ライフサイエンスコーパス: penetrance

1 trong predisposition (albeit with incomplete penetrance).

2 stoma resembling the human disease with 100% penetrance.

3 set metastatic prostate cancer with complete penetrance.

4 arterial hypertension (PAH) with incomplete penetrance.

5 well as pervasive pleiotropy and incomplete penetrance.

6 In this model, melanoma develops with 100% penetrance.

7 GSOC, although with longer latency and lower penetrance.

8 prevalence, mode of inheritance, or clinical penetrance.

9 human ANNUBP and progress to MPNST with high penetrance.

10 eritable myocardial disease with age-related penetrance.

11 hylation may be a second hit contributing to penetrance.

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

13 d tumors to initiate earlier and have higher penetrance.

14 arly-onset developmental disorders with high penetrance.

15 sulted in early-onset diabetes with complete penetrance.

16 n the mouse gastrointestinal tract with 100% penetrance.

17 y the nonmutated chromosome modulate disease penetrance.

18 TIRAP deficiency, accounting for incomplete penetrance.

19 developmental syndromes with highly variable penetrance.

20 e and severe neurological deficits with 100% penetrance.

21 neity, variable expressivity, and incomplete penetrance.

22 ading to the observed increase in phenotypic penetrance.

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

24 in vivo, although Tpo contributes to disease penetrance.

25 erized by variable expression and incomplete penetrance.

26 imately is associated with differing disease penetrance.

27 t, unaffected carrier status, and incomplete penetrance.

28 riants affecting gene expression and disease penetrance.

29 y, tissue damage, and pancreatitis with full penetrance.

30 ted by ineffective blood-brain barrier (BBB) penetrance.

31 ce recapitulated features of CAKUT with high penetrance.

32 en biased in favour of pedigrees with higher penetrance.

33 cysts are actually familial with incomplete penetrance.

34 null mutants develop cleft palate with 100% penetrance.

35 disposes to pineoblastoma, albeit with lower penetrance.

36 exhibited increased lethality of incomplete penetrance.

37 abases and found 71 with evidence of reduced penetrance.

38 set of seizures, rapid progression, and 100% penetrance.

39 sease (HD) is a monogenic disorder with 100% penetrance.

40 lop age-dependent spontaneous PAH with a low penetrance (16%-27%), similar to that in humans.

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

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

43 Incomplete clinical penetrance (70%) and age-dependent severity of NFKB1-rel

44 3 co-deletion (median age of onset 275 days, penetrance 82% at 1 year), with cell culture studies ind

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

46 articularly frequent in persons with reduced penetrance alleles who manifest with HD and increases th

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

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

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

50 early-onset, lending further credence to the penetrance and causative effect of the identified varian

51 cell-specific response genes, redefining the penetrance and cellular specificity of smoking effects o

52 of mondoa showed perturbed epiboly with low penetrance and compensatory changes in the expression of

53 vidence of human safety, blood-brain barrier penetrance and demonstrable efficacy in at least one ani

54 We assessed their penetrance and effect on obesity (body mass index [BMI]

55 olour/pigmentation loci are zero, incomplete penetrance and epistasis are a better explanation for th

56 pattern of inheritance, cases of incomplete penetrance and evidence of genetic heterogeneity support

57 1 mice) develop spontaneous HCC with partial penetrance and exhibit more highly aggressive HCC induce

58 n the Nodal and Hedgehog (HH) pathways, with penetrance and expressivity graded by genetic and enviro

59 on the heart may also influence the variable penetrance and expressivity of DCM-associated genetic va

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

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

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

63 e 59 mutations, only 11 had moderate-to-high penetrance and increased the odds of obesity by more tha

64 NPs) accelerated tumorigenesis and increased penetrance and infiltrative disease.

65 tosomal dominant inheritance with incomplete penetrance and male predominance.

66 We assessed the penetrance and pathogenicity of these high-quality varia

67 tribution of common variants to the variable penetrance and phenotypic complexity that are observed i

68 rom four health care systems to evaluate the penetrance and pleiotropy of genetic risk for schizophre

69 exity of genomic results, including variable penetrance and possible preventive interventions, the re

70 Thus, differing penetrance and selective effects on the transcriptome ca

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

72 Similar mechanisms may explain the variable penetrance and tissue specificity of other mtDNA mutatio

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

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

75 Incomplete penetrance and variable expressivity suggest a contribut

76 Inherited mutations showed incomplete penetrance and variable expressivity, with mutation carr

77 c phenomena including pleiotropy, incomplete penetrance and variable expressivity.

78 uplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity.

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

80 nisms that allow haploinsufficiency, reduced penetrance, and dosage compensation.

81 3 key aspects: mode of inheritance, clinical penetrance, and genetic heterogeneity of the condition.

82 c inactivation, zygosity-dependent phenotype penetrance, and sensitivity to PARP inhibition were obse

83 l for broad efficacy, convenience and tissue penetrance, and thus often offer important advantages ov

84 icted impairment in GIPC binding exhibit low penetrance angiogenesis deficits and antiangiogenic drug

85 chanisms involved in genetically predisposed penetrance are not well understood.

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

87 te and strand with single-base resolution at penetrance as low as one strand per thousand.

88 ants or dominant inheritance with incomplete penetrance as the reason for their hearing loss.

89 Estimated HCM penetrance at 15 years of follow-up was 46% (95% confide

90 y between lines targeting DA neurons, and in penetrance between lines targeting 5HT neurons.

91 ariants that cause CRC with high or moderate penetrance, but these account for only 5% to 10% of CRC

92 d Pyk2 develop spontaneous colitis with 100% penetrance by 4 weeks of age.

93 Describing penetrance by age among C9orf72 carriers and identifying

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

95 Germline mutations in TP53 cause a rare high penetrance cancer syndrome, Li-Fraumeni syndrome (LFS).

96 omal vancomycin with optimized intracellular penetrance capacity) reduced kidney infection and mortal

97 itor use in the early setting or in moderate-penetrance carriers.

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

99 2, PALB2); 10 patients had mutations in low-penetrance CRC genes (3, APC c.3920T>A, p.I1307K; 7, mon

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

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

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

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

104 k factors for disease, to both low- and high-penetrance disease.

105 ionally, the potential mechanisms of reduced penetrance due to dosage compensation are discussed as a

106 ls too often demonstrate variable phenotypic penetrance due to the mosaic nature of editing outcomes

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

108 a UKB trait, and we were able to refine the penetrance estimate for some of the variants.

109 ion in our population, consistent with a low penetrance estimate.

110 age-related expression, and highly variable penetrance even within individual families carrying the

111 is a recurrent copy number variant with high penetrance for developmental neuropsychiatric disorders.

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

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

114 identified rare risk genotype with very high penetrance for schizophrenia.

115 sion of lymphoid progenitor cells and a high penetrance formation of chromosomal instable, pauci-clon

116 ay result in false estimates of rare variant penetrance from population biobanks.

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

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

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

120 st common P/LP variants in high- or moderate-penetrance genes were BRCA2 (n = 9; 1.5%), MSH2 (n = 8;

121 women with mutations in BRCA1/2 or moderate-penetrance genes who are eligible for mastectomy, nipple

122 e of genetic heterogeneity of Mendelian high-penetrance genes.

123 is a common mechanism by which high- and low-penetrance genetic factors increase thyroid cancer risk.

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

125 by investigating the pathophysiology of high-penetrance genetic risk factors.

126 Common, low-penetrance genetic risk variants can be combined into po

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

128 Because PREMM(5) identifies non-LS, high-penetrance germline PVs, patients with CRC and/or EC wit

129 belly spots) and simple syndactyly with high penetrance (>95%), and 24% of mutant embryos developed e

130 edullary thyroid cancer (FNMTC), whereas low-penetrance hereditary thyroid cancer manifests as sporad

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

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

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

134 ently present in myeloid cells but varied in penetrance in B and T cells; (2) colony-forming units (C

135 s, ADAM17 and LRBA, with high dominant model penetrance in BioMe.

136 y-onset IBD (VEO-IBD), by estimating genetic penetrance in each BioMe population.

137 in ankyloglossia and cleft palate with 100% penetrance in embryos examined after embryonic day 14.5.

138 of the repeat expansion act with incomplete penetrance in families with a high prevalence of amyotro

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

140 3 inclusions (FTD-TDP) and to modify disease penetrance in progranulin mutation carriers (FTD-GRN).

141 omic insertion/deletion mutations with 99.5% penetrance in sorted cells for all three loci.

142 These findings suggest that variance in CTD penetrance in the 22q11.2DS population can be explained

143 lowing maximization of CRISPR/Cas9 phenotype penetrance in the F(0) generation.

144 pecially supernumerary sepals, at incomplete penetrance in the first-formed flowers.

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

146 hat variant interpretation challenges or low penetrance in these genes.

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

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

149 f Parkinson disease (PD), display incomplete penetrance, indicating the importance of other genetic a

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

151 This raises the question whether the penetrance is indeed 100% as generally assumed.

152 imes or severe immune suppression, and tumor penetrance is low.

153 k factor for Parkinson disease, although the penetrance is low.

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

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

156 ild defect in p53 function, and leads to low penetrance LFS.

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

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

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

160 ts emphasize the importance of heritable low-penetrance markers in PTC.

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

162 he general population in the United Kingdom, penetrance may have been somewhat underestimated.

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

164 a single family but no other candidate high-penetrance melanoma susceptibility genes.

165 us protein truncating variants cause reduced penetrance MODY.

166 lization of-and interplay between-novel high-penetrance monogenic variants and common variants (at th

167 Known high-penetrance mutations account for only about half of all

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

169 for cutaneous melanoma range from rare, high-penetrance mutations to common, low-penetrance variants.

170 anoma to compare families without known high-penetrance mutations with unrelated melanoma cases and m

171 le predisposing factors, including rare high-penetrance mutations, as well as via a combination of la

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

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

174 ous vancomycin chosen for its low intestinal penetrance (n = 12), and (3) caloric restriction (n = 8)

175 The question of penetrance needs further evaluation.

176 notype-phenotype correlations and incomplete penetrance observed in WD.

177 ase prevalence estimates yields an estimated penetrance of 6.0%.

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

179 We have previously characterized the robust penetrance of a heterotopia in a rat model, induced by t

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

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

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

183 t cardiac findings highlighted age-dependent penetrance of ARVC.

184 iguing aspect of this report is the complete penetrance of B-1 progenitor leukemia by Bcor mutation,

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

186 that similar mechanisms may also affect the penetrance of cancer driver mutations in humans.

187 Furthermore, we characterize the penetrance of cancer in carriers of pathogenic BRCA1 and

188 enotype-phenotype correlations regarding the penetrance of cardiac involvement, and age of onset have

189 molecular subgroups, indicating an increased penetrance of CDKN2A risk alleles in children with DS.

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

191 - and actin-binding protein - induces a high penetrance of CP, not observed when Afdn is targeted lat

192 mere syndrome that is associated with a high penetrance of cutaneous melanoma and chronic lymphocytic

193 ed by the compound inheritance model, a high penetrance of CVM phenotype was only observed in the mic

194 These data establish the low penetrance of D4Z4 alleles with 9-10 repeats.

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

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

197 equally on both parental haplotypes, and the penetrance of detectable mosaic pathogenic variants over

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

199 mine whether polygenic background can modify penetrance of disease in tier 1 genomic conditions - fam

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

201 eteroplasmy correlates with the severity and penetrance of disease, improvement in the ratio between

202 We estimated penetrance of DVs using large-scale online genomic popul

203 and treatment of phaeochromocytoma, and the penetrance of extra-endocrine features.

204 and imaging communities because of the deep penetrance of far-red light into mammalian tissue and th

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

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

207 The penetrance of genotype is however variable and influence

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

209 To date, the brain tissue penetrance of intranasal oxytocin has not been demonstra

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

211 UK Biobank to investigate the prevalence and penetrance of large autosomal CNVs and chromosomal aneup

212 nt biochemical defects contributed to higher penetrance of LHON in these families carrying both mtDNA

213 G>A or m.14484T>C mutation, exhibited higher penetrance of LHON than those in families carrying singl

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

215 However, the true penetrance of many of these rare alleles is uncertain an

216 ther Ednra or Bmp4 significantly reduced the penetrance of maxillary malformation in both Six1 (-/-)

217 ly involved, as loss of either induces a low penetrance of mild palate closure defects, while loss of

218 into the causes of embryo loss and variable penetrance of monogenic CHD, and raises the possibility

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 e biomarkers correlates with or predicts the penetrance of mutations and lifespan after heat shock.

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

223 le to inhibit let-7 processing increases the penetrance of MYCN-induced neuroblastoma, potentiates th

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

225 oxia could explain variable expressivity and penetrance of observed CHD in families carrying Notch pa

226 Here, we assess the penetrance of previously reported MC4R mutations at a po

227 ean ancestry to assess the pathogenicity and penetrance of putatively clinically important rare varia

228 omotes resistance to disease by reducing the penetrance of risk loci, wherein resilience and risk loc

229 els measured in human plasma exacerbates the penetrance of RYR1 MH susceptibility mutations triggered

230 e of transoral instillation led to a greater penetrance of silicosis in the genetically heterogeneous

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

232 ioning of vitellogenin lipoprotein, reducing penetrance of starvation-induced abnormalities in progen

233 autoantibodies and earlier onset and higher penetrance of T1D.

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

235 Our findings demonstrate a higher penetrance of the CDKN2A risk locus in DS and serve as a

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

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

238 2 (+/-) mice exhibit significantly increased penetrance of the maxillary malformation.

239 Incomplete penetrance of the mutation and variable degrees of emphy

240 on in unselected glaucoma cases and modifies penetrance of the MYOC variant encoding p.Gln368Ter, the

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

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

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

244 The penetrance of the variant rs74315329 was estimated from

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

246 l albostrians allele conferring an imperfect penetrance of the variegated phenotype even at homozygou

247 es provide insight into the pathogenesis and penetrance of these devastating human diseases.

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

249 By measuring the penetrance of this phenotype in each mutant line, we det

250 The penetrance of this variant was evaluated using IOP measu

251 s robustness to imperfect homing, incomplete penetrance of toxins and transgene fitness costs, each o

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

253 Genetic predisposition affects the penetrance of tumor-initiating mutations, such as APC mu

254 al evidence to clarify the pathogenicity and penetrance of variants deemed pathogenic or likely patho

255 -fertilization reprogramming, yet incomplete penetrance of ZFP57 mutations in humans and mice suggest

256 Extremely low penetrances of LHON were observed in 26 pedigrees carryi

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

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

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

260 xhibit non-Mendelian inheritance, incomplete penetrance or variable expressivity.

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

262 or hormonal factor that is influencing these penetrance patterns.

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

264 tize factors contributing to low to moderate penetrance predisposition to BE/EAC.

265 SI/IHC at identifying patients with any high-penetrance PVs and any low-, moderate-, and high-penetra

266 individuals with germline PVs (LS PVs, high-penetrance PVs, and any PVs) who had abnormal MSI/IHC te

267 C and oncology clinic CRC patients with high-penetrance PVs, respectively.

268 trance PVs and any low-, moderate-, and high-penetrance PVs.

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

270 e heritability explained by known common low penetrance risk alleles for EOC.

271 ites, Chinese HCM patients commonly have low penetrance risk alleles in TNNT2 or TNNI3 but exhibit fe

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

273 t transcript expression between high and low penetrance strains.

274 Incomplete penetrance, suggesting genetic or environmental modifier

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

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

277 mutant NECTIN1(W185X) causes CP with greater penetrance than Nectin1 loss, suggesting this alteration

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

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

280 re TTN(LOF) variants confer a substantial AF penetrance, the additive effect of many common variants

281 mutant mice exhibit cleft palate at complete penetrance, the Has2(f/f); Wnt1-Cre fetuses showed drama

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

283 icting annotations in ClinVar and are of low penetrance (TNNI3:p.R79C, 0.7%; TNNT2:p.R286H, 2.7%) but

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

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

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

287 Finally, we estimated expected penetrance using Bayesian inference.

288 oid cancer is due to rare, moderate- to high-penetrance variants rather than to common low-penetrance

289 re, high-penetrance mutations to common, low-penetrance variants.

290 enetrance variants rather than to common low-penetrance variants.

291 ailed to identify 6 (26%) patients with high-penetrance variants.

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

293 The penetrance was 66% (53/80) and age-dependent.

294 zygotes and compound heterozygotes, clinical penetrance was 97.1% and 26 of 34 (76.5%) individuals ha

295 Phenotypic penetrance was complete in all mutation carriers, althou

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

297 inst caspase 2 or control solutions of known penetrance were applied to the corneal epithelial surfac

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

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

300 ow-grade serous ovarian carcinomas with 100% penetrance within 18 weeks.