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1 ure termination, tandem repeat, nonstop, and missense mutations).
2 ly a gain of function caused by the dominant missense mutation.
3 120 of human p53 has been characterized as a missense mutation.
4 ARE harboring a retinal dystrophy-associated missense mutation.
5 ygous c.206A-->T transition, causing an E69V missense mutation.
6 or the pathogenicity of the newly identified missense mutation.
7 leukemia cell lines of the most common TP53 missense mutations.
8 th null alleles frequently found in trans to missense mutations.
9 leukemia showed no evidence of GOF for TP53 missense mutations.
10 s H3K36me2 that is abrogated by TBRS-derived missense mutations.
11 recurrent mutation, and eight non-recurrent missense mutations.
12 is the interrogation of naturally occurring missense mutations.
13 rs (NDDs) and highlight 35 genes with excess missense mutations.
14 cers, and the majority of TP53 mutations are missense mutations.
15 ive of the tumor types evaluated having DLC1 missense mutations.
16 mutations are more impaired than those with missense mutations.
19 d that mice expressing a DS-associated Scn1a missense mutation (A1783V) conditionally in inhibitory n
23 Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a
29 d A11 proteins as examples to illustrate how missense mutations and aberrant post-translational modif
30 isruptive CNVs and SNVs, resulting in severe missense mutations and mapping to predicted fetal brain
31 length of the acidic stretch, including the missense mutations and posttranslationally modified site
32 t reflects a gene's tolerance to deleterious missense mutations and serves as a useful tool to study
33 des a constrained spatial orientation of the missense mutations and the posttranslationally modified
34 is for malfunction of disease-associated XPA missense mutations, and contribute to understanding of t
38 haping its mutational spectrum, dominated by missense mutations, are enigmatic, and neomorphic gain-o
39 0% of the patient population with identified missense mutations, are located in the interface between
40 an familial hemiplegic migraine type 1 R192Q missense mutation as well as in wild-type mice and rats.
41 lopment of therapeutic strategies that treat missense mutations associated with genetic disorders by
42 gion is intensified by the presence of human missense mutations associated with low and high LDL-c le
43 ic gliomas and bone tumors reportedly harbor missense mutations at glycine 34 in genes encoding histo
45 ost cancer-associated alterations to ATM are missense mutations at the PI3-kinase regulatory domain (
46 f this mutant (ERalpha-Q375H) and four other missense mutations at this position designed to query al
47 we analyzed survival effects of tumor exonic missense mutation burden (TEMMB) across 6947 specimens s
48 on of the PA phenotype with the heterozygous missense mutation c.4136G>T (p.Arg1379Leu) in cadherin-r
49 ifestations, knock-in mice with human HD-AIP missense mutations c.500G>A (p.Arg167Glu) or c.518_519GC
50 syndrome (86%) are caused by a heterozygous missense mutation (c.148G>A, p.D50N) in the GJB2 gene, e
52 etric erythrokeratodermia, we identified two missense mutations (c.3099C>G and c.3119T>C) that produc
53 01C>T/p.(Arg601*), c.2350A>T/p.(Arg784*)], a missense mutation [c.1265G>T/p.(Gly422Val)], and a 62,13
54 dentified a rare TP53 tetramerization domain missense mutation, c.1000G>C;p.G334R, in a family with m
58 iable depending on the interplay between the missense mutation caused by the read-through and the str
59 d-type and mutant SLC13A3 indicated that the missense mutations caused a marked reduction in the capa
60 a beta-trefoil fold, which is susceptive for missense mutations causing alpha-dystroglycanopathies in
63 siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located i
65 We explore the conformational impact of GBM missense mutations, combining elastic network models (EN
69 cue bioenergetic defects caused by complex I missense mutations derived from mitochondrial disease pa
70 with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardi
71 ent studies have suggested that conservative missense mutations distal to the OGT catalytic domain le
73 PP provides unique mechanistic insights into missense mutation dysfunction and connection of genotype
75 cs-deficient mice or patients carrying PRKDC missense mutations exhibit an inflammatory gene expressi
78 ons predicted to result in loss of function; missense mutations frequently targeted the GTPase and ki
81 sequences, the observation of OPCML somatic missense mutations from various tumor types and the impa
82 In the more severe type-2 form (TS2), the missense mutation G406R is on exon 8 coding for the IS6-
85 vere multi-system disorder whereas recessive missense mutations had been previously associated with i
87 2,056 species of fish revealed that the same missense mutation has occurred independently and been se
88 y a hypertensive phenotype, and several RGS2 missense mutations have been found predominantly in hype
89 mutational profile is unusual; ~50 different missense mutations have been identified but no obvious l
93 ity in WT FAH and a representative set of 19 missense mutations identified in individuals with HT1.
94 evaluate the impact of four disease-causing missense mutations identified in individuals with TMEM16
96 tion for the majority of tau variants due to missense mutations, implying that MT-targeting therapies
97 The 2 patients shared a homozygous G109S missense mutation in 4-1BB that abolished protein expres
100 ion of a third case with a possibly damaging missense mutation in ATP1A3 and three others cases with
103 t1/3 low seed-set phenotype, we identified a missense mutation in exo70a2, a predicted member of the
104 ingle strand DNA relative to H1047R (A3140G) missense mutation in exon 20 in breast cancer as the mod
108 (rs12129938 in PCNXL2), 3q26.2 (rs6793295 a missense mutation in LRCC34 near TERC), 5q22.1 (rs732274
110 Here, we report an OGT catalytic domain missense mutation in monozygotic female twins (c. X:7077
111 with at least one truncation or deleterious missense mutation in more than 90% of the captured wheat
112 f affected individuals revealed a homozygous missense mutation in PAICS (c.158A>G; p.Lys53Arg) that a
113 dings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the
117 ation sequencing (NGS) analysis identified a missense mutation in SETD2 (p.T1171K), and we demonstrat
119 ickle cell disease results from a homozygous missense mutation in the beta-globin gene that causes po
120 hole-exome sequencing, we identified a novel missense mutation in the binding domain of the STAT3 pro
121 etic sequencing confirmed a homozygous R565Q missense mutation in the catalytic domain of PDE6C, a co
122 ntified a unique patient with a heterozygous missense mutation in the coiled-coil domain of STAT5B th
123 exome sequencing analysis identified a rare missense mutation in the gene encoding pancreas-specific
127 st coding variant in schizophrenia GWAS is a missense mutation in the manganese transporter SLC39A8,
128 g a hypomorphic mutation in one allele and a missense mutation in the other are the most severely aff
129 d focused next-generation sequencing found a missense mutation in the Phosphatidylinositol-4,5-Bispho
130 modeled in Pstpip2(cmo) mice, which carry a missense mutation in the proline-serine-threonine phosph
132 ll revealing that all six patients harbour a missense mutation in the subdomain of TLDc between resid
135 ia coli laboratory strains (CS109) harbors a missense mutation in uppS, which encodes an enzymaticall
136 utations in 58 patients from 31 families and missense mutations in 19 patients from 14 families.
137 s of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding
138 the five suppressor mutants had independent missense mutations in a putative transcriptional regulat
140 to investigate the proteome-wide effects of missense mutations in an application that we refer to as
141 s in four of these five tumor types harbored missense mutations in at least one of the 10 Rho-GAPs.
143 iopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode
146 pathogen, have naturally evolved one or more missense mutations in bfmS, which encodes the sensor his
151 We observed familial segregation of two rare missense mutations in Chondroitin Sulfate Proteoglycan 4
152 B1, SRSF2, and U2AF1 are subject to frequent missense mutations in clonal hematopoiesis and diverse n
154 ts shed new light on the mechanisms by which missense mutations in DNA-binding domains of transcripti
157 value of deep biological analysis of select missense mutations in elucidating the pathogenesis of ne
158 europathies are linked to heterozygosity for missense mutations in five ARS genes, which points to a
160 ntified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R213P) predic
162 en that there are 255 unique disease-causing missense mutations in GLDC, of which 206 remain entirely
174 ts suggest that clinically occurring somatic missense mutations in OPCML have the potential to contri
177 We identified the properties of de novo missense mutations in patients with neurodevelopmental d
180 to the loss of protein expression; however, missense mutations in PBRM1 have been identified and ten
182 r patients showed a heterozygous deletion or missense mutations in PPP2R4 Cancer-associated PTPA muta
183 ere two mouse models carrying two pathogenic missense mutations in Secisbp2 previously identified in
189 cess of COPII-mediated vesicle transport and missense mutations in TFG cause several neurodegenerativ
190 ongenital skeletal muscle disorder caused by missense mutations in the beta-cardiac/slow skeletal mus
191 ilon domains by introducing chromosomal atpC missense mutations in the C-terminal helix 2 of epsilon
192 ibed Mendelian autoimmune disorder caused by missense mutations in the coatomer protein complex subun
193 The condition is driven by nonsense and missense mutations in the dystrophin gene, leading to in
194 y measured the collateral fitness effects of missense mutations in the Escherichia coli TEM-1 beta-la
195 tral valve insufficiency, and four different missense mutations in the filamin A gene (FLNA) have bee
197 g revealed in 4 patients 2 rare heterozygous missense mutations in the gene encoding CARD14, a major
201 liopathy caused by dominant gain-of-function missense mutations in the glial fibrillary acidic protei
203 METDelta14-driven NSCLC, only to observe new missense mutations in the MET activation loop, critical
205 e also report the identification of 2 unique missense mutations in the NME proteins in patients with
208 ain and a large number of patient-associated missense mutations in the RING domain and N-terminal reg
215 CD) of hnRNPA2 fibrillizes under stress, and missense mutations in this domain are found in the disea
219 impacts of temperature sensitivity-inducing missense mutations in two different subunits of the 26S
222 ng the initial case, with three heterozygous missense mutations in WFS1 (4/5 confirmed de novo).
223 ne splicing analyses revealed that the AMELX missense mutation increased exonic definition of exon 4
225 modulators of myosin, and pathogenic myosin missense mutations influenced the proportions of these c
226 duction of two different ChAc disease-linked missense mutations into VPS13A prevents this XK-induced
229 the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding
230 range of molecular mechanisms by which FVIII missense mutations lead to moderate to severe hemophilia
231 We identified 3 human neurodevelopmental missense mutations located in the neurospecific domain o
233 e have isolated a mouse strain with a single missense mutation, Mlkl(D139V), that alters the two-heli
234 lp to analyze the complex relationship among missense mutations, multidomain protein stability, and d
235 1), gene amplifications (n = 35), genes with missense mutations (n = 30), and genes that contain dele
236 report that the human infertility-associated missense mutation (N64I) in MEIOB causes protein degrada
239 nation for the autoimmunity of patients with missense mutations of PRKDC, and suggests that cGAS-medi
245 ed to more accurately predict the effects of missense mutations on protein-protein interaction bindin
246 A key question is whether the heterozygous missense mutations operate through haploinsufficiency or
247 ino acid variants (SAVs; also referred to as missense mutations, or non-synonymous Single Nucleotide
248 ation, and the third carried T182M and G511R missense mutations, overall revealing that all six patie
249 ort a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global
253 second patient was heterozygous for another missense mutation (p.Gly548Ser) and an intronic mutation
256 iking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe
258 -dependent) growth phenotype, different ESR1 missense mutations, prominently observed during estrogen
259 spontaneous mouse mutant shaky, caused by a missense mutation, Q177K, located in the extracellular b
263 nctionally characterizes the most common ATM missense mutation R3008H in cancer and identifies a uniq
268 shift, nonsense, and essential splicing) and missense mutations resulting in poor residual conductanc
269 Modeling and functional analysis of CD37 missense mutations revealed loss of function by impaired
270 he P(o) of these mutations with the proposed missense mutations revealed potential identities of the
277 is identified 412 somatic variants including missense mutations, splice site variants, frameshift ind
279 specificity versions of CURE to create fewer missense mutations than RESCUE-S at the off-targets tran
280 PIK3CA c.3140 A > G (H1047R), a prevalent BC missense mutation that is attributed to BC tumour growth
281 and female mice carrying a homozygous S218L missense mutation that leads to gain-of-function of volt
282 e disorders caused by private, non-recurrent missense mutations that result in varying phenotypes are
283 ation (Ile469_Cys471delinsMetLeu) and 8 TGM1 missense mutations that to our knowledge have not been p
284 vestigated representative disease-associated missense mutations to determine their effects on IP(3)R
286 cancer-associated and functionally relevant missense mutations, we show that although loss of PTEN l
288 s of short indels, splice site, nonsense, or missense mutations were detected in patients with prosta
290 An X-chromosome exome screen identified a missense mutation, which encodes an amino acid in the te
291 plicated in membrane recognition and Jagged1 missense mutations, which affect these loops and are ass
292 tients with inactivating, homozygous SMARCA4 missense mutations who may benefit from SMARCA2-targeted
293 ients carrying a premature stop codon versus missense mutations will likely display different molecul
298 plication syndromes, such as recurrent MAPK3 missense mutations within the chromosome 16p11.2 duplica
299 revealed previously uncharacterized hotspot missense mutations within the SMARCA4 helicase domain.
300 ly, we analysed the effect of three clinical missense mutations (Y793C, R800C, Y849C) on catalysis, u