ライフサイエンスコーパス: expressivity

1 ined by a target's general attractiveness or expressivity.

2 /C have both reduced penetrance and variable expressivity.

3 rait exhibiting high penetrance and variable expressivity.

4 DE-cad(ex) result in phenotype with variable expressivity.

5 l dominant traits with sex-specific variable expressivity.

6 "modifier" genes unlinked to Tsc2 affect its expressivity.

7 completely penetrant, but exhibits variable expressivity.

8 atic interactions, sex linkage, and variable expressivity.

9 condition with high penetrance and variable expressivity.

10 t-onset disease with variable penetrance and expressivity.

11 er-IgE syndrome was found, but with variable expressivity.

12 locus autosomal dominant trait with variable expressivity.

13 as an autosomal dominant trait with variable expressivity.

14 pattern with reduced penetrance and variable expressivity.

15 cated by low disease penetrance and variable expressivity.

16 ty is also caused by variable penetrance and expressivity.

17 an autosomal dominant pattern with variable expressivity.

18 typic range and provide evidence of variable expressivity.

19 nant trait and exhibits significant variable expressivity.

20 the disease phenotype and exhibited variable expressivity.

21 ifferent degrees of penetrance, and variable expressivity.

22 ong QT syndrome (LQTS) with early and severe expressivity.

23 red to as incomplete penetrance and variable expressivity.

24 splays XY gonadal sex reversal with variable expressivity.

25 ions, incomplete penetrance, and/or variable expressivity.

26 erized by incomplete penetrance and variable expressivity.

27 ether with neurological symptoms of variable expressivity.

28 mputers, such as qubit connectivity and gate expressivity.

29 a neurodevelopmental disorder with variable expressivity.

30 n and deficits in iron availability modulate expressivity.

31 ate including variants with variable disease expressivity.

32 her and is possibly pathogenic with variable expressivity.

33 ase penetrance was incomplete, with variable expressivity.

34 eal endothelium with variable penetrance and expressivity.

35 ce often with incomplete penetrance/variable expressivity.

36 letal dysplasias that have strongly variable expressivity.

37 rearrangements shows extreme variability in expressivity.

38 t palate-craniofacial disorder with variable expressivity.

39 ilies that displayed variable penetrance and expressivity.

40 as neuropsychiatric disorders with variable expressivity.

41 ubject to incomplete penetrance and variable expressivity.

42 esponsible for the variation in hypertrophic expressivity.

43 RK and the genes downstream of it in disease expressivity.

44 g these mutations exhibit extremely variable expressivities.

45 ide one plausible mechanism for the variable expressivity and environmental sensitivity of genetic di

46 Variable expressivity and incomplete penetrance of the clinical m

47 ver, factors that can increase or reduce the expressivity and penetrance of malformations in pregnanc

48 l heterogeneities determining the phenotypic expressivity and penetrance of the disease and the ease

49 mal-dominant movement disorder with variable expressivity and reduced penetrance characterized by abr

50 S/VCFS, characterized clinically by variable expressivity and reduced penetrance of cardiovascular de

51 e were observed in all patients with varying expressivity and severity, including external ear anomal

52 shed new light on human disease penetrance, expressivity and the sensitivity with which we can detec

53 enotypes, incomplete penetrance and variable expressivity, and are associated with risk for sudden ca

54 utation in BEST1 has variable penetrance and expressivity, and can be uniocular.

55 It shows highly variable expressivity, and diagnosis in mildly affected persons c

56 The reduced penetrance, variable expressivity, and female predominance of PAH suggest tha

57 e of this pronounced heterogeneity, variable expressivity, and incomplete penetrance.

58 onstrate pleiotropy, heterogeneity, variable expressivity, and reduced penetrance.

59 mutation carriers, although complete disease expressivity appears to be age-dependent.

60 eals that incomplete penetrance and variable expressivity are common even on a defined genetic backgr

61 manifestation (penetrance) and presentation (expressivity) are likely to be an outcome of genetic int

62 ature of the epigenome as a regulator of DNA expressivity, are challenging a series of dogmas concern

63 re and decreased attentiveness and emotional expressivity, as well as differences on neurophysiologic

64 icated by incomplete penetrance and variable expressivity, as well as wide variation in von Willebran

65 hat alter gene expression can modify disease expressivity, but none have previously been identified i

66 ght alter Hirschsprung disease penetrance or expressivity by affecting ENS precursor migration.

67 now that the epigenome, which regulates gene expressivity, can be inherited via the germline.

68 dominant, multisystem disorder with variable expressivity, characterized by bile duct paucity and res

69 physiological and behavioral phenotypes with expressivity dependent on the extent of monosomy and the

70 sed individuals remain healthy) and variable expressivity (different infections can be allelic at the

71 exhibits incomplete penetrance and variable expressivity due to interactions among multiple suscepti

72 GREM2 mutations exhibit variable expressivity even within the same families.

73 enotypes show incomplete penetrance and poor expressivity: gain of pigmentation is observed only in a

74 .2-13.3 show reduced penetrance and variable expressivity in a range of neurologic disorders.

75 CF shows variable expressivity in affected individuals, but it typically c

76 rential gametophytic penetrance and variable expressivity in different genetic backgrounds.

77 tions exhibit widely variable penetrance and expressivity in different individuals.

78 ns in known causal genes, the penetrance and expressivity in genotyped families, and the utility of t

79 he heart across species, with a continuum of expressivity in health and disease.

80 We detected variable expressivity in relation to age of onset and a possible

81 tic determinant of deafness, but not cardiac expressivity, in individuals harboring >/=1 KCNQ1 mutati

82 Other features that are more variable in expressivity include dilated cardiomyopathy, hypertrigly

83 Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events

84 ated with significant intrafamilial variable expressivity, including isolated dental anomalies withou

85 alysis of other microdeletions with variable expressivity indicates that this two-hit model might be

86 avioral and neuroanatomical traits; however, expressivity is variable, particularly for neuropsychiat

87 ance, but because of variable penetrance and expressivity, large multigenerational pedigrees tractabl

88 e, which exhibits a very high penetrance and expressivity, may present a phenotypic spectrum that is

89 these genes might contribute to the variable expressivity observed in human families with sodium-chan

90 t consistent with the hypothesis of variable expressivity of a common risk between these disorders, w

91 in a striking increase in the penetrance and expressivity of a DGS-like phenotype compared to heteroz

92 a reveal one mechanism by which the variable expressivity of a disorder such as HPE can be produced t

93 ds and identify the genes that influence the expressivity of a mutation.

94 individual can have a profound effect on the expressivity of a pathogenic mutation.

95 nt and is associated with the penetrance and expressivity of a white forelock phenotype similar to th

96 l factor that can modify both penetrance and expressivity of a wide variety of traits.

97 strain-dependent variation in penetrance and expressivity of aganglionic megacolon analogous to the v

98 Genetic variation affecting the expressivity of an amorphic allele of the homeotic gene

99 Incomplete penetrance and variable expressivity of arrhythmogenic right ventricular dysplas

100 erized by severe speech impairment, variable expressivity of attention deficit hyperactivity disorder

101 Our work shows how to leverage the full expressivity of deep learning models, using multiple hid

102 We show that penetrance and expressivity of different phenotypic features became mor

103 affected tissues and the great variation in expressivity of disease traits across those affected.

104 pendent effects of alleles on penetrance and expressivity of driver mutations in key developmental an

105 Furthermore, we show that variable expressivity of ECG features observed in LQTS2 patients

106 individuals (14 studied) exhibited variable expressivity of embryonal nuclear opacities based on mor

107 background show variation in penetrance and expressivity of enteric aganglionosis that are analogous

108 ht into the molecular basis for the variable expressivity of FVL, mice were generated carrying the ho

109 p between mutations in TBX5 and the variable expressivity of HOS, we screened the coding and noncodin

110 ential role for Cdon in the pathogenesis and expressivity of HPE in humans.

111 contributes to the survival and the variable expressivity of individuals with compound heterozygous C

112 xplanation for the specificity of phenotypic expressivity of loss-of-function alleles at a locus broa

113 a mutation in the T box is predictive of the expressivity of malformations in individuals with HOS.

114 The expressivity of Mendelian diseases can be influenced by

115 g that host-specific differences mediate the expressivity of metabolic disease.

116 study was to investigate the penetrance and expressivity of MSH6 mutations in kindreds ascertained t

117 Variable expressivity of mutant phenotypes in genetically identic

118 me mildly affected relatives showed variable expressivity of PCG in this population.

119 polymorphisms that modify the penetrance and expressivity of perturbed traits.

120 H)) line is unique in modelling the variable expressivity of phenotypes in these two ciliopathies.

121 Affected individuals exhibited variable expressivity of pulverulent opacities in the embryonal n

122 at 10/13 top candidates tested influence the expressivity of Rh1(G69D).

123 Moreover, we found that the expressivity of several mutant edm2 phenotypes exhibits

124 operly folded proteins and modulation of the expressivity of several neurological diseases.

125 for insert A showed variable penetrance and expressivity of silencing.

126 Here we report that the expressivity of the Bmp7 mutant phenotype markedly incre

127 The expressivity of the cot1 phenotype is sensitive to cot1

128 ound that environmental changes modulate the expressivity of the epialleles, and we extended our para

129 Remarkably, variable expressivity of the human phenotype can be recapitulated

130 Here we show that the penetrance and expressivity of the phenotype changes when the null muta

131 The expressivity of the phenotype is likely to be influenced

132 ted elsewhere, also influence penetrance and expressivity of the phenotype.

133 stent with dominant inheritance and variable expressivity of the phenotype.

134 t cause corneal dystrophies can modulate the expressivity of the phenotype.

135 wo mutations that enhance the penetrance and expressivity of the polydactylous phenotype were identif

136 difier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A muta

137 Both the penetrance and the expressivity of the rib and sternal defects are increase

138 Penetrance and expressivity of the rib fusion phenotype is altered in m

139 cally related and perhaps represent variable expressivity of the same condition.

140 In this study we demonstrate that phenotypic expressivity of the scalloped(E3) (sd(E3)) mutation of D

141 The penetrance and expressivity of the Spd/+ genotype are controlled in par

142 The multisystemic nature and variable expressivity of the symptoms are unlikely to be explaine

143 ecular basis for the pathogenesis and varied expressivity of the syndrome.

144 Expressivity of the Ufo1-induced phenotype also improved

145 Furthermore, the poor expressivity of the Uo1 is associated with mosaic methyl

146 his cluster with one other site enhances the expressivity of this haplotype.

147 t of epigenetic regulators, and the variable expressivity of traits.

148 e data indicate that the poor penetrance and expressivity of Ufo1-induced phenotypes is caused by mos

149 Chinese family exhibited high penetrance and expressivity of visual impairment.

150 on of the UAS-miR-shRNAs for aPKClambda, the expressivity of which is controllable by the strength an

151 We have used the varied expressivity of white spotting (hypopigmentation) observ

152 heir morbid genome, pleiotropy, and variable expressivity remains incomplete.

153 he Cstf2t mutant phenotype displays variable expressivity such that spermatozoa show a broad range of

154 ical function of BRCA1 and factors affecting expressivity, such as gene-environment and gene-gene int

155 ncreases Hirschsprung disease penetrance and expressivity, suggesting that some cases of Hirschsprung

156 ly, can show reduced penetrance and variable expressivity that cannot be explained by the nature of t

157 Due to the variable expressivity that characterizes these disorders our repo

158 his family illustrates the wide variation in expressivity that occurs in 3beta-HSD deficiency and und

159 inant transmission with evidence of variable expressivity; the remaining six cases were sporadic.

160 The HSsII element also confers epidermal expressivity to a heterologous promoter in transgenic mi

161 s mapped in a Brazilian family with variable expressivity to either 17q23.1-23.2 or 17q11.1-12 based

162 mals with phenotypes that were comparable in expressivity to the corresponding loss-of-function mutan

163 adherence to codon usage bias as a proxy for expressivity) to utilize less biosynthetically expensive

164 how that mutations in P2RY5 display variable expressivity, underlying both hypotrichosis and woolly h

165 hindlimb, preaxial polydactyly with variable expressivity was seen in all cases.

166 sis for this reduced penetrance and variable expressivity, we used exon microarrays to analyze gene e

167 art rate, skin conductance level, and facial expressivity were also measured.

168 The disorder varies greatly in expressivity; while some patients are mildly affected wi

169 tics is enriched by assessing penetrance and expressivity with allelic series.

170 ed an explanation for the variable phenotype expressivity within a family.

171 c interactions that determine penetrance and expressivity within a genetically predisposed family.

172 pedigree 2, both of which varied markedly in expressivity within and across families.