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1 lly affect tissues depending on which ARS is mutated.
2 motif required for chlorophyll binding were mutated.
3 er (TNBC), a subtype in which p53 is usually mutated.
4 hyper-methylated tumors, 6 (10.7%) were IDH1 mutated.
5 rone to impact transcriptional regulation if mutated.
6 f regulatory activity, and by systematically mutating 245 HOT loci with a massively parallel mutagene
7 a mouse model by using CRISPR technology to mutate a single internal translation initiation site in
8 n alter transcription factor (TF) binding by mutating a TF binding motif, which in turn may affect th
9 ould be used for targeting HCCs that express mutated/activated beta-catenin variants that are current
10 ceptibility to CKD in rats with wild-type or mutated Add3 and in genetically modified rats with overe
23 asia mutated (ATM) and ataxia telangiectasia mutated and RAD3-related (ATR) at Ser101 and Ser241 to a
24 with Ku70/Ku80 and the ataxia telangiectasia mutated and RAD3-related (ATR) at the protein level, res
25 mismatch repair protein-encoding genes were mutated at lower frequency (6%, 18%) with significant co
26 t, complementation with NCgl2764 derivatives mutated at residues essential for methyltransferase acti
27 ugh phosphorylation by ataxia telangiectasia mutated (ATM) and ataxia telangiectasia mutated and RAD3
28 late autophagy through ataxia-telangiectasia mutated (ATM) and cell cycle checkpoint kinase 2 (CHK2),
29 ve recently shown that ataxia-telangiectasia-mutated (ATM) deficiency in CD4 T cells accelerates DNA
31 Phosphorylation of ataxia-telangiectasia mutated (ATM) is the initial step in the DNA damage resp
34 nuclear expression of Ataxia Telangiectasia Mutated (ATM) protein within melanocytes in anagen hair
35 rylated at Ser(384) by ataxia telangiectasia mutated (ATM) serine/threonine kinase, and this phosphor
36 reduced expression of ataxia-telangiectasia mutated (ATM), and exhibited multiple mitotic defects.
37 subclone SCAP-O(BCOR-mut) expressed only the mutated BCOR transcripts and remained in such condition
39 inding experiments, comparing original BEAT, mutated BEAT, and "knobs-into-holes" interfaces, suggest
40 July 18, 2018, 43 patients with BRAF(V600E)-mutated biliary tract cancer were enrolled to the study
44 ts provide reassurance to patients with BRCA-mutated breast cancer interested in future fertility.
47 ont) infection induced the conversion of the mutated C1 into a PK-resistant and infectious form perpe
50 xploration of the genomic landscape of LRRK2-mutated carcinomas yielded frequent TP53 deactivation an
53 s derived from formalin-fixed tumors, a POLE mutated cell line and standard DNA by WES and five diffe
54 ted to activate the proliferation of dormant mutated cells, thus generating actively growing lesions,
55 antigens (TAAs) comprise a large set of non-mutated cellular antigens recognized by T cells in human
57 o discuss the importance of eradicating NPM1-mutated clones to achieve AML cure and the impact of pre
58 ffects on the overall disease burden of JAK2-mutated clones(6,7), prompting us to investigate the mec
59 at amplification of ERK1/2 signaling in KRAS-mutated colorectal cancer cells affects the cytokine mil
60 identify amplified ERK1/2 signaling in KRAS-mutated colorectal cancer cells as a driver of tumor-str
61 er Genome Atlas Database indicates that KRAS mutated colorectal cancer patients with low intratumor f
62 ble interest in identifying genes that, when mutated, confer risk that is largely specific for autism
64 : 1.30, 1.89; Pheterogeneity <= 0.001), BRAF-mutated CRC (OR per 5 kg/m2: 1.56; 95% CI: 1.22, 1.99; P
65 o identify potential vulnerabilities in KRAS-mutated CRC, we characterize the impact of oncogenic KRA
66 was demonstrated with libraries of randomly mutated cytochrome P411 variants to identify improved ca
67 ppressor gene and one of the most frequently mutated/deleted genes in human prostate cancer (PCa).
68 like most tumor suppressors, they are rarely mutated/deleted, but rather are impaired by "inhibitor p
69 ntal and neurodegenerative pathology in PNKP-mutated disease, and the extent and nature of this reduc
70 t progress along a common pathway with BRCA1-mutated disease, representing a promising DNA-based biom
72 lthy donors, and full discrimination between mutated DNA from patients over wild-type DNA from health
73 eferentially stimulates ATPase activity, and mutating Dnmt5's ATP-binding pocket disproportionately r
76 Arabidopsis thaliana; AtLAZY1) was tested by mutating each region and measuring how well transgenic e
79 Ectopic overexpression of EDN1 in cells with mutated EGFR resulted in poor drug delivery and retarded
81 e database comprises 2 539 031 non-redundant mutated entries from 17 599 proteins, of which 2 377 103
83 hree percent of patients (32/51; 62.7%) were mutated for at least one of the genes tested and TP53 wa
85 e MIE promoters during HCMV reactivation, as mutating FOXO binding sites in alternative MIE promoters
88 repeat kinase 2 (LRRK2) is the most commonly mutated gene in familial Parkinson's disease(1) and is a
89 echanisms by which TP53, the most frequently mutated gene in human cancer, suppresses tumorigenesis r
99 ategy for complex diseases with a variety of mutated genes and heterogeneous phenotypic manifestation
100 t also other factors such as the function of mutated genes and residual activities of mutant alleles.
103 PIK3CA is one of the two most frequently mutated genes in breast cancers, occurring in 30-40% of
108 the transsulfuration pathway, as one of the mutated genes responsible for eye degeneration in multip
110 ong the overall 801 HCC, the most frequently mutated genes were telomerase reverse transcriptase (TER
118 sistance is present in individuals with NRF2-mutated HCC and if this resistance can be overcome by me
120 r skews in transcriptional priming of DNMT3A-mutated human clonal hematopoiesis bone marrow progenito
121 ng is possible in isocitrate dehydrogenase 1-mutated human glioma by using a super-resolution framewo
123 , we first inferred SigMaps for the ten most mutated human oncoproteins and then for the full reperto
125 -120)-a small-molecule targeted inhibitor of mutated IDH1-in patients with previously treated IDH1-mu
127 onoclonal antibodies recognizing IGLV3-21 or mutated IGLV3-21(R110) facilitates the recognition of B
129 al study showed TP53, NOTCH1 and DNMT3 to be mutated in 84.6%, 69.2% and 30.0% of sensitive cell line
131 tical regulator of ciliogenesis, and is also mutated in a hereditary neurodegenerative disorder, spin
135 higher mutational burden in genes frequently mutated in ATL than did high-risk, age-matched HTLV-1 ca
140 pend on dNTPs to replicate and is frequently mutated in cancers and Aicardi-Goutieres syndrome, a her
141 ne kinases (RTKs) are often overexpressed or mutated in cancers and drive tumor growth and metastasis
144 roximately 20 genes are recurrently found as mutated in CH, indicating they confer some advantage.
152 catalytic subunit of PI3K and is frequently mutated in human cancers, including ~30% of colorectal c
155 entral component of the Ras/MAPK cascade, is mutated in human tumors and developmental disorders.
158 ecent studies on TBL1XR1, a gene recurrently mutated in MCD/C5s and PENLs, suggest that aberrant memo
161 ner of TCF12, and stub1, a gene that is both mutated in other syndromic forms of IGD and maps to a TC
162 static recurrence that are not significantly mutated in primary cancers, implicate membrane progester
163 ts inhibitor of hTERT (MCPH1/BRIT1) protein, mutated in primary microcephaly, specifically interacts
164 -regulatory elements within the FOXA1 plexus mutated in primary prostate tumors as potential targets
165 t non-coding AR binding sites are frequently mutated in prostate cancer and can impact enhancer activ
166 alize 65 new candidate loci, including genes mutated in rare hematological syndromes (ADA, GP6, IL17R
168 OBP, KCNJ12, and KMT2C, which are frequently mutated in skin cancers, indicating their potential role
170 9 genes were significantly differentially mutated in the 3 TIME types with strongest differences f
171 EGFR, down-regulating FUS, or expressing FUS mutated in the EGFR-targeted phosphorylation sites.
172 ire action potentials - notably ion channels mutated in the epilepsies - yet data now support a surpr
173 y both strains, and nodules formed on plants mutated in the stearoyl-acyl carrier protein desaturase
175 ox Helicase 3 X-Linked (DDX3X) is frequently mutated in the Wingless (WNT) and Sonic hedghog (SHH) su
176 non-coding genomic elements are recurrently mutated in this cohort, we identify 93 genes harboring n
177 iciency of oncogenes that are preferentially mutated in tumor samples is increased in proliferative c
178 ne families some members are more frequently mutated in tumor samples than their family counterparts.
179 radation controlled by ataxia telangiectasia mutated-induced phosphorylation at Ser(384) constitutes
180 propose that Cnr is an unstable gene that is mutated insertionally at high frequency, most commonly d
182 489, 500, 501, and 505, have high chances to mutate into significantly more infectious COVID-19 strai
183 have spread outside East Asia without first mutating into derived B types, pointing to founder effec
186 a in mouse models of MLL1-rearranged or NPM1-mutated leukemia, including patient-derived xenograft mo
190 thesis genes are transcriptionally silent or mutated, meaning that cholesterol uptake from lipoprotei
191 d mathematical flux balance analyses in BRAF-mutated melanoma cells to discover that elevated antioxi
192 sites, followed by GC producing somatically mutated memory B cells (MBC) and long-lived plasma cells
193 One hundred six patients with BRAF(V600E)-mutated metastatic CRC previously treated with one or tw
196 , it was reflected in the relative impact of mutating msa as assessed in a murine osteomyelitis model
197 netrin-1 in the skin cells of a BRAF(V600E)-mutated murine model reduced cancer cell death and promo
198 ng chromosome 6q are common in patients with mutated MYD88 and include genes that modulate NFKB, BCL2
199 is a subgroup analysis of patients with IDH2-mutated myelodysplastic syndromes in the phase 1 dose-es
201 risingly, we also report that simultaneously mutating N65 and N82 causes early termination of alpha(1
204 ression in acute myeloid leukemia (AML) with mutated NPM1 provides a rationale for the evaluation of
206 t+Flt3+ cell frequency in blood and its BRAF-mutated offspring reported response to chemotherapy.
207 se the voltage dependence of HCN channels by mutating only two residues located at the interface betw
211 Korea) with germline BRCA1-mutated or BRCA2-mutated or both and histologically confirmed, progressiv
212 or older in South Korea) with germline BRCA1-mutated or BRCA2-mutated or both and histologically conf
213 o identify genes and pathways preferentially mutated or copy-number altered in metastases compared wi
214 ke chromatin remodeller family member and is mutated or misregulated in several cancers and some case
218 g Administration, olaparib for germline BRCA-mutated pancreatic ductal adenocarcinoma is expected to
222 )' database is a compilation of Homo sapiens mutated peptides in FASTA format, that was constructed f
224 d breaks by activating Ataxia Telangiectasia Mutated, phosphorylating histone H2AX, and localizing RA
226 d in TMEM30A-knockout cell lines and TMEM30A-mutated primary cells, explaining the improved treatment
229 e lysine cluster blocks PIP(2) binding, this mutated protein domain retains the ability to bind physi
230 n of the genome", p53 is the most frequently mutated protein in cancer and almost all cancers exhibit
231 surface markers are usually overexpressed or mutated protein receptors for which spatiotemporal regul
232 nteracts with several developmental disorder-mutated proteins including WDR5, a core component of H3K
233 ype could be explained by the ability of the mutated proteins to physically interact with and sequest
237 ins, induces responses in patients with IDH2-mutated, relapsed or refractory acute myeloid leukaemia.
238 mical and crystallographic data show how the mutated residues modulate the binding and activation of
242 on constant (K(D) ) of ~700 pm Analyses with mutated RNA constructs, and the application of in vitro
254 an effect that was inhibited by blocking or mutating the adhesin RadD on Fusobacterium and removal o
261 n these amino acid residues are individually mutated, the necrosis-inducing activity is completely ab
262 ) are sites at which B cells proliferate and mutate their antibody-encoding genes in the dark zone (D
263 sed on previous X-ray crystal structures, we mutated three conserved residues in the Nef dimer interf
264 hogenic avian influenza viruses (LPAIVs) can mutate to highly pathogenic forms and are therefore subj
267 rylation sites on serines 63, 68, and 69 are mutated to alanines), in which phospholemman is rendered
268 sing Msh3 in which these lysine residues are mutated to arginine, the inhibitory effect of RGFP966 on
269 e multiple reactive cysteines, which must be mutated to other residues to enable labeling of unique p
270 m calponin homology domains (CH1-CH2) can be mutated to preferentially bind actin networks at the fro
273 median follow-up of 28 months, del(17p) and mutated TP53 were the only abnormalities with an effect
274 fts of a drug-resistant NB line SK-N-BE(2)C (mutated TP53); (iii) flank xenografts of a drug-resistan
275 s lower in patients with del(17p), del(11q), mutated TP53, ATM, and BIRC3, none of these parameters r
276 fied del(17p), del(11q), unmutated IGHV, and mutated TP53, BIRC3, and SF3B1 as independent prognostic
277 ssion and maintenance of AML, a bias towards mutated transcripts could have a significant impact on d
278 was highly degenerate and appeared to have a mutated transposase and terminal sequences, while a seco
287 ation of Smo by an E1 ligase inhibitor or by mutating two lysine residues in intracellular loop three
288 effect of DAGK inhibition was eliminated by mutating two PKC-targeted phosphorylation sites, Ser-502
289 were aged 18 years or older, had BRAF(V600E)-mutated, unresectable, metastatic, locally advanced, or
291 37 cell lines stably expressing WT SAMHD1 or mutated variants defective in dNTPase activity (HD/RN) o
292 alent inhibitors against the most frequently mutated version of RAS in non-small-cell lung cancer, KR
293 truction of B7H3 CAR T cells incorporating a mutated version of the HSV1-tk gene (sr39tk) with improv
296 Chromatin remodeling genes were frequently mutated, whereas mutations were absent in several major
298 All spontaneously regressed tumors were IGHV-mutated with no restricted IGHV usage or B-cell receptor
300 otypic features of tumor cells from 35 MYD88-mutated WM patients in relation to normal plasma and B-c