ライフサイエンスコーパス: phenotypic variability

1 e retinal degeneration with a high degree of phenotypic variability.

2 ome extreme disease manifestations and other phenotypic variability.

3 genic and allelic heterogeneity, as well as phenotypic variability.

4 in the FBN1 gene that produces wide disease phenotypic variability.

5 ay influence the resultant pathology and the phenotypic variability.

6 from contrasting genitors providing a large phenotypic variability.

7 plants derived from tissue culture manifest phenotypic variability.

8 Genetically identical cells can show phenotypic variability.

9 extreme genetic heterogeneity and a lack of phenotypic variability.

10 als and investigations of factors that drive phenotypic variability.

11 difiers can interact to uncover and regulate phenotypic variability.

12 ne are likely to be involved in causing this phenotypic variability.

13 carrying RS1 mutations show a broad range of phenotypic variability.

14 digree 2 that accounted for the considerable phenotypic variability.

15 logy, as they often present with unexplained phenotypic variability.

16 tic diversity has been mirrored by a loss in phenotypic variability.

17 amics of genome change and whether it causes phenotypic variability.

18 esult was less apostatic selection and lower phenotypic variability.

19 nce our appreciation of the genetic basis of phenotypic variability.

20 confirming a major role for genetics in PSC phenotypic variability.

21 ss of gene expression may contribute to this phenotypic variability.

22 tbred backgrounds contributing to Egfrtm1Mag phenotypic variability.

23 ds, and leukonychia, which show considerable phenotypic variability.

24 Genetic variants determine phenotypic variability.

25 e that genetics can only explain part of the phenotypic variability.

26 diatric hepatorenal disorder with pronounced phenotypic variability.

27 type of mutation in DYSF cannot explain this phenotypic variability.

28 meobox transgene, kn1, does not produce such phenotypic variability.

29 notype and showed evidence for interfamilial phenotypic variability.

30 egulation may be more important in mediating phenotypic variability.

31 BVMD shows a wide spectrum of phenotypic variability.

32 cells within tumors display a high degree of phenotypic variability.

33 individuals and has the potential to impact phenotypic variability.

34 fy cell types and molecular programs driving phenotypic variability.

35 ng organisms and it determines cell fate and phenotypic variability.

36 enetic backgrounds contributes to additional phenotypic variability.

37 6 that together explained 9 and 28% of total phenotypic variability.

38 e the role of rare coding variation in human phenotypic variability.

39 strains, showing marked background-dependent phenotypic variability.

40 ancing our understanding of disease risk and phenotypic variability.

41 pture full disease complexity and to explain phenotypic variability.

42 ins contribute to epigenetically inheritable phenotypic variability.

43 ivation, which correlates with and may drive phenotypic variability.

44 that contributes to its pathophysiology and phenotypic variability.

45 miRNAs to protect tissue development against phenotypic variability.

46 that the aneuploid state causes non-genetic phenotypic variability.

47 variation that are responsible for heritable phenotypic variability.

48 al pathways involved in AMD, contributing to phenotypic variability.

49 here is high intrafamilial and interfamilial phenotypic variability.

50 seudodominant transmission and the resultant phenotypic variability.

51 ci, but explain only a modest portion of the phenotypic variability.

52 in gene expression is a main determinant of phenotypic variability.

53 /-) to investigate the molecular basis of OI phenotypic variability.

54 between strains often contribute substantial phenotypic variability(5).

55 We determine the degree of molecular and phenotypic variability across 14 stock HeLa samples from

56 Biological sex is a fundamental source of phenotypic variability across species.

57 The phenotypic variability also correlates with colony size

58 This phenotypic variability also occurs between affected memb

59 as a driver of 22q11 rearrangements and the phenotypic variability among 22q11DS patients.

60 ominant trait, with clinical and biochemical phenotypic variability among affected individuals, inclu

61 tal structure provide a model to explain the phenotypic variability among AS patients.

62 With the realization that bacteria display phenotypic variability among cells and exhibit complex s

63 ontributors to sexually dimorphic traits, to phenotypic variability among females heterozygous for X-

64 Bombus terrestris are characterized by wide phenotypic variability among genetically similar full-si

65 These data explain the basis for phenotypic variability among human patients with MTM1 p.

66 researchers to explore the multidimensional phenotypic variability among neurons and to correlate ge

67 firing and provide evidence for inter-animal phenotypic variability among neurons of the same type.

68 However, later studies revealed extensive phenotypic variability among RPGRIP1 mutants.

69 of interpreting and detecting differences in phenotypic variability among the genotypes at a locus, f

70 uch a gene might help to explain some of the phenotypic variability among the human SMAs.

71 n siblings, implying a genetic basis for the phenotypic variability amongst homozygotes.

72 Observed phenotypic variability and co-existing solutions were tr

73 enetic variation in the causal components of phenotypic variability and covariability is described fo

74 he sources, impact and function of molecular phenotypic variability and highlight future directions t

75 adding another mechanism to further explain phenotypic variability and highlighting the importance o

76 iated with mutations in TRNT1, demonstrating phenotypic variability and highlighting the need for oph

77 ermination time as a model system to examine phenotypic variability and its underlying mechanisms.

78 The phenotypic variability and low-level mosaicism, which ch

79 observed in different analyzed embryos with phenotypic variability and map them onto a series of com

80 cation in understanding the genetic basis of phenotypic variability and oligogenic inheritance.

81 r the unusual genetics of this disorder, its phenotypic variability and probably, the progressive nat

82 previous studies allow to conclude that the phenotypic variability and severity of the AIFM1-related

83 xpression differences may be associated with phenotypic variability and suggest that DNA methylation

84 way integrator genes such as FT can underlie phenotypic variability and that this may be achieved thr

85 wever, in the human population, the cause of phenotypic variability and the contribution of genetic m

86 l techniques that allow rigorous analysis of phenotypic variability and thereby may lead to advances

87 cy of mRNA splicing, which may in turn cause phenotypic variability and variable penetrance of mutati

88 The phenotypic variability and wide range of penetrance for

89 regulatory response correlates with both the phenotypic variability and with species differences.

90 efects, suggest mechanisms for intrafamilial phenotypic variability, and account for related cardiac

91 NP codon 129 genotype largely determine this phenotypic variability, and allow a molecular classifica

92 New information on clinical incidence, phenotypic variability, and pathogenesis is becoming ava

93 ty of CLCNKB mutations may contribute to the phenotypic variability, and the genotype-phenotype assoc

94 hy and possible mechanisms for the genotypic/phenotypic variability are reviewed.

95 The beneficial effects of phenotypic variability are strongest when there are subs

96 Phenotypic variability arises, in part, due to the prese

97 These patients demonstrate the wide phenotypic variability associated with deletions of 18q.

98 Our findings emphasize the significant phenotypic variability associated with MCLMR, particular

99 We provide here an explanation for the phenotypic variability associated with mutations in the

100 Because of the well-known phenotypic variability associated with pathogenic CNVs,

101 these characteristics may contribute to the phenotypic variability associated with PrP repeat expans

102 Given the phenotypic variability associated with regulatory gene m

103 The phenotypic variability associated with some of the quant

104 he contribution of the genetic background to phenotypic variability associated with the Crb1(rd8/rd8)

105 the 'Two-hit model' was used to explain the phenotypic variability associated with the latter group

106 s) in this process and to gain insights into phenotypic variability associated with these disorders,

107 framework to quantify genetic effects on the phenotypic variability at both single-variant and vPGS l

108 ty through which genetic variation can drive phenotypic variability between individuals and thereby c

109 found that females exhibit a high degree of phenotypic variability beyond what is observed in human

110 , the mutations found in ODDD not only cause phenotypic variability, but also result in various funct

111 There was significant phenotypic variability, but the presence of skeletal mus

112 relationship between selection pressure and phenotypic variability by analysing structured populatio

113 d retinitis pigmentosa and clinicians alike, phenotypic variability can be challenging because it com

114 iversity, disease onset is unpredictable and phenotypic variability can be considerable.

115 n birth defects are highly variable and this phenotypic variability can be influenced by both the env

116 The expression of phenotypic variability can enhance geometric mean fitnes

117 Phenotypic variability can have a number of sources incl

118 orrelations between external stimulation and phenotypic variability, cell fate, and drug response.

119 This phenotypic variability contributes to virus survival dur

120 including the muscular dystrophies, display phenotypic variability despite the same disease-causing

121 mice have been limited because of potential phenotypic variability due to X chromosome inactivation

122 sociated disease is often characterized by a phenotypic variability even within families carrying the

123 est that genetically inherited propensity to phenotypic variability, even with no change in the mean

124 Although this necessary phenotypic variability exists in diverse maize, most res

125 uals do not have cardiac events, significant phenotypic variability exists within families.

126 The phenotypic variability explained by the QTL ranged betwe

127 Its phenotypic variability extends beyond a continuum of sev

128 bal extracts: misidentification, genetic and phenotypic variability, extract variability and instabil

129 Our data show phenotypic variability for different mutations affecting

130 rogeneity on the intrinsic and the extrinsic phenotypic variability for the well-known two-promoter s

131 or only a small component of the significant phenotypic variability found among patients with severe

132 ions have implications for understanding the phenotypic variability found in human RP3 families that

133 s, whereby natural selection operates on the phenotypic variability generated by the accumulation of

134 The phenotypic variability has been largely argued to be att

135 In single families, this complex genetic and phenotypic variability has confounded the identification

136 , the contribution of individual proteins to phenotypic variability has not been explored in detail.

137 genetic factors affecting organ-specific and phenotypic variability, however, remain to be elaborated

138 Our study reconciles the stress- and phenotypic variability hypotheses by demonstrating how s

139 ated variation in gene expression to achieve phenotypic variability in a controlled manner.

140 onal developmental genes seem to enhance the phenotypic variability in affected families.

141 type, and could be a widespread mechanism of phenotypic variability in animals.

142 -CM technologies have not been addressed: 1) phenotypic variability in apparently identical genotype

143 r gene on the expression and transmission of phenotypic variability in Arabidopsis (Arabidopsis thali

144 c effects that contribute at least 5% to the phenotypic variability in at least five segregating fami

145 Natural selection generally favours phenotypic variability in camouflaged organisms, whereas

146 ented genetic findings in accounting for the phenotypic variability in cardiomyopathy.

147 risk score explains a significant portion of phenotypic variability in carriers of HCM-causing rare v

148 We sought to characterize the phenotypic variability in chronic constipation.

149 strate that genetic diversity contributes to phenotypic variability in circadian rhythms, and high-th

150 tion within the XDP-specific SVA sequence to phenotypic variability in clinical disease manifestation

151 Our aim was to characterize phenotypic variability in constipated patients by anorec

152 Thus, a large degree of phenotypic variability in cortical organization can be a

153 We concluded that well-known phenotypic variability in daily sleep amount and archite

154 relationship between thermal variability and phenotypic variability in developmental rate but body le

155 Our study confirms high phenotypic variability in disease onset and age at which

156 e not sufficient to account for the observed phenotypic variability in drug response.

157 -fate transitions such as EMT as a source of phenotypic variability in drug sensitivity.

158 netic modification, underlie the significant phenotypic variability in each disorder.

159 n order to systematically detect the role of phenotypic variability in enteropathogenic E. coli (EPEC

160 n transcription fidelity, human disease, and phenotypic variability in genetically-identical cells ca

161 tanding the mechanism and functional role of phenotypic variability in germination time.

162 of Blood, Liu et al gain an understanding of phenotypic variability in hemoglobinopathies.

163 Additionally, characterizing the genetic and phenotypic variability in inbred mice has implications f

164 ogenic ROM1 null variants in contributing to phenotypic variability in mutant PRPH2-associated retina

165 anding of the molecular basis of strains and phenotypic variability in naturally occurring diseases,

166 ith coexisting MSA and ALS, highlighting the phenotypic variability in neurologic presentations with

167 d opening new quantitative ways to study the phenotypic variability in normal and diseased cells.

168 fects in these pathways can explain the wide phenotypic variability in overall growth, physical dysmo

169 provide a framework for our understanding of phenotypic variability in patients with del22q11 syndrom

170 There is profound phenotypic variability in patients with XLRS.

171 binuclear syncytia to distinguish noise from phenotypic variability in the analysis of cytokine signa

172 A major mechanism of phenotypic variability in the human gut symbiont Bactero

173 The intra- and inter-familiar OI phenotypic variability in the presence of an identical m

174 nstability in Nexmif mutant mice and causing phenotypic variability in their progeny.

175 In summary, these results demonstrate that phenotypic variability in Twsg1(-/-) mice is associated

176 e bs phenotypes and thus contributing to the phenotypic variability in WARBM mice.

177 The phenotypic variability in WS likely involves epigenetic

178 indica rice panel displayed a wide range of phenotypic variability in yield and quality traits under

179 Current solutions to account for phenotypic variability include littermate and maternal c

180 TVs, milder features were common, suggesting phenotypic variability, including a range of individuals

181 of genetic diversity, yet their influence on phenotypic variability, including disease susceptibility

182 eneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, de

183 ered to be an important determinant of human phenotypic variability, including susceptibility to comp

184 nstrate that epigenomic variability leads to phenotypic variability, including susceptibility to dise

185 Multivariate analysis for phenotypic variability indicated that all phenotypic tra

186 me theory, we show that the incorporation of phenotypic variability into competitive networks dramati

187 Phenotypic variability is a hallmark of diseases involvi

188 nto account phylogenetic relationships, moth phenotypic variability is best explained by anti-predato

189 We show that a significant proportion of the phenotypic variability is determined by genotype in male

190 We show that the increase in phenotypic variability is due to stochastic conversion o

191 nces, provides a basis for understanding how phenotypic variability is generated at all levels of org

192 requently) and also elevated noise strength (phenotypic variability is high).

193 ally complex and the explanation of observed phenotypic variability is likely dependent on the breedi

194 The phenotypic variability is not associated with difference

195 The etiology of this phenotypic variability is not currently known.

196 The mechanism of this phenotypic variability is not understood.

197 This phenotypic variability is partly attributed to genetic m

198 Phenotypic variability is present even when genetic and

199 Significant intra- and interfamilial phenotypic variability is present for either TWIST mutat

200 /pattern dystrophies, but the origin of this phenotypic variability is unclear.

201 gical syndromes, yet the molecular basis for phenotypic variability is unclear.

202 However, the genetic basis for ALGS phenotypic variability is unknown.

203 Although phenotypic variability is well documented, the dynamics

204 Phenotypic variability is well recognized in severe hemo

205 ular dystrophy type 2A can be complex due to phenotypic variability, lack of precision of protein ana

206 Analysis of phenotypic variability led to the identification of a sp

207 nt maternal obesogenic diets (MODEs) display phenotypic variability, likely reflecting the influence

208 ability to be easily propagated and its high phenotypic variability make it an ideal model system for

209 TRPV4 ankyrin repeats, suggesting that this phenotypic variability may be due to differential effect

210 Phenotypic variability may result from a range of causes

211 The intracellular mechanisms that enable phenotypic variability might evolve, but often the pheno

212 To model the phenotypic variability observed among patients, we cross

213 ent to the expression of one allele(3,4), to phenotypic variability observed in families with IEIs.

214 90-deficient mouse model to recapitulate the phenotypic variability observed in patients by mixing ge

215 nal variants have not accounted for the wide phenotypic variability observed in patients with this sy

216 he extensive interfamilial and intrafamilial phenotypic variability observed suggests that modifying

217 Although phenotypic variability occurs, individuals with VCFS hav

218 of the RNA-protein interaction explains the phenotypic variabilities of the disease state.

219 ve genes as well as modifiers explaining the phenotypic variability of ASD conditions.

220 tomy, and test the model predictions for the phenotypic variability of cellular responses.

221 This case report underlines the phenotypic variability of dermatophytic infection in pat

222 rther analyzed separately to account for the phenotypic variability of different disease-causing vari

223 nts, and may have important implications for phenotypic variability of drug resistance in natural set

224 expression changes ultimately relate to the phenotypic variability of DS.

225 trongly suggests that polymorphism-dependent phenotypic variability of familial prion diseases may be

226 hemical reactions and cellular growth on the phenotypic variability of growing, isogenic cells.

227 nesis, but their ability to recapitulate the phenotypic variability of human disease and the complex

228 Interestingly, conditions that increased the phenotypic variability of inbred progeny regularly incre

229 ent of NS can be challenging due to the wide phenotypic variability of its manifestations.

230 Improved diagnosis has revealed the phenotypic variability of leukodystrophies, requiring ad

231 , potentially explaining transcriptional and phenotypic variability of mitochondrial disease.

232 tablished criteria, and describe some of the phenotypic variability of Parkinson's disease at the tim

233 rscoring the weakness of PMP22 to mirror the phenotypic variability of patients with CMT1A.

234 The wide phenotypic variability of prion diseases is thought to d

235 background plays a dominant role in driving phenotypic variability of PSCs.

236 tive cohort study, we describe intrafamilial phenotypic variability of retinal hemangioblastoma (RH)

237 Intrafamilial phenotypic variability of RH exists between family membe

238 organization in the renowned ecological and phenotypic variability of salmonid fishes.

239 tory mechanism may be of direct relevance to phenotypic variability of tauopathies, as the ratios of

240 Marked inter- and intrafamilial phenotypic variability of the disease was observed.

241 Here, we review the genotypic and phenotypic variability of the RBC membrane disorders in

242 out mouse model that recapitulates the brain phenotypic variability of these human ciliopathies, with

243 etween choriocapillaris (CC) dysfunction and phenotypic variability of this disease.

244 nd the mechanisms that govern the pronounced phenotypic variability of this group of disorders remain

245 of the 22q11 deletion and contribute to the phenotypic variability of this syndrome.

246 (-/-) mice exhibit distinct phenotypes; this phenotypic variability of WARBM mice was previously attr

247 In a family with broad phenotypic variability of XMC, we identified the novel C

248 This phenotypic variability on a congenic B6 background has p

249 genetic factors must be producing important phenotypic variability on the background of an identical

250 genetic effects on individual-to-individual phenotypic variability (or intragenotypic variability),

251 r, in simple virilizing CAH, we observe wide phenotypic variability, particularly with the exon 4 I17

252 myeloid tumor-suppressor genes contribute to phenotypic variability, phenotypic shifts, and progressi

253 BrtlIV mice have phenotypic variability ranging from perinatal lethality

254 differences may also play a role, with tumor phenotypic variability reflecting intrinsic differences

255 situ hybridization, we demonstrate that this phenotypic variability reflects enhanced variability in

256 but their origins and the basis of the wide phenotypic variability remain to be elucidated.

257 rse; nevertheless, the genetic basis for SMA phenotypic variability remains unclear, and it has been

258 cently, the pathophysiological basis for the phenotypic variability remains unknown.

259 heir simulated responses statistically match phenotypic variability reported in published clinical tr

260 EA-1 patients exhibit substantial phenotypic variability resulting from at least 14 distin

261 Because of phenotypic variability seen in subsequent studies with T

262 te that family background contributes to the phenotypic variability seen in this and perhaps other CN

263 st cases of asthma, the disease shows marked phenotypic variability, suggesting etiologic heterogenei

264 in 329 DO mice, which displayed far greater phenotypic variability than the founders-80% of founders

265 in a single gene,VHL, but it exhibits a wide phenotypic variability that can be categorized into dist

266 e manipulations, stembryos display intrinsic phenotypic variability that can be leveraged to define t

267 However, the phenotypic variability that can occur with any given pat

268 Isogenic populations of cells exhibit phenotypic variability that has specific physiological c

269 inherited prion disease can show remarkable phenotypic variability that has yet to be explained.

270 t to uncover a hierarchical structure in the phenotypic variability that reflects exploration-exploit

271 le-cell sequencing has clarified genetic and phenotypic variability, the heterogeneity of nongenetic,

272 ging to this species show a wide genetic and phenotypic variability, the possibility to identify the

273 Despite the phenotypic variability, the vast majority of patients ha

274 ss in unpredictable environments by matching phenotypic variability to environmental variability, is

275 microbial cells often show a high degree of phenotypic variability under homogeneous conditions.

276 Although genes obviously contribute to phenotypic variability, variability can also be achieved

277 Furthermore, we showed that phenotypic variability was also associated with natural

278 Intrafamilial phenotypic variability was also observed in a family wit

279 As expected, the phenotypic variability was found to be larger in the lat

280 Phenotypic variability was higher among heterozygous kno

281 Tremendous phenotypic variability was observed in the iPSC-CM model

282 A considerable phenotypic variability was observed, with no clear genot

283 To help understand this unexpected phenotypic variability, we generated a knockin mouse lin

284 It is currently unclear which genes modulate phenotypic variability, what their relationship is to co

285 NCMD has great phenotypic variability, which can be appreciated only by

286 rophies display a considerably wide range of phenotypic variability, which can make diagnosis and cli

287 ular content between cells, termed molecular phenotypic variability, which does not necessarily imply

288 ults link fluctuations in gene expression to phenotypic variability, which is seen in many mutant str

289 derstand better the nature and origin of the phenotypic variability, which provides the substrate for

290 s and experience work in concert to generate phenotypic variability will provide a better understandi

291 These results tie phenotypic variability with expression dynamics of a tra

292 ple with ataxia-telangiectasia (A-T) display phenotypic variability with regard to progression of imm

293 An awareness of this phenotypic variability, with the sampling of multiple bo

294 ludes mechanisms leading to a high degree of phenotypic variability within a genetically homogeneous

295 s in single cells is necessary to understand phenotypic variability within an otherwise isogenic popu

296 rtain key features, but there is significant phenotypic variability within and among kindreds with re

297 These results highlight the phenotypic variability within CMT genotypes and mutation

298 Our observation that phenotypic variability within populations decreases with

299 Single-cell culture reveals phenotypic variability within the early CITED1-expressin

300 tatic interactions have an important role in phenotypic variability, yet the genetic dissection of su