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1 ined by genomic variants, both inherited and somatic.
6 nections between reproductive senescence and somatic aging and give an overview of the involvement of
8 tumor-suppressor' (EXITS) genes, we examined somatic alterations from >4,100 cancers across 21 tumor
12 find that RNA expression differs between the somatic and axonal compartments of the neuron, for both
15 wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in
16 terations conferring resistance, we observed somatic and insertional loss-of-function mutations in tr
17 s to be related to anisotropic growth of the somatic and neural elements following early development
21 l stress responses are linked to a number of somatic and psychiatric diseases, emphasizing the import
22 TUM DETERMINANT1) play a fundamental role in somatic and reproductive cell differentiation during ear
24 aphy revealed spectral dissociations between somatic and visual effects, and higher gamma connectivit
25 gesting that appropriate GA signaling in the somatic anther tissue is critical for male meiotic cell
27 lease (CICR) from the ER immediately beneath somatic, but not axonal or dendritic, plasma membrane.
30 Cell, Pae et al. (2017) show that GCL blocks somatic cell fate by specifically destroying the Torso R
34 nts multiple transposition bursts in a given somatic cell lineage that later contributes to different
37 pecificity determines iNKT function, we used somatic cell nuclear transfer to generate three lines of
40 the comprehension of the complex process of somatic cell reprogramming, many questions regarding the
42 hful resetting of the epigenetic memory of a somatic cell to a pluripotent state during cellular repr
43 Leydig and theca-interstitium) are two major somatic cell types in mammalian gonads, but the mechanis
44 ansgene expression in multiple primary human somatic cell types, thereby representing a highly attrac
47 rovides in vivo evidence that differentiated somatic cells can be reprogrammed into cancer initiating
48 nknown whether electrophysiologically-active somatic cells derived from separate germ layers can be i
49 ed to investigate the kinematic behaviour of somatic cells emerging from hESC differentiation and to
50 uki (2017) describe the direct conversion of somatic cells from both mice and humans into robust inte
53 referred mode of homologous recombination in somatic cells leading to an obligatory non-crossover out
55 A demethylation induced by XPC expression in somatic cells overcomes an early epigenetic barrier in c
57 ns unclear how intercellular signaling among somatic cells results in only one cell in the sub-epider
58 arily conserved archaic embryonic program in somatic cells that can be de-repressed for oncogenesis.
61 on, p53 regulation and cell proliferation in somatic cells, but its role in embryonic stem cells is u
66 Here, using Xenopus egg extracts and human somatic cells, we show that actin dynamics and formins a
67 m cells (ESCs) differs markedly from that in somatic cells, with ESCs exhibiting a more open chromati
70 gements known as chromoanagenesis, including somatic chromoanasynthesis, and extreme balanced germlin
73 ation between immune metagene expression and somatic copy number alteration levels (rho = -0.484, P =
79 and resulted in parallel evolution of driver somatic copy-number alterations, including amplification
80 cal intervention, in particular, because the somatic deletion of the CXCR4 gene in mice is embryonica
83 e BDMM identified further directly co-morbid somatic disorders, e.g. irritable bowel syndrome, fibrom
84 s ancestral vertebrate features, whereas the somatic diversification of structurally distinct antigen
87 outer hair cells and their singular feature, somatic electromotility, i.e., the ability of their cyli
88 ome genetic conservation between apogamy and somatic embryogenesis and that such asexual reproduction
91 M) genes in angiosperms are known to promote somatic embryogenesis, which like apogamy produce sporop
92 hen overexpressed by altering OSK targeting, somatic-enhancer inactivation, and pluripotency enhancer
93 We found that OSK predominantly bind active somatic enhancers early in reprogramming and immediately
94 the redistribution of somatic TFs away from somatic enhancers to sites elsewhere engaged by OSK, rec
95 during consecutive cycles of sound stimuli, somatic EPSP normalization renders spike initiation more
96 ur findings demonstrate that PGCCs represent somatic equivalents of blastomeres, the most primitive c
97 ce that in addition to sexual recombination, somatic exchange can play a role in the emergence of new
98 the prefrontal cortex display higher gain of somatic excitability, responding with a higher number of
100 nd base-excision repair are important in the somatic expansion of repeated sequences in mouse models
101 odels of trinucleotide repeat disorders, and somatic expansion of the expanded CAG tract in HTT corre
104 gramming requires DNA methylation to silence somatic gene expression and dynamic DNA demethylation to
106 from the release of selective constraint on somatic gene networks in embryogenesis, thus leading to
108 -Cas9 genome editing and transposon-mediated somatic gene transfer to demonstrate that expression of
109 new concept of metabolic disease modeling by somatic genome editing could be applied to many other sy
111 proach to nominate heritable facilitators of somatic genomic events in the context of the androgen re
117 ould impose significant long-term effects on somatic growth, energy homeostasis and metabolic functio
118 port, lambs on the system demonstrate normal somatic growth, lung maturation and brain growth and mye
120 known whether L1 can retrotranspose in other somatic healthy tissues or if L1 mobilization is restric
121 rsification occurs when Ig V regions undergo somatic hypermutation (SHM) and affinity-based selection
122 ool, the immune repertoire pipeline, and the somatic hypermutation (SHM) and class switch recombinati
123 munoglobulin (Ig) genes to initiate antibody somatic hypermutation (SHM) and class switch recombinati
124 es both class switch recombination (CSR) and somatic hypermutation (SHM) in antibody diversification.
126 70% of cases (107/154) bearing an imprint of somatic hypermutation (SHM) ranging from minimal to pron
127 enhanced the expression of AID and increased somatic hypermutation and chromosomal translocation freq
128 nd achieved breadth with only 10% nucleotide somatic hypermutation and no insertions or deletions.
130 Unexpectedly, we discover high levels of somatic hypermutation in infants as young as 3 months ol
131 ntibody clonal lineage analysis reveals that somatic hypermutation levels are increased in both infan
132 oire diversification in infants and toddlers.Somatic hypermutation of antibodies can occur in infants
134 tion-induced (cytosine) deaminase to promote somatic hypermutation on both DNA strands to generate do
136 n germinal centers (GC), underwent extensive somatic hypermutation, and differentiated into memory B
137 daptive immunity is driven by the expansion, somatic hypermutation, and selection of B cell clones.
138 of the tract and have higher frequencies of somatic hypermutation, suggesting extensive and serial r
143 l renal carcinomas (ccRCCs) are initiated by somatic inactivation of the VHL tumor suppressor gene.
144 By operating through dendritic and not just somatic inhibition, SOM-mediated oscillations may expand
146 of a newly developing ECD lesion revealed a somatic KRAS(Q61H) mutation without the presence of BRAF
147 o consider the possible biological impact of somatic L1 insertions in neurons, the existence of donor
148 xpression and function, indicating that many somatic lineage programs are actively and persistently r
151 us to identify an additional 22 tumors with somatic loss of BRCA1 or BRCA2 and 47 tumors with functi
153 7 (-7), deletions of 7q (7q-), and secondary somatic loss-of-function (nonsense and frameshift) mutat
154 energetic resources are directed more toward somatic maintenance and proteostasis, and away from cell
156 PMS2 variant; 9 patients (18.8%) had double somatic MMR mutations (including 2 with germline biallel
160 s, these findings suggest that the degree of somatic mosaicism and the impact of L1 retrotranspositio
162 These findings reveal a large degree of somatic mosaicism in healthy human tissues, link de novo
164 issues, link de novo and cancer mutations to somatic mosaicism, and couple somatic mosaicism with cel
165 o tools: MSMuTect, for accurate detection of somatic MS indels, and MSMutSig, for identification of g
167 Loss of Drosophila miR-1 produces defects in somatic muscle and embryonic heart development, which ha
170 these antibodies demonstrate high degrees of somatic mutation and other unique characteristics that m
172 is generated by integrating the CNV data and somatic mutation data, and a mutation network is constru
173 alts and PARP inhibitors, the data regarding somatic mutation for prediction of drug sensitivity rema
177 we found evidence of time-varying effects of somatic mutation load on PFS in this cohort (n = 25, p =
179 uencing, have identified gene expression and somatic mutation profile subsets of TNBC that reflect bi
180 en species, but much less is known about the somatic mutation rate in multicellular organisms, which
183 on between tumor differentiation and overall somatic mutational burden, which also likely explains th
184 ncing, we validate the concordance of clonal somatic mutations (88%), copy number alterations (80%),
185 -centric' method for identifying clusters of somatic mutations across entire gene families using prot
188 upled to chromatin structure, we examine how somatic mutations are distributed across boundaries and
189 utations in cancer, yet efforts to correlate somatic mutations found in one or few individuals with f
190 ase-substrate interaction modules altered by somatic mutations identified by KNMPx were significantly
192 eration sequencing (NGS) genomic testing for somatic mutations in breast oncology has been slower tha
196 ematopoiesis (CH), as evidenced by recurrent somatic mutations in leukemia-associated genes, commonly
199 2-HG, mIDH2 allele burden, and co-occurring somatic mutations in sequential patient samples from the
200 SIRT2's tumor-suppressive function in which somatic mutations in SIRT2 contribute to genomic instabi
201 ignant clones are characterized by recurrent somatic mutations in specific sets of genes, but the dir
204 a rare histiocytic neoplasm associated with somatic mutations in the genes involved in the RAF/MEK/e
206 Although previous studies have characterized somatic mutations in this disease, a rigorous comparison
207 generation sequencing has revealed recurring somatic mutations in Waldenstrom macroglobulinemia (WM).
208 for bulk-tumor sequencing data that clusters somatic mutations into clones and infers a phylogenetic
209 y promoter methylation, copy number loss, or somatic mutations is associated with defective MHC class
212 equences and structures, we demonstrate that somatic mutations occur frequently at position 83, with
214 The primary end point was the incidence of somatic mutations of the RAS, BRAF, and EGFR genes and a
215 in prostate adenocarcinoma (PC), via either somatic mutations or mRNA downregulation, suggesting an
218 an algorithm to predict NMD and apply it on somatic mutations reported in The Cancer Genome Atlas.
221 ing technologies have allowed us to identify somatic mutations that initiate BE and track genetic cha
222 evelopmental disorders caused by germline or somatic mutations that occur in genes regulating the PI3
223 , detailed analyses of spontaneously arising somatic mutations that recover CD247, and thus TCR expre
225 atients underwent searches for germ line and somatic mutations using next-generation sequencing techn
228 ive' genes which were frequently targeted by somatic mutations, copy number alterations, DE and AS, i
229 ber variations (CNV), gene- or pathway-level somatic mutations, or germline polymorphisms (SNP) are a
233 served mutual exclusivity among tumours with somatic NF-kappaB pathway aberrations and LMP1-overexpre
235 etic analysis revealed neither germ line nor somatic NLRP3, TNFRSF1A, NLRC4, or NOD2 mutations, apart
237 s in a modality-dependent manner, modulating somatic noxious heat pain, but is not required for visce
239 to an acute Q fever infection, without other somatic or psychiatric comorbidity explaining the fatigu
240 required for sensing acute and inflammatory somatic pain in mice and humans but its significance in
241 cators for both ions were loaded through the somatic patch pipette, which also recorded electrical re
242 ogramming and SMC lineage differentiation of somatic patient cells with germline mutations was a viab
245 ng advantage of naturally occurring X-linked somatic PIGA mutations in hematopoietic stem and progeni
247 mic analyses of human cancers have cataloged somatic point mutations thought to initiate tumor develo
249 cer (OV), the bulk of genetic changes is not somatic point mutations, but rather somatic copy-number
253 n CUP and that most patients harbor a unique somatic profile with pharmacologically actionable altera
257 trate the utility of this approach to detect somatic retrotransposition events in high-grade ovarian
261 A rats again developed naloxone-precipitated somatic signs of withdrawal and spontaneous withdrawal-i
263 ole-genome sequencing to perform genome-wide somatic single-nucleotide variant (sSNV) identification
264 d 15 EGFR-TKI-resistant patients to identify somatic SNVs, small indels, CNVs and gene fusions in 508
265 perior and inferior colliculi, but potential somatic specializations indicate that the somatosensory
267 the potent combination of psychotherapy and somatic stimulation in treating symptoms of endometriosi
268 translocations as well as a constellation of somatic structural DNA alterations in acute lymphoblasti
271 n most sexually reproducing plants, a single somatic, sub-epidermal cell in an ovule is selected to d
272 ly applied to breast cancer data to identify somatic SVs of key factors associated with breast cancer
273 sample, enabling the identification of those somatic SVs with heterozygous mutations in normal sample
277 enome-wide by inducing the redistribution of somatic TFs away from somatic enhancers to sites elsewhe
278 enes, not directly associated with embryonic somatic tissue genesis, is the one that encodes the spec
279 across adults and differences in TL between somatic tissues are largely established in early life.
281 A synthesis and mobilization by lipolysis in somatic tissues on oocyte fate in Caenorhabditis elegans
282 ing, we find that mitochondria of many adult somatic tissues, including brain, heart, and kidneys, ar
287 r from a c.104T>C carrier revealed a second, somatic, truncating mutation affecting PALB2, and the tu
288 Additional research related to variations in somatic tumor genomics between the African-American and
289 nostic biopsy to detect clonally represented somatic tumor mutations and is a real-time and noninvasi
290 s in mutation loads were seen with different somatic variant calling methodologies, which, in turn, i
293 val biopsy samples from 17 patients, we used somatic variants in hypermutable DNA regions to reconstr
294 Myeloid mutation panels have identified somatic variants in patients with a provisional diagnosi
296 associated variants and previously described somatic variants in vascular overgrowth syndromes, we em
298 ing has proven valuable for the detection of somatic variation, particularly in the context of tumor
299 Although cancer is typically associated with somatic variations, advances in DNA sequencing indicate
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