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1 -ubiquitination of Cdc20, and are checkpoint defective.
2 crophage ability to produce nitric oxide was defective.
3 the most defective and G221A being the least defective.
4 omain, which is mediated by the partitioning-defective 1 (Par1) kinases, regulates a conformational s
8 ), that were previously shown to be function defective and corrected by ivacaftor (VX-770; Kalydeco),
9 sruption of both TpnC genes resulted in jump-defective and flightless phenotypes of the survivors, as
13 ryotic transcriptomes by degrading unneeded, defective, and potentially harmful noncoding RNAs (ncRNA
18 of endogenous DNA damage is concomitant with defective ATM-mediated DNA repair signaling and accumula
21 Plekhg5-depleted cultured motoneurons show defective axon growth and impaired autophagy of synaptic
23 gnated dek38-Dsg, is embryonic lethal, has a defective basal endosperm transfer (BETL) layer, and res
24 rization that, in contrast to common wisdom, defective BaTiO3 with a large concentration of vacancies
25 emphasis onto disordered states, including 'defective by design' crystals, as well as amorphous phas
26 ostability, diminished exonuclease activity, defective catalytic activity, and compromised DNA proces
27 3 nonsynonymous ITGAM variants that produce defective CD11b associate with elevated levels of type I
28 ation stress, impaired checkpoint signaling, defective cell cycle control, and genomic instability, w
30 cretion of nonbulky proteins, ER stress, and defective cell morphology are secondary consequences of
32 developmental pathways or completely remove defective cells from a population is a widespread strate
36 Failure to complete genome replication and defective checkpoint surveillance enables BRCA2-deficien
37 Moreover, USP7 inhibition sensitized p53-defective, chemotherapy-resistant CLL cells to clinicall
41 e have normal cilia distribution but display defective cilia structure, including abnormal positionin
44 thors generate mouse models of Tp53- and Atm-defective CLL mimicking the high-risk form of human dise
47 A) directly repressed the MIR34A gene in p53-defective CRC cells, whereas expression of MIR34A was in
48 show impaired cross-presentation ex vivo and defective cross-priming of CD8(+) T cell responses in vi
50 with abundant glucose, whereas the catalysis-defective D34S aldolase mutant, which still binds FBP, b
54 n of barrier disruption, mediated in part by defective desmosomes and dysregulated transforming growt
55 Cs in CD11c-Cre.Tgfbr1 (fl/fl) mice reflects defective differentiation from CD103(-)CD11b(+) intermed
56 peripheral blood indices, and corrected the defective differentiation potential of progenitors in th
57 acid oxidation alone was sufficient to cause defective differentiation, while administration of fatty
61 lity in cells from patients, consistent with defective DNA replication underlying the disease phenoty
63 l macrophages, but the mechanisms underlying defective efferocytosis and its possible links to impair
64 cular-cellular mechanism that contributes to defective efferocytosis, plaque necrosis, and impaired r
69 T cells, a property that was associated with defective expression of the T-cell Ig mucin (TIM)-4 rece
70 eat domains 3 (SHANK3B) scaffolding protein, defective expression of which has been implicated in ASD
71 abolic cutis laxa syndromes and further link defective extracellular matrix assembly to faulty protei
73 ction, and advances our understanding of how defective FA signaling contributes to aging and cancer a
75 nity of the disordering transition towards a defective fluorite structure translates into a tunable d
76 of the antioxidant N-acetylcysteine rescued defective follicle and oocyte development resulting from
79 we show that while the Ub-CR conformation is defective for conjugation, it demonstrates improved bind
81 of MTBP without a functional CTM domain are defective for DNA replication in Xenopus egg extracts.
85 et the recombinant virus remained completely defective for productive replication, providing a high d
89 ) compared to that of HIV-1 Vif, and BIV Vif defective for the Pr55(Gag) interaction lost its ability
91 ve been isolated from RTT patients display a defective formation of autophagosomes under conditions o
93 d cells display impaired cell proliferation, defective G2/M arrest and increased radiochemosensitivit
94 a hydrolase domain-containing 5 (ABHD5), the defective gene in human Chanarin-Dorfman syndrome, is a
99 (-/-) and Trp53 (-/-);Brca2 (-/-) cells have defective homologous recombination and increased sensiti
101 leukocytes from 3 of the patients displayed defective IFN production upon VZV infection and reduced
102 y, or between patients encoding functionally defective IFN-lambda4 (IFN-lambda4-Ser70) and those enco
104 active oxygen species, closely mimicking the defective immune functions observed in beta-thalassemia
106 g5, Atg7, or Atg16L1) but not in macrophages defective in a related, canonical autophagy pathway (Atg
107 t reported in four independent SCZ cases was defective in activating PAK3 as well as MAPK (mitogen-ac
108 and cells carrying this lethal mutation are defective in actomyosin ring assembly at the non-permiss
110 h, we identified two Lotus japonicus mutants defective in AM-specific paralogs of lipid biosynthesis
112 hy, which harbour a mutation in RNF113A, are defective in ASCC foci formation and are hypersensitive
113 ng of how inflammation resolution may become defective in atherosclerosis and the potential for prore
115 8G, defective in ubiquitin binding, was also defective in autophagosome formation and recruitment to
116 ing or organelle acidification but not those defective in autophagy displayed augmented APOL1 toxicit
117 igands modulated signaling of a GPR56 mutant defective in autoproteolysis and hence, in Stachel pepti
120 /Delta mutant, which is known to be severely defective in biofilm formation when grown as single spec
121 ency are restored in double mutants that are defective in both EPS production and the Frz chemosensor
123 ypical hemolytic uremic syndrome (aHUS), was defective in C3bBb decay-accelerating activity (DAA) and
124 Supporting these results, E-Syt1 constructs defective in Ca(2+) binding in either C2A or C2C failed
127 We found that the luxO and aphA mutants were defective in colonization compared to levels in the wild
130 ol-3-phosphate acyltransferase6 (gpat6), and defective in cuticular ridges (dcr) were grouped in thre
131 Macrophage intracellular pathogen killing is defective in cystic fibrosis (CF), despite abundant prod
134 further found that the DeltaMoglo3 mutant is defective in endocytosis, scavenging of the reactive oxy
138 CD4(+) T-cells from PKC-(-/-) mice were also defective in G-BMDC induced Treg proliferation ex vivo,
142 s into peptide displayed by MHC I is however defective in hepatocytes lacking collectrin, an intracel
143 in the Saccharomyces cerevisiae pho2 mutant defective in high-affinity Pi transport rescues growth i
146 Moreover, functional study using a mutant defective in light-independent chlorophyll synthesis rev
149 lial PD-associated variants are structurally defective in membrane binding and alter the local bindin
153 ization of WDR62 and mitotic progression are defective in patient-derived fibroblasts, which, similar
154 airment (MCI) and Alzheimer disease (AD) are defective in phagocytosis and degradation amyloid beta1-
157 onsequently, TIPE2-deficient leukocytes were defective in polarization and chemotaxis, and TIPE2-defi
158 d association between the MCC and APC/C, are defective in poly-ubiquitination of Cdc20, and are check
161 that stimulates initial DNA unwinding but is defective in replication elongation and CMG binding.
163 associated herpesvirus (KSHV) mutant that is defective in small capsid protein and is unable to produ
165 ants lacking lysosome-related organelles are defective in the production of all 4'-modified ascarosid
166 press HopAI, PMIR1 -HopAI transformants were defective in the spreading of invasive hyphae and elicit
167 umber of intestinal cells, even in nematodes defective in their antiviral RNA interference (RNAi) res
168 cells type c-1 and cathepsin K expression is defective in these macrophages because of reduced Erk/c-
169 ulate carbon reserves during the day, and is defective in transcription of genes crucial for utilizat
170 a phospho-mimetic stathmin mutant (4E) made defective in tubulin binding returned cell migration and
171 A disease-associated Optn mutant, E478G, defective in ubiquitin binding, was also defective in au
174 erial effects, gives new significance to the defective induction of hBD2 in the barrier-defective ski
176 glucose sensing are likely to contribute to defective insulin secretion in human carriers of PAX6 mu
177 beta cell mass, impaired glucose tolerance, defective insulin secretion, and increased apoptosis whe
180 c tracer, or naturally occurring VSV-derived defective interfering particles (DIPs), into the caudate
182 ormal bone development that is mainly due to defective intramembranous bone formation by osteoblasts.
184 osition may be influenced by coexpression of defective L1 loci and that these L1 loci may reduce accu
185 QP3-depleted colonic epithelial cells showed defective lamellipodia, focal adhesions, and repair afte
186 vivo to restore function of a polymerization-defective laminin, leading to normalized muscle structur
187 ied a hitherto unreported disease mechanism (defective linear ubiquitination) in patients with IP.
189 driver of the transformation of genetically defective liver stem cells (LSCs) into highly metastatic
192 morphogenesis, improper lymphatic drainage, defective lymphatic valve maturation, and complete letha
193 ed to blood-filled lymphatic vessels, edema, defective lymphovenous valve morphogenesis, improper lym
196 flecting vesicular transport obstruction and defective lysosomal turnover resulting from NPC1 deficie
200 eostasis of the brain and, furthermore, that defective MCI macrophages recover phagocytic function vi
201 ence for a unifying pathogenesis in CNMs via defective membrane trafficking and excitation-contractio
202 oss, or somatic mutations is associated with defective MHC class I expression, impaired cytotoxic T c
203 these results suggest decreased SMN leads to defective microRNA function via MEL-46 misregulation, fo
206 nuclear DNA from an egg or zygote containing defective mitochondria to a corresponding egg or zygote
208 ion-deficient beta-cells, demonstrating that defective mitochondrial dynamics solely affect substrate
209 nstressed cells but strongly accumulate upon defective mitochondrial import and impaired proteostasis
211 ate that T2DM aggravates HF after MI through defective mitophagy, associated exaggerated inflammasome
215 n-rescue experiments show that a respiration-defective mutant of SOD1 is also impaired in its ability
216 s of full-length PTEN but a membrane-binding defective mutant of the C2 domain abrogated these proper
218 of the viral glycoprotein, but not a fusion defective mutant, is sufficient to cause CO2 sensitivity
220 es, as cyclin-dependent kinase (CDK) binding-defective mutants are capable of stimulating treslin pho
223 agocytic uptake in the lysosomal degradation-defective mutants via a pathway requiring cytosolic patt
225 containing a synapsis-proficient, DSB repair-defective mutation in a gene (Trip13) required for remov
226 ophilic leukemia (e.g., T618I), functionally defective mutations in the extracellular domain of the G
228 for previous observations that dimerization-defective Nef mutants fail to down-regulate CD4 and vali
230 leading to infection has been confounded by defective, noninfectious particles and the stochastic mi
231 embryonic fibroblasts that recapitulate the defective nuclear organization of laminopathies, featuri
235 py, neurons infected with VZV produced fewer defective or incomplete viral particles than MRC-5 cells
236 s a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results i
239 in the NANCI-Nkx2.1 gene duplex results in a defective perinatal innate immune response, tissue damag
240 xpression of ZxAKT1 rescued the K(+) -uptake-defective phenotype of yeast strain CY162, suppressed th
242 ant sheep, experimental models with a small, defective placenta that restricts delivery of nutrients
245 an diseases called ciliopathies is caused by defective primary cilia morphology or signal transductio
250 e esk1-mediated responses counterbalance the defective PTI and PcBMM susceptibility of agb1-2 plants,
257 lock RPS10 or RPS20 ubiquitylation result in defective resolution of stalled ribosomes and subsequent
260 phied thymus by utilizing both postnatal TEC-defective (resulting from FoxN1-floxed conditional knock
261 nced when presentation was restricted to the defective ribosomal product (DRiP) form of the protein.
262 de generation reveals that ubiquitylation of defective ribosomal products is rate limiting in generat
263 es (LCLs) established from DBA patients show defective rRNA processing and ribosomal stress features
264 g zones; however these osteoclasts exhibited defective ruffled borders and were unable to resorb bone
267 diated expression of SIRT3 or an acetylation-defective SIRT3-K57R mutant in diet-induced obese mice d
270 e defective induction of hBD2 in the barrier-defective skin lesions of AD and indicates therapeutic p
272 th significantly fewer gonocytes and exhibit defective spermatogenesis and reduced sperm count as you
276 in each patient with HFpEF, identifying the defective steps that impair each one's exercise capacity
277 d the entire pxr gene from a developmentally defective strain that fails to remove Pxr-mediated block
279 vaginal challenge of C57BL/6 mice with hypha-defective strains attained high levels of mucosal coloni
280 a fusion protein containing a catalytically defective Streptococcus pyogenes Cas9, a cytidine deamin
281 pathogenic Htt on synaptic growth arise from defective synaptic endosomal trafficking, leading to exp
282 s that corrected the effect of a translation-defective synonymous flgM allele were restricted to two
285 s essential for proper head development, and defective TMEM107 function leads to ciliary morphology d
286 of POR as well as CHLP, which is not due to defective transcription of the POR and CHLP genes but to
287 lial localization and replication as well as defective transepithelial translocation by Salmonella In
288 trol mechanisms intervene appropriately when defective translation events occur, in order to preserve
289 Additionally, we confirm that TRE-binding-defective TRbeta leads to disruption of the hypothalamic
290 La cKO) from mouse cortex neurons results in defective tRNA processing, although the pathway(s) invol
292 ions identified thus far in association with defective ubiquitination are discussed in more detail.
293 tes a broad array of cellular processes, and defective ubiquitination is implicated in several neurol
294 se in ACSS2 in the hippocampus also leads to defective upregulation of memory-related neuronal genes
295 ompletely dominant disorder characterized by defective urinary cystine reabsorption that results in t
300 -specific WNK1 (KS-WNK1), a truncated kinase-defective WNK1 isoform that is highly expressed in the D
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