ライフサイエンスコーパス: germline

1 lopment form the foundation of the mammalian germline.

2 nts at quality comparable to Refined IBD and GERMLINE.

3 is an essential event in the mammalian male germline.

4 d in various somatic tissues, as well as the germline.

5 offspring through epigenetic changes in the germline.

6 sage compensation mechanisms in the prenatal germline.

7 cation vectors between the periphery and the germline.

8 30% of RUNX1 mutations in our AML cohort are germline.

9 genetically fit cells to establish the adult germline.

10 ase of heterochromatic silencing in the male germline.

11 soma communicates nutritional status to the germline.

12 a dominant role for PRC2 in restricting the germline.

13 imulating mtDNA biogenesis in the developing germline.

14 ity by small RNAs is a ubiquitous feature of germlines.

15 Exome sequencing revealed a recessive germline 21-bp in-frame deletion in NUAK2 segregating wi

16 tural studies to compare mature and inferred-germline Ab binding to envelope protein domain III of ZI

17 ependent enhancement, further information on germline Ab binding to ZIKV and the maturation process t

18 by CRISPR-Cas9 editing have testes that are germline ablated but otherwise structurally normal.

19 In addition, we find that germline-active and soma-specific promoters have distinc

20 0/2572) had 12 TET2 mutations (75% predicted germline and 25% somatic).

21 ent RNAIndel, a tool for predicting somatic, germline and artifact indels from tumor RNA-Seq data.

22 ined chromosomal locations in the C. elegans germline and show that the position of the resulting CO

23 data, therefore, support the idea that both germline and soma components of the ejaculate contribute

24 tion in the blastocyst, acquire capacity for germline and soma formation, and then undergo lineage pr

25 d several categories of RNA alterations with germline and somatic DNA alterations, and identified pro

26 r tumour triage and reliably identified both germline and somatic MMR mutations.

27 Beyond germline and somatic mutations promoting constitutive SH

28 l differences in regulatory architectures of germline and somatic tissue-specific genes, uncover regu

29 d PIWI-interacting RNA (piRNA) pathways, the germline and the ASI neuron are all required for avoidan

30 in the gene CTNNB1, but causative genes from germline and the underlying pathophysiology are unclear.

31 mporo-spatial organisation of the C. elegans germline and time-resolved methods of protein removal, w

32 el to study how coordinated stem cell units, germline, and somatic follicle stem cells maintain and r

33 ulatory grammars associated with ubiquitous, germline, and somatic tissue-specific gene expression pa

34 oline-specific and total IgM moves away from germline (as evidenced by an increase in N-additions) wi

35 We tested whether germline autosomal mutation rates in young adults predic

36 ies of iATS and cATS are patterned along the germline axis.

37 ling regarding surveillance in patients with germline BAP1 pathogenic variant.

38 lence of uveal melanoma in patients with the germline BAP1 pathogenic variants in the US population w

39 y in triple-negative breast cancer (TNBC) in germline BRCA mutation carriers (BRCA carriers).

40 n progression-free survival in patients with germline BRCA mutation-associated advanced breast cancer

41 Of 1,252 patients with germline BRCA mutations (BRCA1, 811 patients; BRCA2, 430

42 Young women with germline BRCA mutations have unique reproductive challen

43 y on breast cancer outcomes in patients with germline BRCA mutations.

44 tion as maintenance therapy in patients with germline BRCA1 or BRACA2 mutations might prove to be a h

45 e patients (aged >=18 years) had deleterious germline BRCA1 or BRCA2 mutation-associated, histologica

46 h HER2-negative advanced breast cancer and a germline BRCA1 or BRCA2 mutation.

47 aged 19 years or older in South Korea) with germline BRCA1-mutated or BRCA2-mutated or both and hist

48 physician's choice (TPC) in patients with a germline BRCA1/2 mutation (gBRCAm) and human epidermal g

49 arcinomas (PDACs) develop in patients with a germline BRCA1/2 or PALB2 (gBRCA/PALB2+) mutation.

50 E-A11 is normally expressed only in the male germline but is frequently re-activated in cancers.

51 id show signs of postirradiation recovery in germline-carrying fish in several traits related to offs

52 iated germline-free fish than in the control germline-carrying fish where somatic recovery was stunne

53 of NHR-23/NR1F1 within hermaphrodite or male germlines causes sterility due to an absence of function

54 fore thought to be important for maintaining germline cell fate.

55 protein coupled receptors (GPCRs) within the germline cells also eliminated the capability of males t

56 Somatic and germline cells both express piwi-interacting RNAs in jel

57 eads to a reduced somatic genome compared to germline cells.

58 on occurs in part through the maintenance of germline chromatin, likely acting through the nuclear RN

59 The V-J reverted germline configuration of ZIKV-116 preferentially binds

60 r and normal patient samples do not consider germline context or the potential for the co-occurrence

61 ,987 variants shared between the somatic and germline databases.

62 Moreover, previous analyses of germline de novo mutations examined pedigrees (and not g

63 laboratory models of IBMFSs suggest that the germline deficiencies establish a qualitatively impaired

64 A previous report has shown that germline deletion of Grb14 in mice results in cardiac hy

65 Germline deletion of the p75 neurotrophin receptor cause

66 Germline depletion of histone deacetylases revealed that

67 -interacting RNAs (piRNAs) play key roles in germline development and genome defence in metazoans.

68 germ granules and plays an important role in germline development by interacting with other proteins

69 nserved versus species-specific features for germline development in mammals.

70 Therefore, future studies of human germline development must consider the sexually dimorphi

71 enrich mRNAs in the germ lineage for robust germline development.

72 f utilization facilitates somatic control of germline development.

73 ic mRNAs as a function of position along the germline developmental axis.

74 that is essential for axis polarization and germline differentiation after fertilization.

75 Understanding of the mechanisms that govern germline differentiation lags behind other plant develop

76 In higher plants, germline differentiation occurs during a relatively shor

77 We conclude that germline disruption of PTEN, both in human and mouse, re

78 We performed whole-exome sequencing (WES) of germline DNA and 157 primary and metastatic tumors from

79 protective barrier to ensure safeguarding of germline DNA from environmental insults.

80 Next-generation sequencing of germline DNA in 2,160 early-onset breast cancer and 1,19

81 , the loss of maternal SMCHD1 does not alter germline DNA methylation imprints pre-implantation or la

82 olecular subtypes, clarify novel somatic and germline drivers, highlight cellular origins and develop

83 scidian Botryllus schlosseri regenerates the germline during repeated cycles of asexual reproduction.

84 When detected by fixed, germline encoded receptors, pathogen-associated molecula

85 orm plasmablasts that secrete high titers of germline-encoded IgM autoantibody and hypermutating germ

86 A set of germline-encoded innate immune receptors detect microbia

87 NLRP1 and CARD8 are related germline-encoded pattern recognition receptors that form

88 tigen-like modality features interactions of germline-encoded regions of particular TCR Vgamma region

89 o 3.20-angstrom resolution revealed that the germline-encoded residues dominate recognition of the an

90 most anti-NANP antibodies studied to date, a germline-encoded Trp is used to engage the Pro in NPNA b

91 l autoantibodies (mAbs), their corresponding germline-encoded unmutated common ancestors (UCAs), and

92 of MAFR-1 that are expressed in a sperm- and germline-enriched manner.

93 Gene regulation in the germline ensures the production of high-quality gametes,

94 g a major tandem repeat of 120 bp and ~1,000 germline-expressed genes.

95 Germline expression of RNA-Interference (RNA-i) construc

96 total of 111 patients were included: 64 full germline, familial patients (53 HP and 11 LP) and 47 mos

97 occurred substantially faster in irradiated germline-free fish than in the control germline-carrying

98 xpensive germ line" hypothesis by generating germline-free zebrafish Danio rerio and testing the effe

99 expanded in eutherian mammals to protect the germline from environmental stress and aid in stress ada

100 In mammals, the acquisition of the germline from the soma provides the germline with an ess

101 ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB.

102 riginates from the less commonly used VH3-15 germline gene compared to the VH3-30/33 antibodies gener

103 on of super-enhancers (SEs) drives bursts in germline gene expression after the mitosis-to-meiosis tr

104 ta depends on the existence of comprehensive germline gene reference sets.

105 on RNA granules may similarly contribute to germline gene silencing in other organisms.

106 f several endogenous genes controlled by the germline gene-silencing pathways.

107 were derived from the IGLV1-40 and IGLV1-44 germline genes, as well as 2 from the closely related IG

108 e in the regulation of transposons and other germline genes.

109 ss hundreds of genes, many of which are male germline genes.

110 e needed to fully elucidate the landscape of germline genetic alterations in children with WT.

111 d with epithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian c

112 Genetic counseling and germline genetic testing of cancer predisposition genes

113 Association of a genome-wide set of germline genetic variants enabled the identification of

114 pediatric HLH, adult HLH is rarely driven by germline genetic variants.

115 Overall, we observe that germline genetic variation shapes haematopoietic stem ce

116 ic health records and national registries to germline genetics, the time-to-event data analysis has a

117 icient (MSI-H/MMR-D) status, and somatic and germline genomic correlates.

118 Recent germline genomic investigations have increased our under

119 e variants that are derived from the closest germline (GL) sequence.

120 or predisposition syndrome that is caused by germline GPR161 mutations and characterized by MB(SHH) i

121 Germline heterozygous ablation of exon 5 increases BAK1

122 They colonize somatic tissues and germline in chimeras.

123 ransmitted across generations via epigenetic germline inheritance.

124 lood cancers, and our ability to distinguish germline (inherited or de novo) and somatic mutations is

125 rotransposon proliferation poses a threat to germline integrity.

126 fine-mapping of sister chromatid exchanges, germline inversion and to support global haplotype assem

127 The animal germline is an immortal cell lineage that gives rise to

128 In higher plants, the female germline is formed from the megaspore mother cell (MMC),

129 a do not generally support the idea that the germline is prioritized over soma, at least, within the

130 sults provide evidence that the Nematostella germline is specified by inductive signals rather than m

131 on of both false-negative and false-positive germline large insertions and deletions.

132 ssue-specific deletion of TRIM71 in the male germline led to reduction of the undifferentiated sperma

133 n through production of natural Ig, which is germline-like due to minimal insertion of N region addit

134 In this study, we demonstrate the germline-like status of phosphatidylcholine (PtC)-specif

135 which integrate into locations distinct from germline loci.

136 by cancer predisposition in both carriers of germline loss-of-function mutations and genetically engi

137 Germline loss-of-function mutations in BRCA1 interacting

138 igm for extreme SCC susceptibility caused by germline loss-of-function mutations in FA DNA repair pat

139 e identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in

140 genes, including the naive pluripotency and germline marker Dppa3 (Stella, Pgc7).

141 ordinates heterochromatic silencing and male germline maturation.

142 been surprising, almost disappointing, that germline MCU deficiency in mice with certain genetic bac

143 me sequencing, we identified rare homozygous germline missense or nonsense variants in a known epigen

144 In this study, we identified a germline missense variant of PLCD1 encoding PLCdelta1, c

145 sterone (DHEA) to potent androgens and has a germline missense-encoding polymorphism.

146 rformed a tissue targeted genetic screen for germline modifiers of polyglutamine aggregation in muscl

147 Germline mosaicism is a mutation that is limited to the

148 naling pathways in these patients with RUNX1 germline-mutated AML.

149 Adult germline mutation accumulation rates are established in

150 In mice, introduction of a germline mutation at Bahcc1 to disrupt its H3K27me3 enga

151 The incidence of germline mutation carriers in the general population or

152 A germline mutation in CDH1 was identified in the index pa

153 astoma cases are heritable, resulting from a germline mutation in RB1.

154 In FD, a germline mutation in the Elp1 gene leads to Elp1 protein

155 ed from a Gorlin syndrome patient carrying a germline mutation in the sonic hedgehog (SHH) receptor P

156 We conclude that germline mutation rates in healthy young adults may prov

157 we evaluated the association between HOXB13 germline mutations and breast cancer risk in a previous

158 Cancers that arise from BRCA1 germline mutations are deficient for homologous recombin

159 ndent tumors in two children with pathogenic germline mutations by genotyping somatic mutations share

160 s expression, the inheritance of monoallelic germline mutations in breast cancer susceptibility gene

161 and ETV6) are the same as those that harbour germline mutations in children and adolescents who devel

162 patients had MBC with measurable disease and germline mutations in non-BRCA1/2 HR-related genes (coho

163 Similar to germline mutations in telomere biology genes leading to

164 hydrogenase-1 or -2 (IDH1 or IDH2) genes, or germline mutations in the fumarate hydratase (FH) and su

165 Individuals with germline mutations in the gene encoding phosphatase and

166 astoma is a rare pediatric cancer induced by germline mutations in the tumor suppressors RB1 or DICER

167 nd cast further doubt on the assumption that germline mutations track cell divisions.

168 None of the 5 most frequent germline mutations was identified in mosaic state.

169 All of the germline mutations were associated with a severe phenoty

170 finger motifs in GATA-1, such as produced by germline mutations, compromises the function of this cri

171 nd son) had co-occurrence of RUNX1 and CEBPA germline mutations, with variable AML disease onset at 5

172 tive options offered to women with high-risk germline mutations.

173 irst human disease related to potential TET2 germline mutations.

174 , were investigated to identify predisposing germline mutations.

175 s) circulate in the blood and migrate to new germline niches as they develop and this homing process

176 Germline nonsense and canonical splice site variants ide

177 In the germline, nuclear RNAi can lead to trans-generational ep

178 nuclear pore complex insertion into growing germline nuclei.

179 By analyzing the male germline of mice, we demonstrate that the genome-wide re

180 oss generations via both the male and female germlines of mammals.

181 syndrome in whom we identified heterozygous germline or mosaic missense variants in PRKACA or PRKACB

182 Of these patients, 93.7% had at least one germline or somatic aberration, 71.4% had therapeutic ta

183 variation may be classified in six ways: (a) germline or somatic origin, (b) class of DNA mutation (r

184 For patients with germline or somatic pathogenic or likely pathogenic vari

185 multiple factors, including factors from the germline or surrounding somatic tissue.

186 g-target analysis shows 1/3 of patients with germline P/LP variants have at least one druggable alter

187 Large germline panels and somatic testing were recommended for

188 f a patient with ovarian cancer with a known germline pathogenic cancer susceptibility gene variant s

189 In women who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant

190 The R337H is a TP53 germline pathogenic variant that has been associated wit

191 Germline pathogenic variants in chromatin-modifying enzy

192 An additional 61% have germline pathogenic variants in non-KCPG genes, includin

193 lian tumor predisposition disorder caused by germline pathogenic variants in the tumor suppressor NF2

194 der of the uveal melanoma patients with BAP1 germline pathogenic variants obtained from previous publ

195 models that are informed by both somatic and germline patterns of variation.

196 differentially methylated regions regulating germline, placental and tissue-specific transcription.

197 frequencies were found in individuals with a germline polymorphism preventing transcription of ENTPD1

198 After strict filtering to exclude common germline polymorphisms and sites with poor coverage or m

199 d to large cells: the stronger checkpoint in germline precursor cells also depends on PCH-2.

200 16, classification of myeloid neoplasms with germline predisposition for each of these and other gene

201 ncy > 0.3 of a deleterious allele in a known germline predisposition gene, and variant persistence id

202 as having independent lesions mediated by a germline predisposition.

203 concerted effort should be made globally in germline preservation of marine algal species via germpl

204 Five days following infection, germline Prkch (-/-) mice displayed enhanced viral clear

205 ny, including intron-less genes and inactive germline processed pseudogenes, with likely overlapping

206 -helix protein folds identified in essential germline proteins and are conserved in prokaryotes and e

207 cer predisposition disorders associated with germline PTEN mutations.

208 tcome was the proportion of individuals with germline PVs (LS PVs, high-penetrance PVs, and any PVs)

209 e from meiotic division errors in the female germline, quantitative studies that link the observed ph

210 Germline Ras-activating mutations have been known to con

211 of patients with retinoblastoma-those with a germline RB1 pathogenic variant-are at risk of pineal TR

212 y, these patients exhibited a number of rare germline RBBP8 variants.

213 milies to uncover potential risk factors for germline rearrangements leading to 22q11.2DS offspring.

214 e report varying probabilities of unexpected germline recombination in distinct Cre driver lines desi

215 Collated data reveal germline recombination in over half of 64 commonly used

216 Selective maternal or paternal germline recombination is showcased with sample Cre line

217 mmon transcriptional control elements affect germline recombination rates.

218 However, the mechanisms underlying germline regulatory divergence remain undetermined.

219 methylation during DNA replication promotes germline reprogramming and epigenetic variation in plant

220 ion of MAFR-1 expression specifically in the germline rescued the spermatid-related phenotypes, sugge

221 iRNA from the vegetative nucleus to the male germline, resulting in the release of heterochromatic si

222 ntified a somatic MEK2(P128L) mutation and a germline RUNX1(G60C) mutation in two patients with iMCD-

223 Interestingly, some of the near-germline SARS-CoV-2-neutralizing mAbs reacted with mamma

224 CPU days, followed by either Refined IBD or GERMLINE segment detection in 2.9 or 1.1 h, respectively

225 cursors, instead of computationally inferred germline sequences, to HIV broadly neutralizing antibodi

226 ceptors (BCRs) generally depend on "inferred germline" sequences, and thus their relationship to auth

227 ive tumour molecular features, underwent MMR germline sequencing.

228 vulnerability of DNA between the somatic and germline settings might be used to help identify disease

229 We assessed germline single-nucleotide polymorphisms (SNPs) in 180 m

230 While germline Smoc2 homozygous mutants are viable, tooth numb

231 Tumor cells used for NGS may contain germline, somatic, and clonal hematopoietic DNA alterati

232 eover, loss of the soma-specific (CSP-3) and germline-specific (CSP-2) caspase inhibitors result in C

233 the generative cell, and found that AGO9, a germline-specific AGO in Arabidopsis, is required for th

234 1a cell population does not preserve its IgM germline status in the aged mice.

235 stage, surgical resection, order of therapy, germline status, and molecular subtype, were explored.

236 The Drosophila male germline stem cell (GSC) lineage provides a great model

237 Germline stem cells (GSCs) circulate in the blood and mi

238 Here, we challenge the male germline stem cells (GSCs) of Drosophila melanogaster fo

239 We show that Drosophila female germline stem cells (GSCs) provide a powerful system for

240 major cell type in the ovary, including the germline stem cells and their niche cells, follicle stem

241 le, most mpk-1 ATS are iATS in hermaphrodite germline stem cells, but most are cATS in differentiatin

242 eterious mutations can be established in the germline, such as those in TP53.

243 ch B cells can be primed by eOD-GT8 60mer, a germline-targeting immunogen currently in clinical trial

244 ere, we compared the abilities of three such germline-targeting immunogens against the VRC01-class re

245 biophysical and biochemical features of the germline-targeting immunogens.

246 VRC01-class BCRs validate a central tenet of germline-targeting vaccine design and extend the overall

247 Germline telomere maintenance defects are associated wit

248 Germline testing (GT) is a central feature of prostate c

249 etic cell transplantation, or as a result of germline testing for inherited variants.

250 The current testing paradigm involves germline testing in a subset of patients determined to b

251 Broader germline testing in UC, particularly in those of young a

252 first reported cases of autosomal-recessive germline TET2 deficiency in humans, causing clinically s

253 a and delivered through gap junctions to the germline; there it is used in fatty acid synthesis to cr

254 might be involved in restricting the female germline to a single nucellus cell.

255 ism centers on the vulnerability of the male germline to oxidative stress and the induction of oxidat

256 For patients with germline TP53 mutations, mastectomy is advised; radiatio

257 In particular, we generate somatic and germline training models, which include genomic, epigeno

258 Analysis of germline transcripts, examination of double-stranded bre

259 We observed high rates of germline transmission (22-100%) for targeted knock-ins a

260 igs exhibit normal physiology, fertility and germline transmission of the 13 genes and 42 alleles edi

261 In the plant male germline, transposable elements (TEs) are reactivated in

262 This mouse was made by replacing the germline variable sequences of both the Ig heavy-chain (

263 ) and Ig kappa (IgK) loci with the human IgK germline variable sequences, producing antibody-like mol

264 so that individuals harboring a predisposing germline variant can undergo surveillance, which should

265 Germline variant detection using standard or deep learni

266 so heterozygous for a p.S460L (c.1379 G > A) germline variant in PLCD1 which is normally present in o

267 g an individual likely to have a deleterious germline variant include a strong family history or mult

268 always on the same chromosome as the p.S460L germline variant.

269 amework for identifying putative deleterious germline variants (pDGVs) from WES data.

270 ium (LD) patterns between two user-specified germline variants across geographic populations included

271 ere is no clear matched control for removing germline variants and systematic artifacts.

272 sting to receive information about potential germline variants and to allow future contact as researc

273 The presence of DDR germline variants could guide cancer screening for patie

274 sion, PRSs based on a small number of common germline variants emphasize the importance of heritable

275 neutral class, this method relied on benign germline variants found in the 1000 Genomes Project data

276 Germline variants have a rich history of being studied i

277 ic syndrome (MDS) families with 49 harboring germline variants in 16 previously defined loci (57%).

278 Remaining germline variants in a tumor-only setting and artifacts

279 Clinically significant P/LP germline variants in DDR genes frequently are present in

280 rome (LS) arises in patients with pathogenic germline variants in DNA mismatch repair genes.

281 uencing has identified a host of deleterious germline variants in key cardiomyocyte genes as causes o

282 , varying observed frequencies of pathogenic germline variants in patients with cancer, differential

283 lence of pathogenic/likely pathogenic (P/LP) germline variants in patients with UC and identify assoc

284 making, we identified nine likely pathogenic germline variants in SCAF4 including two splice-site and

285 reased burden of rare, predicted deleterious germline variants in TET2 in PAH patients of European an

286 p to 4% of the shared variants may represent germline variants leaked into somatic call sets.

287 Five common germline variants of RNF43 exhibited wild-type activity.

288 we hypothesized that the combined effect of germline variants that alter the structure, expression,

289 ic landscapes, including a high rate of CDH1 germline variants that may partially explain their aggre

290 P/LP germline variants were identified in 80 (14%) of 586 ind

291 Cancers harbor many somatic mutations and germline variants, we hypothesized that the combined eff

292 omatic call-sets leak appreciable numbers of germline variants, which is relevant to genomic privacy

293 needed to distinguish somatic and unfiltered germline variants.

294 or protein-based vaccines designed to elicit germline versions of neutralizing Abs.

295 erefore, be influenced by the distinction of germline versus somatic, rather than neutral versus dise

296 ed B cells in transgenic mice expressing the germline VH of the VRC01 antibody but diverse mouse ligh

297 , we sought to investigate the proportion of germline vs acquired RUNX1 mutations in this cohort.

298 In support of a role for MAFR-1 in the male germline, we found mafr-1 null males have smaller sperma

299 n of the germline from the soma provides the germline with an essential challenge: the need to erase

300 uripotent stem cells and rejuvenation of the germline with each generation.