ライフサイエンスコーパス: phenotypic variability

1 ins contribute to epigenetically inheritable phenotypic variability.

2 that contributes to its pathophysiology and phenotypic variability.

3 Genetically identical cells can show phenotypic variability.

4 extreme genetic heterogeneity and a lack of phenotypic variability.

5 als and investigations of factors that drive phenotypic variability.

6 miRNAs to protect tissue development against phenotypic variability.

7 difiers can interact to uncover and regulate phenotypic variability.

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

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

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

11 digree 2 that accounted for the considerable phenotypic variability.

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

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

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

15 esult was less apostatic selection and lower phenotypic variability.

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

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

18 tbred backgrounds contributing to Egfrtm1Mag phenotypic variability.

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

20 Genetic variants determine phenotypic variability.

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

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

23 variation that are responsible for heritable phenotypic variability.

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

25 notype and showed evidence for interfamilial phenotypic variability.

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

27 here is high intrafamilial and interfamilial phenotypic variability.

28 seudodominant transmission and the resultant phenotypic variability.

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

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

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

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

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

34 ome extreme disease manifestations and other phenotypic variability.

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

36 ay influence the resultant pathology and the phenotypic variability.

37 from contrasting genitors providing a large phenotypic variability.

38 plants derived from tissue culture manifest phenotypic variability.

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

40 The phenotypic variability also correlates with colony size

41 This phenotypic variability also occurs between affected memb

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

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

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

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

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

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

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

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

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

51 Observed phenotypic variability and co-existing solutions were tr

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

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

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

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

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

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

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

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

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

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

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

63 The phenotypic variability and wide range of penetrance for

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

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

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

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

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

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

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

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

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

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

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

75 Given the phenotypic variability associated with regulatory gene m

76 The phenotypic variability associated with some of the quant

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

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

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

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

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

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

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

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

85 The expression of phenotypic variability can enhance geometric mean fitnes

86 Phenotypic variability can have a number of sources incl

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

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

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

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

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

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

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

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

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

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

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

98 The phenotypic variability has been largely argued to be att

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

121 There is profound phenotypic variability in patients with XLRS.

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

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

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

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

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

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

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

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

130 Phenotypic variability is a hallmark of diseases involvi

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

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

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

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

135 The phenotypic variability is not associated with difference

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

137 The mechanism of this phenotypic variability is not understood.

138 This phenotypic variability is partly attributed to genetic m

139 Phenotypic variability is present even when genetic and

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

141 Phenotypic variability is well recognized in severe hemo

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

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

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

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

146 Phenotypic variability may result from a range of causes

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

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

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

150 Although phenotypic variability occurs, individuals with VCFS hav

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

176 BrtlIV mice have phenotypic variability ranging from perinatal lethality

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

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

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

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

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

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

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

184 Because of phenotypic variability seen in subsequent studies with T

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

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

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

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

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

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

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

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

193 Intrafamilial phenotypic variability was also observed in a family wit

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

195 Phenotypic variability was higher among heterozygous kno

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

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

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

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

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

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

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

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

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

205 Our observation that phenotypic variability within populations decreases with

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

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