ライフサイエンスコーパス: founder

1 ave developed densities sufficiently high to founder.

2 otype of 1 Mb around LMNA suggested a common founder.

3 % of Sur-TCR-Tg mice derived from 3 separate founders.

4 in three RAG1/RAG2 double-gene mutant (DGM) founders.

5 d multiple lines of single-gene mutant (SGM) founders.

6 ickly and efficiently generate mutant rabbit founders.

7 per-mantle remnant from earlier lithospheric foundering.

8 antitumor efficacy for the anti-HER2 ADCs in Founder 5 was observed with tumor stasis at 0.5-1 mg/kg,

9 rican AHB population, a likely source of the founder AHB on PR.

10 predictions using biological invasions since founder alien populations start small, compiling the lar

11 cated that c.254-649T > G CLRN1 represents a founder allele that may significantly contribute to deaf

12 8% (104 of 142) were due to a BRCA1 or BRCA2 founder allele, 4.9% (7 of 142) to another BRCA1 or BRCA

13 ing mutations other than the BRCA1 and BRCA2 founder alleles among patients of Ashkenazi Jewish ances

14 rent interferon sensitivities of transmitted founder and chronic viruses.

15 nd progenitor cells are characterized by key founder and driver mutations and are enriched for cytoge

16 John was the Founder and first Editor-in-Chief of the Journal of Mole

17 blish is determined largely by the number of founders and their genetic background.

18 In both lines, all the founders and their offspring appear healthy and reproduc

19 ry strains are derived from a limited set of founders and thus contain only a small subset of this va

20 Generation of a germline-transgenic founder animal by using this protocol takes approximatel

21 hat DNA methylation patterns acquired in the founder animal can be passed to the offspring.

22 onventional genetic breeding schemes, mosaic founder animals carrying mutant alleles are outcrossed t

23 tablish mutant lines, mosaic gene editing in founder animals, and low homologous recombination rates.

24 minor components (e.g. eclogite) capable of foundering at peak conditions.

25 other organisms, particularly insect pests, foundered because of difficulties in delivering, sustain

26 dure from target design to identification of founders can take as little as 6 weeks, of which <10 d i

27 of hESC colonies arising from more than one founder cell and the minimal cell number needed for succ

28 amming from transit amplifying to primordium founder cell fate in Arabidopsis inflorescences.

29 Each Drosophila muscle is seeded by one Founder Cell issued from terminal division of a Progenit

30 However, the persistence of founder cell mitochondrial DNA (mtDNA) mutations limits

31 lerae biofilm as it develops from one single founder cell to a mature biofilm of 10,000 cells, and to

32 sting that the epigenetic landscape within a founder-cell population may contribute to tumor formatio

33 precedes specification of postembryonic root founder cells, from which roots are initiated through th

34 These are initiated from founder cells, triggering new formative divisions that g

35 to priming and specification of lateral root founder cells.

36 pical meristem (SAM) via recruitment of leaf founder cells.

37 ur cases being in descendants of the relapse founder clone.

38 additional mutations and become the relapse founder clone.

39 Quantitative lineage analysis reveals founder clones diminish in frequency and are replaced by

40 the Yangtze descended from a small number of founders colonizing the river from the sea during the la

41 ested using Xenopus tropicalis, we show that founders containing transplants transmit mutant alleles

42 l conditions of plant trait abundance (i.e., founder controlled) due to feedbacks of leaf traits on s

43 Barley was a founder crop in this process, and the most important ste

44 present in the Fertile Crescent and became a founder crop of Neolithic agriculture.

45 Chickpea (Cicer arietinum) is among the founder crops domesticated in the Fertile Crescent.

46 Wheat (Triticum spp.) is one of the founder crops that likely drove the Neolithic transition

47 th in the wild progenitors of both C3 and C4 founder crops.

48 Our results show that founder diet affects the metabolic and reproductive heal

49 ables than would be expected from the serial founder effect and show signals of environmental adaptat

50 nhanced genetic drift', complementary to the founder effect associated with spatial bottlenecks.

51 does not follow the predictions of a serial founder effect during human expansion out of Africa.

52 in studying single-gene disorders, where the founder effect has clearly aided in discovery, and more

53 ciation studies of complex traits, where the founder effect has had less obvious impacts.

54 cosan body disease mutation explains another founder effect in all Ashkenazi-Jewish cases.

55 ance to characterize and confirm the Finnish founder effect in sequencing data and to assess its impl

56 families, and haplotype analysis suggested a founder effect in two of them.

57 rosatellite genotyping demonstrated a common founder effect shared between 3 Scottish patients with a

58 A founder effect was excluded by linkage analysis.

59 e mutation in all individuals, unravelling a founder effect.

60 rom the same ethnic population, suggesting a founder effect.

61 ited retinal dystrophies and is owing to the founder effect.

62 otracted domestication bottleneck and serial founder effects during post-domestication spread, while

63 tional load in populations undergoing serial founder effects during range expansions.

64 ese TMEM126B variants, including evidence of founder effects for both variants, and establish defects

65 ation dynamics, with evidence for persistent founder effects in some ponds, but not in others, and wi

66 er greater loss of language elements through founder effects or drift, or do languages with more spea

67 cifically, reductions in genetic diversity ('founder effects') should be stronger for species with lo

68 ies, shaped patterns of collection bias via 'founder effects'.

69 thward, experiencing genetic bottlenecks and founder effects, which left high haplotype endemism in s

70 as a consequence of separate bottlenecks and founder effects.

71 Arg417*, and p.Gln336Arg) indicated possible founder effects.

72 single dispersal, accompanied by a series of founder effects.

73 lance established in this population through founder effects.

74 Efforts to model DUX4 myopathy in mice have foundered either in being too severe, or in lacking musc

75 Vagm envelopes, including SIVagm transmitted/founder envelopes.

76 maize, which has experienced a more dramatic founder event compared to other maize populations.

77 50,000 y ago is characterized by a series of founder events as modern humans expanded into multiple c

78 ersity in China has resulted from successive founder events during range expansion, and that the loss

79 es of more than 1 million, that descend from founder events more extreme than those in Ashkenazi Jews

80 ographic history revealed bottlenecks during founder events, likely promoting ecological divergence a

81 have high rates of recessive disease due to founder events.

82 es in South Asia that are the result of such founder events.

83 Whilst many of the resulting founder (F0) mice developed motor neuron degeneration, o

84 After metabolic testing, founders (F0) were bred with controls to establish an F1

85 At 19 weeks, founders (F0) were bred with controls, establishing the

86 gh-resolution analysis of the genomes of the founder fibroblast cells without being confounded by the

87 the F1 generation by inbreeding two injected founder fish, significantly reducing animal husbandry an

88 e recipients were used to produce twenty SGM founders for four genes.

89 the risk of hidden inbreeding due to related founders from the same habitat undetectable by pedigree

90 Thus, alarmins and founder gene mutations in MDSs license a common redox-se

91 s consistent with KIR2DP1(F) having been the founder gene.

92 ly methylated in the liver (87.53%) from the founder generation, whereas its methylation rate was muc

93 roximately 30% AML), stable, and behave as a founder genetic lesion.

94 lation level by studying the prevalence of 6 founder genetic variants present in the Dutch population

95 dings are consistent with expansion of small founder groups into novel niches by an initial plastic b

96 ya and detect a cluster of major non-African founder haplogroups in a narrow time interval at 47-52 k

97 A founder haplotype containing c.5461-10T-->C was found to

98 ed that sequence-level investigation of this founder haplotype could provide significant insights int

99 ABCA4 variant c.5461-10T-->C is located on a founder haplotype lacking other disease-causing rare seq

100 es, with c.3044C>T being embedded in a 14 Mb founder haplotype shared by all three.

101 7.5 at reduced penetrance) and lies within a founder haplotype that is also shared by 3 otitis-prone

102 A founder haplotype was identified for mutation c.919G>A (

103 families were identified based on the unique founder haplotype.

104 A large pool of founder haplotypes can be supplied by the user, or gener

105 rge numbers of crossover (CO) events between founder haplotypes, and thus present a unique opportunit

106 al challenge by a heterosexually transmitted founder HIV strain, suggesting that VIP may be effective

107 SHIVs containing primary or transmitted/founder HIV-1 subtype A, B, C, or D Envs with genotypic

108 Strikingly, the envelope gene from a founder HIV-1 virus is far better at evading these defen

109 Importantly, we find that transmitted founder HIV-1, which establishes de novo infections, is

110 conditions and mechanisms required to induce foundering in deep arc crust are assessed using an examp

111 A haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best

112 pulations originating from a small number of founder individuals are therefore considered at increase

113 Lithospheric foundering induces an asthenospheric drag force, which d

114 nce the inheritance patterns and a Caucasian founder is postulated for R271 mutations.

115 ng essential genes, efficient mutagenesis of founders is often lethal, preventing the acquisition of

116 Formation of epiblast (EPI) - the founder line of all embryonic lineages - and extra-embry

117 ge number of contrasting RSA traits among 25 founder lines of the maize nested association mapping po

118 2 generations of free recombination among 60 founder lines, following modification of the mating syst

119 lines derived from eight genetically diverse founder lines.

120 We sequence targeted sites in 632 founder mice and analyse 54 established lines.

121 this study, we generated 18 transgenic (TG) founder mice each carrying a salivary gland specific pro

122 ed into foster mothers efficiently generated founder mice with heritable mutations in targeted genes.

123 takes approximately 2 months to generate the founder mice.

124 The serial founder model of modern human origins predicts that the

125 and patients suggested that gene-edited RTT founder monkeys would be of value for disease mechanisti

126 inical characteristics and outcome of MYBPC3 founder mutation (FG+) HCM with nonfounder genotype-posi

127 lanking haplotype aided diagnosis for 6 of 9 founder mutation alleles.

128 mean [SD] age, 30.1 [9.1] years), a Finnish founder mutation c.652C>T (p.Arg218*) in SPINK5 was iden

129 e pathogenic mutations, including a frequent founder mutation disrupting PRPF31 splicing.

130 One founder mutation enlarged the leaf-like organs on fruits

131 This has been traced to a single founder mutation from north-west Ireland.

132 VRK1-R358X is a rare founder mutation in Ashkenazi Jews, and additional mutat

133 This report discloses a prevalent SPINK5 founder mutation in Finland and illustrates NS phenotype

134 ted mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for approximately 5%

135 We show that a single shared homozygous founder mutation in SGOL1, a component of the cohesin co

136 int-Jean region of Quebec and is caused by a founder mutation in the LRPPRC gene.

137 We have identified a founder mutation in the POLR3A gene that leads to aberra

138 we identified a rare variant that arose as a founder mutation in the telomere shelterin gene POT1 (ch

139 The DDC gene founder mutation IVS6 + 4A > T is highly prevalent in Ch

140 Due to the Brazilian founder mutation p.R337H, some tumors that have not been

141 followed by whole-exome sequencing (WES) and founder mutation screening revealed two truncating rare

142 Reduction of a founder mutation to homozygosity illustrates the importa

143 A founder mutation was identified in DYRK1B, substituting

144 A founder mutation was recently discovered and described a

145 cate that LMNA p.(Arg331Gln) is a pathogenic founder mutation with a phenotype reminiscent of other L

146 alogical data defined MYBPC3 c.927-2A>G as a founder mutation, introduced into the Icelandic populati

147 , and a consensus Gaucher disease-associated founder mutation-flanking haplotype was fine mapped.

148 e similar to the patients homozygous for the founder mutation.

149 ntries suggests that the 21-bp deletion is a founder mutation.

150 18) and likely represents a Northern Finnish founder mutation.

151 ed individuals who are homozygotes for an AJ founder mutation.

152 mutation is from a common ancestor and is a founder mutation.

153 Here, we report two founder mutations (c.11T>G [p.Phe4Cys] and c.97C>T [p.Ar

154 MYBPC3 (Myosin-binding protein C) founder mutations account for 35% of hypertrophic cardio

155 7 probands in the study, 903 probands had no founder mutations in BRCA1 or BRCA2; of these probands,

156 We find that founder mutations in MSH6 and PMS2 prevail in Iceland un

157 y all affected individuals harbor homozygous founder mutations in WDR73 as well as the closely linked

158 sequencing was performed to detect specific founder mutations known to be prevalent in the AJ popula

159 Two CNGA3 founder mutations underlie >50% of cases.

160 Finnish KCNQ1 and KCNH2 founder mutations were associated with fewer cardiac eve

161 The six studied founder mutations were found to be more prevalent (1.1%)

162 h respectively mimic the 2 most common BRCA1 founder mutations, BRCA1185delAG and BRCA15382insC.

163 rbid genome of ciliopathies encompasses many founder mutations, the combined carrier frequency of whi

164 breast cancer who do not carry one of these founder mutations, the likelihood of carrying another pa

165 ivate, but there are also well-characterized founder mutations.

166 utations was related to case mix, stage, and founder mutations.

167 , and the types of strategies present in the founder network, the fluctuating population is found to

168 mosomal deletion and severe apoptosis of the founder neuroepithelial stem cells, accompanied by incre

169 demonstrates highly efficient production of founder NHP with SCID phenotypes, with promises of multi

170 The founder NIPD method developed and described here is rapi

171 Almost all NPPK patients carry the founder nonsense mutation c.796C>T (p.Arg266Ter) in the

172 ly forming rosettes, which are abundant with founder NSCs and correspond to the early proliferative d

173 kingly, highly precise positioning of single founder nucleosomes by either chimeric Chd1-Ume6 or endo

174 Mycobacterium smegmatis DinB2 is the founder of a clade of Y-family DNA polymerase that is na

175 W complex, questioning a role of CENP-T/W as founder of an independent axis of kinetochore assembly.

176 Stiff Stalk germplasm pool, while PH207 is a founder of Iodent germplasm, both of which have contribu

177 ead of its Division of Structural Studies, a Founder of the European Molecular Biology Organization,

178 ir actin and tubulin tracks, making Huxley a founder of the field of cellular motility.

179 B73 is a founder of the Stiff Stalk germplasm pool, while PH207 i

180 onal shear zones is proposed to have induced foundering of excised cumulate material at P > 1.2 GPa.

181 ic transcription regulators, are revealed as founders of a new structural family of dimeric DNA-bindi

182 on this haplotype suggests that unlike most founders of human disease, the common ancestor of HD-aff

183 Dixon was among the founders of modern immunology and a pathfinder for immun

184 ology and Otolaryngology-are credited as the founders of the ABO.

185 om the southeast Arabian Peninsula among the founders of the domestic dromedary gene pool.

186 The founders of the Dutch hypothesis were far ahead of their

187 identified spa t011 as one of the two group founders of the main spa CC identified across the five y

188 ial colonists, help relieve inbreeding among founders, or increase the hazard of the invasion, its de

189 itness but did not prevent adaptation if the founders originated from genetically diverse populations

190 waves of functional innovation that involve founder 'p-loop' and 'winged helix' domain structures.

191 ce was itself short-lived and independent of founders' personality; all communities collapsed within

192 e regulation of HMGCR exon 13 skipping, in a founder population and in two distinct mixed North Ameri

193 tation to nonnative environments despite the founder population being small.

194 (LQT1) in 46 members of a South-African LQT1 founder population carrying the clinically severe KCNQ1

195 opulation, a small and historically isolated founder population comprising about 57,000 inhabitants,

196 1x sequence data across the APOC3 gene in a founder population from the island of Crete in Greece (n

197 This condition occurs only in Acadians, a founder population in Nova Scotia, Canada.

198 Whole genome sequencing in 98 Hutterites, a founder population of European descent, and subsequent i

199 Using in vivo clonal analysis in the founder population of the pancreas here we reveal highly

200 ociations are at lead variants unique to the founder population sequences: chr16:70790626 (high-densi

201 nd ~14,000 years ago descended from a single founder population which forms part of the ancestry of p

202 st Europe represents an early branch of this founder population which was then displaced across a bro

203 Samoans are a unique founder population with a high prevalence of obesity, ma

204 A small founder population, limited to infants and young juvenil

205 l-by-descent (IBD) haplotype sharing in this founder population, we conducted a haplotype association

206 advantages of large-scale sequencing in this founder population.

207 detected in sequencing, even in the Finnish founder population.

208 t to future studies of epistatic variance in founder populations and crosses.

209 Founder populations and large pedigrees offer many well-

210 Adaptation requires genetic variation, but founder populations are generally genetically depleted.

211 Founder populations are ideally suited for studies on th

212 s entry to inhibit establishment of infected founder populations at the portal of entry.

213 Founder populations exhibit a greater range of kinship t

214 l numbers of individuals, and reflects known founder populations in the north.

215 s at the major site of expansion of infected founder populations in the transition zone and adjoining

216 acan maize cultivation evolving from reduced founder populations of isolated and perhaps self-pollina

217 ctive study includes 184 fetuses from 2 LQT1 founder populations segregating p.Y111C and p.R518X (74

218 opulations, corresponding to several ancient founder populations with little evidence of bottlenecks.

219 on method, particularly useful in studies of founder populations, and reaffirm the benefits of studyi

220 ew thousand from strongly bottlenecked human founder populations, and we provide an analytical approx

221 We extend classic theory to founder populations, giving the covariance between indiv

222 this study including 184 fetuses from 2 LQT1 founder populations, third trimester fetal heart rate di

223 y be useful for studies of complex traits in founder populations, where hidden relationships may augm

224 e-based phasing and imputation algorithm for founder populations.

225 by sequence-based imputation and by studying founder populations.

226 , including tier 2 or 3 strains, transmitted founders, quasispecies, and soluble sdAb JM4-resistant s

227 , including tier 2 or 3 strains, transmitted founders, quasispecies, and soluble single domain antibo

228 inimal estimates of the number of rebounding/founder (R/F) variants were determined by single-gene am

229 thereby separating alleles derived from the founder's genome from somatic mutations that must drive

230 the target-specific activity of the sgRNAs; founder screening to identify germline-transmitting muta

231 ity of latent membrane protein 1 (LMP1) gene founder sequences and the level of Epstein-Barr virus (E

232 ium tuberculosis isolates, consistent with a founder strain and/or ongoing spread.

233 n may play a role in determining transmitted/founder strain number and infection outcomes following i

234 helial cells was associated with transmitted/founder strain number.

235 alysis of the core genome confirmed that the founder strain of this lineage originated from a single

236 ctional Taar1 allele, derived from the other founder strain, C57BL/6J, segregates with low MA drinkin

237 ted inversely with the number of transmitted/founder strains among macaques vaccinated with ALVAC-SIV

238 e human signature was reproduced well in the founder strains of the Collaborative Cross (CC) mice, th

239 Taar1 in the DBA/2J mouse strain, one of the founder strains of the selected lines, and show that thi

240 xtensive genetic variation from eight inbred founder strains.

241 ntly remained clonal with rapid outgrowth of founder-, sub-, or even fully independent clones, indica

242 Reducing mutagenesis levels may improve founder survival, but results in lower, more variable ra

243 compared the immunogenicity of a transmitted-founder (T/F) B clade Env (B.1059), a global group M con

244 Cs rapidly and efficiently bound transmitted/founder (T/F) CCR5-tropic (R5) viruses, transported them

245 studied molecular clones and two transmitted/founder (T/F) clones for their sensitivities to a panel

246 When transmitted/founder (T/F) envelope (Env) sequences from 49 vaccinate

247 tically recapitulate features of transmitted/founder (T/F) genomes that are of particular interest in

248 cise molecular identification of transmitted/founder (T/F) HCV genomes that lead to productive clinic

249 V-1 envelope (Env) variants from transmitted/founder (T/F) or chronic infection isolates.

250 nAb titers against breakthrough transmitted/founder (T/F) SIVsmE660-derived envelope glycoprotein (E

251 sults from infection by a single transmitted/founder (T/F) variant.

252 re correlated with the number of transmitted/founder (T/F) variants that established infection, such

253 ion of HCV involves one or a few transmitted/founder (T/F) variants.

254 cise molecular identification of transmitted/founder (T/F) viral genomes and their progeny.

255 t were distinct from both of the transmitted/founder (T/F) viruses and that efficiently engaged the b

256 Analysis of transmitted/founder (T/F) viruses from this study demonstrates that

257 We identified multiple transmitted/founder (T/F) viruses in six HIV-1-infected subjects by

258 lization-resistant phenotypes of transmitted/founder (T/F) viruses that establish infection in humans

259 ms race" occurs in which a HIV-1 transmitted/founder (TF) Env induces autologous neutralizing antibod

260 Strikingly, we find that transmitted/founder (TF) HIV-1 viruses can resist a late block that

261 sensitivity of the breakthrough transmitted/founder (TF) viruses from vaccinated and control animals

262 e somatic mosaicism and allele complexity in founders that occurs for targeted genes during CRISPR/Ca

263 rom a single virus particle (the transmitted/founder) that makes it past these defenses and colonizes

264 gests it to be one of the Ashkenazi paternal founders; to have expanded as part of the overall Ashken

265 thyroid carcinoma in Brazilian carriers of a founder TP53 p.R337H mutation.

266 rcinoma may be associated with the Brazilian founder TP53 p.R337H mutation.

267 nfirmed in embryos generated from two of the founder transgenic marmosets that reached sexual maturit

268 al disease and to demonstrate a new Scottish founder variant.

269 ity to distinguish and enumerate transmitted/founder variants by sequence analysis, we generated a vi

270 taining the ability to enumerate transmitted/founder variants by sequence analysis, we modified the S

271 analyses to evaluate the impact of rare and founder variants on stature in 6,307 individuals on the

272 with multiple phylogenetically linked HIV-1 founder variants represent a minority of HIV-1 infection

273 Transmitted founder viral isolates differed in their CD1d downregula

274 nef sequences diverged from the founder virus faster than gp120 diverged.

275 and neutralized RHPA but not the transmitted/founder virus from donor CAP257.

276 impact of CTL escape and reversion from the founder virus in HIV infection and contribute to the ide

277 Thus, the founder virus is hypothesized to be a relatively interfe

278 In each case, we determined the transmitted founder virus sequence to identify the autologous epitop

279 to a single, C-C chemokine receptor 5-tropic founder virus with shorter, less glycosylated variable r

280 ferred most recent common ancestor (epidemic founder virus) sequence nearly identical to the modern N

281 that causes infection (i.e., the transmitted/founder virus), we sought to generate and characterize i

282 nted role for the replicative fitness of the founder virus, independent of host protective genes and

283 ms of HCV, including full-length transmitted/founder virus, sucrose-purified Japanese fulminant hepat

284 -1 strains, including the CAP257 transmitted/founder virus.

285 reased recognition of a panel of clade B HIV founder viruses (r = 0.50, P = 0.004).

286 We found no evidence that transmitted/founder viruses are generally more susceptible to neutra

287 herwise weakly macrophage-tropic transmitted/founder viruses but restrictive for nonmacrophage-tropic

288 of Vpu proteins from the tested transmitted/founder viruses did not differ from the activity of the

289 e an immune evasion strategy for transmitted/founder viruses during acute infection.

290 to SUN1-mediated inhibition, the transmitted founder viruses RHPA and ZM247 are largely resistant.

291 Analysis of a panel of subtype B transmitted/founder viruses showed that splicing patterns are conser

292 the calculated means of the total number of founder viruses transmitted were 4.5 and 14.5 in the exp

293 primary HIV-1 clones, including transmitted founder viruses, in contrast to the laboratory-adapted N

294 IV-1 primary isolates, including transmitted founder viruses, is diminished by IFITM3 to various leve

295 ariants, at a dose calculated to transmit 12 founder viruses.

296 of the chronic Vpu proteins, the transmitted/founder Vpu proteins trended toward having superior acti

297 Five founders were produced: one SGM, two DGM, one triple-gen

298 Female founders with mCherry fluorescence on ophthalmoscopy wer

299 d, evenly differentiated mosaic of the eight founders, with mapping power and resolution strengthened

300 u392Ser variant is likely a newly identified founder YARS2 mutation.