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1 tus cells and rapidly reverted catalytically inactivating mutations.
2 ity of human lung cancer cells bearing KMT2D-inactivating mutations.
3 ng axis in colon cancer cells harboring MLK4-inactivating mutations.
4 educed plasma triglyceride levels) and other inactivating mutations.
5 ne-third of its protein-coding genes contain inactivating mutations.
6 n lead to the emergence and expansion of p53-inactivating mutations.
7 a and found spontaneous development of Trp53 inactivating mutations.
8 crocephaly comparable to that of humans with inactivating mutations.
9 re retrotranspositionally-incompetent due to inactivating mutations.
10 r frequencies in this unbiased comparison of inactivating mutations.
11 ps were similarly altered despite the fusion-inactivating mutations.
12 emic livers were generated by aneuploidy and inactivating mutations.
13 ysis used to identify additional potentially inactivating mutations.
14 to treat the NSCLCs harbouring SMARCA4/BRG1-inactivating mutations.
15 ut obvious oncogenic function including BRAF-inactivating mutations.
16 f dC to dU, leading to accumulation of virus-inactivating mutations.
17 r VHL suppression in tumors that do not have inactivating mutations.
18 families) were documented to share biallelic inactivating mutations affecting the NKX6-2 homeobox dom
20 ls was associated with both reversion of the inactivating mutation and a variant with a compensating
21 d the association between the presence of an inactivating mutation and both plasma lipid levels and t
22 ion of human adrenal cells bearing a PRKAR1A-inactivating mutation and Prkar1a(+/-) mouse embryonic f
23 reports from Score et al and Kroeze et al of inactivating mutations and chromosome loss in SUZ12, EED
25 this study, we report the identification of inactivating mutations and deletions in the X-linked pla
29 itive behaviors observed in humans with Pten inactivating mutations and potentially other autism spec
31 49 (24%) fludarabine-refractory CLL cases by inactivating mutations and/or gene deletions that distri
32 sequencing, we identified 15 distinct NPC1L1 inactivating mutations; approximately 1 in every 650 per
34 is also a tumor suppressor, and homozygous, inactivating mutations are found in a wide range of huma
36 adenocarcinoma in vivo, indicating that BRAF-inactivating mutations are initiating events in lung onc
40 e-nucleotide polymorphisms and four proposed inactivating mutations associated to Fanconi-Bickel synd
41 iers of inherited heterozygous germline BAP1-inactivating mutations (BAP1(+/-)) developed one and oft
47 patients with coronary heart disease had an inactivating mutation (carrier frequency, 0.04%) in cont
50 nteractions with a coactivator, MED12, or by inactivating mutations directly in GATA4 coactivators, i
52 PAPPA syndrome is caused by homozygous TBX4 inactivating mutations during embryogenesis in humans.
54 by alternative splicing, are the targets of inactivating mutation events in breast, liver, and head
57 st-ovarian cancer families compared with one inactivating mutation identified in 1,060 controls (P =
58 nary basis for the genetic stability of ExoN-inactivating mutations, illuminate complex functional an
59 ing positional cloning we have identified an inactivating mutation in alk6b, a type IB bone morphogen
60 all tested P. falciparum isolates contain an inactivating mutation in an erythrocyte invasion associa
61 s low, and plasma from an individual with an inactivating mutation in BCHE still effectively hydrolyz
62 The patient's mother was heterozygous for an inactivating mutation in CD45 but the paternal alleles e
64 is of the grechetto mutant, which harbors an inactivating mutation in cleavage and polyadenylation sp
69 a Mycobacterium smegmatis strain carrying an inactivating mutation in LigD POL failed to reveal a rol
73 ome (LDS) that carries a heterozygous kinase-inactivating mutation in TGF-beta receptor I, we found t
74 nable to produce endogenous Neu5Gc due to an inactivating mutation in the CMP-Neu5Ac hydroxylase (CMA
75 genes (GAS) strain, AP53, contains a natural inactivating mutation in the covS gene (covS(M)) of the
78 In this study, we show that mice with an inactivating mutation in the intramembrane protease sign
79 oprotein, BRAF(V600E), into mice carrying an inactivating mutation in the Mc1r gene (these mice have
80 ial characterization of mice with a targeted inactivating mutation in the p110delta subunit of phosph
81 ort that a pili-deficient mutant carrying an inactivating mutation in the pilus assembly motor PilB h
84 istance was also lost, but by a compensatory inactivating mutation in the transcriptional regulator o
87 rtery disease and the E40K variant and other inactivating mutations in 10,552 participants with coron
88 y was supported by the identification of T6S-inactivating mutations in a genome-wide screen for resis
90 three TET genes, TET2 recurrently undergoes inactivating mutations in a wide range of myeloid and ly
91 after the acquisition of two independent EDP-inactivating mutations in all classical zoonotic species
95 man recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes
102 s increased in isogenic cell lines harboring inactivating mutations in diverse elements of the IFN si
104 e ARD1 protein (KO-WT), or ARD1 protein with inactivating mutations in E3 ligase domain (KO-E3), or c
107 MRAP-MRAP-MC2-receptor fusion proteins with inactivating mutations in either MRAP or the receptor wa
108 ant tumor-suppressor gene syndrome caused by inactivating mutations in either TSC1 or TSC2, and the T
109 esults from the generation of various kinase-inactivating mutations in either yeast or human cells ar
111 hoproliferative syndrome (ALPS) is caused by inactivating mutations in FAS or FASL, with autoantibodi
112 egulated cyclin D1 drives tumorigenesis, and inactivating mutations in Fbx4 have been identified in h
113 me human diffuse large B-cell lymphomas have inactivating mutations in FBXO10 or express FBXO10 at lo
119 rs has been the unexpected discovery of many inactivating mutations in genes that control the epigeno
120 n be assigned to molecular subtypes based on inactivating mutations in hepatocyte nuclear factor 1A,
121 n be assigned to molecular subtypes based on inactivating mutations in hepatocyte nuclear factor 1A,
125 roximal promoter region of ERalpha gene, and inactivating mutations in its HAT domain abolished its a
127 a connective tissue disease associated with inactivating mutations in lysyl hydroxylase 2 (LH2/PLOD2
129 g ketolytic defects yielded seven additional inactivating mutations in MCT1, both homozygous and hete
130 in remodeling: 44% of the tumors had somatic inactivating mutations in MEN1, which encodes menin, a c
132 o single activating mutations and double-hit inactivating mutations in mTOR pathway genes, severe for
133 cholangiocarcinomas, we discovered frequent inactivating mutations in multiple chromatin-remodeling
136 We report on the identification of biallelic inactivating mutations in NKX6-2, a gene encoding a tran
138 microtubule-severing activity resulting from inactivating mutations in one SPAST allele is the most p
141 lycystic kidney disease (ADPKD) is caused by inactivating mutations in PKD1 (85%) or PKD2 (15%).
144 as to why both enzymatically activating and inactivating mutations in PTPN11 result in human develop
146 adism, ataxia, and dementia can be caused by inactivating mutations in RNF216 or by the combination o
148 electively in sensory and autonomic neurons; inactivating mutations in SCN9A, which encodes Nav1.7, r
152 Recently, we described that homozygosity for inactivating mutations in SMIM1 defines the rare Vel-neg
156 EMP3), as a candidate gene, then demonstrate inactivating mutations in ten known MAM-negative individ
164 apreomycin sensitivity and identification of inactivating mutations in the corresponding Mtb gene tly
165 -onset, progressive dementia associated with inactivating mutations in the CSF-1R highlights the impo
166 lity to renal cell carcinoma (RCC) caused by inactivating mutations in the folliculin (FLCN) gene.
171 form of congenital diarrhea that arises from inactivating mutations in the gene encoding myosin Vb (M
172 insulinism of infancy (CHI) can be caused by inactivating mutations in the gene encoding short-chain
177 E322K substitutions in the MAPK1 gene (8%), inactivating mutations in the HLA-B gene (9%), and mutat
178 omes of 7,651 diverse human cancers and find inactivating mutations in the homeodomain transcription
180 Analysis of tumor exomes with biallelic inactivating mutations in the investigated genes confirm
181 nts with congenital hyperinsulinism owing to inactivating mutations in the K(ATP) channel (K(ATP)HI)
183 villus inclusion disease (MVID) is caused by inactivating mutations in the myosin VB gene (MYO5B).
184 ibroblast growth factor (FGF) receptor 3 and inactivating mutations in the NPR2 guanylyl cyclase both
185 r this aberrant serology was the presence of inactivating mutations in the O-acetyltransferase gene w
188 all cases of LS are caused by catalytically inactivating mutations in the protein tyrosine phosphata
195 Close to half of all solid tumors carry inactivating mutations in the TP53 gene, while in the re
197 ructive neoplasm of the lung associated with inactivating mutations in the TSC1 or TSC2 tumor suppres
200 abnormalities exhibited by patients bearing inactivating mutations in the Wiskott-Aldrich syndrome p
201 physiology is strengthened by the rarity of inactivating mutations in their genes and by the devasta
202 subfunctionalized by acquiring complementary inactivating mutations in these interaction domains.
207 apamycin inhibitor rapamycin, and cells with inactivating mutations in TP53 were sensitive to the Aur
211 Lymphangioleiomyomatosis (LAM) are caused by inactivating mutations in TSC1 or TSC2, leading to mTORC
212 fatal cystic lung disease due to bi-allelic inactivating mutations in tuberous sclerosis complex (TS
213 disease associated with germline or somatic inactivating mutations in tuberous sclerosis complex gen
215 Tumor suppressors are mostly defined by inactivating mutations in tumors, yet little is known ab
219 xyeth yl)-4-methoxybenzenesulphonamide)] and inactivating mutations (K42M, A302R, and T305/T306D) imp
221 toxicity caused by ART and individuals with inactivating mutations may be predisposed to these effec
223 of bladder tumours and cell lines, we found inactivating mutations (nonsense, frameshift and splicin
226 ss this, we have used male mice harboring an inactivating mutation of mitogen- and stress-activated p
227 y IL-18, but not IL-1beta, resulting from an inactivating mutation of the actin-depolymerizing cofact
229 H/HeN and C3H/HeJ mice, which have a natural inactivating mutation of TLR4, revealed that Ang4 expres
230 several gastrointestinal malignancies due to inactivating mutations of adenomatous polyposis coli (in
232 al affected individuals, we discovered novel inactivating mutations of ARID2 in four major subtypes o
233 plasia appear to be genetic, most often with inactivating mutations of ARMC5, a putative tumor-suppre
236 ns lacking caveolae due to gene knock-out or inactivating mutations of cavin-1/PTRF have numerous pat
238 lates cell size and growth, is observed with inactivating mutations of either of the tuberous scleros
239 of ISG15 described in mice, humans born with inactivating mutations of ISG15 do not present with any
240 metastases and as neither gene deletions nor inactivating mutations of PPM1A have been described, inc
245 umor types were found to harbor deletions or inactivating mutations of STAG2, a gene encoding a subun
247 ulin secretion most commonly associated with inactivating mutations of the beta-cell ATP-sensitive K(
251 ied mutations in EZH2, ARID1A, and recurrent inactivating mutations of the cell cycle inhibitor CDKN1
252 Here we report hemizygous or homozygous inactivating mutations of the chromosome 14q MAX gene in
257 migratory erythema), while in subjects with inactivating mutations of the glucagon receptor, pancrea
259 candidate cancer-associated genes, including inactivating mutations of the metalloproteinase ADAMTS12
261 ocortical disease (PPNAD) is associated with inactivating mutations of the PRKAR1A tumor suppressor g
263 Combined germline and somatic second hit inactivating mutations of the RASA1 gene, which encodes
264 el (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, which encodes
265 ough one copy of CHD5 is deleted frequently, inactivating mutations of the remaining allele are rare.
266 come from the study of humans and mice with inactivating mutations of the sclerostin gene that both
269 child with severe BMF who harbored biallelic inactivating mutations of the translesion DNA synthesis
275 tiparallel MRAP molecules and then introduce inactivating mutations on one side of the membrane or th
276 wherein two variant Envs harboring different inactivating mutations (one in gp120, the other in gp41)
277 hosphatidylinositol [GPI] biosynthesis) have inactivating mutations, one in the germ line and one som
278 wnstream validation study confirmed frequent inactivating mutations or protein deficiency of ARID1A,
279 of vacuoles with diagnostic distributions of inactivating mutations over the two fusion partners conf
283 ugh half of cutaneous human SCCs display p53-inactivating mutations, restoring p53/TACE activity in m
284 ry showed that in the majority of cases with inactivating mutations, STAG2 protein expression was abs
285 gene in HRS cells, with 7 of 10 cases having inactivating mutations that lead to loss of major histoc
286 at overexpress cyclin D1, Fbx4 is subject to inactivating mutations that specifically disrupt dimeriz
287 and negative areas from one tumour showed an inactivating mutation to be present only in the negative
291 uently altered genes, mutated exclusively by inactivating mutation, was LYST (10%), which may represe
294 h RNA sequence downstream of the PTC and the inactivating mutation within the active site of UPF1.
295 nt multiple distinct and spatially separated inactivating mutations within a single tumor, suggesting
297 solates were discovered to contain identical inactivating mutations within genes encoding two regulat
298 all extant bird orders and recovered shared, inactivating mutations within genes expressed in both th
300 isolates uniformly cannot use indole due to inactivating mutations within tryptophan synthase, indic