ライフサイエンスコーパス: expressivity

1 eiotropy, incomplete penetrance and variable expressivity.

2 lopmental disorder characterized by variable expressivity.

3 22q11.2) has reduced penetrance and variable expressivity.

4 rearrangements shows extreme variability in expressivity.

5 t palate-craniofacial disorder with variable expressivity.

6 ilies that displayed variable penetrance and expressivity.

7 ubject to incomplete penetrance and variable expressivity.

8 heritance, incomplete penetrance or variable expressivity.

9 esponsible for the variation in hypertrophic expressivity.

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

11 /C have both reduced penetrance and variable expressivity.

12 rait exhibiting high penetrance and variable expressivity.

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

14 l dominant traits with sex-specific variable expressivity.

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

16 completely penetrant, but exhibits variable expressivity.

17 atic interactions, sex linkage, and variable expressivity.

18 condition with high penetrance and variable expressivity.

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

20 locus autosomal dominant trait with variable expressivity.

21 as an autosomal dominant trait with variable expressivity.

22 pattern with reduced penetrance and variable expressivity.

23 cated by low disease penetrance and variable expressivity.

24 ty is also caused by variable penetrance and expressivity.

25 typic range and provide evidence of variable expressivity.

26 nant trait and exhibits significant variable expressivity.

27 lian trait segregation pattern with variable expressivity.

28 ociated with reduced penetrance and variable expressivity.

29 ls, a disease characteristic termed variable expressivity.

30 s a maculopathy with variable penetrance and expressivity.

31 mics that link motor parameters with musical expressivity.

32 adism, and additional features with variable expressivity.

33 ders with incomplete penetrance and variable expressivity.

34 re with complex traits that display variable expressivity.

35 thy (ARVC) yet display varied penetrance and expressivity.

36 l HCM and factors influencing penetrance and expressivity.

37 s well as incomplete penetrance and variable expressivity.

38 ity, Shannon entropy, Simpson diversity, and expressivity.

39 rved heat shock proteins can shape phenotype expressivity.

40 mputers, such as qubit connectivity and gate expressivity.

41 as neuropsychiatric disorders with variable expressivity.

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

43 t-onset disease with variable penetrance and expressivity.

44 an autosomal dominant pattern with variable expressivity.

45 the disease phenotype and exhibited variable expressivity.

46 ifferent degrees of penetrance, and variable expressivity.

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

48 red to as incomplete penetrance and variable expressivity.

49 splays XY gonadal sex reversal with variable expressivity.

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

51 erized by incomplete penetrance and variable expressivity.

52 ether with neurological symptoms of variable expressivity.

53 a neurodevelopmental disorder with variable expressivity.

54 n and deficits in iron availability modulate expressivity.

55 ate including variants with variable disease expressivity.

56 her and is possibly pathogenic with variable expressivity.

57 ase penetrance was incomplete, with variable expressivity.

58 eal endothelium with variable penetrance and expressivity.

59 ce often with incomplete penetrance/variable expressivity.

60 letal dysplasias that have strongly variable expressivity.

61 g these mutations exhibit extremely variable expressivities.

62 Consistent with quantile-dependent expressivity, 11 drug studies report smaller genotype di

63 ature was observed in a family with variable expressivity, a de novo variant near the PHD domain, var

64 e way how technical difficulty and emotional expressivity affect musicians during playing has surpris

65 rited vascular disorder with highly variable expressivity, affecting up to 1 in 5,000 individuals.

66 alogous to how increasing depth enhances the expressivity and classification ability of neural networ

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

68 Variable expressivity and incomplete penetrance of the clinical m

69 s in a single gene can present with variable expressivity and incomplete penetrance.

70 of the modified gene; thus the origin of the expressivity and patterns of PEV remain unexplained.

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

72 sults such as hypoxia could explain variable expressivity and penetrance of observed CHD in families

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

74 cial and cardiac malformations with variable expressivity and penetrance.

75 cess could give rise to the heterogeneity of expressivity and phenotypes seen in human cases of CCD.

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

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

78 lational modifiers and biomarkers of disease expressivity and severity at a given time point.

79 niofacial developmental disorder of variable expressivity and severity with a recognizable set of abn

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

81 her oxytocin-a neuropeptide that can enhance expressivity and social perception-influences time-lagge

82 contrast, LME models revealed no effects of expressivity and technical difficulty on any of the phys

83 timulus, participants rated it for emotional expressivity and technical difficulty.

84 results in T-cell lymphopenia with variable expressivity and that FOXI3 may be a key modulator of th

85 arked by clinical heterogeneity and variable expressivity and that is generally characterized by the

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

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

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

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

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

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

92 of this study unveil the spectrum, clinical expressivity, and prevalence of germ line predisposition

93 Their phenotypes displayed variable expressivity, and ranged from rod-cone to cone-rod dystr

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

95 ders have incomplete penetrance and variable expressivity, and we hypothesize that polygenic factors

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

97 Incomplete penetrance and variable expressivity are characteristic of IDAIL caused by CTLA-

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

99 g with paralysis, but naturalistic speed and expressivity are elusive(1).

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

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

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

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

104 Effect (LME) models suggested that emotional expressivity attributed to music affected the fluidity o

105 QTLs) underlying the difference in phenotype expressivity between the two isolates.

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

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

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

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

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

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

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

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

114 ated with incomplete penetrance and variable expressivity even within the same family and may have do

115 RP and the motivation and pleasure (MAP) and expressivity (EXP) dimensions of the Brief Negative Symp

116 pth-which model neural networks with tunable expressivity-fail to solve certain problems solvable by

117 ated with incomplete penetrance and variable expressivity for a breath of phenotypes, including neuro

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

119 Hedgehog (HH) pathways, with penetrance and expressivity graded by genetic and environmental modifie

120 erns with incomplete penetrance and variable expressivity, (ii) rarity of single-gene drivers such th

121 .2-13.3 show reduced penetrance and variable expressivity in a range of neurologic disorders.

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

123 l maintaining extensibility, flexibility and expressivity in an increasingly decentralised genomic da

124 lete genetic penetrance and ample phenotypic expressivity in CVID suggest the participation of additi

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

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

127 ndings to reveal an association with disease expressivity in females (Biomarkers of Systemic Treatmen

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

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

130 enotypes with highly variable penetrance and expressivity in individuals with DS.

131 NF management is the variability of clinical expressivity in NF1, resulting in intrapatient and inter

132 ximum entropy approach that provides greater expressivity in regions of sequence space where data are

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

134 ertion acts as a genetic modifier of disease expressivity in XDP.

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

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

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

138 butable to triglyceride's quantile-dependent expressivity, including gene-adiposity (APOA5, APOB, APO

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

140 using genes is challenging owing to variable expressivity, incomplete penetrance and variable genotyp

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

142 Facial expressivity indices were extracted using automated Faci

143 ypes are consistent across cell lines, their expressivity is influenced by the individual genomic con

144 Cantil expressivity is repressed by the specific heterotrimeric

145 A(vy) expressivity is sensitive to a range of early-life chemi

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

147 "Quantile-dependent expressivity" is a dependence of genetic effects on whet

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

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

150 cy, generative capability and representation expressivity metrics.

151 Male gender expressivity (MGE), which reflects prevalent sociocultur

152 The clinical manifestations and expressivity might be variable due to unknown secondary

153 ve symptoms, negative symptoms of diminished expressivity, negative symptoms of motivation and pleasu

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

155 "Quantile-dependent expressivity" occurs when the effect size of a genetic v

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

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

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

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

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

161 both rare and common variants can modify the expressivity of a phenotype, which may then influence wh

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

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

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

165 s of tissues and thus regulates the onset or expressivity of aging phenotypes.

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

167 Incomplete penetrance and variable expressivity of arrhythmogenic right ventricular dysplas

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

169 ctly inhibits SMO reduces the penetrance and expressivity of birth defects in Mosmo-/- embryos.

170 c heterogeneities contribute to the variable expressivity of COL4A1 and COL4A2 mutations.

171 es as a modifier gene in CTLA-4h, increasing expressivity of CTLA4 variants and acting in functional

172 ces that can lead to concentration including expressivity of data embedding, global measurements, ent

173 odifier variant contributing to the variable expressivity of DCM, warranting further exploration of i

174 y also influence the variable penetrance and expressivity of DCM-associated genetic variants in vivo.

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

176 Koopman Autoencoders (KAEs) harness the expressivity of deep neural networks (DNNs), the dimensi

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

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

179 Variable expressivity of disease-associated variants implies a ro

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

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

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

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

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

185 sing alleles, influencing the penetrance and expressivity of gain-of-function phenotypes.

186 We examined the prevalence, penetrance, and expressivity of GoF CASR variants in the UK Biobank (UKB

187 modulate the reduced penetrance and variable expressivity of heritable dilated cardiomyopathy (DCM) a

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

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

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

191 isms were consistent with quantile-dependent expressivity of leptin concentrations.

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

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

194 The expressivity of Mendelian diseases can be influenced by

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

196 riptotype' in analyses of the penetrance and expressivity of monogenic disorders.

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

198 ia (0.17-0.48), indicating variable clinical expressivity of mutant clones.

199 Variable expressivity of mutant phenotypes in genetically identic

200 gs unveil marked variability in the clinical expressivity of myeloid driver genes and underline the l

201 The expressivity of neural networks allows representing rapi

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

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

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

205 nes cause incomplete penetrance and variable expressivity of phenotypes, which are usually attributed

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

207 que opportunity to assess the penetrance and expressivity of rare and/or known pathogenic mitochondri

208 lex traits frequently contribute to variable expressivity of RGDs and that PGSs may be a useful metri

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

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

211 subphenotypes, with characteristic variable expressivity of several mutant genes.

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

213 n this work we investigate the time at which expressivity of silencing is set, and find that it is de

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

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

216 The expressivity of the cot1 phenotype is sensitive to cot1

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

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

219 This variable expressivity of the identified mutation c.555G > A in C8

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

221 The expressivity of the phenotype is likely to be influenced

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

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

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

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

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

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

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

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

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

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

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

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

234 Expressivity of the Ufo1-induced phenotype also improved

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

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

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

238 expression, limiting both the penetrance and expressivity of transgenes.

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

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

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

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

243 profound consequences for the penetrance and expressivity of X-linked traits in humans.

244 e of this hexanucleotide repeat in modifying expressivity of XDP.

245 parameter space that naturally improves the "expressivity" of self-assembly, much like a deeper neura

246 ture has investigated the effects of musical expressivity on the listeners, the way how technical dif

247 ose to oculomotor instability, with variable expressivity possibly responsible for the discordance ob

248 ty dynamics have limited temporal memory and expressivity, relying on Markov or linearity assumptions

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

250 ced five-times each with different emotional expressivities, so that the same movement trajectories w

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

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

253 Incomplete penetrance and variable expressivity suggest a contribution of additional geneti

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

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

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

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

258 Consistent with quantile-dependent expressivity, the beta(FS) was greater in female sibs, w

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

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

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

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

263 a 'joy bias'; a tendency to attribute joyful expressivity to the movements, in accordance with the jo

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

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

266 Facial expressivity varied considerably across participants, bu

267 dy 2, we replicated the findings that facial expressivity was associated with agreeableness and likin

268 Male gender expressivity was quantified in adolescence and younger a

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

270 e than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more comm

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

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

273 cate NTDs in mice, where both penetrance and expressivity were exacerbated by maternal folate deficie

274 MYH7 can be considered as a modifier of HCM expressivity when found in combination with truncating v

275 Variable expressivity, whereby the same CNVs are associated with

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

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

278 ns showed incomplete penetrance and variable expressivity, with mutation carriers often exhibiting cu

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

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

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