ライフサイエンスコーパス: MAF

1 MAF amplification was assessed by fluorescence in-situ h

2 MAF of apples and potatoes was performed by applying con

3 MAF was also downregulated in human MPNST.

4 MAF:MAFB regulated 393 genes altered in this setting.

5 MAFs ranged as high as 0.72, a level incompatible with p

6 roximately 0.97 to 5.37 km(3) (all +/-17%; 1 MAF approximately 1.233 km(3)), while total annual water

7 burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in p

8 minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to

9 io near DHX15 (rs7698250; P = 1.8 x 10(-10); MAF, 2.7%) and MGAT5B (rs7221059; P = 2.7 x 10(-8); MAF,

10 jury molecule-1), rs7565788 (P=2.15x10(-16); MAF=0.22) in LRP2 (associated with trefoil factor 3 [TFF

11 the Latino sample (P=4.31 x 10(-6); OR=1.25; MAF=1.21%) and two genes harbouring functional variants

12 gene, MAN1C1 (rs12130495; P = 9.9 x 10(-6); MAF, 13.3%) was associated with percent emphysema.

13 s also replicated successfully (beta: -7.8% [MAF 0.32, P = 7.2 x 10(-5)]).

14 an follow-up of 84.6 months (IQR 72.0-95.8), MAF status was not prognostic for invasive-disease-free

15 7%) and MGAT5B (rs7221059; P = 2.7 x 10(-8); MAF, 2.6%), which acts on alpha-linked mannose.

16 or 3 [TFF3]), and rs11048230 (P=4.77x10(-8); MAF=0.10) in an intergenic region near RASSF8 (associate

17 An HRP2 level of >0 U/mL had a MAF of 93% for cerebral malaria, with a MAF of 97% obser

18 It is the first time that a MAF process is used for freezing plant-based products an

19 ad a MAF of 93% for cerebral malaria, with a MAF of 97% observed for HRP2 levels of >/= 10 U/mL (the

20 roteoglycan 4 (CSPG4) (c.391G > A [p.A131T], MAF 7.79 x 10(-5) and c.2702T > G [p.V901G], MAF 2.51 x

21 We propose that paradoxically activated MAFs provide a "safe haven" for melanoma cells to tolera

22 14089985 is infrequent in African Americans (MAF = 3%), extremely rare in European Americans (MAF = 0

23 = 3%), extremely rare in European Americans (MAF = 0.03%), and monomorphic in Asian populations, sugg

24 p.Val98Met, MAF = 12% in African-Americans, MAF = 2% in Hispanics) lowered HbA1c (-0.88% in hemizygo

25 en people of Japanese and European ancestry (MAF(JPN) > 0.05 versus MAF(EUR) < 0.01), including misse

26 two novel genes: HDGFL1 on chromosome 6 and MAF on chromosome 16.

27 AD001 blocked MAF-mediated tumor growth, and MAF regulated the mTOR pathway through DEPTOR.

28 ell help, including IL-21, CXCL13, ICOS, and MAF.

29 Both LD and MAF have a significant impact on the variable importance

30 storing genomic alignments, such as XMFA and MAF, are all indexed or ordered using a single reference

31 We also assessed interactions between MAF-positive status and menopausal status on efficacy of

32 RAD001 blocked MAF-mediated tumor growth, and MAF regulated the mTOR pa

33 nducing coordinate suppression of binding by MAF, lineage-determining transcription factors, and chro

34 ) T cells and enriched in pathways driven by MAF and RORgammat Overall, our study reveals how TCF-1 e

35 ized, enriched for low-abundance proteins by MAF, digested endoproteolytically, randomized again, and

36 nct gene programs, and validated roles for c-MAF and BCL6 as regulators affecting type 1 and type 3 I

37 of distinct cell types in the gonad: MAFB, C-MAF, and VCAM1.

38 le characterized by both the expression of C-MAF and the production of IL-4 and IL-10.

39 Importantly, beta-glucan treatment reduced c-MAF expression in macrophages and monocytes from patient

40 h non-small cell lung cancer (NSCLC) where c-MAF is overexpressed.

41 (MAF 51%) compared to non-endothelial cells (MAF 0%).

42 8%], and were enriched in endothelial cells (MAF 51%) compared to non-endothelial cells (MAF 0%).

43 Paradoxically, chronic MAF overexpression enhanced MPNST cell tumor growth in v

44 20 host DNA sequence variants acting in cis (MAF 0.01-49.9%) and explaining 0.3-70.9% of the variance

45 diabetes in the general population (combined MAF 0.22%; OR 5.04; 95% CI 1.99-12.80; P = 0.0007).

46 c variance attributed to genome-wide common (MAF > 0.01) HapMap 3 SNPs (hg(2)) accounted for on avera

47 Based on sequence conservation, MAF, and location on a complete model of alphaIIbbeta3,

48 ative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3

49 n at 10p13 with rs10904849 intronic to CUBN (MAF = 0.32, P = 7.01 x 10(-8); OR = 1.14).

50 tap water and concentrated with the new CUF-MAF concentration method by a volumetric factor of 10(4)

51 ChIP-seq analysis demonstrated MAF:MAFB binding to known epidermal differentiation TF g

52 (e.g. different MSP thresholds for different MAFs).

53 se variant encoding p.Ala210Thr in HLA-DQA1 (MAF = 19.1%, rs9272785), associated with M. tuberculosis

54 Based on these data, we established MAF thresholds of 0.005 for autosomal-recessive variants

55 enriched for binding by transcription factor MAF.

56 ation (NMF), maximum autocorrelation factor (MAF), and probabilistic latent semantic analysis (PLSA))

57 hod based on monolithic affinity filtration (MAF) for the concentration and purification of waterborn

58 SZ (p = 0.021 for MAF < 0.5%, p = 0.003 for MAF < 0.1%).

59 ators, was associated with SZ (p = 0.021 for MAF < 0.5%, p = 0.003 for MAF < 0.1%).

60 e multisystem disorder, provide evidence for MAF governing a wider range of developmental programs th

61 s and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deaf

62 We identify a novel role for MAF as a transcriptional repressor, preventing expressio

63 gulate the metabolically available fraction (MAF) of the total metal pool by increasing the net accum

64 s a process of multi-affinity fractionation (MAF) and quantitative label-free liquid chromatography t

65 to calculate malaria-attributable fractions (MAFs) and retinopathy-attributable fractions (RAFs).

66 P brain PET imaging: multiacquisition frame (MAF) and event-by-event (EBE).

67 t of low energy microwave assisted freezing (MAF) on freezing time and quality attributes (microstruc

68 dentified: 20 with minor allele frequencies (MAF) >0.05 and 12 with MAF >0.10.

69 ding variants with minor allele frequencies (MAF) >1% that were identified were presumed initially to

70 variants, 96% had minor allele frequencies (MAF) < 0.1%, indicating their rarity.

71 cularly those with minor allele frequencies (MAF) of < 30%, have not been identified and/or validated

72 phisms (SNPs) with minor allele frequencies (MAFs) > 0.05 were found among the 512 tested accessions.

73 how that SNPs with minor allele frequencies (MAFs) of 0.1-1% explain a substantial fraction of prosta

74 ntrols, indicating a minor allele frequency (MAF) > 0.00006.

75 6.7 million common (minor allele frequency (MAF) > 0.05) and 2.7 million low-frequency (0.005 < MAF

76 orphisms (SNPs) with minor allele frequency (MAF) > 0.1% and imputation quality score > 0.3.

77 orphisms (SNPs) with minor allele frequency (MAF) >0.01 using linear regression of VSS height score o

78 were common, with a minor allele frequency (MAF) >5%, one had low frequency (MAF 1%-5%), and 11 were

79 43571823-T947M) with minor allele frequency (MAF) < 1% and 1 common variant (rs2298813-A528T) with MA

80 s, including 6 rare (minor allele frequency (MAF) < 1%) or low-frequency (1% < MAF < 5%) variants wit

81 nsider variants with minor allele frequency (MAF) < 1%.

82 e and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI.

83 3 rare variants with minor allele frequency (MAF) <0.5%.

84 505922 (beta: -6.5% [minor allele frequency (MAF) 0.32, P = 3.3 x 10(-8)]) located in the ABO gene re

85 amine low-frequency (minor allele frequency (MAF) 0.5-5%) and rare (MAF < 0.5%) nonsynonymous variant

86 iation (rs146350366, minor allele frequency (MAF) 1.2%, P = 3.2 x 10(-8), odds ratio (OR) = 1.4) for

87 t to the cartilage [mutant allele frequency (MAF) 6-8%], and were enriched in endothelial cells (MAF

88 an uncommon variant [minor allele frequency (MAF) = 0.025] located ~800 kb from ADIPOQ that showed st

89 15 in HBG2 and HBE1, minor allele frequency (MAF) = 0.03).

90 6092 and rs13145758 (minor allele frequency (MAF) = 25-44%; P < 3 x 10(-14)) of solute carrier family

91 (HLAs): rs557011[T] (minor allele frequency (MAF) = 40.2%), associated with M. tuberculosis infection

92 mprinted KCNQ1 gene (minor allele frequency (MAF) = 7.7% in Sardinia versus <1% elsewhere) reduces he

93 the privacy loss in minor allele frequency (MAF) and chi-square queries.

94 ases with decreasing minor allele frequency (MAF) and linkage disequilibrium (LD) consistent with the

95 atically affected by minor allele frequency (MAF) and linkage disequilibrium (LD).

96 on from markers with minor allele frequency (MAF) as low as 0.0001.

97 ned here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF below 0.5%) varia

98 which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF </= 1%) variants contri

99 thod to estimate the minor allele frequency (MAF) dependence of SNP effect sizes.

100 one infant only with minor allele frequency (MAF) of 0.0023.

101 ion of variants to a minor allele frequency (MAF) of 0.1%.

102 tified using minimum minor allele frequency (MAF) of 5%.

103 old is influenced by minor allele frequency (MAF) of the SNPs, and by the number of individuals teste

104 ariants had distinct minor allele frequency (MAF) spectra between people of Japanese and European anc

105 Using a minor allele frequency (MAF) threshold of 2%, we identified 189 heteroplasmies i

106 The minor allele frequency (MAF) was greater for MUC5B rs35705950 in patients with c

107 by analyzing common [minor allele frequency (MAF)>0.05] variants in increasingly large sample sizes f

108 low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect size

109 tability varies with minor allele frequency (MAF), linkage disequilibrium (LD) and genotype certainty

110 to markers with low minor allele frequency (MAF).

111 ual common variants (minor allele frequency (MAF)0.05), aggregate low frequency variants (0.05>MAF0.0

112 e identified a rare (minor allele frequency (MAF)=1%) missense c.1114C>T mutation (rs115482041) in th

113 s ratio (OR) = 0.68, minor allele frequency (MAF)cases = 0.0059, MAFcontrols = 0.0093), a risk varian

114 when the causal variant is of low frequency (MAF < 0.01).

115 eotide polymorphisms are with low frequency (MAF < 5%) in Europeans.

116 frequency (MAF) >5%, one had low frequency (MAF 1%-5%), and 11 were rare (MAF <1%).

117 ntify low-frequency (minor allele frequency [MAF] >/=0.01 and <0.05) and rare (MAF <0.01) variants th

118 rare variants (e.g., minor allele frequency [MAF] <0.01) is the difficulty that automated clustering

119 betes risk (combined minor allele frequency [MAF] 0.22%; odds ratio [OR] 2.02; 95% CI 0.73-5.60; P =

120 arked by rs72647484 (minor allele frequency [MAF] = 0.09) near CDC42 and WNT4 (P = 1.21 x 10(-8), odd

121 33 locus (rs9831894; minor allele frequency [MAF] = 0.40) was associated with DLBCL risk [odds ratio

122 p.(Lys70IlefsTer26, minor allele frequency [MAF] = 0.8%), was associated with decreased ultradistal

123 n MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 x 10(-10) for hemoglobin [HGB]) and H

124 y genetic variation (minor allele frequency [MAF]) approximately 0.1%-5% on MI/coronary artery diseas

125 Ultra-rare (minor allele frequency [MAF], <=0.0001) CFH variants were identified as the caus

126 9; P = 1.1 x 10(-9); minor allele frequency [MAF], 4.4%).

127 5820 (P=6.7x10(-49); minor allele frequency [MAF]=0.49) in HAVCR1 (associated with kidney injury mole

128 ommonly distributed (minor allele frequency, MAF > 5%) in Europeans, with comparable frequencies with

129 n height and common (minor allele frequency, MAF >/=5%) or infrequent (0.5% < MAF < 5%) variants acro

130 dentified 15 common (minor allele frequency, MAF >=5%) and nine low-frequency or rare (MAF <5%) codin

131 1.25, P = 5.8 x 10(-12)), and rs9271378[G] (MAF = 32.5%), associated with PTB (OR = 0.78, P = 2.5 x

132 es, including glucose transporter 2 (Glut2), MAF BZIP transcription factor A (MafA), and uncoupling p

133 -disease-free survival in the control group (MAF-positive vs MAF-negative: hazard ratio [HR] 0.92, 95

134 (p value < 6.6 x 10(-9)) among which 53 had MAF < 5%.

135 entinel variant and not in close LD (six had MAF <5%).

136 r database inspections revealed variants had MAF of </=1% in the general population.

137 % CI 0.56-0.98), but not in patients who had MAF-positive tumours.

138 is the major determinant of the heteroplasmy MAF in the offspring.

139 twin pairs, suggesting that the heteroplasmy MAF in the oocyte is the major determinant of the hetero

140 loaponeurotic fibrosarcoma oncogene homolog (MAF), a leucine zipper-containing transcription factor o

141 loaponeurotic fibrosarcoma oncogene homolog (MAF), a transcriptional activator of key target genes, i

142 the present study, we have investigated how MAF overexpression impacts resistance to proteasome inhi

143 Numerous reports have identified MAF BZIP Transcription Factor B (MAFB) to be present in

144 Module mapping of 1,046 TFs identified MAF and MAFB as necessary and sufficient for progenitor

145 Using transcriptome analysis we identified MAF as an NF1- regulated transcription factor and verifi

146 sociation with decreased ITGB7 expression in MAF-translocated MM cell lines.

147 for clinical evaluation of MEK inhibitors in MAF-expressing myeloma.

148 Z twin pairs exhibited greater similarity in MAF at heteroplasmic sites than DZ twin pairs, suggestin

149 rces of technical variability: i) incomplete MAF and keratins; ii) globally- or segmentally-decreased

150 ation of MAF protein, resulting in increased MAF protein stability and PI resistance.

151 INTERPRETATION: MAF status can predict likelihood of benefit from adjuva

152 6PD coding variant (rs76723693, p.Leu353Pro, MAF = 0.5%; -0.98% in hemizygous males, -0.46% in hetero

153 g both common variants and variants with low MAF) and statistical power, particularly for the analysi

154 0.05) and 2.7 million low-frequency (0.005 < MAF < 0.05) variants.

155 cemic traits based on low-frequency (0.005 < MAF </= 0.05) variants, and additional low-frequency, po

156 es, imputation of rare variants with 0.01% < MAF </= 0.5% with the combined reference panel increased

157 For rare variants with 0.01% < MAF </= 0.5%, imputation in the Framingham Heart Study w

158 However, for less common SNPs (0.05 < MAF <= 0.1), the permutation threshold calculated over a

159 frequency (MAF) < 1%) or low-frequency (1% < MAF < 5%) variants with platelet count (PLT), red blood

160 frequency, MAF >/=5%) or infrequent (0.5% < MAF < 5%) variants across the exome in African Americans

161 9 <= OR <= 2.91, 0.005 <= p <= 0.04, 11.8 <= MAF <= 40.9%), and implicated its interaction with ERCC8

162 have applied this strategy to produce mCCL2-MAF as the first probe for in vivo detection of metastas

163 ase 3beta (GSK3beta)-mediated degradation of MAF protein, resulting in increased MAF protein stabilit

164 o the translocation-mediated deregulation of MAF and MAFB, a known poor prognostic factor.

165 MAFB loss, indicating they act downstream of MAF:MAFB.

166 ate a potential correction for the effect of MAF using pseudocovariates.

167 Acute re-expression of MAF promoted expression of glial differentiation markers

168 High expression of MAF protein in t(14;16) was associated with significantl

169 High levels of MAF protein were found in t(14;16) cell lines; cell line

170 Loss of MAF or MAFB expression results in decreased APOBEC3B and

171 simulations, we validate the alpha model of MAF-dependent trait effects and assess plausible values

172 In contrast, overexpression of MAF resulted in increased resistance to PIs and reduced

173 The gene segments on mature peptide part of MAF-1 were cloned, based on the primers designed accordi

174 These results define the role of MAF and GSK3 in the resistance of t(14;16) MM to PIs and

175 s designed according to the cDNA sequence of MAF-1.

176 F:MAFB target gene subsets in the setting of MAF:MAFB loss, indicating they act downstream of MAF:MAF

177 lays the foundation for the further study of MAF-1 biological activity, the relationship between stru

178 ocytes through the sequential suppression of MAF and RORgammat, in parallel with TCF-1-driven modulat

179 blishes the recombinant expression system of MAF-1 (Musca domestica antifungal peptide-1) and demonst

180 -9)) and a new independent variant in PDE8B (MAF=10.4%, P=5.94 x 10(-14)).

181 articularly for low-frequency polymorphisms (MAF < 5%), when low coverage sequence reads are added to

182 using the results of differentially private MAF queries and utilizing the dependency between tuples,

183 mutations were demonstrated to impair proper MAF phosphorylation, ubiquitination and proteasomal degr

184 The proposed MAF thresholds will facilitate clinical interpretation o

185 ADIPOQ-coding region detected variant R221S (MAF = 0.015, P = 2.9 x 10(-69)), which explained 17.1% o

186 lele Frequency = 0.27) and rs2293925 (R525W, MAF = 0.45), which tend to be mutually exclusive across

187 We analyze rare (MAF < 0.1%) variants against 4264 phenotypes in 49,960 e

188 nor allele frequency (MAF) 0.5-5%) and rare (MAF < 0.5%) nonsynonymous variants, we analyzed exome ar

189 lele frequency (MAF) between 1-5%) and rare (MAF </= 1%) variants contribute to complex traits and di

190 frequency [MAF] >/=0.01 and <0.05) and rare (MAF <0.01) variants that influence plasma concentrations

191 requency (MAF) between 0.5 and 5%] and rare (MAF below 0.5%) variants.

192 n coding sequences and all but one are rare (MAF <2%) with SCr effects between 0.085 and 0.129 standa

193 Despite being twice as rare (MAF<0.5%), c.1114C>T showed similar effect and significa

194 65 control samples, we identified five rare (MAF <= 0.001) deleterious variants in SB patients, while

195 and SEC24C (SEC24 family member C) had rare (MAF < 0.001) predicted deleterious single-nucleotide var

196 significant increase in the burden of rare (MAF </=1%) 1-30 kb CNV, 1-30 kb deletions, and 1-10 kb d

197 y, MAF >=5%) and nine low-frequency or rare (MAF <5%) coding novel variants.

198 5 (27%) putatively clinically relevant rare (MAF < 1%) variants genotyped on the UKB microarray.

199 d) showing significant burden of ultra-rare (MAF < 0.01%) gene-disruptive mutations (FDR 5%), six of

200 Four of the coding polymorphisms were rare (MAF < 1%) and three of those were novel.

201 low frequency (MAF 1%-5%), and 11 were rare (MAF <1%).

202 F3 levels identified 197 variants (152 rare; MAF<0.05), 31 of which (27 rare) were nonsynonymous.

203 petent cell of BL21(DE3) to gain recombinant MAF-1 fusion protein with His tag sequence through purif

204 nduct the Western Blotting test, recombinant MAF-1 fusion protein was used to produce the polyclonal

205 monstrate that the MEK-ERK pathway regulates MAF transcription, providing molecular rationale for cli

206 controlled by the transcriptional regulators MAF:MAFB.

207 nsynonymous SNV in GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG (beta=-0.09+/-0.01 mmol l(-1), P

208 common missense variant in CPS1 (rs1047891, MAF = 0.33, discovery + replication p = 6.38 x 10(-10))

209 region flanking the FOXB1 gene (rs10519031, MAF 0.04, OR 3.0, 95% CI 2.02-4.49, p-value 6.68 x 10(-8

210 multiple domains 1 (CSMD1) gene (rs11136645; MAF = 0.49), was significantly associated with decreased

211 m, P = 8.3E-08), 13q14.2/SPRYD7/rs114089985 (MAF = 0.03, beta = 1.46 cm, P = 4.8E-10) and 17q23.3/GH2

212 ants near PLB1 with risk of RA (rs116018341 [MAF = 0.042] and rs116541814 [MAF = 0.021], combined P =

213 (rs116018341 [MAF = 0.042] and rs116541814 [MAF = 0.021], combined P = 3.2 x 10(-6)).

214 4%, P = 1.3 x 10(-8), OR = 1.7; rs143445068, MAF = 0.8%, P = 5.2 x 10(-9), OR = 3.4; rs183453668, MAF

215 A9) and rs41481455, rs2231142 and rs1481012 (MAF = 29%; p < 3 x 10(-9)) of ATP-binding cassette prote

216 re synonymous variant in GFI1B (rs150813342, MAF = 0.009, discovery + replication p = 1.79 x 10(-27))

217 1.21 ) and at 16q24.1 marked by rs16941835 (MAF = 0.21, P = 5.06 x 10(-8); OR = 1.15) within the lon

218 for association: 5p13.3/C5orf22/rs17410035 (MAF = 0.10, beta = 0.64 cm, P = 8.3E-08), 13q14.2/SPRYD7

219 for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p < 3 x 10(-8) for hematocrit [HCT] and HGB)

220 8%, P = 5.2 x 10(-9), OR = 3.4; rs183453668, MAF = 0.5%, P = 2.8 x 10(-8), OR = 3.8).

221 lanking the DAD1 and OXA1L genes (rs1999071, MAF 0.32, OR 1.78, 95% CI 1.45-2.18, p-value 2.83 x 10(-

222 cm, P = 4.8E-10) and 17q23.3/GH2/rs2006123 (MAF = 0.30; beta = 0.47 cm; P = 4.7E-09).

223 as a less common variant E168G (rs200673353, MAF = 0.001), and studied their biochemical properties b

224 rare missense variant in ALAS2 (rs201062903, MAF = 0.2%) associated with lower mean corpuscular volum

225 drives the association signal (rs201622589, MAF 0.1%, odds ratio = 10.13, p-value = 0.042) and resul

226 th higher RBC distribution width (rs3211938, MAF = 8.7%, p = 7 x 10(-11)) and showed that it is assoc

227 ocus identified on chromosome 7 (rs56226325, MAF=0.17) near MAD1L1 was previously identified in GWASs

228 We identify rs651007 (MAF=20%) in the first intron of ABO at the putative prom

229 cation studies, the 3p24.1 locus (rs6773363; MAF = 0.45) was also associated with DLBCL risk (OR = 1.

230 multiple consecutive miscarriage (rs7859844, MAF = 6.4%, P = 1.3 x 10(-8), OR = 1.7; rs143445068, MAF

231 2-4.49, p-value 6.68 x 10(-8) and rs8029377, MAF 0.03, OR 2.49, 95% CI 1.76-3.53, p-value 2.45 x 10(-

232 value = 0.05) and 375,984 Icelandic samples (MAF = 0.03%, arm BMD P-value = 0.12, forearm fracture P-

233 permutations of the actual data for several MAF bins.

234 ain-of-function models showed that silencing MAF led to increased sensitivity to PIs, enhanced apopto

235 low-frequency variant near B4GALT6/SLC25A52 (MAF=3.2%, P=1.27 x 10(-9)) tagging a rare TTR variant (M

236 atory network, which revealed that the small MAF transcription factors are master regulators of the V

237 unstable, and defective at binding to small MAF proteins and transcriptional activation.

238 For the more common SNPs (MAF > 0.1), the permutation family-wise threshold was in

239 ropean ancestry, restricting to common SNPs (MAF > 5%), and find that most common causal SNPs are sha

240 A group of 45,382 high quality SNPs (MAF >0.05; missing data <5%) were selected for analysis

241 of these TFs rescued expression of specific MAF:MAFB target gene subsets in the setting of MAF:MAFB

242 or TSH, we identify a novel variant in SYN2 (MAF=23.5%, P=6.15 x 10(-9)) and a new independent varian

243 ariants for lumbar spine BMD (rs11692564(T), MAF = 1.6%, replication effect size = +0.20 s.d., Pmeta

244 e effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size = +0.41 s.d., Pmeta

245 mma-mediated gene repression and reveal that MAF regulates the macrophage enhancer landscape and is s

246 The MAF column consists of a hydrolyzed macroporous epoxy-ba

247 The MAF method divides scan data into short subframes, recon

248 The MAF-1 recombinant fusion protein was purified to exhibit

249 chromatin immunoprecipitation, FOS bound the MAF promoter, and MEK inhibition decreased this interact

250 at the freezing time was not affected by the MAF process.

251 blurring due to the intraframe motion in the MAF motion-correction method.

252 rtional to [p(1 - p)](alpha), where p is the MAF and negative values of alpha imply larger effect siz

253 ed viruses to the macroporous surface of the MAF column at pH 3, concentrated matrix components by CU

254 and reproduction are expressed based on the MAF of copper, the sensitivity of the two species appear

255 better recovers the fine structures than the MAF method, as compared with anesthetized studies.

256 The MAFs were similar to those for IPF (UCSF 33.3%, p=0.09;

257 found that the V256I variant was enriched to MAF = 0.64 in NCI-60 lung carcinoma cell lines, whereas

258 es, whereas the TOP1MT R525W was enriched to MAF = 0.65 in the NCI-60 melanoma cell lines.

259 tation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed 7 kg more than non-carriers.

260 actures was further evaluated in 279,435 UK (MAF = 0.05%, heel bone estimated BMD P-value = 1.2 x 10(

261 ANCR and TINCR lncRNAs as essential upstream MAF:MAFB regulators.

262 MAF 7.79 x 10(-5) and c.2702T > G [p.V901G], MAF 2.51 x 10(-3)).

263 iated G6PD variant (rs1050828-T, p.Val98Met, MAF = 12% in African-Americans, MAF = 2% in Hispanics) l

264 d pathogenic deafness variants using variant MAFs from multiple distinct ethnicities and sequenced by

265 P=1.27 x 10(-9)) tagging a rare TTR variant (MAF=0.4%, P=2.14 x 10(-11)).

266 of h2SNP is represented by common variants (MAF > 0.01) and 30% by rare variants.

267 single variant analysis for common variants (MAF > 0.01) and rare variant analysis for low frequency

268 Common variants (MAF > 0.05) were adjusted for age at cancer diagnosis, C

269 en after adjusting for more common variants (MAF > 1%).

270 t meta-analysis results for common variants (MAF>/=1%) associated with TSH and FT4 (N=16,335).

271 e combined effect of low frequency variants (MAF </= 5%) provided strong evidence of association with

272 Rare/low-frequency variants (MAF <= 0.05) were evaluated jointly by various functiona

273 lustering pattern of rare missense variants (MAF < 0.01) in a protein is associated with mode of inhe

274 not identify any protein-modifying variants (MAF > 0.01) with moderate or large effect sizes in endom

275 unidentified, nonsynonymous PPARG variants (MAF < 0.5%).

276 nalysis for low frequency and rare variants (MAF < 0.05).

277 er rare variant effect sizes, rare variants (MAF < 1%) explain less than 10% of total SNP-heritabilit

278 (0.05>MAF0.005) and aggregate rare variants (MAF<0.005).

279 Analysis of rare variants (MAF<1%) using sequence kernel association testing reveal

280 regulated transcription factor and verified MAF regulation through RAS/MAPK/AP-1 signaling in malign

281 nd European ancestry (MAF(JPN) > 0.05 versus MAF(EUR) < 0.01), including missense variants in genes r

282 cy due to reactivation of mTOR signaling via MAF.

283 rvival in the control group (MAF-positive vs MAF-negative: hazard ratio [HR] 0.92, 95% CI 0.59-1.41),

284 c acid group) and the remaining tumours were MAF negative.

285 184 (21%) tumours were MAF positive (85 in the control groups and 99 in the zol

286 n 3%) similarly to the static study, whereas MAF motion correction using the standard algorithm setti

287 We investigated whether MAF amplification (a biomarker for bone metastasis) in p

288 Is and identifies a novel mechanism by which MAF protein levels are regulated by PIs, which in turn c

289 r allele frequencies (MAF) >0.05 and 12 with MAF >0.10.

290 and 1 common variant (rs2298813-A528T) with MAF = 14.9% segregated within families and were deemed d

291 Genes associated with MAF-binding enhancers were suppressed in macrophages iso

292 00C > A and -181A > C were more common (with MAF of 0.46 and 0.49, respectively) and showed string ev

293 nation assays for 12 SNPs from 11 genes with MAF>0.05 and genotyped these SNPs in Caucasian subjects

294 In patients with MAF-negative tumours, zoledronic acid was associated wit

295 nts not postmenopausal at randomisation with MAF-positive tumours, zoledronic acid was associated wit

296 (SNVs) were observed and 80% were rare with MAF <1%.

297 n increasing imputation accuracy of SNP with MAF below 0.1 and for SNP located in the chromosomal ext

298 nce with only 5 queries, even when SNPs with MAF <0.05 are hidden.

299 42% of the variance contributed by SNPs with MAF of 0.1-50%).

300 novel) and captured 85% of the variants with MAF>/=1% found by the 1000 Genomes Project in Europe-anc