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1 MC1R agonist- but not MC1R antagonist-conjugated nanopar
2 MC1R and MC3R mRNA and protein were both expressed in th
3 MC1R and TYR are associated with pigmentation, freckling
4 MC1R antagonists human beta-defensin 3 and agouti signal
5 MC1R encodes a 317-amino acid G-coupled receptor that co
6 MC1R encodes a cyclic AMP-stimulating G-protein-coupled
7 MC1R genotype was predictive of hair melanin expressed a
8 MC1R is a candidate gene involved in alternative male mo
9 MC1R nucleotide diversity, pi, was much higher (10.1 x 1
10 MC1R overexpression, treatment with the MC1R ligand, or
11 MC1R palmitoylation, primarily mediated by the protein-a
12 MC1R SNP R163Q was also significantly (P<0.001) associat
13 MC1R variants are more frequent in subjects with melanom
14 MC1R variants may influence orofacial pain perception an
15 MC1R variants may predispose to melanoma as a result of
16 MC1R was positively associated with BRAF V600E cases but
17 MC1R's associations with BRAF V600E cases limited to ind
18 MC1R, number of moles, skin reaction to first summer sun
19 MC1R-cAMP signaling promotes PKA-mediated phosphorylatio
20 ic loci: IRF4 (rs12203592, P=1.8 x 10(-27)), MC1R (compound heterozygosity score, P=2.3 x 10(-24)), a
21 mes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance with
22 curve (AUC) for a model by Han et al. with 7 MC1R variants was 0.72 (95% confidence interval (CI): 0.
24 ude OCA2-HERC2 (combined P = 3.80 x 10(-8)), MC1R (P = 1.82 x 10(-13)), a region near TYR (P = 1.57 x
26 sferase ZDHHC13, is essential for activating MC1R signalling, which triggers increased pigmentation,
28 exhibited excellent MC4R selectivity against MC1R whereas those with an amino acid had moderate MC4R/
29 ating cAMP signaling either by the agonistic MC1R ligand melanocyte stimulating hormone (MSH) or by p
30 less MC1R model containing Mc1r(-/-) albino, MC1R(+)Mc1r(-/-) albino, Mc1r(-/-) pigmented, and MC1R(+
32 a-melanocyte stimulating hormone (alphaMSH), MC1R function can be antagonized by a secreted factor, a
33 didate genes for melanism (ASIP [agouti] and MC1R) and identified three independent deletions associa
34 ecific interaction between MC1R antigens and MC1R-Abs when the target melanoma cells are present in t
37 n, inferring a steroidogenic-independent and MC1R-dispensable anti-proteinuric effect of melanocortin
38 stics (freckles, nevi, phenotypic index) and MC1R status with incident amelanotic melanomas were eval
39 r probe for small-animal PET of melanoma and MC1R expression in melanoma xenografted mouse models.
42 ssociations between self-identified race and MC1R single-nucleotide polymorphisms (SNPs) with severit
48 with wild-type (WT), but not RHC-associated MC1R variants, which protects PTEN from WWP2-mediated de
52 sing due to the specific interaction between MC1R antigens and MC1R-Abs when the target melanoma cell
54 , fear of pain mediated the relation between MC1R variant status and dental fear (B = 1.60, 95% confi
57 s melanoma with an emphasis on CDKN2A, CDK4, MC1R, and MAPK pathway targets (e.g., RAS and BRAF), apo
59 VR susceptibility as a result of compromised MC1R function are unclear, but hypotheses include reduce
65 ese loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q
67 57BL/6J-Mc1r(e/e)J mice, in which endogenous MC1R is prematurely terminated, expressing Mc1r RHC vari
68 melanin ratio, with a dosage effect evident: MC1R homozygote mean, 1.46; heterozygote, 4.44; and wild
69 entally tested signal processing in the FGFR/MC1R/B-Raf/C-Raf/MAPK1,2 network in human melanoma cells
71 defensin 3 (HBD3) acted as an antagonist for MC1R, inhibiting the alpha-melanocortin (alpha-melanocyt
73 timulating hormone (alphaMSH, the ligand for MC1R), therefore MC1R variants could alter the autocrine
74 On the basis of our theoretical model for MC1R, using mutagenesis, we have examined 19 transmembra
79 The results highlight a central role for MC1R palmitoylation in pigmentation and protection again
81 anning, result in a shift in expression from MC1R in favour of chimeric MC1R-TUBB3 isoforms in cultur
83 strategy in mice to rescue loss-of-function MC1R in MC1R RHC variants for therapeutic benefit by act
86 Furthermore, in the absence of functional MC1R, fewer p53 clones were observed in pigmented than i
88 onstructed from four pre-selected functional MC1R SNPs (p = 2.69 x 10(-12)), which was replicated in
89 Consistent with this hypothesis, the gene MC1R exhibits reduced diversity in African populations f
93 Certain variants in a low-penetrance gene, MC1R, the melanocortin 1 receptor gene, increase melanom
97 how MC1R photoprotects, an in vivo hairless MC1R model containing Mc1r(-/-) albino, MC1R(+)Mc1r(-/-)
98 uptake in the B16F10 murine model, with high MC1R expression, but much lower uptake in the A375M huma
101 r (FGFR) and melanocyte stimulating hormone (MC1R) receptors stimulates B-Raf and C-Raf isoforms that
109 gnalling protein, blocks activation of human MC1R, its action is unlike that on the mouse receptor in
111 y in mice to rescue loss-of-function MC1R in MC1R RHC variants for therapeutic benefit by activating
114 ed podocytopathy was completely preserved in MC1R-null mice, marked by reduced albuminuria and dimini
115 Brief treatment with alpha-MSH resulted in MC1R desensitization, whereas continuous treatment up to
116 in IRF4 (Phet = 3.94 x 10(-4)), rs1805007 in MC1R (Phet = 7.71 x 10(-3)), and two SNPs in DEF8 (rs426
118 we investigated whether genetic variants in MC1R modulate the risk of PD by sequencing the entire ge
121 nset BCC risk prediction model incorporating MC1R and indoor tanning extends the work of other skin c
122 llow pheomelanin pigment, whereas increasing MC1R activity stimulates the production of black/brown e
123 irm that ASIP diminishes agonist-independent MC1R basal signaling whereas HBD3 is a neutral MC1R anta
124 We conclude that genetic variations in IRF4, MC1R, RALY/ASIP, and BNC2 contribute to the acquired amo
126 ism promoting trafficking of MC4R and likely MC1R away from the lysosome toward the cell surface.
128 Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associat
137 ling pathway interacts with the p53-POMC/MSH-MC1R signaling pathway, and both are crucial in melanoge
138 -Bip-NH(2) tetrapeptides possessed nanomolar MC1R and MC5R potency but micromolar MC3R and MC4R agoni
141 1R basal signaling whereas HBD3 is a neutral MC1R antagonist that blocks activation by melanocortins.
142 yellow (e/e) mouse, bearing a nonfunctional MC1R, thereby incrementing our knowledge on this topic.
144 coefficient 1.32; 95% CI: 0.23-2.40) but not MC1R SNP genotype was associated with increased itch sco
145 s study identifies and characterizes a novel MC1R isoform (MC1R350) generated by alternative splicing
150 mber of red hair/low pigmentation alleles of MC1R; we found that together these MC1R alleles explaine
151 he sensor performance, such as the amount of MC1R-Abs loaded, incubation time with the target melanom
155 ther phenotypic characteristics, carriage of MC1R variants, and history of amelanotic melanoma are as
156 ompared with wild-type carriers, carriers of MC1R variants were at higher melanoma risk after statist
159 ts into the pleiotropic molecular effects of MC1R signaling that may function during development and
161 he biological consequences of the failure of MC1R variants to suppress PI3K/AKT signaling are highly
162 contact with the first extracellular loop of MC1R through a series of key hydrophobic interactions.
167 addition to the MC1R genotype, regulation of MC1R expression and activity is expected to affect human
168 teristics may not modify the relationship of MC1R variants and melanoma risk, and suggest that associ
170 /F10 melanoma tumors with high expression of MC1Rs and Fox Chase Scid mice bearing human A375M melano
171 rt a model of strong selective constraint on MC1R in Northern Island Melanesia This absence of strong
172 typed for single-nucleotide polymorphisms on MC1R and completed self-report measures of fear of pain
174 were 2387 patients with data for phenotypes, MC1R genotype, and primary melanomas scored for histopat
175 agouti signaling protein, the physiological MC1R antagonist, and were absent in melanocytes expressi
179 iant and one r variant (defined as any non-R MC1R variant; OR, 1.6; 95% CI, 1.3-2.2) and among those
183 oding region of the melanocortin-1 receptor (MC1R) gene is associated with constitutive pigmentation
184 ce variation in the melanocortin-1 receptor (MC1R) gene is associated with red hair in the normal pop
185 hat variants of the melanocortin 1 receptor (MC1R) gene may predict greater levels of dental fear.
188 show that the human melanocortin 1 receptor (MC1R) gene, a critical component of the facultative skin
189 1 that includes the Melanocortin-1 receptor (MC1R) gene, which regulates colour polymorphisms in nume
195 Variation at the melanocortin 1 receptor (MC1R) is very common in most non-African world populatio
196 tion alleles of the melanocortin 1 receptor (MC1R) lead to red hair, freckling, and sun sensitivity.
197 S) are unknown, and melanocortin 1 receptor (MC1R) loss-of-function leads to fibrogenesis in experime
199 design of specific melanocortin-1 receptor (MC1R) targeted imaging probes, we report on the effect o
200 ndividuals carrying melanocortin-1 receptor (MC1R) variants, especially those associated with red hai
203 Loss-of-function in melanocortin 1 receptor (MC1R), a GS protein-coupled receptor that regulates sign
206 is regulated by the melanocortin 1 receptor (MC1R), is an effective protection against melanoma.
207 gene in humans, the melanocortin 1 receptor (MC1R), is known to account for substantial variation in
208 lls expressing melanocortin type-1 receptor (MC1R), that the nature of targeting ligands, i.e., wheth
209 tor, but not to the melanocortin 1 receptor (MC1R), whereas ASIP binds with high affinity to all thre
210 ific ligand for the melanocortin 1 receptor (MC1R), which has been evaluated as a cell-surface marker
215 ne, melanocyte stimulating hormone receptor (MC1R), is strongly associated with distinct differences
216 MSH) receptor (melanocortin type 1 receptor [MC1R]) is overexpressed in most murine and human melanom
218 cterized at the mouse melanocortin receptors MC1R and MC3R-MC5R and human melanocytes known to expres
221 fects on the melanocortin 1 and 4 receptors (MC1R and MC4R) in the skin and the brain, respectively,
223 es have used a Mendelian framework to relate MC1R genotype to phenotype, by measuring pigmentary stat
225 these two ligands is potent in the frog skin MC1R assay (EC(50) = 10(-7) M for 9 and EC(50) = 10(-5)
227 wide range of bioactivities at the frog skin MC1R; e.g. H-d-Phe-c[Hcy-His-d-Phe-Arg-Trp-Cys]-Thr-NH(2
230 that these Gd-Tx micelles are able to target MC1R-expressing xenograft tumors in vitro and in vivo mo
231 times more selective over this receptor than MC1R or MC5R, respectively, and had no detectable bindin
234 is study aimed to replicate the finding that MC1R variant status predicts dental fear and to determin
237 viduals with darker phenotypes indicate that MC1R genotypes specifically provide information about BR
240 ependent Caucasian populations, we show that MC1R variants are strongly associated with BRAF mutation
242 tion and demonstrate for the first time that MC1R isoform-specific expression is closely related to s
246 e Trp(9) in the tetrapeptide template at the MC1R resulted in only up to a 220-fold potency change, w
252 hough this suggested a critical role for the MC1R ligand melanocyte stimulating hormone (MSH) in this
257 nd two different "in-frame" deletions in the MC1R gene are implicated in melanism in jaguars and jagu
258 2 (OCA2) in all eight, and mutations in the MC1R gene were responsible for the red (rather than yell
260 ns unclear whether pigmentary effects of the MC1R can account for all of the increase in cancer risk.
261 s of the MC4R with homologous domains of the MC1R dramatically decreased AGRP 87-132 binding affinity
262 h red hair are homozygous for alleles of the MC1R gene that show varying degrees of diminished functi
263 ined in Melanesians the coding region of the MC1R gene was sequenced in 188 individuals from Northern
265 f the MC4R with the homologous domain of the MC1R resulted in a substantial decrease of AGRP 87-132 b
268 ease in potency was observed, suggesting the MC1R is more tolerant of the modifications examined here
269 of mouse transgenics to demonstrate that the MC1R signaling pathway influences cancer risk via mechan
271 ategies in ruffs and other species, thus the MC1R gene is a strong candidate to play a role in altern
274 MC1R overexpression, treatment with the MC1R ligand, or treatment with small-molecule activators
275 e (alphaMSH, the ligand for MC1R), therefore MC1R variants could alter the autocrine effects of alpha
276 lleles of MC1R; we found that together these MC1R alleles explained 4.1% of variance in skin pattern
278 has shown high in vitro binding affinity to MC1R and excellent in vivo melanoma-targeting profiles w
279 dividuals with red hair and fair skin due to MC1R gene variants are at higher risk of cutaneous neopl
280 nces in melanoma cell behaviour secondary to MC1R variants, and suggest an alternative non-pigmentary
281 that trout MRAP interacts with the two trout MC1R variants and MC2R, but failed to detect regulation
283 SH significantly reduced growth of wild type MC1R transfected cells, but had no effect on cells trans
284 SH increased intracellular cAMP in wild type MC1R transfected melanoma cells, but the cAMP response w
285 senescence; in the presence of BRAF(V600E), MC1R deficiency-induced elevated PI3K/AKT signaling driv
291 non-pigmentary effects in vivo and that when MC1R function is compromised the melanin type in skin is
292 alized upon ligand-receptor binding, whereas MC1R antagonist-conjugated HAuNS remain attached on the
293 alternative non-pigmentary mechanism whereby MC1R variants could modify melanoma susceptibility or pr
294 nvironment, and Melanoma (GEM) study whether MC1R and phenotypes were associated with melanoma BRAF/N
296 0.66, 0.78), while that by Smith et al. with MC1R and indoor tanning had an AUC of 0.69 (95% CI: 0.63
297 btype, the risk for melanoma associated with MC1R is due to an increase in risk of developing melanom
298 ospheres (HAuNS, diameter=40 nm) coated with MC1R agonist are internalized upon ligand-receptor bindi
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