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 gene expression and failure to rescue a yan null mutation.

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

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

5 hological and molecular abnormalities as the null mutation.

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

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

8 11q23 linked in the Amish to the APOC3 R19X null mutation.

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

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

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

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

13 Both alleles are null mutations.

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

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

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

17 ble in fibroblasts from the individuals with null mutations.

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

19 ing splice variants when generating targeted null mutations.

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

21 tis and molecular genetically with filaggrin-null mutations.

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

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

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

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

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

27 We constructed a mouse Hinfp-null mutation and found that heterozygous Hinfp mice sur

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

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

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

31 Null mutations and hypomorphic variants of the secreted

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

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

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

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

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

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

38 ORAI1 null mutations are associated with reduced numbers of in

39 , fail to undergo this transition, and their null mutations are embryonically lethal.

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

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

42 -4C greatly enhanced the defects caused by a null mutation at the KINESIN-4A/FRA1 locus.

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

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

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

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

47 e dosage studies suggesting that blk1-R is a null mutation, biochemical analyses confirm that the wil

48 ucleotide A200-to-T/C transversion and a vpr null mutation, but these isolates were still susceptible

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

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

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

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

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

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

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

56 .6 underlie motor disorders, with homozygous-null mutations causing juvenile lethality.

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

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

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

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

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

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

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

64 Our results showed that Parg null mutation does cause poly(ADP-ribosyl)ation of Squid

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

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

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

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

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

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

71 chromosome engineering strategy to create a null mutation for the gene ortholog encoding LGI1.

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

73 Null mutations for two of these genes decrease attachmen

74 The FLG null mutation genotype was significantly associated with

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

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

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

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

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

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

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

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

83 the affected individual was homozygous for a null mutation in BMPER, which encodes the bone morphogen

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

99 Interestingly, null mutation in Puma protects both primitive and differ

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

123 , we generated knockout (KO) mice carrying a null mutation in the Tcap gene.

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

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

126 organogenesis, we generated mice carrying a null mutation in this gene.

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

128 Null mutations in a novel gene, NHS, cause the syndrome.

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

130 Null mutations in apaH, the gene encoding nucleoside tet

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

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

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

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

135 l expression of CELLULOSE SYNTHASE9 (CESA9), null mutations in CESA9 caused no change in cellulose co

136 Catalytic null mutations in CnaA caused stunted growth despite sep

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

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

139 Here we use null mutations in Drosophila dynamin, clathrin, and AP-2

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

141 Plants carrying null mutations in either gene produced petals with no na

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

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

144 We found that mice with null mutations in EphB2 and EphB3 had normal contralater

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

146 Null mutations in for pigment epithelium-derived factor

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

148 Biallelic null mutations in genes encoding interferon gamma recept

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

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

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

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

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

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

155 Importantly, null mutations in Lck, ZAP70, and the TCR alpha- and bet

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

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

158 Here we report that null mutations in LTBP2 cause PCG in four consanguineous

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

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

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

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

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

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

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

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

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

168 Null mutations in Ptpn6, which encodes the nonreceptor p

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

170 ad53, using hypomorphic alleles of Rad53 and null mutations in Rad9 and Mrc1, and provide evidence th

171 nic development, as all previously described null mutations in SAC components in mice cause embryonic

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

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

174 Null mutations in SPG20 cause Troyer syndrome, a specifi

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

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

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

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

179 Null mutations in the ABHD12 gene lead to PHARC syndrome

180 By autozygosity mapping, we identified null mutations in the ADAM metallopeptidase domain 9 (AD

181 Here, we report that mice bearing parallel null mutations in the adapter proteins Schnurri2 (Shn2)

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

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

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

185 Ap(r) resulted from null mutations in the flhE gene, C-terminal truncation m

186 Null mutations in the genes white and brown, but not sca

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

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

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

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

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

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

193 Null mutations in the PCSK1 gene, encoding the proprotei

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

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

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

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

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

199 59wDelta yeast strain and other strains with null mutations in the VLCFA pathway cause eIF2B to appea

200 76 suppressed the internalization defects of null mutations in three late endocytic factors: amphiphy

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

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

203 Null mutations in, and salivary gland-specific knockdown

204 determination mutation, along with a second null mutation, in different wild genetic backgrounds to

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

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

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

208 A pdnad-mdh null mutation is embryo lethal.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

223 Null mutation of Eklf resulted in abnormal expression of

224 Null mutation of Fig4 in the mouse results in spongiform

225 Null mutation of genes encoding the alpha4 or beta2 subu

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

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

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

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

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

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

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

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

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

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

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

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

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

239 A null mutation of SSY5 (ssy5Delta) increases replicative

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

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

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

243 Conversely, null mutation of the Hey paralog, Hey1, increased the nu

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

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

246 We now demonstrate that null mutations of Drosophila Dab result in phenotypes th

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

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

249 06 kb microdeletion and homozygous predicted null mutations of GSC, encoding Goosecoid homeobox prote

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

251 Mice with null mutations of Sema6A exhibit significant defects in

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

253 Null mutations of the gene encoding the scaffold protein

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

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

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

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

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

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

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

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

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

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

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

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

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

267 Finally, a hid-1 null mutation reduces the levels of endogenous neuropept

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

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

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

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

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

273 Shox2 null mutation results in embryonic lethality due to card

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

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

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

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

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

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

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

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

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

283 have been described, we generated a targeted null mutation Ush1c mouse model in which the first four

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 =