, di

88 In this strategy a null mutation in any gene is replaced with a genetically

89 In mouse, null mutation in Arl13b results in severe patterning def

90 nt used for QTL mapping was found to carry a null mutation in CcLOL1.

91 d cells of transparent testa4-2, which has a null mutation in CHALCONE SYNTHASE and therefore synthes

92 dly increased nicotine intake in mice with a null mutation in Chrna5.

93 An exception is a null mutation in COX14 that does not affect Cox1 synthes

94 A null mutation in COX25 by itself or in combination with

95 The patient had a heterozygous null mutation in CYP2C19 suggesting probable clopidogrel

96 te development, we generated mice carrying a null mutation in Dlgh-1.

97 In mice of the C57BL/6J strain, a null mutation in Dmrt6 disrupts spermatogonial different

98 characterized the developmental defects of a null mutation in Drosophila Ack, which bears a high degr

99 We generated a null mutation in Drosophila Poleta (dPoleta) and found t

100 rom a female subject who is hemizygous for a null mutation in FOXP3, allowing the comparison of autol

101 tozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous

102 The authors have identified a novel null mutation in mouse Mfrp.

103 Here we use a null mutation in mouse Sas4 to define the cellular and d

104 However, the reported consequences of a null mutation in NOA1 are inconsistent.

105 phenotypes; alyron mutant embryos carrying a null mutation in paf1 were analyzed in detail.

106 Deltaepi mutants that are heterozygous for a null mutation in Pten, providing evidence that Rac1 is r

107 , and two carried a truncation or frameshift null mutation in RBM8A.

108 ty mapping and exome sequencing identified a null mutation in SLC24A4 in a family with hypomineralize

109 f European ancestry who are homozygous for a null mutation in SLC29A1 (c.589+1G>C) and thus have the

110 Here, mice carrying a null mutation in Sost were analyzed using quantitative m

111 rkably similar to that of embryos carrying a null mutation in Tet1.

112 We also constructed a null mutation in the ark gene and demonstrated its role

113 ces of this study are the demonstration that null mutation in the axon guidance molecule EphA4 gene i

114 C-1 deficiency in pallid mice, which carry a null mutation in the Bloc1s6 gene encoding an essential

115 Mice carrying null mutation in the clarin-1 gene (Clrn1(-/-)) show los

116 SH production were evaluated in flies with a null mutation in the clock genes cycle and period.

117 The plt (pale tremor) mouse carries a null mutation in the Fig4(Sac3) gene that results in tre

118 sly showed that zebrafish embryos carrying a null mutation in the four-pass transmembrane PCP protein

119 A null mutation in the Fpn1 gene is embryonic lethal befor

120 We show here that a null mutation in the gene dmrt1 in the ascidian Ciona sa

121 on of densin, we created a mouse line with a null mutation in the gene encoding it (LRRC7).

122 Mice with either a null mutation in the gene encoding TGF-beta1 or T cell-s

123 analyzed mice lacking brain serotonin (via a null mutation in the gene for tryptophan hydroxylase 2 (

124 Mice rendered hypoglycemic by a null mutation in the glucagon receptor gene Gcgr display

125 mouse embryonic stem cells homozygous for a null mutation in the Idol gene.

126 id) mutation (SCID) mice, and SCID bearing a null mutation in the IL-2 common gamma chain receptor (N

127 Here we show that a null mutation in the microhomology-mediated end-joining

128 By analyzing a conditional null mutation in the mouse Tpx2 gene, we show here that

129 To this end, we generated mice with a null mutation in the peropsin gene (Rrh).

130 ethods: Sharpin (cpdm) mice with spontaneous null mutation in the Sharpin gene and their wt littermat

131 tion (cpdm) mice, which harbor a spontaneous null mutation in the Sharpin gene, exhibited impaired IL

132 he sterility and premature aging caused by a null mutation in the single worm lamin homolog.

133 We show that fluoxetine treatment and null mutation in the sole SERT gene mod-5 eliminate sero

134 esent study, we used mice with a conditional null mutation in the Stat5a/b gene locus to determine th

135 tein in culture to tooth explants carrying a null mutation in the tooth-patterning gene Eda.

136 , we used a naturally occurring mouse with a null mutation in this gene to probe stem cell properties

137 We identified recessive null mutations in 8 additional probands, of which, 3 had

138 A recent study revealed that null mutations in ACC2, encoding a plastid-targeted acet

139 Null mutations in apaH, the gene encoding nucleoside tet

140 rone neurodegenerative disease, present with null mutations in Atm.

141 roviding the first direct demonstration that null mutations in Atp13a2 can cause pathological feature

142 Null mutations in both genes, termed IDN2-LIKE 1 and IDN

143 nockout mice and Caenorhabditis elegans with null mutations in caveolin (60% increase free radical in

144 Catalytic null mutations in CnaA caused stunted growth despite sep

145 ISPR/Cas9 genome editing generated predicted null mutations in cnrip1a and cnrip1b.

146 nd found that 10 (9.3%) of them carried TBX6 null mutations in combination with common hypomorphic va

147 We identified predicted null mutations in CSPP1 in six individuals affected by c

148 pression rhythms are lost in the presence of null mutations in either cyc or the gene encoding the CL

149 Although in both species, null mutations in either IL-2RG (which encodes gammac),

150 Strains with null mutations in either sigV or all seven ECF sigma fac

151 Null mutations in filaggrin (FLG), a key epidermal barri

152 Null mutations in for pigment epithelium-derived factor

153 Phenotypic analyses of mutants with null mutations in genes encoding enzymes of the N-methyl

154 Biallelic null mutations in genes encoding interferon gamma recept

155 Lifespan extension by null mutations in genes encoding raga-1 (RagA) or rsks-1

156 Most DBA cases are caused by heterozygous null mutations in genes encoding ribosomal proteins.

157 Null mutations in genes involved in V(D)J recombination

158 eous heteroplasia, a human disease caused by null mutations in GNAS, which encodes Galphas, Hedgehog

159 We report compound heterozygous null mutations in IRF7, which encodes the transcription

160 cterus caused by compound heterozygosity for null mutations in KLF1, each inherited from asymptomatic

161 Null mutations in laminin beta2 (LAMB2) cause Pierson sy

162 We have generated null mutations in Liprin-beta and Liprin-gamma to invest

163 parents and identified compound heterozygous null mutations in LRBA Biallelic LRBA mutations cause co

164 Cells that harbor null mutations in MELK exhibit wild-type doubling times,

165 ZAP70 deficiencies in humans and null mutations in mice lead to severe combined immunodef

166 We hypothesized that null mutations in NEUROG3 might be responsible for the d

167 In mice with null mutations in Ngl-2 (Ngl-2(-)/(-)), many branches of

168 Null mutations in one of these, termed PAPS1, result in

169 Patients with null mutations in ORAI1 or STIM1 genes present with seve

170 In Drosophila, null mutations in pacman result in small imaginal discs,

171 Extensive analyses of mice carrying null mutations in paired box 7 (Pax7) have confirmed the

172 Mice with null mutations in PlexA4 or Sema6A exhibit severe defect

173 Null mutations in pqn-47 cause a developmental arrest at

174 Null mutations in Ptpn6, which encodes the nonreceptor p

175 Although null mutations in Ptprq cause the loss of high-frequency

176 Here we show that mice with null mutations in Sema6A or PlexinA4 (PlexA4) exhibit a

177 We found that null mutations in some genes caused an increase, and oth

178 Null mutations in SPG20 cause Troyer syndrome, a specifi

179 We take advantage of viable, null mutations in subunits of the clathrin adaptor prote

180 ital scoliosis (11%); we did not observe any null mutations in TBX6 in 166 controls (P<3.8x10(-6)).

181 for both wild-type yeast and strains bearing null mutations in telomere protein complexes, there is a

182 e identified a total of 17 heterozygous TBX6 null mutations in the 161 persons with sporadic congenit

183 Null mutations in the ABHD12 gene lead to PHARC syndrome

184 We identify null mutations in the alpha subunit of AP2 in the nemato

185 Here we report that second-site null mutations in the Arabidopsis leucine-rich repeat re

186 Null mutations in the Drosophila orthologue of TDP-43, n

187 A series of hypomorphic and null mutations in the FAD2.A5 isoform were characterized

188 Null mutations in the FGF receptor heartless (htl), or i

189 s, we generated mice simultaneously carrying null mutations in the GFAP, Vimentin, and PPT1 genes (GF

190 Strains with null mutations in the GraS holoprotein (DeltagraS) or it

191 Mice with homozygous null mutations in the HDL receptor (scavenger receptor c

192 Null mutations in the human IQCB1/NPHP5 (nephrocystin-5)

193 have suggested that children with homozygous null mutations in the LPIN1 gene suffer from rhabdomyoly

194 ads to defects that are not shared by drosha null mutations in the morphology of gamma neurons in the

195 Then, four of these were combined with null mutations in the other two isozymes, FAD2.C5 and FA

196 Null mutations in the PCSK1 gene, encoding the proprotei

197 ed by loss of motor neurons in patients with null mutations in the SMN1 gene.

198 in inductions of isogenic prophages carrying null mutations in the spanin genes.

199 We used mice carrying null mutations in the type I IFNR, type II IFNR, or both

200 Cas9 system to generate mono- and bi-allelic null mutations in the Tyr locus by zygote injection of t

201 In the mouse and other animals, homozygous null mutations in the Tyrosinase gene (Tyr) result in th

202 59wDelta yeast strain and other strains with null mutations in the VLCFA pathway cause eIF2B to appea

203 76 suppressed the internalization defects of null mutations in three late endocytic factors: amphiphy

204 We discovered a mechanism by which null mutations in transketolase A (tktA) and glycerol-3-

205 ited arrhythmia syndrome caused by recessive null mutations in TRDN-encoded cardiac triadin.

206 Null mutations in UNG and MSH2 demonstrate the complemen

207 nts were genotyped for the 2 most common FLG null mutations in white subjects: R501X and 2282del4.

208 phenotype often as a consequence of severe (null) mutations, in cases of long-term, advanced disease

209 In higher plants, a cpftsy null mutation inhibits assembly of both the light-harves

210 Therefore, the current study introduced agrB null mutations into type B strains CN1795 and CN1793.

211 A pdnad-mdh null mutation is embryo lethal.

212 tion carriers suggest that heterozygous TBX6 null mutation is insufficient to cause congenital scolio

213 frameshift (FS), which does not result in a null mutation, is expressed as a truncated UVRAG(FS) in

214 uble mutants were constructed containing the null mutation isa2-339 and either du1-Ref, encoding a tr

215 Interestingly, however, the null mutation leads to altered topology of cone opsin ex

216 Moreover, OATP1B1 and OATP1B3 null mutations may confer substantial drug toxicity risk

217 bed hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic pheno

218 FLG null mutations modified the effects of smoking on the ri

219 c1(nmf164) mutant mice than in mice with the null mutations (Npc1(nih), Npc1(spm)).

220 hway is critical for NMJ maintenance because null mutation of any of the three genes is perinatal let

221 Consistently, mice with null mutation of Ceacam1 (Cc1(-/-)) exhibit impaired ins

222 Cl, Na, and K in forming enamel of mice with null mutation of Cftr, Ae2a,b, and Amelx, according to q

223 Exposure to fluoride or null mutation of Cftr, Ae2a,b, or Amelx each results in

224 We used a histone null mutation of Drosophila melanogaster to show that hi

225 Mice with null mutation of either Dra or Slc26a6 had a normal dent

226 Null mutation of Fig4 in the mouse results in spongiform

227 Mice with a null mutation of gp130 in primary nociceptive afferents

228 Our present investigation shows that null mutation of IEX-1 promotes differentiation of Th17

229 Null mutation of IEX-1 protected mice against HFD-induce

230 Mice with a null mutation of IFN regulatory factor 8 (IRF8) accumula

231 ocal application of a TNF-alpha inhibitor or null mutation of IFN regulatory factor7 (IRF7).

232 Contrary to our expectations, null mutation of IFN-gamma caused no reduction of cytoto

233 In contrast, null mutation of IL-10 diminished M2-biased macrophages

234 ll-derived neurons from a patient carrying a null mutation of IL1RAPL1 gene.

235 thalamocortical axons, and that mice with a null mutation of Linx exhibit a complete absence of the

236 eltapilQ/epsA and Deltatgl/epsA mutants, and null mutation of pilB or pilC in an DeltaepsA background

237 wild-type mice but not mice homozygous for a null mutation of PKCgamma (PKCgamma(-/-)).

238 NA sequencing to investigate the effect of a null mutation of RNase 1 on the levels of tRNA halves an

239 Here we show that a mouse null mutation of Sema6d results in ectopic placement of

240 Here, using mice with a liver-specific null mutation of Sirt1, we have identified a signaling p

241 ignaling components, we found that a protein null mutation of Smad2, the only Activin subfamily R-Sma

242 A null mutation of SSY5 (ssy5Delta) increases replicative

243 A null mutation of Syb1 resulting from a spontaneous, nons

244 lices obtained from mice carrying a targeted null mutation of the adenylate cyclase 1 gene (AC1-KO) a

245 A null mutation of the Drosophila calcium/calmodulin-depen

246 ll-derived neurons from a patient carrying a null mutation of the IL1RAPL1 gene had more dendrites.

247 sitivity of ipl1-2 can also be suppressed by null mutation of TOR1 or by administration of pharmacolo

248 homozygosity or compound heterozygosity for null mutations of FIG4 is responsible for YVS, the most

249 r eukaryotic DNA replication, and homozygous null mutations of GINS component-encoding genes are embr

250 06 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox prote

251 subdomains were injected into mice carrying null mutations of mouse COL7 and the human COL7 transgen

252 Mice with null mutations of Sema6A exhibit significant defects in

253 Null mutations of snf3 result in a defect in growth on l

254 Null mutations of the gene encoding the scaffold protein

255 We have previously shown that combined null mutations of the specificity protein (Sp) 1/Klf-lik

256 Null mutations of TMEM219 or IL-13Ralpha2 also phenocopi

257 Liver-specific inactivation or global null-mutation of Ceacam1 impairs hepatic insulin extract

258 cause B vitamins are essential for survival, null mutations often have embryo lethal phenotypes that

259 acked cysteines blocked the effect of a dsbA null mutation on PhoQ/PhoP activity, suggesting that Mgr

260 ght to evaluate the effect of individual FLG null mutations on the persistence of AD over time.

261 ing TIP39 signaling, either because of PTH2R-null mutation or brain delivery of a PTH2R antagonist ha

262 d a set of Lep mutant rats that carry either null mutations or a deletion of the 14(th) Ile (LEP(I14)

263 Null mutations or siRNA silencing of TMEM219 or IL-13Ral

264 phedema were more common in individuals with null mutations (P = .038 and P = .006, respectively).

265 econd risk allele in all 17 carriers of TBX6 null mutations (P<1.1x10(-6)).

266 The snf3 null mutation phenotype is suppressed by the loss of eit

267 l with microphthalmia caused by a functional null mutation (R200Q) in visual system homeobox 2 (VSX2)

268 tudy of children with AD with respect to FLG null mutations (R501X, 2282del4, R2447X, and S3247X).

269 s is essential for spore viability because a null mutation (rad17Delta) in the Rad17 checkpoint prote

270 clusion, this thorough investigation of SGTA-null mutation reports a mild phenotype of reduced body s

271 A codY null mutation resulted in >4-fold overexpression of 146

272 In a wild-type background, a plaP null mutation resulted in a modest swarming defect and s

273 In both cases, deletions yielded a null mutation resulting from a nonsense frame-shift and

274 ously, it was shown that an aconitase (citB) null mutation results in a vast overaccumulation of citr

275 Mice with Itpr1 heterozygous null mutations showed no major iris defects.

276 ough the generation of a cardiac conditional null mutation that Casz1 is essential for the proliferat

277 is study focused on telomere biology, viable null mutations that confer inviability at 36 degrees hav

278 ly partial loss-of-function alleles, whereas null mutations that disrupt delivery of matrix proteins

279 valuating hemophilia A patients harboring F8-null mutations that were either inhibitor negative (n =

280 re we show that, in mice harboring an Lhfpl5 null mutation, the unitary conductance of outer hair cel

281 When individually removed by null mutation, these peptides had little or no effect on

282 th MECP2 and IRAK1 Like many boys with MECP2 null mutations, this child died very early, at the age o

283 AS model mice, which carry a maternal Ube3a null mutation (Ube3a(m-/p+)), recapitulate major feature

284 turation by postnatal day 18, when the mouse null mutation was lethal.

285 SMC-restricted conditional, inducible Myocd null mutation were generated and characterized.

286 Subjects with an FLG null mutation were less likely (odds ratio [OR], 0.54; 9

287 Finally, null mutations were associated with severe clinical phen

288 y untreated with FVIII concentrate, 197 with null mutations were classified as high risk and 38 with

289 were classified as high risk and 38 with non-null mutations were classified as low risk.

290 In a US cohort with AD, FLG null mutations were common.

291 Bcma-, Taci-, and Br3-null mutations were introgressed into NZM 2328 mice.

292 Children with FLG null mutations were more likely to have persistent AD.

293 One or more FLG null mutations were noted in 16.3% of subjects and speci

294 alized by either SV40 large T antigen or p53-null mutation, whereas alpha3beta1-dependent expression

295 ay showed complete functional impairment for null mutations, whereas partial or no impairment was obs

296 n this motif ((723)AKLIIP) with an exo1Delta null mutation, which individually confer only weak mutat

297 3 mutant, sym1, was described as a predicted null mutation with neural crest defects, but no mesoderm

298 re successful, however, in combining an rnr1 null mutation with weak pnp mutant alleles, and show tha

299 This enabled us to differentiate null mutations with complete absence of IL-36 receptor a

300 This primarily yielded homozygous null mutations, with nonsense (n = 3), small indel (n =