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1 cell lines whether or not JAKs or STATs were mutated.
2 antly altered when the controlling factor is mutated.
3 that is associated with megalencephaly when mutated.
4 erine (Ser) and threonine (Thr) residues are mutated.
5 related receptor response element sites were mutated.
6 quired for ATR-mediated phosphorylation were mutated.
7 MECP2 (methyl CpG-binding protein 2) gene is mutated.
8 f-concept, we used these advances to rapidly mutate 10 high-affinity binding sites for the nucleoid o
9 ranscriptional function was abolished in the mutated 231 G521R ER cells despite appropriate receptor
10 specific mutations in the Il1a gene, we also mutated a long-noncoding (lnc)RNA in the complementary s
11 hose activities are stimulated by AKT, or by mutating a residue in MRE11 that we show is phosphorylat
12 irst independently, and then simultaneously, mutating a transcription factor and the associated promo
13 deno-associated virus (AAV) 1/2-driven human mutated A53T alpha-synuclein (aSyn)-overexpressing PD ra
14 at three of these elements are significantly mutated across multiple cancer types and have mutation d
15 ial ubiquitin ligases and effectors that are mutated across neurodegenerative diseases; accordingly,
16 w genes (TP53, ATRX, RB1) highly recurrently mutated across sarcoma types; (2) within sarcoma types,
18 patients with FLG wild-type AD (WT/WT), FLG-mutated AD (FLG/WT), IV (FLG/FLG), or FLG WT control ski
19 ns incompletely understood, as, for example, mutating all Tyr1 residues to Phe (Y1F) is lethal in ver
20 terferon and ruxolitinib showed reduction of mutated allele burden, and ruxolitinib might extend surv
21 mized droplet digital PCR to broadly measure mutated alleles of recurrently mutated genes in CR marro
22 tions: p.Phe223Leu in Africans (23.5% of all mutated alleles), p.Gln263X and p.Leu424CysfsX in East A
23 egulated by the C-box YSY motif, which, when mutated, alters species stoichiometry and proteasome-dep
24 single allele knock-in of the most commonly mutated amino acid residue, tyrosine 537, in the estroge
25 n younger patients with newly diagnosed FLT3-mutated AML, but yielded no overall clinical benefit.
31 e report that ZNF750 is exclusively deleted, mutated and underexpressed in human SCCs, and low ZNF750
32 nase-like kinases ATM (ataxia telangiectasia-mutated) and ATR (ATM and Rad3-related) and by the cycli
34 ous chromosome, however, are not recurrently mutated, and the identity of key 8p tumor-suppressor gen
36 tions identified in IO IBD patients with two mutated ANKZF1 alleles result in dysfunctional ANKZF1, a
40 EZH2 but not by TRIM28 expression or by EZH2 mutated at the region (pre-SET domain) of TRIM28 interac
41 legans models, expression of alpha-synuclein mutated at the site of interaction with dopamine prevent
44 ele signal through the ataxia telangiectasia mutated (ATM) kinase to feedback-inhibit RAG expression
47 ukemia (CLL) where the ataxia telangiectasia mutated (ATM)-p53 pathway is inactivated with relatively
50 ve selection of B cells carrying somatically mutated B-cell receptors by follicular helper T (TFH) ce
54 ally through analyzing the kinetic effect of mutating both interface and solvent exposed residues in
56 w physical differences between wild type and mutated BRCA1(5382insC) impact the cell's response to ox
57 abrogates sister chromatid cohesion in STAG2 mutated but not in wild-type cells leading to mitotic ca
58 in which the N-linked glycosylation site is mutated by single-amino-acid substitution are highly att
59 balance during embryonic development and, if mutated, can lead to the formation of Wilms' tumour, the
67 nctional consequences of the most frequently mutated CMGs (KMT2D, CREBBP, and EZH2) and point to a ro
68 Up-regulation of the tRNA cognate to the mutated codon counteracts the effects of the sSNP and re
70 host vulnerable to an attack by a virus with mutated corresponding protospacers, while an excessive v
71 Because of the aggressive nature of KRAS-mutated CRLM, more extensive anatomical hepatectomies ma
75 nally, we engineered base editors containing mutated cytidine deaminase domains that narrow the width
78 nctional characterization of the most highly mutated DNase I hypersensitive sites in breast cancer (u
80 tion, we identified associations between 737 mutated driver genes and site-specific methylation chang
81 rmationally less flexible, target gatekeeper mutated drug-resistant EGFR-L858R/T790M, and covalently
82 nal change that is most prominent around the mutated EF-hand IV, as well as throughout the C-domain.
83 ication of interaction partners that bind to mutated EGFR can help identify novel targets for drug di
84 ), heterogeneous expression of amplified and mutated epidermal growth factor receptor (EGFR) presents
85 y, one of the most frequently altered genes, mutated exclusively by inactivating mutation, was LYST (
86 ormed with a construct in which the uORF was mutated exhibited serrated leaves, compact rosettes, and
87 uced fibrosarcoma cells naturally expressing mutated extracellular signal-regulated kinase (ERK) anti
88 of a single sgRNA was efficient at inducing mutated fetuses, the lack of complete gene inactivation
91 anced whole-cell K(+) currents produced by a mutated form of Kv2.1 mimicking apoptosis in a mammalian
92 ormal levels by wild-type SOS2, but not by a mutated form of SOS2 lacking the T168 residue phosphoryl
101 However, the impact of non-significantly mutated genes (non-SMGs), which may also play important
102 orts had been made to identify significantly mutated genes (SMGs) in ECs and use them as biomarkers f
103 altered pathways, with associations between mutated genes and pathways, and stage or subtype of T-AL
104 d the identification of a set of recurrently mutated genes central to the pathogenesis of MDS, which
105 oadly measure mutated alleles of recurrently mutated genes in CR marrows of AML patients at levels as
109 1 (LKB1/STK11) is one of the most frequently mutated genes in non-small cell lung cancer (NSCLC) and
110 TP53 are two of the most commonly deleted or mutated genes in prostate cancer, the compound loss of w
111 4 T2 and 225 T8 genes, including four highly mutated genes that are functionally related to the targe
112 river genes and identifies new significantly mutated genes with highly plausible biological functions
115 profiles were observed for lesions with IDH-mutated genotypes, between astrocytoma and oligodendrogl
123 reased (P = .037) in low-grade glioma with a mutated IDH gene, and MTI was significantly increased in
124 ducible chemokines, including CXCL10, in IDH-mutated (IDH-MUT) tumors compared with IDH-WT tumors.
126 s (Activity-on-Target cytokines), optimized (mutated) immunocytokines that are up to 1,000-fold more
127 s including KMT2C/MLL3 and ARID1B, which are mutated in >50% of hepatocellular carcinomas, were also
128 The Janus kinase 3 (JAK3) tyrosine kinase is mutated in 10% to 16% of T-cell acute lymphoblastic leuk
130 e encoding the RUNX1 transcription factor is mutated in a subset of T-cell acute lymphoblastic leukem
131 and IDH2) are key metabolic enzymes that are mutated in a variety of cancers to confer a gain-of-func
135 eiotropic functions and has been found to be mutated in cancer cells, ciliopathies such as the polycy
137 es that target signalling molecules that are mutated in cancers can often have substantial short-term
139 r, contains six tandem BDs and is frequently mutated in clear cell renal cell carcinoma (ccRCC).
141 re threshold 2), a metazoan-specific protein mutated in epilepsy, recruits a fraction of mammalian GA
142 es (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR.
146 of a virus library targeting genes commonly mutated in human cancers into the brains of conditional-
149 Chromatin-modifying genes are frequently mutated in human lung adenocarcinoma, but the functional
150 rs of ciliogenesis and ciliary signaling are mutated in humans, resulting in a number of ciliopathies
151 genitors of the human embryonic brain and is mutated in individuals with autosomal recessive primary
155 t-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new
162 has been shown to drive leukemogenesis when mutated in patients with acute myeloid leukemia (AML).
163 ific residues on human profilin-1 (PFN1) are mutated in patients with amyotrophic lateral sclerosis (
164 ate of mutation than that observed for genes mutated in PIDs where revertants have not been identifie
168 g protein (CREBBP) and EP300 are recurrently mutated in the activated B cell-like and germinal center
171 inositol polyphosphate-5-phosphatase that is mutated in the developmental disorders Joubert and MORM
173 ed in congenital mirror movements when it is mutated in the heterozygous state but whose biallelic lo
179 ER stress signalling results in loss of Apc mutated intestinal epithelial stem cells by interference
180 nity defense mechanisms, often deleteriously mutating invading retroviruses or retrotransposons and,
182 f an alanine, A(186), within the CX3C motif, mutating it to CX4C ((182)CWAIAC(187)), known to block b
184 regulatory autophosphorylation, and that the mutated kinase acts in a dominant-negative manner to red
186 omimetic and phosphorylation-dead mutants by mutating known conserved regulatory serine (S) residues
187 y increases Spo11-oligonucleotide levels but mutating known Tel1 phosphotargets on Hop1 and Rec114 do
191 lving phylogenic relationships, we uncovered mutated LCP1 and WNK1 as novel CLL drivers, supported by
195 re, we sought to characterize the effects of mutating Lys-300 of NhaA to amino acid residues containi
196 ted rVSVs (wild-type and attenuated VSV with mutated matrix protein [VSVm] versions) that express eit
197 onstrated the proliferative kinetics of BRAF-mutated melanoma cells treated with the BRAF inhibitor P
200 d extrinsic components of resistance in BRAF-mutated melanoma; the model describes tumor-stroma dynam
201 termination codon and the degradation of the mutated messenger RNA by nonsense-mediated messenger RNA
206 ation of HSV-1-induced membrane fusion since mutating N58 to alanine (N58A) caused extensive virus-in
208 nt T cell reactivities were directed against mutated neoantigens or a cancer germline antigen, rather
209 ively, these findings validate GPC2 as a non-mutated neuroblastoma oncoprotein and candidate immunoth
214 exomes provide comprehensive information on mutated, overexpressed genes and aberrant splicing, whic
215 pletion of KDM3A was capable of reactivating mutated p53 to induce the expression of pro-apoptotic ge
217 pe normal pancreas cells, as well as in KRAS mutated pancreatic cancer cells and was essential for ER
220 marker, phosphorylated ataxia telangiectasia mutated (pATM), were quantified in circulating lymphocyt
221 e we present the crystal structures of these mutated peptides bound to mouse IA(g7) and human HLA-DQ8
222 n of neoantigens, which are tumour-specific, mutated peptides presented on the surface of cancer cell
225 The p190A/eIF3A interaction is unaffected by mutating phosphorylated p190A-Tyr(308), but disrupted by
227 omplementation of the disrupted locus with a mutated PIMMS2 allele reveals that amino acid residues c
228 ymmetry is the opposite between cancers with mutated polymerases delta and epsilon, consistent with t
230 in response to high VPD, whereas plants with mutated protein kinase OST1 showed stunted VPD-induced r
232 ased by 8-10 folds for wild-type but not INS-mutated pvLAAD, indicating that the INS-membrane interac
235 ound to have profoundly differing effects on mutated receptors compared with TBS-516 and TQS, a findi
236 se salt bridges activated binding unless the mutated residue also formed a salt bridge with GpIbalpha
238 can improve the stability of SAT2 viruses by mutating residues at the capsid interface through predic
242 L mutation, 3 developed MDS upon loss of the mutated SAMD9L allele following intracellular infections
245 Three of the TIL TCRs were specific for non-mutated self-antigens, two of which were present in sepa
249 shed by deletion of the CENPC-k motif and by mutating single conserved amino acids, but can be restor
258 he almost complete loss of expression of the mutated TBK1 allele is due to loss-of-function mutations
259 In viruses with the N-terminal Cys residues mutated, TF is much less efficiently localized to the pl
262 e significance of the latter correlation, we mutated the splice sites in an affected intron to consen
264 nerates highly negatively charged pectin and mutates the physiochemical properties of the plant cell
266 lycosylation sites in Env typically involved mutating the glycosylated asparagine residues to structu
268 istent with mimicking substrate interaction, mutating the putative substrate-binding site in a consti
269 oth congenital and age related cataract when mutated, the extended promoter region of EPHA2 was scree
270 Mutant lysenin still can form pores, but mutating these glutamic acids to glutamines rendered the
271 oultry from wild birds have the potential to mutate to highly pathogenic avian influenza (HPAI) virus
274 pared to wild-type Nav1.5, Nav1.5 with K1479 mutated to a nonacetylatable residue increases peak INa
275 m that arose when an ancestral threonine was mutated to alanine, greatly increasing resistance to DCV
282 with the proprotein convertase cleavage site mutated to mimic the structure of the TGF-beta1 proprote
284 nce will increase substantially if the virus mutates to increase human-to-human transmissibility.
285 ancer cell lines examined and upregulated by mutated TP53, a gene commonly altered in ovarian cancer.
286 iscriminate targeting of wild-type and point-mutated transcripts represents an important limitation.
295 established that the increased toxicity upon mutating UbS2 stems from disrupting the autoprotective r
296 r, we found that hippocampal expression of a mutated version of TRIP8b further impaired HCN-channel t
298 d HEK293T cells with pyrin and wild-type and mutated WDR1 Mutant protein formed aggregates that appea
299 when gamma subunit palmitoylation sites were mutated, whereas DHHCs 1, 2, and 14 still activated ENaC
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