ライフサイエンスコーパス: penetrance

1 of mutation carriers develop PAH (incomplete penetrance).

2 in vivo, although Tpo contributes to disease penetrance.

3 erized by variable expression and incomplete penetrance.

4 on, may account for some of the variation in penetrance.

5 r de novo mutations (DNMs) and/or incomplete penetrance.

6 ility that directly affects LRRK2 Gly2019Ser penetrance.

7 genetic instability or metastases with high penetrance.

8 ta from 1,170 individuals were used to model penetrance.

9 as autosomal-dominant traits with incomplete penetrance.

10 al environmental changes that modify allelic penetrance.

11 vironmental exposures in relation to disease penetrance.

12 d tumors to initiate earlier and have higher penetrance.

13 g despite having reached an adequate age for penetrance.

14 mation as early as 2 months of age with high penetrance.

15 d up to 1 Mb from the origin with no loss of penetrance.

16 d for lung adenocarcinoma with high familial penetrance.

17 e induced severe eye abnormalities with high penetrance.

18 NS-UHL/AHL as a dominant trait with reduced penetrance.

19 in, leading to perinatal mortality with full penetrance.

20 hich in aggregate can dramatically influence penetrance.

21 exhibit dominant inheritance, but incomplete penetrance.

22 ebral disc development, although with higher penetrance.

23 s well as melanoma formation with incomplete penetrance.

24 itance is autosomal dominant with incomplete penetrance.

25 ngth irradiation, which displays poor tissue penetrance.

26 n model induces rapid MM development of high penetrance.

27 arly-onset developmental disorders with high penetrance.

28 NVs and correlate this against their overall penetrance.

29 g access, toxicity, adherence, and reservoir penetrance.

30 7 unaffected family members, indicating low penetrance.

31 asis of these frequencies, we estimate their penetrance.

32 d causes seminal vesicle obstruction at high penetrance.

33 of bone tumors, including OS, with complete penetrance.

34 urodegenerative diseases exhibit age-related penetrance.

35 ound cardiac malformations, with low disease penetrance.

36 sulted in early-onset diabetes with complete penetrance.

37 n the mouse gastrointestinal tract with 100% penetrance.

38 family displaying porencephaly with reduced penetrance.

39 Ralpha+) mammary adenocarcinomas with an 80% penetrance.

40 autosomal dominant inheritance and complete penetrance.

41 non-Mendelian and characterized by variable penetrance.

42 ade astrocytomas with short latency and 100% penetrance.

43 hylation may be a second hit contributing to penetrance.

44 y the nonmutated chromosome modulate disease penetrance.

45 TIRAP deficiency, accounting for incomplete penetrance.

46 e and severe neurological deficits with 100% penetrance.

47 neity, variable expressivity, and incomplete penetrance.

48 ading to the observed increase in phenotypic penetrance.

49 gnaling (Ad/N1ICD) develop LPS with complete penetrance.

50 a development (median age of onset 308 days, penetrance 40% at 1 year).

51 (p = 4.19 x 10(-13); odds ratio = 35.8) and penetrance (65.9%) of this genetic subtype with respect

52 3 co-deletion (median age of onset 275 days, penetrance 82% at 1 year), with cell culture studies ind

53 anes and Caco-2 cell monolayers in vitro and penetrance across the blood-brain barrier in vivo sugges

54 line alleles induced earlier tumors than low-penetrance alleles (P = 0.03).

55 Both double-mutant models developed high-penetrance AML, although latency was significantly longe

56 However, variable penetrance among patients with the same gene mutations s

57 d by gene mutations yielding nearly complete penetrance and a distinct age of symptom onset, allows i

58 ), under a recessive disease model with 100% penetrance and a risk allele frequency of 5%.

59 is a heterogeneous disorder with incomplete penetrance and caused by mutations in PRKCSH, SEC63, PKD

60 in this setting, including poor tissue/tumor penetrance and detrimental Fc-effector functions that de

61 1 mice) develop spontaneous HCC with partial penetrance and exhibit more highly aggressive HCC induce

62 c polymorphisms variants that may affect HCM penetrance and expression have been predicted but are no

63 porphyria mutations exhibit widely variable penetrance and expressivity in different individuals.

64 f background-dependent effects of alleles on penetrance and expressivity of driver mutations in key d

65 Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular.

66 results in adult-onset disease with variable penetrance and expressivity.

67 Peculiar features of LHON are incomplete penetrance and gender bias, with a marked male prevalenc

68 te that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characte

69 The approach is robust to incomplete penetrance and locus heterogeneity and is applicable to

70 of epithelial tumors, demonstrating that the penetrance and malignancy of a tumor may be dramatically

71 work provides novel insights into incomplete penetrance and oligogenic effects underlying CHDs.

72 ncrease risk of SCZ although with incomplete penetrance and pleiotropic effects.

73 Very few studies have measured disease penetrance and prognostic factors of Chagas cardiomyopat

74 enesis resulted in a significantly increased penetrance and reduced latency of leukemia, with a shift

75 he SNCA locus duplication influences disease penetrance and severity and whether extraduplication fac

76 Traits have generation-dependent penetrance and sex specificity resulting in pleiotropy.

77 ed endometrioid endometrial tumors with 100% penetrance and short host survival.

78 cent, satellite cells induces ERMS with high penetrance and short latency.

79 progenitor B cell subpopulations, increasing penetrance and shortening leukemia latency.

80 dominant fashion with age-related incomplete penetrance and some affected individuals were isolated c

81 +/-) mice develop pituitary tumors with full penetrance and the tumors are invariably Rb1(-/-), model

82 nsufficiency significantly decreases disease penetrance and tumor growth rate in a MYCN-driven transg

83 ctedly, our analysis reveals that incomplete penetrance and variable expressivity are common even on

84 Incomplete penetrance and variable expressivity of arrhythmogenic r

85 variability, often referred to as incomplete penetrance and variable expressivity.

86 leeding disorder characterized by incomplete penetrance and variable expressivity.

87 to multiple susceptibility variants with low penetrance and variable phenotypes.

88 ilipino pedigree (LOD score = 7.5 at reduced penetrance) and lies within a founder haplotype that is

89 ultigenic disorders, clinical manifestation (penetrance) and presentation (expressivity) are likely t

90 cal structure, protease resistance, cellular penetrance, and biological activity upon successful inco

91 tion at S473 on Akt, delaying tumor latency, penetrance, and burden.

92 al dominant immunodeficiencies with variable penetrance, and de novo mutations in disorders with a se

93 3 key aspects: mode of inheritance, clinical penetrance, and genetic heterogeneity of the condition.

94 p.Leu424Val and POLD1 p.Ser478Asn, have high penetrance, and POLD1 mutation was also associated with

95 use models with regard to disease phenotype, penetrance, and severity.

96 autosomal dominant transmission with reduced penetrance, and some familial cases have unknown genetic

97 often show pleiotropy, different degrees of penetrance, and variable expressivity.

98 o causation by de novo mutations, incomplete penetrance, and/or variable expressivity.

99 imately 15% of patients with IPAH, their low penetrance ( approximately 20%) suggests that other unid

100 land have two phenotypes exhibited with 100% penetrance: arrest of mammary alveolar/lobular developme

101 We suggest incomplete penetrance as a mechanism through which new molecular sw

102 Interestingly, incomplete penetrance as low as 10% had little effect on power due

103 unt would be dependent on individual disease penetrance as well as the dietary intervention.

104 neages developed tumors with nearly complete penetrance, as anticipated.

105 Mutations within the high penetrance BRCA1/BRCA2 genes account for approximately 2

106 with variable clinical features and reduced penetrance but the reasons underlying this variability a

107 Describing penetrance by age among C9orf72 carriers and identifying

108 in desmosomal genes and to evaluate disease penetrance by cosegregation analysis in family members.

109 To uncover further genes with high-penetrance causative mutations, we performed exome seque

110 Rare, high-penetrance coding variants and common, low-penetrance no

111 later onset, milder phenotypes, and reduced penetrance compared to classical APS-1.

112 auses lethality in adult mice with different penetrance compared with haploinsufficiency.

113 Strong selection, recombination and penetrance confer high power to recover known antimicrob

114 orphisms, but CNVs of low frequency and high penetrance could still play a role.

115 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, mon

116 ast 1 gene mutation: 9 had mutations in high-penetrance CRC genes (5, APC; 1, APC/PMS2; 2, biallelic

117 hirty-eight (3.6%) participants had moderate-penetrance CRC risk gene mutations (19 monoallelic MUTYH

118 mutations within genes of high and moderate penetrance: CTNNA1, BRCA2, STK11, SDHB, PRSS1, ATM, MSR1

119 This study evaluates changes in genetic penetrance-defined as the association between an additiv

120 Additionally, familial and sporadic penetrance did not significantly differ from one another

121 dition to varying degrees of selectivity and penetrance, distinct Cre lines likely permit targeting o

122 el compounds, designed to have limited brain penetrance, elicited potent in vitro CB1R antagonist act

123 were obtained with log-rank tests, and each penetrance estimate was given separately with 95% confid

124 enome-scale sequencing should be informed by penetrance estimates of HH in unselected samples.

125 t promise to shed new light on human disease penetrance, expressivity and the sensitivity with which

126 Their penetrance for any neurodevelopmental disorder is high,

127 SCZ or DD/ASD/CM, or estimates of the total penetrance for any of these disorders have not yet been

128 s eIF4A, and PDCD4 knockout mice have a high penetrance for B-cell lymphomas.

129 Penetrance for breast cancer, ovarian cancer, or both in

130 persistent expression with sufficiently high penetrance for characterizing the activity of the promot

131 These data suggest that the mechanisms of penetrance for ciliopathies in the OE extend beyond that

132 They also indicate that incomplete penetrance for Mendelian diseases is likely more common

133 pper bound of the 95% confidence interval of penetrance for R415Q can be estimated at 2.2% for women

134 f sunburns was proportional to the degree of penetrance for red hair of alleles of MC1R.

135 Thus, our study suggests a much lower penetrance for rs74315329 for ocular hypertension (and t

136 ars to be the causal genetic lesion with 70% penetrance for schizophrenia, major depression and other

137 Their penetrance for SCZ has been estimated to be modest.

138 However, comparisons between their penetrance for SCZ or DD/ASD/CM, or estimates of the tot

139 The phenotypic variability and wide range of penetrance for these variants present societal challenge

140 , including 23 (2.2%) with mutations in high-penetrance genes (five APC, three biallelic MUTYH, 11 BR

141 patients had mutations in high- or moderate-penetrance genes not traditionally associated with CRC (

142 es, in individuals without mutations in high-penetrance genes previously associated with CRC.

143 cient tumor suppressor gene, defining a high-penetrance genetic mechanism for PP2A inhibition in huma

144 which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribut

145 ein we describe a new disease caused by high-penetrance heterozygous germline mutations in TNFAIP3, w

146 ast to dominant MYH6 mutations with variable penetrance identified in other congenital heart defects

147 e of onset and a possible case of incomplete penetrance in 3 of 6 families (50%), with more than 1 af

148 of enhancer activity in single cells: their penetrance in a population and their contribution to exp

149 n-sense ETV6 variant (p.Arg359X) with a high penetrance in an index family.

150 thal viral challenge and exhibited increased penetrance in autoimmune models, including a combinatori

151 lies a class of human diseases with variable penetrance in different organ systems.

152 bm38 deficiency markedly decreases the tumor penetrance in mice heterozygous for p53 via enhanced p53

153 were found to have MBAITs, suggesting a high penetrance in patients who have undergone TBSE.

154 Penetrance in the largest subset, SDHA carriers, was 39%

155 s that significantly increased thyroid tumor penetrance in Tpo-Cre/homozygous FR-Hras(G12V) mice.

156 d loss-of-function mutations with incomplete penetrance in two patients.

157 -CA mice typically do not develop B-ALL (<2% penetrance); in contrast, 89% of Stat5b-CA mice in which

158 variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associate

159 Disease penetrance is 100% by 3 months of age, with 94% of mice

160 in unaffected mothers, indicating that their penetrance is incomplete.

161 Our results suggest that moderate incomplete penetrance is not an obstacle in this gene-based burden

162 However, disease penetrance is only 20-30%, suggesting a requirement for

163 Autosomal dominance with incomplete penetrance is the most likely mode of inheritance.

164 11, CDKN2A and mismatch-repair genes and low-penetrance loci are associated with increased risk.

165 n 2q24 (implicating NR4A2) and another lower-penetrance locus involving inherited deletions and dupli

166 tions nonetheless showed striking incomplete penetrance (<60%).

167 in mouse B cells or melanocytes caused high-penetrance lymphoma or melanoma, respectively.

168 riants are associated with MODY with reduced penetrance.Maturity-onset diabetes of the young (MODY) i

169 The main high-penetrance melanoma susceptibility gene is CDKN2A, encod

170 kely to reveal similar examples of rare, low-penetrance MODY mutations.

171 us protein truncating variants cause reduced penetrance MODY.

172 use human genotypes often display incomplete penetrance (most genetically predisposed individuals rem

173 be predisposed to meiotic expansion to full-penetrance mutant alleles.

174 terogeneity model, carriers of specific high-penetrance mutations form distinct subgroups.

175 Both inherited high-penetrance mutations in BRCA2, ATM, PALB2, BRCA1, STK11,

176 ome, multigene panel testing identified high-penetrance mutations in cancer predisposition genes, man

177 delines, including 65 with moderate- to high-penetrance mutations.

178 bility, including 149 with moderate- to high-penetrance mutations; 101 patients tested (9.7%; 95% CI,

179 h-penetrance coding variants and common, low-penetrance non-coding variants in 13 genes are known to

180 dings are that FAS mutations have a clinical penetrance of <60%, elevated serum vitamin B12 is a reli

181 ped B-cell malignancy by age 15-18 mo with a penetrance of 60%.

182 L/L) mice, which develop glioblastoma with a penetrance of 92% and a median survival time of 105 d.

183 TP53 R337H mutation in Parana state and the penetrance of ACTs among carriers.

184 Given the long latency and incomplete penetrance of AD dementia with respect to Abeta patholog

185 r relapsed after cure, suggesting incomplete penetrance of AGMO deficiency.

186 y exert protective or deleterious effects on penetrance of AOPTD.

187 ricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature

188 nd severe aneurysmal degeneration, with 100% penetrance of ascending thoracic aortas, whereas TGFBR2

189 In families with these mutations, the penetrance of autoimmunity is incomplete, suggesting tha

190 Successful penetrance of B. burgdorferi out of the vasculature and

191 nce pattern and emphasize the variability of penetrance of both BAV and thoracic aortic aneurysm as w

192 vascular disease similar to FMD and variable penetrance of brachydactyly, syndactyly, bone fragility,

193 e inherited mutations demonstrate incomplete penetrance of clinical phenotypes affecting the lung, bl

194 The penetrance of CNVs correlates strongly with their select

195 The penetrance of CNVs is at least several times higher for

196 s according to their type of inheritance and penetrance of colorectal cancer.

197 (mtDNA) sequence variation can influence the penetrance of complex diseases and climatic adaptation.

198 We demonstrate CSF penetrance of d5, exogenous OT delivered by IN and IV ad

199 both identify disease loci and consider the penetrance of damaging alleles.

200 RFX6 heterozygotes have reduced penetrance of diabetes compared to common HNF1A and HNF4

201 ic ablation of T-BET increased the onset and penetrance of disease, abrogating the sex bias normally

202 a and colleagues presented data on the tumor penetrance of doxorubicin (DOX) when co-administered wit

203 examine how segregating variants modify the penetrance of embryonic lethality.

204 ovides a basis for understanding the reduced penetrance of FSHD within families.

205 xpression from the D4Z4 repeat and increased penetrance of FSHD.

206 onmental conditions that together affect the penetrance of genetic influences.

207 The penetrance of genotype is however variable and influence

208 ssue could be involved as a modulator of the penetrance of HFE hemochromatosis since fat mass is asso

209 to estimate the diagnostic rate and clinical penetrance of HH in 98 individuals homozygous for the va

210 itional studies are required to quantify the penetrance of identified mutations and determine clinica

211 o study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TM

212 and form a quantitative signature of reduced penetrance of inherited liability to autism spectrum dis

213 Mendelian inheritance pattern with complete penetrance of intestinal inflammation.

214 lele exhibited longer survival with only 20% penetrance of invasive tumors and no apparent lung or li

215 HH diagnosis than in prior studies, the high penetrance of iron overload, and the frequency of at-ris

216 crystallin had no significant effects on the penetrance of lens defects, suggesting that its chaperon

217 can increase or reduce the expressivity and penetrance of malformations in pregnancies in women with

218 ic effects of asbestos and suggest that high penetrance of mesothelioma requires such environmental e

219 The molecular basis of the incomplete penetrance of monogenic disorders is unclear.

220 onstrate the accelerated onset and increased penetrance of MPNST formation in fish overexpressing bot

221 linical presentation within families and low penetrance of mutations as well as the significance of p

222 We assumed age-dependent penetrance of mutations in a so far unknown gene causing

223 , leading to a reduced latency and increased penetrance of neuroblastomagenesis.

224 > A mutations exhibited significantly higher penetrance of optic neuropathy than those carrying only

225 creening in healthy individuals, explore the penetrance of pathogenic variants through extensive phen

226 /-); Wnt9b(+/-) mutants exhibit an increased penetrance of renal defect, indicating that they functio

227 tility of population studies to estimate the penetrance of reportedly pathogenic mutations.

228 intramuscular injection of HGF increases the penetrance of sarcoma formation at the site of injection

229 The overall penetrance of SCZ-associated CNVs for developing any dis

230 common risk variant near BMP2 increased the penetrance of SMAD6 mutations and was overtransmitted to

231 In particular, penetrance of SNCA duplications was comparable to point

232 This could help explain the reduced penetrance of some aspects of disease pathology in women

233 n native mammalian cilia and may explain the penetrance of specific ciliopathy phenotypes in olfactor

234 autoantibodies and earlier onset and higher penetrance of T1D.

235 inst house dust mites with a nearly complete penetrance of the allergen, which presents a unique oppo

236 on of mef2ca mutant transcripts modifies the penetrance of the fate switch.

237 e-expressing; there are indications that the penetrance of the gene is about 90%.

238 and adaptive immune function have incomplete penetrance of the IBD-like phenotype.

239 Penetrance of the imaging phenotype was 100% compared wi

240 s in the mutant lines of both genes, and the penetrance of the lens phenotype was higher in alphaBa t

241 lation was observed between the severity and penetrance of the phenotype and the level of destabiliza

242 n between the oligomer concentration and the penetrance of the phenotype was demonstrated.

243 The genetic penetrance of the porphyrias is clinically variable, und

244 In our study, the observed penetrance of the variant rs74315329 in relation to incr

245 The penetrance of the variant rs74315329 was estimated from

246 For this study, the penetrance of the variant rs74315329 was estimated in 2

247 ly spore gene spoIIG, thereby increasing the penetrance of the ylbF, ymcA and yaaT sporulation phenot

248 However, the estimated disease penetrance of these mutations varies widely.

249 riginal study reported that it increased the penetrance of this cancer drug.

250 The penetrance of this variant was evaluated using IOP measu

251 ably, this is shown to be due not to partial penetrance of treatment, but a profound yet hidden alter

252 l-specific aspects that modulate the disease penetrance of tRNA-based pathologies.

253 ently emerged related to the selectivity and penetrance of viral targeting of VTA neurons using sever

254 s categorized as high penetrance or moderate penetrance on the basis of published estimates of the li

255 s, locus heterogeneity, mode of inheritance, penetrance) on power in gene-based burden tests in the c

256 p.R114W has reduced penetrance; only 54% of heterozygotes developed diabetes

257 truncated genes may be rescued by incomplete penetrance or compensatory mutations, or because the tru

258 Each gene was categorized as high penetrance or moderate penetrance on the basis of publis

259 h autosomal dominant inheritance, incomplete penetrance, or mutations in noncoding regions.

260 ile height and BMI show increasing genotypic penetrance over the course of 20(th) Century, education

261 or hormonal factor that is influencing these penetrance patterns.

262 high power across studies of monogenic, high-penetrance phenotypes in a single pedigree to highly pol

263 WAS) have identified over 40 independent low penetrance polymorphic variants.

264 ast, under a polygenic threshold model, high-penetrance rare allele carriers possess many risk factor

265 genome sequencing, are often caused by high-penetrance rare variants.

266 clinical subtype of HNF4A MODY with reduced penetrance, reduced sensitivity to sulfonylurea treatmen

267 addition of genes with low colorectal cancer penetrance resulted in an incremental cost-effectiveness

268 ant strains selectively bred to high and low penetrance revealed differential mef2ca mutant transcrip

269 ng protein, is associated with high familial penetrance, risk of progressive heart failure and sudden

270 Based on their high penetrance, short latency, and histologic fidelity, thes

271 t transcript expression between high and low penetrance strains.

272 Here we set out to identify new high-penetrance susceptibility genes by sequencing 184 melano

273 iscounts the existence of further major high-penetrance susceptibility genes, which individually acco

274 may provide important insights into new low-penetrance susceptibility regions involved in the suscep

275 Knowledge of the contribution of high-penetrance susceptibility to familial colorectal cancer

276 e pathogenic mutations have an age-dependent penetrance that could be ameliorated or exacerbated by m

277 One such SNV, KALRN-P2255T, displays a penetrance that greatly exceeds that of previously ident

278 of hepatocellular carcinoma (HCC) with high penetrance that is accompanied by progressive changes in

279 orrelation between the clinical phenotype or penetrance, the type of genetic defect or the category o

280 the major molecular cause of this incomplete penetrance through three cardinal features: (1) there is

281 Meanwhile, we find genotypic penetrance to be historically stable with respect to dep

282 se strain that develops serous EOC with 100% penetrance to introduce the mutant Trp53(R172H) allele (

283 SOs primarily target fat and liver with poor penetrance to other organs.

284 consistent, early formation of SCC with high penetrance to the role of NM II in maintaining mitotic s

285 ght be useful for identifying potent but low-penetrance tumor suppressors.

286 The reduced penetrance, variable expressivity, and female predominan

287 zygous animals had perinatal lethality whose penetrance varied with genetic background.

288 Penetrance was >97% in carriers older than 40 years.

289 A distinct disease penetrance was apparent, with ~ 70% of Gal-1(-/-) mice d

290 Phenotypic penetrance was complete in all mutation carriers, althou

291 Penetrance was derived from 75 mutation-positive familie

292 Clinical penetrance was incomplete (eight adults of a total of 19

293 Our analysis showed that the penetrance was incomplete and age-dependent.

294 arded as a passive barrier impeding allergen penetrance, we now realize that they recognize allergens

295 n dysfunction are considered as a group, the penetrance will approach 100%.

296 The improved estimates of penetrance will provide crucial information for genetic

297 ward increasing disease severity and disease penetrance with increasing duplication size.

298 ons may predict carrier and familial disease penetrance with potentially broad implications for clini

299 ociated with mild forms of HCM and a reduced penetrance, with few affected in the families to confirm

300 This mutation is known to have incomplete penetrance, with some patients developing disease in the