ライフサイエンスコーパス: truncate

1 n when the time window of data collection is truncated.

2 e G-quadruplex and a secondary structure, we truncated 19 nucleotides (nt) from the primer regions of

3 owing change in ART treatment guidelines and truncated 24 months' outcome data, as 17 women were not

4 uction of an alternative mRNA isoform with a truncated 3' untranslated region.

5 Only K (1) was reproducible from truncated 30-min datasets (intraclass correlation coeffi

6 3), and k (4) The analysis was repeated with truncated 30-min dynamic datasets.

7 translated in full-length (61-amino-acid) or truncated (41-amino-acid) form.

8 CYP20-2) was a new variant of OsCYP20-2 that truncated 71 amino-acid residues in N-terminal.

9 However, theory suggests competition can truncate a species' fundamental niche in harsh environme

10 In particular, through truncating ACE2 at its residue 740 but not 615, introduc

11 ertain sets of initial membrane voltages but truncated activity under others.

12 enza viruses encoded 61 amino acids but were truncated after introduction into dogs.

13 Truncating alpha-catenin's C-terminus eliminates force-a

14 ation; and 5) discuss pathways through which truncated alphasyn forms and therapies targeted to inter

15 In this work, we have rationally truncated an aptamer capable of recognizing gliadin in a

16 MG11 is a truncated analog of minigastrin, a peptide with high aff

17 They can be viewed as truncated analogues of adenophostin A and refine underst

18 e W1282X mutation results in both C-terminus truncated and read-through proteins that are partially o

19 ptide 1 was N-terminally extended as well as truncated and subjected to a d-amino acid scan, and Leu

20 CHD cases had more protein truncating and deleterious missense DNVs among connectom

21 The role of truncated androgen receptor splice variant-7 (AR-V7) in

22 TASIN (Truncated APC-Selective Inhibitors) compounds are select

23 disease (AD), and it has been reported that truncated apolipoprotein fragments and beta-amyloid (Abe

24 A fluorescein dye labeled GO quenches the truncated aptamer by pai-stacking interactions.

25 The truncated aptamer is a 19-nucleotides-long DNA that mini

26 One of the truncated aptamers was found to bind to TM with four-fol

27 or incorporates two identical biotin-labeled truncated aptamers, one of which is immobilized on a car

28 HCC cell lines expressed C-terminal-truncated AR-SV; 28 primary HCC samples abundantly expre

29 hybrid experiments with full-length and MORN-truncated ARC3 showed the MORN domain mediates ARC3-PARC

30 In contrast, full length and truncated arrestin-3 form trimers and higher-order oligo

31 Plasma tau was truncated as previously described in CSF.

32 acteroides thetaiotaomicron is selective for truncated, asialylated core 1 structures commonly associ

33 lly, molecular modelling revealed that hyper-truncated Asn355-glycans positioned in the MPO-cerulopla

34 Truncated ASPP2 collaborated with both E-cadherin loss a

35 Truncated ASPP2 cooperates with E-cadherin and PTEN loss

36 e resolution of five crystal structures of a truncated ASR version (ASRDelta2) in complex with differ

37 A soluble form of HuCR1, truncated at amino acid 1392 and designated CSL040, was

38 ent peptides from ribosomes stalled on mRNAs truncated at the A site, allowing ribosome recycling.

39 fects of atprmt3-2 while produces a putative truncated AtPRMT3 protein bearing the entire N-terminus

40 small subset of environmental strains, and a truncated Aux3 unique to and conserved in pandemic isola

41 ns were screened in chicken liver cells by a truncated avian HEV capsid protein (ap237) in which the

42 leads to reduced expression of C-terminally truncated BCOR (BCOR(DeltaE9-10)).

43 tic analysis of stand-alone KR1 as well as a truncated bimodular derivative of DEBS revealed that 1D1

44 idual functional MRI task durations could be truncated by at least 40% after MP-PCA without degradati

45 edundancy and structure-function analyses to truncate C-terminal tails of SYP-5/6, we provide evidenc

46 her isoform, P2RX7E, which in addition has a truncated C-terminus.

47 l missense (c.83T>A; p.Ile28Asn) and 2 novel truncating (c.658C>T; p.Gln220* and c.1370C>G; p.Ser457*

48 Truncated Cas9 target sequences (tCTSs) added at the end

49 h TDP1 while not affecting the activity of a truncated catalytic domain of TDP1 lacking the N-termina

50 otypes, where deep-bodied benthic forms with truncate caudal fins repeatedly evolve into slender midw

51 an oncolytic vaccinia virus that introduces truncated CD19 expression in solid tumors, which are the

52 es, our results with sequence-randomized and truncated-CEH helices suggest that this binding interact

53 FTR, suggest the presence of both C-terminus truncated CFTR proteins that are poorly functional and r

54 p. CTN-3, with 15 of its N-terminal residues truncated (Chd(T)), using single-wavelength anomalous di

55 ight contribute to the pathogenicity of PA-X-truncated CIVs.

56 The truncated ClC-5:Q629* variant displayed the lowest Cl(-)

57 Deltatau314, the C-terminally-truncated cleavage products, are soluble and present in

58 au variants, the largest isoform hTau40, the truncated construct K18, and a hyperphosphorylation-mimi

59 gated the cellular function of several PfCCT truncated constructs in a CHO-MT58 based rescue assay.

60 the endogenous CCT activity we observed that truncated constructs lacking the lysine-rich insertion,

61 The latter results in truncated crystals that resemble a half structure of the

62 e specific 3'-UTR reannotation; extending or truncating default annotations based on RNA-Seq read evi

63 er, 16 genes were recurrently hit by protein-truncating DNMs, corresponding to a 3.15-fold higher rat

64 Here, we used a mouse expressing a truncated dominant negative form of the human TCF4 trans

65 We found here that C-terminally truncated Drosophila TnT (TpnT-CD70) retains binding of

66 organised in a linear fashion and partially truncating each other.

67 motif dominance "cycling", spiking activity truncates early.

68 f oblique light rays that strike the square (truncated) edge of the IOL and are reflected onto the re

69 Expression of the truncated eif2b5 in wild-type larva impairs motor behavi

70 intron 12 retention leads to expression of a truncated eif2b5 transcript.

71 e responsible for 25-29% of all rare protein-truncating events per genome.

72 brafish injected with ocrl morpholino showed truncated expression of megalin along the pronephric kid

73 full-length 7S IgY and 5.7S IgY, which has a truncated Fc region.

74 the full-length FERM domain and a series of truncated FERM constructs by small-angle X-ray scatterin

75 Importantly, the resulting C-terminally truncated fibrils acted as superior seeds in stimulating

76 ic expression of its wild-type receptor or a truncated form (EpoRm), which augments Epo signaling in

77 possesses a typical FERM-domain sequence, a truncated form has been crystallized in an unexpected, e

78 e2fb mutants and in plants overexpressing a truncated form of E2FB lacking the RBR binding domain st

79 We demonstrate that a recombinant truncated form of HECTD1 can stimulate incision of THF-i

80 ution NMR structure of PopZ(Delta134-177), a truncated form of PopZ that does not self-assemble but r

81 tent activity of protein kinase M (PKM), the truncated form of protein kinase C (PKC), can maintain l

82 calization to the mitochondria and created a truncated form of the FKBP8 protein, thus impairing its

83 Patient-derived truncated form(s) of UBAP1 cause aberrant endosome clust

84 version of this RNA aptamer (syn-RA16) and a truncated form, and compared them to trans-RA16 for abil

85 Vm) of poliovirus RNA in its full-length and truncated form.

86 ents evaluating the prion-like properties of truncated forms of alphasyn in various models with impli

87 analyze the interactomes of full-length and truncated forms of RAG1 in pre-B cells.

88 Here, utilising activated truncated forms of the receptors, we show that ADGRE2/EM

89 lls were monitored in response to mutated or truncated forms of transfected Man1b1.

90 ding of the role of apolipoproteins or their truncated fragments in exacerbating AD pathology.

91 Here, using CRISPR/Cas9 to truncate full-length mutant HTT in HD140Q knock-in (KI)

92 -tagged Gbetagamma and nanoluciferase-tagged truncated G protein receptor kinase 3, an increase in BR

93 Truncated Gag proteins comprising the MA, CA, and SP dom

94 ng sensory inputs in the glomerular layer in truncated GCs lacking dendrodendritic inputs.

95 Whether truncated glioma-associated oncogene homolog 1 (TGLI1),

96 ity gain and showed that nMPO carrying hyper-truncated glycans at these positions exhibits increased

97 oth characteristic under-processed and hyper-truncated glycans.

98 of adeno-associated virus (AAV)2/1-carrying truncated gRNAs targeting Myd88 and the MS2-HP1a-KRAB ca

99 nuclease competent CRISPR complex containing truncated gRNAs.

100 the co-administration of dead-RNAs (dRNAs), truncated guide RNAs that direct Cas9 binding but not cl

101 the non-truncated M(54) decahedron with the truncated homogold Au(49) kernel in similar-sized gold n

102 the hRpn13 Pru, producing cells that express truncated hRpn13 (trRpn13), which is competent for UCHL5

103 We test 35,212 truncated human 5' UTRs and 3,577 naturally occurring va

104 urotensin receptor 1 (NTSR1) in complex with truncated human beta-arrestin 1 (betaarr1(DeltaCT)).

105 Asparaginase was truncated in 17/21 patients with AAP who subsequently de

106 in function arises from the acute effects of truncated inhibition.

107 Analysis of truncated Inp1 variants showed that the C terminus is im

108 self-assembly pathway, the star hexagon was truncated into two triangular fragments: [Cd(12)L(1)(3)L

109 tive splicing at the daf-2 locus generates a truncated IR that fine-tunes insulin signaling in respon

110 ry of a novel, transcriptionally independent truncated isoform of ACE2, which we designate as deltaAC

111 These truncated isoforms accumulated in the cytoplasm and form

112 tutions or nonsense mutations that partially truncate its C-terminal cytoplasmic regulatory domain im

113 ncover a previously unrecognized role of the truncated KCNH2-3.1 potassium channel in mediating compl

114 nt-negative effect caused by the assembly of truncated KCNQ3 and functional KCNQ2 subunits.

115 nked and experimentally generated C-terminal truncated KCNQ3 mutants retain the ability to assemble w

116 3 channels, allowing us to determine whether truncated KCNQ3 subunits can assemble with KCNQ2.

117 to capture the extreme events appearing in a truncated Korteweg-de Vries (tKdV) statistical framework

118 ent Merkel cell polyomavirus (MCPyV)-derived truncated large T antigens induced ATOH1 expression in f

119 lations, we asked if we could improve an NS1-truncated live attenuated influenza vaccine developed fo

120 y properties.IMPORTANCE Effectiveness of NS1-truncated live attenuated influenza vaccines relies heav

121 tion events and the expression of a range of truncated LRP protein fragments, thereby greatly limitin

122 While the MCV-truncated LT can bind and inhibit RB, it does not bind p

123 A comparison of the non-truncated M(54) decahedron with the truncated homogold A

124 iver (47%) is predominantly a 129-amino acid truncated mature frataxin (79-207) in which the N-termin

125 We have also found that truncated mature frataxin (79-207) is present primarily

126 phenotypes is likely due to the presence of truncated MeCP2 in Mecp2R294X mice.

127 death and demonstrated that the presence of truncated MeCP2 in these mice does not interfere with wi

128 uncated statistic method (TS) by utilizing a truncated method to find the genes that have a true cont

129 that nucleus-localized dCas13 fusions with a truncated METTL3 methyltransferase domain and cytoplasm-

130 C2), which is empowered by: (i) a novel left-truncated mixture of Gaussian model for an accurate asse

131 the result of dominantly acting C-terminally truncated MN1 protein.

132 The X-ray structure of a truncated monomer of Type III Dio (Dio3), which deiodina

133 Truncated mRNA transcripts were observed in CYP2B11-H2 a

134 ease-dead full-length Mt2 (Mt2S762A) and the truncated Mt2 that lacks the catalytic domain (Mt2mask)

135 Experiments with truncated mutant C/EBPbeta demonstrated that PIAS1 inter

136 e found that TFEB regulates the secretion of truncated mutant tau lacking MTBR and this process is de

137 on the oligomeric state of the protein, and truncated mutants demonstrate that the bridging depends

138 uctal adenocarcinoma and identify a germline truncating mutation in the member of the RAS oncogene fa

139 probands (41% versus 42%) and patients with truncating mutations (98% versus 100%).

140 Nevertheless, we find that truncating mutations affecting the same exon frequently

141 Truncating mutations are markedly enriched in kidney, co

142 UBE3A pathogenic variants, individuals with truncating mutations are more impaired than those with m

143 cts de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminatin

144 nt a unit of effective phenotypic impact for truncating mutations in autism.

145 We identified a cluster of de novo truncating mutations in MN1 in a cohort of 23 individual

146 ebrafish inner ear, we tested the effects of truncating mutations in tmc1, tmc2a, and tmc2b on in viv

147 mary carcinomas are enriched with stop-gain, truncating mutations predicted to result in loss of func

148 We identified seven different truncating mutations, one of which was recurrent.

149 Even among carriers of TTN truncating mutations, this polygenic score influences th

150 y reported for all previously described EYA4 truncating mutations.

151 tuents, compared to N(6)-(2-phenylethyl), in truncated (N)-methanocarba (bicyclo[3.1.0]hexyl) adenosi

152 were identified with adjudicated pathogenic truncating (N=234 unique variants, 1047 patients) or non

153 N=3) mice, and mice expressing C-terminally truncated Na(v)1.5 (DeltaSIV; N=3).

154 sulted in diminished binding to amylose, but truncated NcAA13 still favored amylose oxidation over ot

155 Multivariable analyses (logistic and zero-truncated negative binomial regression) were conducted a

156 a premature stop in translation, yielding a truncated, nonfunctional enzyme.

157 early termination cryptic axon, resulting in truncated, nonfunctional mRNA.

158 Whole-exome sequencing revealed homozygous, truncating nonsense alleles in ADAMTS19 in all four affe

159 distributions and models expressed genes by truncated normal distributions.

160 ygous frameshift mutation in NOS2 encoding a truncated NOS2 protein that did not produce nitric oxide

161 Here, we show a role for a truncated NTRK2 splice variant, TrkB.T1, in human glioma

162 Rather than assuming a truncated number of pathway steps, we propose to use the

163 of advantages for tumor cells to have these truncated O-glycans remain elusive.

164 Human carcinoma cells often express truncated O-glycans, Tn (GalNAcalpha1-Ser/Thr), and Sial

165 orthotopic glioma mouse model overexpressing truncated O-linked glycans (MGL ligands), high-dimension

166 ncreased expression of both tumor-associated truncated O-linked glycans and their receptor, macrophag

167 utes event times for right-censored and left-truncated observations, but these imputations are hidden

168 An octahedral Ag(6) core is encaged by a truncated octahedral Ag(24) shell.

169 clathrate) with La atoms encapsulated within truncated octahedral cages composed of alternating carbo

170 tonic solid with six 3.3.3.3 vertices) and a truncated octahedron (an Archimedean solid with twenty-f

171 all subsequent studies utilized N-terminally truncated open reading frames.

172 lls with full-length APC, but not if APC was truncated or depleted.

173 ses on H3N8 and H3N2 CIV backgrounds bearing truncated or full-length PA-Xs.

174 r data partially explain the conservation of truncated PA-X in CIVs.

175 Additionally, CIVs with truncated PA-Xs were transmitted more efficiently in dog

176 an estimated parametrical distribution and a truncated part of the observed distribution, specificall

177 d that incubation of chromatin or DNA with a truncated Ph protein containing the SAM results in forma

178 c information and lead to an accumulation of truncated, phosphate-terminated strands.

179 of the Results, which incorrectly reads 'No truncated PIEZO1 protein products were identified in wes

180 ulating non-functional and potentially toxic truncated polypeptides.

181 The observed distribution is a truncated power law.

182 s using the summary data-based adaptive rank truncated product method to examine the overall associat

183 hin existing ORFs, resulting in N-terminally truncated products, as well as internal out-of-frame ORF

184 To avoid unwanted truncated protein and improve ncAA-protein yields, genom

185 variants, BUBR1X753 and BUBR1H, generating a truncated protein and low amounts of wild-type protein,

186 This variant most likely results in a truncated protein as shown in vitro by heterologous expr

187 Using truncated protein constructs we identified the domain re

188 The truncated protein is generated by trypsin cleavage of so

189 6), suggesting that the truncated protein is not stable and therefore degraded.'

190 Cvi-1 FtsZ2-2 allele encodes a C-terminally truncated protein lacking a region required for FtsZ2-2

191 acids while the diminutive allele encodes a truncated protein of 287 amino acids.

192 viously reported, do produce low levels of a truncated protein product.

193 e traffic similarly to the dominant-negative truncated protein SYP121(DeltaC), which blocks secretion

194 th protein, Ma1, and its naturally occurring truncated protein, ma1, localize to the tonoplast; when

195 owed the mutant transcript translated into a truncated protein.

196 , SMAD4, STK11, TP53 etc.), often leading to truncated proteins and affecting gene expression.

197 and G542X-CFTR, although abundant N-terminus truncated proteins due to reinitiation of translation we

198 n of Iso4/4b and Iso10/10b, which encode for truncated proteins, only in those premutation carriers w

199 SAXS analysis of a truncated RcRE variant revealed an "A"-shaped topologica

200 Truncated RhsA that retains the PAAR domain is capable o

201 y, nonsense variants were shown to result in truncated RIMS2 and decreased insulin secretion in mamma

202 eter model that consistently outperforms its truncated rival and a delay differential equation altern

203 We assayed 119 missense and 45 truncating RNF43 mutations found in human cancers using

204 of dyf-18 is also sufficient to elongate the truncated rod-like unbranched cilia of the ASH nocicepti

205 Truncated SALL1 increases the ubiquitin proteasome-media

206 ine-zipper protein LUZP1 as an interactor of truncated SALL1, a dominantly-acting protein causing the

207 n a nonsense R1117X mutation, which leads to truncated SHANK3 and has been linked previously to corti

208 ChAdOx1) encoding a genetic immune enhancer (truncated shark class II invariant chain) fused to the n

209 ting a shifted power law or an exponentially truncated shifted power law delay distribution, revealin

210 , other type 2 diabetes-associated SNPs that truncate SLC30A8 confer protection from this disease, co

211 on leads to a short solvent (SS) model, with truncated solvent-solvent and solute-solvent Coulomb int

212 The synthesis and biological evaluation of truncated spirastrellolide A analogues comprised of the

213 ion of mouse mu-opioid receptor (mMOR)-1G, a truncated splice variant with six transmembrane (TM) dom

214 Therefore, we evaluated truncated stathmin-2 (STMN2) as a proxy of TDP-43 pathol

215 In this paper, we propose a new truncated statistic method (TS) by utilizing a truncated

216 The proposed truncated statistic outperforms existing methods.

217 It is known that a truncated steroid biosynthetic pathway in lampreys produ

218 Truncated STMN2 accumulated in human induced pluripotent

219 n the reports that TDP-43 dysfunction causes truncated STMN2 accumulation.

220 Overall, our data uncovered truncated STMN2 as a marker for TDP-43 dysfunction in FT

221 The authors suggest that measurement of truncated STMN2 mRNA could be a biomarker for discerning

222 uman brain samples from the NYGC ALS cohort, truncated STMN2 RNA was confined to tissues and disease

223 Last, we validated that truncated STMN2 RNA was elevated in the frontal cortex o

224 TDP, we observed significant associations of truncated STMN2 RNA with phosphorylated TDP-43 levels an

225 e-origin H3N8 or avian-origin H3N2 CIVs were truncated, suggesting that PA-X truncation occurred afte

226 elements, although selection against protein-truncating SVs was stronger than all noncoding effects.

227 PGPC is inverse cone-shaped because its truncated tail with a terminal polar group points into t

228 d U2OS cells revealed that the corresponding truncated TANGO1 protein is dispersed in the ER and its

229 most mRNA molecules, ultimately leading to a truncated TANGO1 protein was identified as disease-causi

230 t with the seeding-incompetent nature of the truncated tau and supporting the concept that TFEB-media

231 However, truncated tau species lacking the microtubule-binding re

232 anscript (Tet1(S) ) encoding an N-terminally truncated TET1 protein and a full-length Tet1 (Tet1(FL)

233 Mutations that truncate the C terminus of neuronal Kv7/KCNQ channels ar

234 ariant in a major GABA(A)R gene, GABRA1 This truncated the alpha1 subunit between the third and fourt

235 Here, we truncated the C-terminal winged-helix-domain (WHD) of Mc

236 identify target proteins of FBXW7 in CLL, we truncated the WD40 domain in CLL cell line HG-3 via clus

237 This heterozygous variant (c.1995delA) truncates the canonical Sp1 molecule in the highly conse

238 identified a gypsy-transposon in MYB10 that truncates the protein and knocks out anthocyanin biosynt

239 of Ma1 leads to a premature stop codon that truncates the protein by 84 amino acids at its C-termina

240 mutation (A119W) in the catalytic domain or truncating the C-terminal domain of TPS1 severely compro

241 these analogues in BALB/c mice indicate that truncating the C28 oligosaccharide of the natural produc

242 Methods: Low-dose images were generated by truncating the list-mode PET data to reduce the count st

243 Truncating the top antigen, CBU_1718, had no effect on s

244 TD) of Rpf2 during these anchoring steps, by truncating this extension and assaying effects on middle

245 amilies with two unique TINF2 mutations that truncate TIN2, a shelterin subunit that controls telomer

246 We show that the truncated TIN2 proteins do not localize to telomeres, su

247 its native site on the bacterial surface and truncated to improve solubility.

248 ntibodies, discovered in camelids, have been truncated to yield single-domain antibody fragments (VHH

249 L498W and H499C can activate a truncated TpoR mutant, which lacks the extracellular dom

250 ed to splice the bZIP60 mRNA that produces a truncated transcription factor that activates gene expre

251 Recombinant AcCYP51 with a truncated transmembrane helix was purified as a heteroge

252 using its purified components FtsZ, FtsA and truncated transmembrane proteins essential for cell divi

253 eads to the formation of a dominant negative truncated TRESK fragment.

254 ermed TbCAE, resulted in the accumulation of truncated tRNAs, abolished translation, and inhibited bo

255 The truncated TSPYL1 protein that lacks the nucleosome assem

256 ients harbor a high prevalence of pDGVs that truncate tumor suppressor proteins.

257 over, the MIRb-ACE2 translation product is a truncated, unstable ACE2 form, lacking domains required

258 lent tethering using the naturally occurring truncated variant (DeltaN6) of the human protein beta(2)

259 We show that beta1-Delta7p-chimaerin is a truncated variant generated by alternative splicing at a

260 OSBPL1 also encodes the truncated variant ORP1S that contains only the C-termina

261 different hABHD6 constructs and identified a truncated variant without N-terminal transmembrane (TM)

262 Expression of ORP2, another truncated variant, also restored PM cholesterol in ORP1-

263 chimaerin, causing nuclear retention of this truncated variant.

264 xtent of MLID in a family harbouring a ZFP57 truncating variant and characterize the interactions bet

265 s found to segregate alongside an A-band TTN truncating variant in a pedigree with aggressive, early-

266 Family 1 had two offspring with a homozygous truncating variant in EXOC2 that leads to nonsense-media

267 nes with the strongest signal in the protein-truncating variant prioritisation analyses were TRIM28,

268 and RpsA WT, RpsA DeltaA438, and each of the truncated variants of RpsA DeltaA438, are reported.

269 381 with the efficiencies of combinations of truncated variants-JdLPMO10 and JdCBM5-Chi18 or JdLPMO10

270 we report that the burden of rarest protein-truncating variants (PTVs) in two large cohorts is negat

271 Variants in TTN, particularly truncating variants (TTNtvs), have been implicated in th

272 Truncating variants account for 91% of MYBPC3 pathogenic

273 bserved a significant excess of rare protein-truncating variants among ALS cases, and these variants

274 ients with chromosomal deletions and protein truncating variants had a significantly higher burden of

275 ent six affected individuals with bi-allelic truncating variants in NUP188 and strikingly similar phe

276 While truncating variants in PALB2 are known to increase cance

277 Truncating variants in the TTN gene (TTNtv) are the comm

278 Truncating variants in TTN and DSP were associated with

279 tions, patients with ABCA4 presenting with 2 truncating variants may first present features of STGD1

280 wed that most of the patients with biallelic truncating variants presented with CRD and that these ca

281 Most affected individuals with protein-truncating variants presented with mild intellectual dis

282 All truncating variants that we tested in cellular models le

283 Truncating variants were evenly dispersed throughout the

284 in SCAF4 including two splice-site and seven truncating variants, all residing in the N-terminal two

285 this study, we identify eight novel protein-truncating variants, six de novo, in 13 participants fro

286 We identified missense and truncating variants, suggesting that KDM3B haploinsuffic

287 tted (n = 6), or inheritance unknown (n = 2) truncating variants, two individuals with structural var

288 ity and adverse event rates as observed with truncating variants.

289 ion based on inheritance and the presence of truncating variants.

290 for deletions covering genes intolerant for truncating variants.

291 e known (Synpo-short and -long), and a novel truncated version (Synpo-T) is upregulated in podocytes

292 A truncated version of the only insulin receptor in C. ele

293 n enzyme that is only half as efficient as a truncated version that lacks the CTT.

294 end, we generated recombinant, soluble, and truncated versions of HuCR1 and compared their ability t

295 Two other mutant strains made truncated versions of the protein.

296 inical outcomes are similar in patients with truncating versus nontruncating variants.

297 The present analysis relying on truncated Weibull distribution supports a relationship b

298 otein and show the coiled-coil region can be truncated while preserving both DNA binding and cellular

299 Truncated XPA, lacking the intrinsically disordered N- a

300 orpholino knockdowns, in which expression of truncated ZMYM2 proteins, based on individual mutations,