ライフサイエンスコーパス: germline

1 nome and its stable transmission through the germline.

2 that has extensively colonized the mammalian germline.

3 retrotransposon activation in the mammalian germline.

4 gans and reveal a new role for miRNAs in the germline.

5 hancing their inheritance through the female germline.

6 expressed in extraembryonic tissues and the germline.

7 ng epigenetic reprogramming in the mammalian germline.

8 ch is committed to giving rise to the female germline.

9 having >30 mutations from mammalian antibody germlines.

10 Inherited germline ABL1 changes have not been associated with gene

11 s phenocopy knockout mice with male specific germline ablation but other aspects of testicular develo

12 tion caused by chemotherapy, carcinogens, or germline alterations.

13 ancer were referred by their oncologists for germline analysis of 76 cancer predisposition genes.

14 rotransposon class on gene expression in the germline and beyond.

15 ate MIWI2-dependent functions outside of the germline and demonstrate the presence of distinct subset

16 uniformity of genetic drivers upon identical germline and environmental background.

17 and transcriptional control, we constructed germline and inducible-conditional Oct1-deficient ESC li

18 expression of DUO1 is restricted to the male germline and is first detected shortly after the asymmet

19 (piRNAs) are predominantly expressed in the germline and play crucial roles in germline development

20 In Tetrahymena, the germline and soma are partitioned into two different nuc

21 nces in X dosage compensation states between germline and soma offer unique perspectives on sex chrom

22 could be traced to processes that coordinate germline and somatic function.

23 ional sites, the SNV pattern differs between germline and somatic mutations as well as between synony

24 Here, we generated germline and somatic reference genome sequences of the D

25 WI subfamily that is mainly expressed in the germline and that mediates RNAi through piRNAs.

26 biallelic mutation in TSC2, one of which was germline and the second acquired in the melanocytes of t

27 In other cancer types, germline and/or somatic mutations in BRCA1 and/or BRCA2

28 o provide high-confidence annotated somatic, germline, and de novo variants of potential biological s

29 required for chromatin reprogramming in the germline, and the transcriptome of PGCs lacking PRC2 res

30 s present in epidermal cells, but not in the germline, and, through TAS3-derived ta-siRNA, restricted

31 unogenetic analysis indicates that m826 is a germline antibody, and m826-like sequences can be identi

32 01-restricted TCR that recognized the cancer germline antigen, MAGE-A3 (melanoma-associated antigen-A

33 cted against mutated neoantigens or a cancer germline antigen, rather than canonical viral antigens.

34 functionally redundant sterility, increased germline apoptosis, DNA repair defects, and interactions

35 e required for broad antiviral activity, and germline-approximating variants display enhanced GPCL re

36 We find that neurons and the germline are required for male pheromone-dependent male

37 Aquarius physically interacts with the germline Argonaute HRDE-1.

38 Here, we used the C. elegans germline as a model for identifying molecular mechanisms

39 How the germline avoids transmitting damage from one generation

40 terogeneity in the activation of the lineage germline B cell.

41 All carriers of inherited heterozygous germline BAP1-inactivating mutations (BAP1(+/-)) develop

42 uble somatic MMR mutations (including 2 with germline biallelic MUTYH mutations); and 1 patient had s

43 ce in self-reactivity was independent of the germline bias of the neonatal TCR repertoire.

44 eduction in health disparities in women with germline BRCA mutations.

45 BC) shares histological characteristics with germline BRCA1 mutation-associated tumours.

46 ast cancer, of whom 22 were known to carry a germline BRCA1 or BRCA2 mutation, allowed us to identify

47 Purpose Germline BRCA1 or BRCA2 mutations in patients with high-

48 efit for patients with ovarian cancer beyond germline BRCA1/2 carriers.

49 of HGSOC tumors from three patients without germline BRCA1/2 mutations who experienced exceptional r

50 athway in Tribolium is not restricted to the germline, but also operates in the embryo and may act to

51 of the subtle Foxp3 mutations into the mouse germline by CRISPR-based genome editing.

52 Conclusion Germline cancer susceptibility gene mutations are carrie

53 tal cancer (CRC) risk, yet the prevalence of germline cancer susceptibility gene mutations in patient

54 lyses involving 15 samples with a variety of germline, cancer and stem cell data sets.

55 Conditional ablation of Raptor in the male germline causes infertility due to meiotic arrest and im

56 te endogenous forms on infiltration into the germline cells of their hosts.

57 n piRNA biogenesis in Drosophila somatic and germline cells.

58 Here we review germline changes in human NR genes associated with "mono

59 tic chromoanasynthesis, and extreme balanced germline chromothripsis events involving up to 65 breakp

60 Germline coding mutations in different telomere-related

61 The targeted PGCs were germline competent and were used to produce DDX4 null of

62 ividuals, 138 (27%) were found to carry this germline compound deletion, with somatically decreased t

63 quencing strategy and identified an in-frame germline compound heterozygous deletion, p.[Gln1478del];

64 of GSCs upon the inactivation of E(z) in the germline could be attributed to defective dedifferentiat

65 omen and highlight the importance of how the germline could inform risk for specific tumour mutation

66 ransposition in the pluripotent phase of the germline cycle.

67 us on collective cell behavior in the female germline cyst in Drosophila melanogaster, a stereotypica

68 logistic regression analysis of clinical and germline data from 18,734 individuals who were tested fo

69 with basal cell nevus syndrome (BCNS) harbor germline defects in PTCH1 and develop up to hundreds of

70 As germline deletion of the gene encoding LAP1 is perinatal

71 ing-induced death, which is characterized by germline-dependent shrinking, glycogen loss, and ectopic

72 ed in the germline and play crucial roles in germline development by silencing transposons and other

73 lucidated critical roles of Piwi proteins in germline development in animals, but whether Piwi is an

74 M hybrid dysgenesis, a syndrome that affects germline development in Drosophila.

75 echanism that is fundamentally important for germline development.

76 and has not previously been associated with germline disorders.

77 histories, tumor phenotypes, and results of germline DNA sequencing.

78 Germline DNA was tested for mutations in 25 cancer susce

79 P repeat recognition was largely mediated by germline encoded and immunoglobulin (Ig) heavy-chain com

80 determining specificity for antigen, the non germline encoded elements of T cell receptors may help t

81 of T cell receptors is affected both by the germline encoded elements of the T cell receptor alpha a

82 f TCR repertoire, molecular evidence for the germline encoded TCR bias for MHC, and for the corecepto

83 alic acid-bearing glycans were recognized by germline-encoded and somatically mutated residues on the

84 (b)-GAP5040-48 ternary complex revealed that germline-encoded complementarity-determining region 1bet

85 Germline-encoded mycolyl lipid-reactive (GEM) T cells ar

86 We therefore conclude that germline ENPP1 cysteine-specific mutations, primarily af

87 To discover germline events involved in prostate cancer predispositi

88 ins, and missense and promoter mutations, or germline events, in 41% of patients.

89 w that DNA elimination in nematodes silences germline-expressed genes.

90 We attempted to use the germline-expressed Vasa-Cre transgene to engineer a mous

91 ee copies of the motif DNGTGGV, required for germline expression and tandem repeats of the motif YAAC

92 In general, in vivo germline expression of Cas9 results in substantially hig

93 oA synthetase and its FA-CoA product, as key germline factors that mediate the role of FA in promotin

94 pole, including determinants of somatic and germline fates.

95 Here we show the consequences of germline final-exon-truncating mutations in REST for org

96 Germline findings led to discussion or initiation of cha

97 Our results uncover key steps in C. elegans germline formation and define a set of conserved regulat

98 cy questions, it is inappropriate to perform germline gene editing that culminates in human pregnancy

99 Once differentiation commences, these germline genes are activated to enable the progression o

100 omplex 1 (PRC1) directs timely activation of germline genes during spermatogenesis.

101 During spermatogenesis, a large number of germline genes essential for male fertility are coordina

102 together occupy transcription start sites of germline genes in the stem cell population.

103 However, one group of germline genes, not directly associated with embryonic s

104 65057 patients with breast cancer receiving germline genetic testing of cancer predisposition genes

105 vations: While there is an emerging role for germline genetic testing potentially predicting sensitiv

106 ting RNA biogenesis factor that protects the germline genome and ensures normal sperm production in m

107 tly, there is no reason to prohibit in vitro germline genome editing on human embryos and gametes, wi

108 (3) Future clinical application of human germline genome editing should not proceed unless, at a

109 ilencing and spermatogenesis, protecting the germline genome in mice.

110 gs demonstrate both the privileged status of germline genome integrity and species-specific differenc

111 a vital role in protecting the integrity of germline genomes of animals.

112 tients could be improved by considering both germline genotypes and tumor specific mutations and expr

113 Using germline genotypes, the heritability of breast cancer su

114 s the activation of naive B cells expressing germline (gl) antibody precursors that have the potentia

115 CSR is preceded by inducible germline (GL) transcription of the constant genes and is

116 Germline H255Y and K508R missense mutations in the folli

117 We examined the impact of germline heterozygous frameshift Chd8 mutation on neurod

118 se data provide the first demonstration that germline, hypomorphic mutations in FDXR cause a novel mi

119 Dimitrov's group reported that the inferred germline (iGL) forms of several HIV-1 broadly neutralizi

120 The germline immunoglobulin (Ig) variable heavy chain 4-34 (

121 to reenter the cell cycle and regenerate the germline in a timely manner.

122 is the origin of mesodermal lineages and the germline in many spiralians.

123 has been extensively used to manipulate the germline in zygotes, its application in postnatal gene e

124 Germline inactivation of one allele of the SLN gene norm

125 ine model for cancer, in which activation of germline (including meiosis) functions drive oncogenesis

126 A new study reveals that the primordial germline is a hideout for retrotransposon transcripts, p

127 DNA methylation in the germline is among the most important factors influencing

128 However, Prdm16 germline knockout mice died neonatally, preventing us fr

129 Germline knockout of both paralogs in mice results in ea

130 Surprisingly, mice with germline knockout of Lgr6 are predisposed to SCC develop

131 repressive chromatin marks in the mammalian germline leads to risk of transcriptional activation of

132 Our results reveal that germline-limited sequences can encode genes with specifi

133 n-host evolution, or the establishment of a 'germline' lineage of viruses that avoids short-sighted e

134 When crossed into germline liver fatty acid (FA) binding protein null mice

135 Germline loss of Tmem18 in mice resulted in increased bo

136 data provide a model for human patients with germline loss-of-function mutations in Wnt pathway genes

137 Decision curve analysis supported germline LS testing for PREMM5 scores >/= 2.5%.

138 ed disorders which are difficult to study by germline manipulation.

139 eft ventricular hypertrabeculation/LVNC with germline MIB2 variants resulting in altered NOTCH signal

140 regulatory functions contribute to a soma-to-germline model for cancer, in which activation of germli

141 We screened 36,530 third-generation germline mutant mice derived from N-ethyl-N-nitrosourea-

142 is limited by the need to generate and cross germline mutant mice.

143 y outcome was identification of a pathogenic germline mutation associated with cancer predisposition.

144 Genetic screening for a germline mutation at the RET gene was performed in 11 fa

145 t clinical utility of baseline WBMRI in TP53 germline mutation carriers and may form an integral part

146 prevalence of SDHA, TMEM127, MAX, and SDHAF2 germline mutation carriers from 1993 to 2016.

147 oma viral oncogene homolog (KRAS)-variant, a germline mutation in a microRNA-binding site in KRAS, is

148 loping colorectal tumors (CRTs) because of a germline mutation in one of their mismatch repair (MMR)

149 Caused by a germline mutation in the NF1 tumor suppressor gene, indi

150 sk to an individual of carrying a pathogenic germline mutation in three mismatch repair (MMR) genes:

151 phenomenon where the pathogenic effect of a germline mutation is corrected by a second somatic event

152 Germline mutation of BRCA2 induces hereditary pancreatic

153 Germline mutation of the BRCA1 associated protein-1 (BAP

154 The germline mutation rate has been extensively studied and

155 us to make the first direct comparison with germline mutation rates in these two species.

156 ts with breast cancer in the NYBCS carried a germline mutation responsible for their disease: 11.0% (

157 We introduce Germline Mutation Scoring Tool fOr Next-generation sEque

158 To determine whether BRCA1 and BRCA2 germline mutation status affects therapy response in pat

159 Whether BRCA1 and BRCA2 germline mutation status affects treatment outcome remai

160 uvant treatment according to BRCA1 and BRCA2 germline mutation status.

161 nts with pancreatic cancer had a deleterious germline mutation, 31 (3.5%) of which affected known fam

162 led heterozygosity for the recurrent de novo germline mutation, c.148G > A, p.Asp50Asn.

163 ning patients with a history suggestive of a germline mutation.

164 riampullary neoplasms also had a deleterious germline mutation.

165 Only 43 of the 85 subjects with germline mutations associated with a hereditary cancer s

166 py regimen, patients without BRCA1 and BRCA2 germline mutations benefited from the addition of carbop

167 d individual-derived iPSCs showed that these germline mutations caused aberrant splicing of the endog

168 rogenase genes (SDHx) co-occurring with PTEN germline mutations confer a 2-fold increased prevalence

169 Purpose Deleterious germline mutations contribute to pancreatic cancer susce

170 The biology of neoplasia caused by germline mutations has led to paradigm-changing precisio

171 blood samples were genotyped for somatic and germline mutations in APC and CTNNB1.

172 Patients with germline mutations in BAP1 may develop several flesh-col

173 Our results indicate that germline mutations in both coding and noncoding regions

174 DNA samples were analyzed for germline mutations in BRCA1, BRCA2, and 16 other cancer

175 amilies with a history of CRC, we associated germline mutations in BRF1 with predisposition to CRC.

176 Germline mutations in CDKN2A are frequently identified a

177 The role of germline mutations in children and adults with hematolog

178 Germline mutations in established moderately or highly p

179 sonalize HR directed therapies in the clinic.Germline mutations in homologous recombination (HR) DNA

180 llows for the detection of BRCA and non-BRCA germline mutations in individuals with high risks of bre

181 ng in the four remaining families identified germline mutations in noncoding sequences surrounding AC

182 iated with risk for colorectal cancer (CRC); germline mutations in NTHL1, RPS20, FANCM, FAN1, TP53, B

183 Methods To define the prevalence of these germline mutations in patients with apparently sporadic

184 e (CS), a disorder typically associated with germline mutations in PTEN.

185 Germline mutations in Ras pathway components are associa

186 Germline mutations in SPRTN cause Ruijs-Aalfs syndrome (

187 ifetime cancer risks conferred by pathogenic germline mutations in that gene.

188 HDGC, which is mainly caused by germline mutations in the E-cadherin gene (CDH1), render

189 Germline mutations in the gene encoding tumor suppressor

190 Lynch syndrome, caused by germline mutations in the mismatch repair genes, is asso

191 ent protocol for the generation of heritable germline mutations in the parasitoid jewel wasp, Nasonia

192 minant, hereditary cancer disorder caused by germline mutations in the RET (formerly MEN2A, MEN2B) pr

193 Prevalence and spectra of germline mutations in the SDHA, TMEM127, MAX, and SDHAF2

194 Somatic or germline mutations in the tuberous sclerosis complex (TS

195 ical management guidelines for patients with germline mutations in these 4 newly included genes are l

196 ar, generating several independent heritable germline mutations in this gene.

197 In humans, germline mutations in Trpm6 cause autosomal dominant hyp

198 Individuals with germline mutations of C/EBPepsilon fail to develop norma

199 ] age, 41.0 [13.3] years), 58 (6.0%) carried germline mutations of interest, including 29 SDHA, 20 TM

200 The mechanisms by which SMARCB1 germline mutations predispose to rhabdoid tumors versus

201 so featured GATA4 loss of function via GATA4 germline mutations that abrogated GATA4 interactions wit

202 ifferentiation of somatic patient cells with germline mutations was a viable approach to generate LAM

203 Patients with these germline mutations were younger than those without (mean

204 to determine a potential association of LoF germline mutations within the FANCM gene with BC and/or

205 families where probands lacked nonsynonymous germline mutations, especially in genes intolerant to mu

206 e and model the pathogenicity of these CDK10 germline mutations, we generated conditional-knockout mi

207 ing was performed using primers that flanked germline mutations, whose design did not rely on prior k

208 has potential for the targeted correction of germline mutations.

209 nocarcinoma line derived from a patient with germline MUTYH mutation.

210 e, even within individuals who bear the same germline NF1 gene mutation.

211 We identified 100% of the germline NF1 mutations and found somatic NF1 inactivatio

212 We show that signature 30 can arise from germline NTHL1 mutations.

213 lear RNAi but instead requires both maternal germline nuclear RNAi and chromatin-modifying activity.

214 We find that silencing is dependent on germline nuclear RNAi factors and post-transcriptional m

215 Mitosis and meiosis of the germline nucleus and amitotic division of the somatic nu

216 ction and gene expression, condensins of the germline nucleus and the polyploid somatic nucleus are c

217 that prefigures germ cells and specifies the germline of descendants in the fertilized egg.

218 53 gene status in sporadic tumors and in the germline of individuals at high risk of cancer due to Li

219 ndogenous Deltaretrovirus, identified in the germline of long-fingered bats (Miniopteridae).

220 ey feature of syncytial architectures in the germline of most metazoans.

221 rited intracellular bacteria that infect the germline of numerous invertebrate species worldwide.

222 osaicism also affecting the gametes, such as germline or gonosomal mosaicism, is transmissible.

223 approved for recurrent ovarian cancers with germline or somatic mutations in BRCA1/2.

224 s group of developmental disorders caused by germline or somatic mutations that occur in genes regula

225 ion of how antibodies derived from different germline origins arrive at equivalent immunological solu

226 Germline pathogenic variants in BRCA1 and BRCA2 predispo

227 gene- or pathway-level somatic mutations, or germline polymorphisms (SNP) are associated with immune

228 we identify a lysosomal switch that enhances germline proteostasis before fertilization.

229 Our findings are consistent with a germline recurrent mutational hotspot associated with an

230 signatures identified previous treatment and germline replication repair deficiency, which improved m

231 ur results indicate that both antibodies use germline residues to interact with a conserved surface o

232 c Ae. aegypti strains expressing Cas9 in the germline, resulting in dramatic improvements in both the

233 Unexpectedly, germline-reverted CA45, while exhibiting negligible bind

234 aging-based early detection research in high-germline risk for pancreatic neoplasia, elucidating earl

235 res Dead-end 1 (Dnd1), a vertebrate-specific germline RNA-binding protein.

236 und that differentially-fated progeny of 4d (germline, segmental mesoderm, growth zone) display signi

237 ger CDR3 regions and greater divergence from germline sequence than do effector-memory phenotype cell

238 Coupling inherited germline silencing to somatic silencing may enable selec

239 blast lineage recapitulates the phenotype of germline Smurf2-deficient mice, indicating that SMURF2 r

240 lyzed RNA-Seq, DNA copy number, mutation and germline SNP data of 627 ER(+), 207 HER2(+), and 191 tri

241 ntion trial, and insights into the intricate germline-somatic-immunity interaction landscape.

242 Male mice with a germline-specific deletion of Utf1 resulting from Prdm1-

243 pair efficiency by activating an endogenous, germline-specific DNA repair response.

244 the legume Medicago truncatula directs male germline-specific expression in Arabidopsis, demonstrati

245 tify key promoter sequences required for the germline-specific regulation of DUO1 transcription.

246 mall-RNA pathway in the regulation of female germline specification in Arabidopsis.

247 and in pluripotent embryonic cells, prior to germline specification, yet the frequency and predominan

248 nge of developmental processes, ranging from germline stem cell division to epithelial tissue homeost

249 receptor on adjacent germ cells to maintain germline stem cell fate.

250 de in the gonadal distal tip cell (DTC), the germline stem cell niche, where it negatively regulates

251 re required for the late larval expansion of germline stem cell progenitors in the C. elegans gonad.

252 allel to Notch signaling, a key regulator of germline stem cell proliferation and differentiation.

253 receptor (IIR) signaling pathway to promote germline stem cell proliferation.

254 ere, we describe a function for autophagy in germline stem cell proliferation.

255 Although it is highly expressed in germline stem cells (GSCs) and early progeny, it remains

256 ide the behavior and differentiation of both germline stem cells (GSCs) and somatic follicle stem cel

257 lized the ability of Drosophila melanogaster germline stem cells (GSCs) to survive exposure to low do

258 ale-specific expression in early germ cells, germline stem cells and spermatogonia in insects, and it

259 A motor protein called Klp10A ensures that germline stem cells in male fruit flies divide to produc

260 ssembly algorithm that discovers somatic and germline structural variation breakpoints in whole-genom

261 tion hotspots were enriched in breast cancer germline susceptibility loci (odds ratio (OR) = 4.28) an

262 Germline susceptibility variants displayed low prognosti

263 a particularly relevant issue for candidate germline-targeting HIV vaccine designs because of the in

264 interclonal GC competition and indicate that germline-targeting immunogens can overcome these challen

265 ctive in eliciting bNAbs and has led to the "germline-targeting" immunization approach.

266 All participants underwent germline testing for mutations in 25 genes associated wi

267 engage and activate a more divergent set of germlines than fully glycosylated Env.

268 lls in their lineage with respect to that of germline, thereby coordinating the proliferation of two

269 we deleted the entire gene cluster in mouse germline through homologous recombination.

270 the sole treatment-resistant metastasis, and germline tissue to explore mechanisms of immunotherapy s

271 me uniquely increases the sensitivity of the germline to DNA damage, thereby protecting the integrity

272 ncing programmed genome rearrangement during germline to soma differentiation.

273 To assess the clinical utility of WBMRI in germline TP53 mutation carriers at baseline.

274 that incorporated WBMRI for individuals with germline TP53 mutations from January 1, 2004, through Oc

275 en with adrenocortical tumors (ACTs) without germline TP53 mutations have not been systematically stu

276 s and outcomes of children with ACTs without germline TP53 mutations overlapped those reported for ch

277 overlapped those reported for children with germline TP53 mutations.

278 ed medical records of patients with LFS with germline TP53 p.R337H mutation.

279 In contrast, germline transcript promoter:3'Ealpha looping interactio

280 n, inhibits CSR without affecting either IgH germline transcription or joining of DSBs within S regio

281 cleotides) in 4.4-25.7% of F0 tadpoles, with germline transmission.

282 arrangements of mature bnAbs or unrearranged germline V, D, J segments (that can be assembled into va

283 er, the method must be extended to allow for germline variant filtering and heterozygous deletion det

284 Here we report ABL1 germline variants cosegregating with an autosomal domina

285 Germline variants have also been found in familial cutan

286 using a multigene panel detected actionable germline variants in 6 patients (5%).

287 ts tended to have higher frequencies of rare germline variants in albinism genes such as TYR, TYRP1,

288 e the risks of breast cancer associated with germline variants in cancer predisposition genes.

289 rol exome-wide association study to discover germline variants in coding regions that affect risk for

290 Germline variants in succinate dehydrogenase genes (SDHx

291 Unexpected germline variants involved PALB2 and CHEK2.

292 risk of distinct breast cancer subtypes for germline variants supports heterogeneity in etiology and

293 We also report a list of germline variants that are associated with increased tum

294 Putative pathogenic germline variants were present in 12.2% of cases of whic

295 ental reads for NA24385, an individual whose germline variants were well characterized.

296 indings provide new insight into the role of germline variation in the IGH locus in disease susceptib

297 and silencing of sex chromosomes in the male germline, which may explain the infertility that has bee

298 oans, these are preferentially active in the germline, which, in turn, mounts defenses that restrain

299 The development of the male germline within pollen relies upon the activation of num

300 Thus, germline X dosage compensation states are determined by