ライフサイエンスコーパス: modifier gene

1 occurs depends on genetic background (i.e., modifier genes).

2 ute to POAG and that WDR36 may be a glaucoma modifier gene.

3 nd, thus, it is proposed that Kif12 is a cpk modifier gene.

4 the identification of this elusive epistatic modifier gene.

5 n BRCA1 tumors and thought to harbor a BRCA1 modifier gene.

6 ntestinal tumorigenesis, but it may act as a modifier gene.

7 ostulated that it might harbor an autoimmune modifier gene.

8 at another locus, which is referred to as a modifier gene.

9 identified Anxa6, encoding annexin A6, as a modifier gene.

10 jection; therefore, NaStEP is a novel pistil-modifier gene.

11 tibility to determine whether Kitl is a TGCT modifier gene.

12 g growth factor-beta1 (TGFB1), a putative CF modifier gene.

13 arge extent by its genetic heterogeneity and modifier genes.

14 ing and by manipulating expression levels of modifier genes.

15 ined by the underlying mutation and putative modifier genes.

16 y of SMA may be influenced by the actions of modifier genes.

17 members suggests the presence of additional modifier genes.

18 non-Mendelian inheritance patterns involving modifier genes.

19 ssociation study (GWAS) predicted additional modifier genes.

20 er and chromosomal location of potential Ods modifier genes.

21 to tumor immunosurveillance is regulated by modifier genes.

22 ore frequent mutations in RHOB and chromatin modifier genes.

23 ations have revealed many possible candidate modifier genes.

24 netic background, suggesting the presence of modifier genes.

25 of strong genetic interactions between tumor modifier genes.

26 c map locations of the metastasis efficiency modifier genes.

27 titative trait that is strongly modulated by modifier genes.

28 d age of onset, suggesting the activities of modifier genes.

29 e, we have explored the utility of targeting modifier genes.

30 e of additional causative, contributing, and modifier genes.

31 e most comprehensive catalog of ASO-activity modifier genes.

32 was performed to search for rare defects in modifier genes.

33 ts the existence of trans-acting variants in modifier genes.

34 screen using RNAi lines targeting known PEV modifier genes.

35 ential candidates for novel SCA causative or modifier genes.

36 recurrent somatic alterations in epigenetic modifier genes.

37 fibrosis (CF) that is strongly influenced by modifier genes.

38 e the conflicting effect of 129SvEv-specific modifier genes.

39 of BLOC-1 function and its interactions with modifier genes.

40 train-dependent, suggesting the influence of modifier genes.

41 pment through direct regulation of unlinked "modifier" genes.

42 To date, two essential pistil-modifier genes, 120K and High Top-Band (HT-B), have been

43 s early as two weeks of age, suggesting that modifier genes act by influencing glomerular basement me

44 BC membrane characteristics are a target for modifier gene action.

45 onents of rare nonsynonymous variants in 110 modifier genes (adjusted P = 9.4E-04) that overall accou

46 It has now recognized that modifier genes affect the expression of cardiac phenotyp

47 The modifier genes affected by rare coding variants were enr

48 on for the strength of selection acting on a modifier gene affecting the genetic map length of a whol

49 Our results provide the first evidence of a modifier gene affecting the Tsc2 pathway in the progress

50 bred strains of mice can be used to identify modifier genes affecting the susceptibility to inherited

51 The mechanism by which modifier genes alter adenoma incidence can be readily st

52 This suggested that genetic background or modifier genes alter the clinical manifestations and pro

53 of ADR toxicity and identify Prkdc as a MDDS modifier gene and a component of the mitochondrial genom

54 ons, including potential roles for PON1 as a modifier gene and for PON1 protein as a regulator of nor

55 Because modifier genes and digenic inheritance are not always di

56 in terms of identification of new causative/modifier genes and polygenic conditions.

57 We propose testing specifically for modifier genes and protective alleles among at-risk indi

58 ive selection for DNA mutations in chromatin modifier genes and recurrent somatic chromatin accessibi

59 The mapping of these modifier genes and their eventual identification will he

60 r genetics and assess progress in studies of modifier genes and their targets in both simple and comp

61 region of the mouse genome is rich in tumor-modifier genes and this positioning of Ram1 may thus pro

62 ated opaque QPM variants to identify opaque2 modifier genes and to investigate deletion mutagenesis c

63 effect working alone or in combination with modifier genes and/or environmental factors.

64 among patients with HbSS suggests a role for modifier genes and/or environmental influences.

65 etween the causal genes, genetic background (modifier genes), and probably the environmental factors.

66 ul platform for studying GD pathophysiology, modifier genes, and immune dysregulation.

67 ncy will facilitate studies of pathogenesis, modifier genes, and testing of therapeutic approaches.

68 ential interactions with the environment and modifier genes, and the myriad of potential signaling pa

69 eractions among genetic etiology, background modifier genes, and/or hemodynamic factors.

70 establishes the principle that mouse cancer modifier genes are candidates for low penetrance human b

71 Mutations in chromatin modifier genes are frequently associated with neurodevel

72 We hypothesized modifier genes are partly responsible for the variation

73 Nuclear modifier genes are proposed to modify the phenotypic exp

74 t polymorphisms in some low-penetrance tumor modifier genes are reflected in the pattern of somatic a

75 mistry and genetics indicate that additional modifier genes are required.

76 The CFTR gene along with 2 or more modifier genes are the major determinants of intestinal

77 defects, modeling human HPE and implicating modifier genes as a cause of variability.

78 We attempted to map the modifier genes as quantitative trait loci (QTLs) using a

79 d suggests that it is suited for identifying modifier genes associated with Apc (Min/+) mutation, aft

80 e mutation, suggesting that Kitl is the TGCT modifier gene at the Steel locus.

81 me gene mutation has prompted the search for modifier genes at other loci, and for environmental fact

82 meiotic mutant desynaptic is a recombination modifier gene based on cytogenetic and segregation analy

83 (dy) was tested as a candidate recombination modifier gene because its effect is manifested in propha

84 elopment is regulated by products of several modifier genes, but instructions for their tumor-specifi

85 Alleles of modifier genes can either buffer perturbations on cardia

86 To aid identification of potential genetic modifier genes causing these effects, we searched public

87 ated K8; and 4) higher production of the MDB-modifier gene CD73.

88 tion-based study that two previously studied modifier genes, coding for mannose-binding lectin 2 and

89 actors, either environmental or genetic (eg, modifier genes), contribute to the pathogenesis of XLP.

90 Targeting compensatory modifier genes could be beneficial to improve disease ph

91 the etiology, identification of the specific modifier genes could have significant prognostic and the

92 ests that the common polymorphic variants of modifier genes could influence drug response in cardiova

93 1-null animals are influenced by one or more modifier genes, counterparts of which may play a similar

94 at glial cell-specific loss of the chromatin modifier gene dATRX in the subperineurial glial layer le

95 responses to epithelial damage, acting as a modifier gene determining the extent of the gut inflamma

96 Twin analysis suggested that modifier genes did not play a significant role because t

97 t stem cells, in silico variant modeling and modifier gene discovery, now in their earliest stages, w

98 Using a systematic approach toward modifier gene discovery, we have found five chromosome I

99 cluded testing of Huntington's disease onset modifier genes emerging from human genome-wide associati

100 orphisms were sequenced in candidate genetic modifier genes encoding known RPGR-interacting proteins.

101 Interaction of the susceptibility genes with modifier genes, environmental factors, and conventional

102 Notably, mutations in epigenetic modifier genes exhibited a higher prevalence of MRD posi

103 d the mouse orthologs of two HD age-at-onset modifier genes, FAN1 and RRM2B, for an influence on soma

104 idate for containing the first human nuclear modifier gene for a mitochondrial DNA disorder.

105 ne, which support the candidacy of Fmn1 as a modifier gene for AS.

106 velopment and implicate Gata5 as a candidate modifier gene for congenital heart disease.

107 acid beta-galactosidase gene functions as a modifier gene for the phenotypic expression of genetic g

108 ROS-scavenging genes may be among the common modifier genes for alleviating the fitness cost of insec

109 nsidering SDHx as candidate predisposing and modifier genes for CS/CSL-related malignancy risks, and

110 The individual modifier genes for HCM remain largely unknown, and a lar

111 Whole-exome sequencing identified candidate modifier genes for individuals with severe FD.

112 ro screen to triage and prioritize candidate modifier genes for more detailed future studies which is

113 causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients.

114 en driven by congenic introduction of linked modifier genes from non-NOD background strains and initi

115 We show that while some modifier genes function similarly in SCA1 and HD Drosoph

116 led a second SJL-derived, GC tumor frequency modifier gene, Gct6, located 6.5 cM distal to Gct4 on Ch

117 ploring the role of genetics/genomics (e.g., modifier genes, gene-environmental interactions, and epi

118 omal loci: the melanosomal gene, SILV, and a modifier gene, harlequin (H), previously localized to ch

119 apeutic interventions aimed at targeting the modifier genes have shown salutary effects in animal mod

120 Three SUMO (small ubiquitin-related modifier) genes have been identified in humans, which ta

121 explaining dominance that renders Fisher's 'modifier genes' hypothesis otiose.

122 uable for quantitative trait locus (QTL) and modifier gene identification.

123 Modifier genes identified in our screen connect Ppt1 fun

124 overed damaging coding variants in candidate modifier genes identified in previous genome-wide associ

125 tory increase in the expression of chromatin modifier genes implicated in X silencing is observed.

126 DECTIN-1/CLEC7A emerges as a modifier gene in CTLA-4h, increasing expressivity of CTL

127 osphate kinase that has been implicated as a modifier gene in cystic fibrosis.

128 teracted by ADPRH, which could function as a modifier gene in disease.

129 Coincident mapping of a modifier gene in multiple experimental crosses using dif

130 cy, and the alpha1-ATZ mutation may act as a modifier gene in patients with concurrent cholestatic li

131 hlight the potential of Ras to function as a modifier gene in repressing mammary carcinogenesis.

132 es, and the KCC1 gene has been proposed as a modifier gene in sickle cell disease.

133 n some Heinz body hemolytic anemias and as a modifier gene in the beta-thalassemia syndromes.

134 a gene previously identified as a candidate modifier gene in the cpk mouse model of polycystic kidne

135 Studies of modifier genes in cystic fibrosis (CF) have often been p

136 ed pivotal roles in the expansion of histone modifier genes in F. vesca.

137 Identifying and studying rare disease modifier genes in families may lead to therapeutic targe

138 of additional potential histone acetylation modifier genes in human disease, we identified six histo

139 e conspired to focus interest on the role of modifier genes in humans.

140 We have mapped tumor-modifier genes in intraspecific crosses between transgen

141 This approach can identify modifier genes in kidney disease that can be used as nov

142 tionally, the role of epigenetic changes and modifier genes in mediating transitions from self-incomp

143 Our results indicate that one or more modifier genes in Mh control the extent to which in vivo

144 ariation and that these hub genes may act as modifier genes in multiple, mechanistically unrelated ge

145 y interacting epigenetically with other TGCT modifier genes in previous generations.

146 rent knowledge of the genetics and candidate modifier genes in PXE, a multifactorial disease at the g

147 udy describes an original approach to detect modifier genes in rare diseases and reinforces rising li

148 fects of rare coding variants and identified modifier genes in this etiologically homogenous cohort (

149 addition, they demonstrate the importance of modifier genes in vertebrate axonal guidance.

150 Top mutant huntingtin toxicity modifier genes included several Nme genes and several ge

151 Several potential modifier genes including genes encoding the components o

152 tients with GKD indicates the involvement of modifier genes, including other network partners.

153 and siblings (P = 1 x 10(-5)), showing that modifier genes independent of CFTR contribute substantia

154 We investigated the extent to which modifier genes influence nutrition in children with CF.

155 Global modifier genes influence the mapping of genotypes onto p

156 and class II modifiers enhance PEV when the modifier gene is present in fewer than two doses.

157 One potential modifier gene is represented by ZPR1, which is down-regu

158 eneous population, the predominant effect of modifier genes is health.

159 y and the role of environmental triggers and modifier genes is still not clear.

160 c genes CTNNB1 and CCND1, and the epigenetic modifier gene KMT2A in androgen-independent PCa.

161 caused primarily by mutations in the histone modifier genes KMT2D and KDM6A.

162 Linkage analysis identified potential modifier-gene loci.

163 Fine-mapping of this mutated modifier gene (M-locus) and the synteny analysis of the

164 This suggests that the MTO1-like modifier gene may influence the phenotypic expression of

165 This suggests that an MSS1-like modifier gene may influence the phenotypic expression of

166 ation of the disease phenotype by background modifier genes may be dependent upon the particular dise

167 w potential therapeutic targets, since these modifier genes may be more amenable to treatment than th

168 therefore expected that some of these prion-modifier genes may be of wider relevance in neurodegener

169 ndicating that environmental triggers and/or modifier genes may contribute to the disease.

170 Identification of these modifier genes may define the biological pathways that l

171 Human homologues of mouse cancer modifier genes may play a role in cancer risk and progno

172 "Psychosis-modifier genes" may act in the setting of neurodegenerat

173 We hypothesized that the modifier genes might be located in regions of allelic im

174 Although currently unidentified modifier genes might explain some of this heterogeneity,

175 Modifier genes might interact to determine the susceptib

176 lh1, the ortholog of a third HD age-at-onset modifier gene (MLH1), which suppresses somatic expansion

177 Modifier-gene models for the evolution of genetic inform

178 Surprisingly, certain modifier genes modify SCA1 and HD models in opposite dir

179 s observation suggests that 129SvEv-specific modifier genes modulate the impact of Slc30a8 deletion.

180 However, it has been proposed that nuclear-modifier genes modulate the phenotypic manifestation of

181 ervations imply that human MTO2 may act as a modifier gene, modulating the phenotypic expression of t

182 complementary analyses such as searches for modifier genes, must be employed.

183 several are downstream targets of epigenetic modifier genes mutated in AML.

184 m rare-disease cohorts that harbor chromatin modifier gene mutations in NSD1, EZH2, and KAT6A where D

185 ore likely to have RB1, NOTCH, and chromatin modifier gene mutations, upregulation of DNA damage resp

186 A major codominant modifier gene of embryo lethality was mapped to proximal

187 srupt either of two sites in the HPD gene (a modifier gene of HT1) in human hepatocytes.

188 conclusion, we identified Gpnmb as a causal modifier gene of lysosome function in this strain pair.

189 Our study reveals Nrf2 as a novel modifier gene of sepsis that determines survival by moun

190 Mon1a was originally identified as a modifier gene of vesicular traffic, as a mutant Mon1a al

191 Recent functional studies of modifier genes of hearing-loss loci have begun to refine

192 aling controls the expression of several key modifier genes of intestinal tumorigenesis and has a cri

193 iate linkage crosses and congenic lines, and modifier genes of large effect can be identified by posi

194 Yor1-DeltaF670 biogenesis identified several modifier genes of mRNA processing and translation, which

195 Recently, 'modifier' genes of the FCHL phenotype, such as the apoli

196 ses did not support the existence of a major modifier gene on chromosome 19 in a region previously li

197 eatitis, and the discovery of a pancreatitis modifier gene on the X chromosome that provides new clue

198 he possible effects of genetic background or modifier genes on PTEN-controlled tumorigenesis using ge

199 In summary, we have mapped two modifier genes on the mouse Chr X that cause high-freque

200 that could be ameliorated or exacerbated by modifier genes or environmental factors in different pop

201 e heterozygotes suggests important roles for modifier genes or environmental factors in RP1-related d

202 phenotypes, which are usually attributed to modifier genes or gene-environment interactions.

203 ain of function by mutant CLC5, an effect of modifier genes, or a secondary result of nonspecific ren

204 ic disorders and highlight the importance of modifier gene pathways as therapeutic targets.

205 nist paradox and identify a potential asthma modifier gene (phospholipase C-beta1), which may also be

206 ns with TSC, the present study suggests that modifier genes play a role in the variable expression of

207 strongly suggest that genetic background or modifier genes play an important role in the phenotypic

208 It is hypothesized that modifier genes play important roles in determining the s

209 s and genetic background, referred to as the modifier genes, play a significant role.

210 tion studies as well as interactions between modifier genes, providing insight into pathways underlyi

211 Twin and sibling analysis indicates that modifier genes, rather than allelic variation in CFTR, a

212 disrupts the SUMO1 (small ubiquitin-related modifier) gene, resulting in haploinsufficiency.

213 Our study was initiated to identify the modifier gene(s) encoded by the Pctm locus, in which mou

214 However, putative nuclear modifier gene(s) has been proposed to regulate the pheno

215 However, putative nuclear modifier gene(s) have been proposed to regulate the phen

216 sn-/- mice and appeared to be dependent on a modifier gene(s) in addition to the loss of gelsolin.

217 oma is linked to chromosome 11, and that the modifier gene(s) responsible for differences in suscepti

218 background suggests the presence of a major modifier gene(s) that influences 4.1G function and is as

219 l evidence has suggested the role of nuclear modifier gene(s), but a genomewide search has indicated

220 f loss of heterozygosity (LOH) and potential modifier gene(s), we investigated the molecular basis of

221 specific enzyme, we distinguish a subset of modifier genes serving as buffers or potentiators of var

222 Our studies suggest that in addition to modifier genes, SNPs may also contribute to the differen

223 livered within the tumor microenvironment by modifier genes, stromal and endothelial cells, and immun

224 after 1985 and recruited into the French CF Modifier Gene Study since 2004.

225 gs from the CF Twin-Sibling Study, French CF Modifier Gene Study, and Canadian Consortium for Genetic

226 the transcriptional regulation of chromatin modifier genes, suggesting robust epigenome regulation o

227 nding cancer samples, including in chromatin modifier genes, supporting their role in early tumourige

228 ese studies define what we believe to be new modifier gene targets for treatment of ALS.

229 s in the gene that causes CF (CFTR) and a CF-modifier gene (TGFbeta1) amplify the negative effects of

230 Nor can we rule out a prostate cancer-modifier gene that confers a lower-than-reported risk.

231 tagenesis screen, we identified Smarca4 as a modifier gene that exacerbates the phenotypic severity o

232 We originally isolated Scnm1 as a disease modifier gene that is required for efficient in vivo spl

233 Overall, rdSNVs were enriched in histone modifier genes that activate transcription (Fisher exact

234 quantitative trait locus approach, we mapped modifier genes that can best explain the underlying phen

235 (logarithm of the odds of linkage >2.0) for modifier genes that cause MI (chromosomes 4q35.1, 8p23.1

236 rare, indicating that the sets of background modifier genes that cause susceptibility to each disease

237 ntified a total of nine additional candidate modifier genes that could influence the organ-specific e

238 This suggests the existence of modifier genes that influence disease progression.

239 C mutations, providing no clear evidence for modifier genes that influence disease severity in this f

240 Modifier genes that influence the penetrance of mutation

241 terious symbionts generate selection on host modifier genes that keep uniparental transmission in pla

242 Additional modifier genes that lie outside the SMA locus exist and

243 WY increased expression of stress modifier genes that maintain the health of the proteome,

244 ul for identification of TGCT susceptibility modifier genes that map to Chr 19 and also for studies o

245 Therefore, identification of modifier genes that might influence ALS survival could i

246 ait locus (QTL) analysis in mice to identify modifier genes that might influence the severity of huma

247 rare damaging de novo mutations in chromatin modifier genes that play essential roles in brain and va

248 to facilitate the identification of germline modifier genes that promote the development of aggressiv

249 The primary and modifier genes that regulate normal maxillofacial develo

250 he data provide evidence for strain-specific modifier genes that support the survival of PWS-IC delet

251 Once the identities of modifier genes that suppress vision or hearing loss beco

252 s often result from the action of so-called "modifier genes" that modulate the phenotypic manifestati

253 n the frequency of white genes, according to modifier gene theory.

254 s and 2304 affected F2 animals localized the modifier gene to a 950-kb interval on mouse chromosome 3

255 o identify and pharmaceutically target BMPR2 modifier genes to improve PAH.

256 ing the 10p13 locus restricted the candidate modifier genes to ITGA8, C10orf97 (CARP) and PTER.

257 revention and management strategies based on modifier genes, to pharmacogenetics, in which individual

258 Here, we identified the nuclear-modifier gene TRMU, which encodes a highly conserved mit

259 9.9%), and unique individual factors (e.g., modifier genes, unique exposures; 6.8%) (likelihood rati

260 the identification of three pistil essential modifier genes unlinked to the S-locus (HT-B, 120K, and

261 We hypothesize that "modifier" genes unlinked to Tsc2 affect its expressivity

262 The protein products of USH2 causative and modifier genes, USH2A, ADGRV1, WHRN and PDZD7, interact

263 One modifier gene was identified and highlights the importan

264 termine if PKD severity can be influenced by modifier genes, we carried out an intercross between DBA

265 high-frequency, low-penetrance breast cancer modifier genes, we have developed a rat genetic model th

266 genes, primarily immune response and immune modifier genes, were typed.

267 In summary, Scnm1 is the first example of a modifier gene which influences disease severity through

268 ity of our patient suggests the influence of modifier genes which exacerbated the testicular phenotyp

269 years have demonstrated how coinheritance of modifier genes, which alter the balance of alpha-like an

270 ions harboring "cryptic" tumor suppressor or modifier genes whose inactivation contributes to tumorig

271 Identification of the modifier genes will complement the results of studies of

272 The identification of these novel modifier genes will serve as strong candidates for the d

273 rk identifies 27-kD gamma-zein as an opaque2 modifier gene within the largest QPM quantitative trait

274 rain tumors 1) was identified as a candidate modifier gene within the SuprMam1 interval because it wa

275 confirmed mutations of one or more chromatin modifier genes within 96% of FL tumors and two or more i