ライフサイエンスコーパス: inherited

1 cation and the mechanisms by which it can be inherited.

2 erentiation, either stochastic or maternally inherited.

3 ed, exhibiting large effects when paternally inherited.

4 ns-acting variants are most often dominantly inherited.

5 n response to emotion is learned rather than inherited.

6 Maternally inherited 15q11-13 chromosomal triplications cause a fre

7 rdation, and hypotonia, and we identified an inherited 2 bp deletion causing a frameshift in BRPF1 (c

8 Genetically inherited absence epilepsy in humans is typically charac

9 kills, beliefs, and practices that have been inherited, accumulated, and modified over generations.

10 methylated regions in the genome are stably inherited across each generation indicating that spontan

11 Early humans inherited activating KIR2DS4 and an inhibitory lineage I

12 99 to generate Abeta, leading to recessively inherited AD.

13 structure during mitosis, is asymmetrically inherited after mitosis, and relocates to the recently f

14 upported by the identification of dominantly inherited alpha-syn (SNCA) gene mutations in rare cases

15 Indeed, treatment of a rat model of inherited ALS (caused by a mutation in Sod1) with ASOs a

16 t DNA methylation being conserved and stably inherited, alterations likely due to hybridization and d

17 es with ADAD participating in the Dominantly Inherited Alzheimer Network (DIAN) study including 120 p

18 ar (CV) disease, CAHAP remain susceptible to inherited and acquired CV disease, and may be most at ri

19 ABSTRACT: Female sex is a risk factor for inherited and acquired long-QT associated torsade de poi

20 ischarge was applied in the settings of both inherited and acquired long-QT syndrome.

21 tion that induces arrhythmia in females with inherited and acquired long-QT.

22 Inherited and acquired mtDNA mutations have recently bee

23 In recent years, inherited and acquired mutations in the tricarboxylic ac

24 step toward the understanding of the role of inherited and acquired variation in disease.

25 Usher syndrome is an inherited and irreversible disease that manifests as ret

26 h can be explained by genomic variants, both inherited and somatic.

27 perexcitability, a prominent feature of both inherited and sporadic variants of the disease, but the

28 Object manufacture in insects is typically inherited, and believed to be highly stereotyped.

29 beta-Thalassemia is one of the most common inherited anemias, with no effective cure for most patie

30 high doses, and (iii) neither phenotypic nor inherited antibiotic resistance generated during therapy

31 The engineering of mouse models of inherited aortopathies has identified potential therapeu

32 These yaks inherited approximately 1.3% of their genome from bovine

33 ng arrhythmia evaluation were collected from inherited arrhythmia clinics and the Rochester long-QT s

34 generation sequencing panel incorporated 38 inherited arrhythmia syndrome candidate genes and anothe

35 xplained cardiac arrest may be because of an inherited arrhythmia syndrome.

36 of relatives identifies a high proportion of inherited arrhythmia syndrome.

37 Inherited arrhythmia syndromes are responsible for a sig

38 ted, and arrhythmogenic cardiomyopathies and inherited arrhythmias.

39 tive patients presented data consistent with inherited arrhythmogenic cardiomyopathy/dysplasia phenot

40 ES mutations were described in patients with inherited arrhythmogenic right ventricular cardiomyopath

41 somally integrated HHV-6 (ciHHV-6), which is inherited as a genetic trait.

42 ze for published ASD genes and uncover novel inherited ASD susceptibility genes specific to the Leban

43 Wolbachia are intracellular maternally inherited bacteria that can spread through insect popula

44 d is usually thought to be incompatible with inherited behaviour.

45 Willebrand disease (VWD) is the most common inherited bleeding disorder, yet diagnosis and managemen

46 asvir/grazoprevir (EBR/GZR) in patients with inherited bleeding disorders and HCV infection.

47 ial exudative vitreoretinopathy (FEVR) is an inherited blinding disorder characterized by the abnorma

48 ominant retinitis pigmentosa (RP), a type of inherited blindness caused by the dysfunction and death

49 ot been studied exclusively in patients with inherited blood disorders and hepatitis C virus (HCV) in

50 found mutations in genes seldom reported in inherited BMF (IBMF), such as SAMD9 and SAMD9L (N = 16 o

51 mond syndrome (SDS) (OMIM #260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is p

52 Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by

53 en and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain

54 ndividual cone receptive fields, a signature inherited by downstream neurons and implicated in color

55 DNA methylation is stably inherited by offspring and spontaneous epialleles are ra

56 or merely reflecting transcriptional states inherited by other means.

57 missense variant c.625C>T (p.Arg209Trp) was inherited by two affected siblings from their healthy mo

58 Fanconi anemia (FA) is an inherited cancer predisposition syndrome characterized b

59 ng for mutations in 25 genes associated with inherited cancer risk.

60 t have a cancer family history to suggest an inherited cancer syndrome.

61 ygous rare variants in genes associated with inherited cardiomyopathies were significantly enriched i

62 etic testing is a valuable tool for managing inherited cardiovascular disease in patients and familie

63 nical practice requires (1) recognizing when inherited cardiovascular disease may be present, (2) ide

64 s of the FMR1 gene, is the most common known inherited cause of developmental disability.

65 Although FXS is the most prevalent inherited cause of intellectual disability, its mechanis

66 is a co-stimulatory molecule of T cells, and inherited CD27 deficiency is characterized by high susce

67 and EBV-associated diseases, reminiscent of inherited CD27 deficiency.

68 The epidemiology and clinical effect of inherited chromosomally integrated HHV-6 (iciHHV-6) in h

69 Inherited ciHHV-6 status did not significantly affect ri

70 wn to co-segregate with autosomal dominantly inherited coloboma.

71 ngs of neuroblastoma, demonstrating that the inherited common variants reported contribute to the ori

72 ous Albinism (OCA) is an autosomal recessive inherited condition that affects the pigmentation of eye

73 Targeted next-generation sequencing in inherited congenital cataract patients provided signific

74 l cortex specialization is driven largely by inherited connectivity constraints that do not require s

75 RC risk to identify variants associated with inherited CRC.

76 owever, in this study we show that Mendelian inherited CTNNB1 mutations can cause non-syndromic FEVR

77 unt for 25-50% of DCM cases and up to 25% of inherited DCM has been attributed to truncating mutation

78 (aHUS) is a disorder most commonly caused by inherited defects of the alternative pathway of compleme

79 DA) is a neurodegenerative disease caused by inherited deficiency of the mitochondrial protein Fratax

80 CE STATEMENT Retinitis pigmentosa (RP) is an inherited, degenerative retinal disease that leads to bl

81 KDMs as additional candidates for dominantly inherited developmental disorders.

82 ancestral charophycean alga from which they inherited developmental, biochemical, and cell biologica

83 o episodic ataxia type 2 (EA2), a dominantly inherited disease characterized by paroxysmal attacks of

84 o acid decarboxylase (AADC) deficiency is an inherited disease that causes depletion of neurotransmit

85 r pathways in fibroblasts from subjects with inherited disease.

86 Copper is an essential biometal, and several inherited diseases are directly associated with a disrup

87 Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increa

88 Inherited diseases caused by unstable repeated DNA seque

89 The primary immunodeficiencies (PIDs), rare inherited diseases characterized by severe dysfunction o

90 enesis imperfecta' (AI) describes a group of inherited diseases of dental enamel that have major clin

91 The inherited diseases typically manifest with immunodeficie

92 ing human noncoding variants associated with inherited diseases.

93 been implicated in a broad spectrum of human inherited diseases.

94 Galloway-Mowat syndrome (GMS) is an inherited disorder characterized by microcephaly and nep

95 sinophilia (FE) is a rare autosomal dominant inherited disorder characterized by the presence of life

96 osis, a clinically heterogeneous, dominantly inherited disorder of erythrocyte dehydration.

97 rythropoietic protoporphyria (EPP) is a rare inherited disorder of the heme biosynthesis pathway resu

98 ic Kidney Disease (ADPKD) is the most common inherited disorder of the kidneys.

99 Inherited disorders of oxidative phosphorylation cause t

100 Amelogenesis imperfecta (AI) is group of inherited disorders resulting in enamel pathologies.

101 a common pathogenesis, between two groups of inherited disorders, autosomal dominant polycystic kidne

102 acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in

103 diovascular disease, cancer progression, and inherited disorders.

104 ion of patients with a clinical diagnosis of inherited distal renal tubular acidosis has no identifie

105 Paternally inherited Dp/+ (patDp/+) mice showed expected increases

106 rapeutic strategies such as for treatment of inherited early childhood neurodegenerative diseases.

107 The importance of transgenerationally inherited epigenetic states to organismal fitness remain

108 tain their own DNA, known as mtDNA, which is inherited exclusively from the mother.

109 th disease progression, interactions between inherited factors and phenotype driver mutations, and ef

110 rial cell shape is a genetically encoded and inherited feature that is optimized for efficient growth

111 associated with motor neuron toxicity in an inherited form of amyotrophic lateral sclerosis (ALS).

112 nome-editing approach to target a dominantly inherited form of genetic deafness.

113 ALE: Duchenne muscular dystrophy is a severe inherited form of muscular dystrophy caused by mutations

114 as come from the identification and study of inherited forms of early-onset AD and genetic risk facto

115 Inherited forms of FSGS are caused by Rac1-activating mu

116 r understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably i

117 the C9orf72 gene is the most common cause of inherited forms of the neurodegenerative disease amyotro

118 P begins as soon as childhood, with frequent inherited forms.

119 each, supportive of a single mutation event inherited from a common ancestor.

120 vealed de novo CNVs in 11 (47.8%), with CNVs inherited from a parent in 4 probands (17.4%).

121 efers to a haplotype segment of a chromosome inherited from a shared common ancestor.

122 the arc-like signature in Archaean TTGs was inherited from an ancestral source lineage.

123 gested that the multidomain architecture was inherited from bacterial ancestors, probably simultaneou

124 is saliency representation is unlikely to be inherited from fronto-parietal cortices, which do not pr

125 nosheets exhibit strong mechanical stability inherited from graphene oxide, displaying minimal struct

126 biogeochemical background corresponding to P inherited from natural soils at the conversion to agricu

127 Mitochondrial DNA (mtDNA) is typically inherited from only one parent [1-3].

128 est when identical-by-descent haplotypes are inherited from parents.

129 These morphologies are inferred to have been inherited from Pleistocene fluvial systems reactivated a

130 ary bodies are a consequence of accretion or inherited from prior nebular fractionation.

131 Finally, orientation tuning in V1 was not inherited from single presynaptic LGN cells, suggesting

132 effect of source LD (SLD), which is directly inherited from source populations.

133 afish suggest that these characteristics are inherited from the common ancestor of the Osteichthyes.

134 anisotropic directional permeability that is inherited from the depositional layering of sedimentary

135 and fibroblast subclones were rare variants inherited from the parental fibroblasts.

136 mRNAs), ribosomes, and regulatory small RNAs inherited from the precursor megakaryocyte (MK).

137 clonal evolution and relapse and the role of inherited genetic variants in leukemogenesis.

138 ly retained in HD-ALL blasts consistent with inherited genetic variation contributing to arrest of no

139 With thorough validation, quantification of inherited genetic variation may prove useful for stratif

140 The impact of inherited genetic variation on gene expression in humans

141 ationship between individual common maternal/inherited genotypes and risk for heart defects, we condu

142 Inherited germline ABL1 changes have not been associated

143 Coupling inherited germline silencing to somatic silencing may en

144 ormone deficiency associated with maternally inherited gingival fibromatosis is an allelic disorder w

145 ith growth hormone deficiency and maternally inherited gingival fibromatosis.

146 Inherited haemoglobin disorders, including thalassaemia

147 are AUTS2 variant in combination with a rare inherited haplotype affecting STARD9, while another carr

148 Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mut

149 Arrhythmogenic cardiomyopathy is an inherited heart muscle disorder, predisposing to sudden

150 The recognition that patients with inherited hematologic malignancy syndromes may present w

151 All carriers of inherited heterozygous germline BAP1-inactivating mutati

152 n early-onset form of neurodegeneration when inherited homozygously.

153 reclinical models of neuropathic pain and in inherited human pain phenotypes, and its gene expression

154 errors of immune-related genes that underlie inherited human susceptibility to opportunistic mycoses

155 Maternal and inherited (ie, case) genetic factors likely contribute t

156 Heterochromatin can be epigenetically inherited in cis, leading to stable gene silencing.

157 the genome, effectively expressed and stably inherited in the offspring.

158 Due to the great in vivo complexities inherited in this pathway, there is an unmet need for wh

159 hatic vessel (LV) disorder that is caused by inherited inactivating mutations of the RASA1 gene, whic

160 cerebellar Ataxia Type 3 (SCA3), one of nine inherited, incurable diseases caused by similar mutation

161 opmental disorder that is a leading cause of inherited intellectual disability, and the most common k

162 enus Wolbachia is an archetype of maternally inherited intracellular bacteria that infect the germlin

163 evaluations of the clinical consequences of inherited IRAK-1 deficiency.

164 Dominantly inherited isolated polycystic liver disease (PCLD) consi

165 kidney disease (ADPKD) constitutes the most inherited kidney disease.

166 inal muscular atrophy (SMA), the most common inherited killer of infants, is caused by insufficient e

167 st time, the results of this study show that inherited LAT deficiency should be considered in patient

168 novel DES-p.Glu401Asp mutation as a cause of inherited left ventricular arrhythmogenic cardiomyopathy

169 DES-p.Glu401Asp mutation causes predominant inherited left ventricular arrhythmogenic cardiomyopathy

170 n p.Glu401Asp in a large Spanish family with inherited left ventricular arrhythmogenic cardiomyopathy

171 redicts that appropriate rRNA fragments have inherited local autonomy of folding and local autonomy o

172 d the resulting AuNR-loaded PLTs (PLT-AuNRs) inherited long blood circulation and cancer targeting ch

173 c inhibition of SGK1 in a zebrafish model of inherited long QT syndrome rescues the long QT phenotype

174 eveloped mathematical models of acquired and inherited long-QT syndrome in male and female ventricula

175 ytes of approximately 5% of individuals with inherited loss-of-function coding mutations in TERT or p

176 Inherited loss-of-function mutations in SCN5A lead to de

177 eep-seated seismogenic features coupled with inherited lower plate serpentinite diapirs, provides con

178 residue on CaM that is mutated in a form of inherited LQTS.

179 eds to thousands of copies of the maternally inherited mitochondrial DNA (mtDNA).

180 el termed MNX, we tested the hypothesis that inherited mitochondrial haplotypes alter primary tumor l

181 Inherited mitochondrial optic neuropathies, such as Lebe

182 ane repair and underlies a recessive form of inherited muscular dystrophy.

183 mutations (53/63 solved cases), followed by inherited mutations (6/63 solved cases) and de novo CNVs

184 time, leads to age-related cataract, whereas inherited mutations are associated with congenital or ea

185 Individuals with these inherited mutations demonstrate incomplete penetrance of

186 Patients with recessively inherited mutations had a more severe phenotype, and cer

187 Dominantly inherited mutations had prominent clinical variability r

188 ,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive found

189 ely 1-5% of breast cancers are attributed to inherited mutations in BRCA1 or BRCA2 and are selectivel

190 Probands with DNMs or rare inherited mutations in the 67 candidate genes exhibited

191 Protein misfolding caused by inherited mutations leads to loss of protein function an

192 Frequency of inherited mutations was related to case mix, stage, and

193 Patients with clinically actionable inherited mutations whose genetic test results would not

194 ypertrophic obstructive cardiomyopathy is an inherited myocardial disease defined by cardiac hypertro

195 underlies human genetic diseases, including inherited myopathies, neurological disorders, and cancer

196 Huntington's disease (HD) is an inherited neurodegenerative disease affecting predominan

197 Huntington's disease (HD) is a dominantly inherited neurodegenerative disease caused by an expande

198 adrenoleukodystrophy (ALD) is a devastating inherited neurodegenerative disease caused by defects in

199 Huntington's disease is a dominantly inherited neurodegenerative disease caused by the expans

200 tions in the CLN3 gene is the most prevalent inherited neurodegenerative disease in childhood resulti

201 Retinitis pigmentosa (RP) is an inherited neurodegenerative disease, in which the death

202 of spinocerebellar ataxia type 6 (SCA6), an inherited neurodegenerative disease.

203 Huntington's disease (HD) is an inherited neurodegenerative disorder of which skeletal m

204 gton's disease (HD) is an autosomal dominant inherited neurodegenerative disorder, and no cure is ava

205 Huntington disease (HD) is the most common inherited neurodegenerative disorder.

206 lipofuscinosis (INCL, or CLN1 disease) is an inherited neurodegenerative storage disorder caused by a

207 Autosomal recessive inherited neurodevelopmental disorders are highly hetero

208 is a common finding in patients with complex inherited neurological diseases and may be subclinical o

209 channels are sufficient to cause devastating inherited neurological diseases, such as epilepsy and pa

210 in an additional 79 Taiwanese pedigrees with inherited neuropathies and 163 index cases from Australi

211 motor neuropathy is a heterogeneous group of inherited neuropathies characterized by distal limb musc

212 ticipants aged 3 to 20 years enrolled in the Inherited Neuropathies Consortium were assessed at basel

213 Mutations in the DNAJB2 gene lead to inherited neuropathies such as Charcot-Marie-Tooth type-

214 h disease type 1A (CMT1A) is the most common inherited neuropathy, a debilitating disease without kno

215 CMT1X, an X-linked inherited neuropathy, is caused by mutations in GJB1, wh

216 Congenital cataract is the most frequent inherited ocular disorder and the most leading cause of

217 Inherited or acquired ADAMTS13 deficiency allows the unr

218 (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed

219 ely arise from a single driver event, either inherited or acquired.

220 disability disorder in ten individuals with inherited or de novo monoallelic BRPF1 mutations.

221 tive disease variant(s) for individuals with inherited or de novo mutations presents one of the main

222 Long QT syndrome (LQTS) is an inherited or drug induced condition associated with dela

223 ts (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical

224 loci that differ in chromatin state and are inherited over generations.

225 work for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing ge

226 o address a genetic evaluation framework for inherited PCA in the multigene testing era.

227 ilial variants of alphaS are correlated with inherited PD.

228 Inherited peroxisomal biogenesis disorders (PBDs) are ch

229 ith infectious prion diseases in mammals and inherited phenotypes in yeast.

230 in hematopoietic TFs in the pathobiology of inherited platelet defects.

231 ntington's disease (HD) is the most commonly inherited polyglutamine expansion disorder, but how muta

232 Diagnosis of an inherited predisposition to hematologic malignancy infor

233 Of all inherited predispositions to breast cancer in the NYBCS,

234 sarcomeric proteins are the leading cause of inherited primary cardiomyopathies.

235 Primary hyperoxaluria type 1 (PH1), an inherited rare disease of glyoxylate metabolism, arises

236 tions in KDSR have recently been reported in inherited recessive forms of progressive symmetric eryth

237 The mineralized weathering crusts inherited REE signature of the granites, but show more C

238 also include a separate category of complex inherited relapsing neuropathy syndromes, some of which

239 Retinitis pigmentosa (RP) is an inherited retinal degeneration (RD) that leads to blindn

240 n IFT43 as the underlying cause of recessive inherited retinal degeneration.

241 white-light exposure, and Fam161a-associated inherited retinal degeneration.

242 ) are in clinical trial for the treatment of inherited retinal degeneration.

243 d molecular genetic findings in nonsyndromic inherited retinal degenerations associated with CLN3 mut

244 Retinitis pigmentosa (RP) is a group of inherited retinal degenerations that lead to progressive

245 are increasingly found to cause nonsyndromic inherited retinal degenerations.

246 mentation therapy shows promise for treating inherited retinal degenerations; however, relevant anima

247 netic testing in a pediatric population with inherited retinal disease (IRD).

248 e multiplatform genetic testing strategy for inherited retinal disease and to describe its performanc

249 Inherited retinal disease is a common cause of visual im

250 Genetic testing for inherited retinal disease is now more than 75% sensitive

251 s not previously known to be associated with inherited retinal disease, which harbor biallelic predic

252 h which to investigate the genetic causes of inherited retinal disease.

253 Retinal dystrophy (IRD) is a broad group of inherited retinal disorders with heterogeneous genotypes

254 cing panel targeting 105 genes implicated in inherited retinal disorders.

255 As inherited retinal dystrophies (IRD) are characterized by

256 Inherited retinal dystrophies (IRDs) are a clinically an

257 ls who exhibit partial loss of vision due to inherited retinal dystrophies (IRDs).

258 such as age-related macular degeneration and inherited retinal dystrophies, aoong others.

259 Inherited Retinal dystrophy (IRD) is a broad group of in

260 improved functional vision in RPE65-mediated inherited retinal dystrophy previously medically untreat

261 R) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blin

262 enefit of gene replacement in RPE65-mediated inherited retinal dystrophy.

263 s pigmentosa (RP) is the most common form of inherited retinal dystrophy.

264 ons in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are in

265 tal amaurosis (LCA), the most severe form of inherited retinopathy in early childhood.

266 protein Merlin is found in most sporadic and inherited schwannomas, but the molecular mechanisms unde

267 Our study demonstrates that Neanderthal-inherited sequences are not silent remnants of ancient i

268 in segmentation act as windows through which inherited serpentinites rise to the sub-seafloor.

269 genetic evidence that small RNAs embody the inherited silencing signal.

270 The discovery of pathogenic mutations in inherited skin diseases represents one of the major land

271 st cases of BCC are sporadic, some forms are inherited, such as Bazex-Dupre-Christol syndrome (BDCS)-

272 ia remain unclear, but there is evidence for inherited susceptibility.

273 Additionally, genome-wide surveillance of inherited SVs reveals novel variants, missed in short-re

274 M in mothers of infants with CMA may reflect inherited systemic immunogenicity of CM proteins in thes

275 R-tau has been found in several sporadic and inherited tauopathies, suggesting that dysregulation of

276 Our data suggests that PrP and ZIP6 inherited the ability to interact with NCAM1 from their

277 one group of European ciHHV-6B carriers has inherited the same ciHHV-6B genome, integrated in the sa

278 genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in chi

279 As these components are inherited, this should also cause lineage-to-lineage var

280 e of albinism in European populations and is inherited through autosomal recessive mutations in the T

281 nto the problem of how epigenetic states are inherited through cell division, with intriguing mechani

282 e established early in the visual system and inherited throughout later stages to affect a range of h

283 ty to staphylococcal LTA in individuals with inherited TIRAP deficiency, accounting for incomplete pe

284 ndels and fragment deletion were both stably inherited to the next generations, and transgene-free mu

285 All mutations were stably inherited to the T2 progeny.

286 value representations in the striatum may be inherited, to some extent, from the amygdala.

287 nes in recombination-poor regions tend to be inherited together, hindering the generation of novel al

288 d a natural experiment involving genetically inherited traits, and find evidence that malaria parasit

289 We conclude that land plants inherited two Pi uptake mechanisms - mediated by the PTB

290 isorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developme

291 rtion and potential clinical implications of inherited variants detected using simultaneous sequencin

292 ral evolution can be described as systems of inherited variation that change over time in response to

293 a ADAMTS13 autoantibodies, but rarely, it is inherited via mutations of the ADAMTS13 gene.

294 These domains can be epigenetically inherited when epe1(+) , encoding an enzyme that promote

295 sis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.

296 In contrast, it is inherited with half the mother's genome during normal re

297 s but result in less severe bleeding when co-inherited with hemophilia.

298 confers a silenced state that is metastably inherited, with memory held in the local chromatin.

299 ixture model to compare the sex-specifically-inherited X chromosome with the autosomes in 20 early Ne

300 mpt, and is likely to be achieved through an inherited yet highly accurate behavioural heuristic.