ライフサイエンスコーパス: inherited

1 ch pair of parental haplotypes the offspring inherited).

2 these variants occurred de novo, and one was inherited.

3 s, maxillate placoderms and osteichthyans is inherited.

4 ers and the proportion of variants that were inherited.

5 In members of family 1, a maternally inherited 4-nucleotide deletion was identified (c.2129_2

6 Basically, the inherited ability of TiO(2) to generate reactive oxygen

7 elemental (C and N), and lignin composition (inherited (Ad/Al)s and C/V) were not completely consiste

8 ng protein-alpha (CSPalpha) cause dominantly inherited adult-onset neuronal ceroid lipofuscinosis (AN

9 oRNAs (miRNAs) expressed from the maternally inherited allele ("maternally expressed") to explore the

10 17 mutation carriers from the DIAN (Dominant Inherited Alzheimer Network) study group cohort with amy

11 decades of disease progression in dominantly inherited Alzheimer's disease.

12 were autosomal recessive (of which 95% were inherited and 5% were de novo), 1 was inherited X-linked

13 s were autosomal dominant (of which 12% were inherited and 88% were de novo), 27% (10 of 37) were aut

14 Inherited and acquired abnormalities of TET2 occur in 0.

15 pathologies or represent the direct cause of inherited and acquired disorders.

16 death that is linked to the pathogenesis of inherited and acquired human diseases.

17 Strong causal links between inherited and acquired impairment in RiBi with cancer pa

18 oagulability, which is compounded by patient-inherited and acquired risk factors.

19 f polygenic predisposition to AF and adds to inherited and clinical predisposition to increase AF sus

20 Inherited and de novo variants in BICD2 cause SMALED2 (s

21 icrobiome-mediated resistance was maternally inherited and increased over successive generations, whi

22 in germ cells, meaning that the virus can be inherited and result in individuals harboring the virus

23 ed in aging and organ dysfunction in diverse inherited and sporadic diseases.

24 Inherited and sporadic RP gene variants are also linked

25 Up to 30% of all breast cancer cases may be inherited and up to 85% of those may be due to segregati

26 loid structures (prion variants) each stably inherited and with differing biological properties.

27 anemias (CDAs) are a heterogeneous group of inherited anemias that affect the normal differentiation

28 genetically determined mechanisms underlying inherited aortopathies and critically appraise the avail

29 LQTS) is the first described and most common inherited arrhythmia.

30 gists who have seen at least one patient for inherited arrhythmias or cardiomyopathies.

31 previously reported harbor genes underlying inherited arrhythmic syndromes and/or cardiomyopathies s

32 DEB can be inherited as recessive DEB (RDEB) or dominant DEB (DDEB)

33 ed insights into primary immunodeficiencies, inherited autoimmune and autoinflammatory diseases, and

34 Three inherited autosomal dominant conditions-BRCA-related her

35 Women with inherited bleeding disorders, including carriers of hemo

36 ment of pregnancy and delivery in women with inherited bleeding disorders.

37 y was recently approved for the treatment of inherited blindness and spinal muscular atrophy, and lon

38 s in eye diseases linked to inflammation and inherited blindness-causing mutations in AIPL1.

39 Mutations in IMPDH1 lead to inherited blindness.

40 F) in Fanconi anemia (FA), the most frequent inherited BMF disorder in humans.

41 Inherited bone marrow failure (BMF) syndromes are a hete

42 hildren causing a previously uncharacterized inherited bone marrow failure and pre-leukemic syndrome.

43 leukaemia and Shwachman-Diamond syndrome, an inherited bone marrow failure disorder with high risk of

44 F1 and SEC23B), reported in prior MDS/AML or inherited bone marrow failure series (DNAH9, NAPRT1 and

45 osomopathy described and is a constitutional inherited bone marrow failure syndrome.

46 Inherited bone marrow failure syndromes (IBMFSs) are cha

47 ng shows that keratins become asymmetrically inherited by outer daughter cells during cell division,

48 Spinocerebellar ataxia type 7 (SCA7) is an inherited CAG-polyglutamine repeat disorder.

49 The time to detect inherited cancer predisposing variants in the population

50 LS is the most common inherited cancer predisposition condition and confers an

51 systematically evaluate deleterious DNMs in inherited cancer syndromes.

52 reover, knowledge about gene function in the inherited cancers offers insights towards biological pro

53 The main inherited cardiac arrhythmias are long QT syndrome, shor

54 rrhythmia syndromes, relatives with manifest inherited cardiac condition, relatives without children

55 Inherited cardiac conditions present with a wide range o

56 mates of the incidence and prevalence of the inherited cardiomyopathies have been derived from screen

57 yocardial infarction and gene correction for inherited cardiomyopathies that were unapproachable unti

58 ight ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy, which is associated with life-

59 improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopa

60 Though traditional teaching suggested that inherited cases accounted for only 10% of all phaeochrom

61 Among inherited cases, there is evidence of deleterious varian

62 nd in our cohorts was the second most common inherited cause of childhood glaucoma after CYP1B1 and j

63 genital myopathies, including the dominantly inherited central core disease and exercise-induced rhab

64 Thus, pesticide exposure causes functional, inherited changes in the microbiome that should be consi

65 This condition is referred to as inherited chromosomally integrated HHV-6A/B (iciHHV-6A/B

66 les with HHV-6 RNA in the placenta exhibited inherited, chromosomally integrated HHV-6 (iciHHV-6).

67 P53 c.1000G>C allele was found on a commonly inherited chromosome 17p13.1 haplotype.

68 Some cells discard undesired inherited components in bulk by forming large compartmen

69 Sickle cell disease is a life-threatening inherited condition designated as a public health priori

70 s (colorectal, pancreatic, and leukemia) and inherited conditions (Lynch and familial adenomatous pol

71 nnel gain of function (GOF), arising in both inherited conditions associated with mutation in the gen

72 The inherited conditions have been clustered with primary im

73 esting that the expression of the paternally inherited copy of Dot1l in the embryo is sufficient to s

74 ra genotype for two predominantly maternally inherited cytoplasmic markers (COI and rbcLS spacer) in

75 mprised of seven individuals with dominantly inherited DA, a c.98C>T (p.Ala33Val) variant segregated

76 MYLPF underlie both dominant and recessively inherited DA.

77 Genetic studies of inherited deafness in the past decades have uncovered se

78 tosis (HLH), a disease often associated with inherited defects in cell-mediated cytotoxicity, serves

79 The spectrum of diseases caused by inherited defects in genes that encode the Fe-S assembly

80 ere anaphylaxis in humans is associated with inherited differences in alpha-tryptase-encoding copies

81 The relative proportion of each cardiac inherited disease (CID) causing resuscitated sudden card

82 disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being

83 Here we show that inherited, disease-causing mutations located within the

84 pplications of next-generation sequencing in inherited diseases and oncology, clinical laboratories a

85 data were collected by the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ).

86 sfunction in human diseases goes beyond rare inherited diseases, such as lysosomal storage disorders,

87 rs or lead to the development of genetically inherited diseases.

88 es encoding ARS enzymes lead to myriad human inherited diseases.

89 Citrullinemia type II (CTLN-II) is an inherited disorder caused by germline mutations in SLC25

90 al hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by arterial hypertensio

91 Neurofibromatosis type 2 (NF2) is an inherited disorder characterized by bilateral vestibular

92 hronic granulomatous disease (CGD) is a rare inherited disorder of phagocytic cells(1,2).

93 scuss NHEJ-related human diseases, including inherited disorders and neoplasia, which arise from rare

94 esented unprecedented opportunities to treat inherited disorders and other diseases such as cancer th

95 Dominantly inherited disorders are not typically considered to be t

96 Corneal dystrophies are broadly defined as inherited disorders that affect any layer of the cornea

97 resents a heterogeneous group of haemoglobin inherited disorders, among the most common genetic disea

98 xploited to identify therapeutic targets for inherited disorders.

99 re age-related clonal hematopoiesis in these inherited disorders.

100 rimary immune deficiencies, as well as other inherited disorders.

101 in wild-type hosts compared to those with an inherited driver allele.

102 DIT is not only a mechanism of inherited drug resistance, but proliferating DIT cells c

103 ication, spindle MTOCs can be differentially inherited during asymmetric cell division in organisms r

104 hibit anomalous (182)W-an isotopic signature inherited during the earliest history of Earth-supportin

105 relative contribution of primordial nitrogen inherited during the Earth's accretion versus that subdu

106 aled unexpectedly rich relationships between inherited epigenetic states, transcription factor-DNA bi

107 The mutation causing inherited erythromelalgia, Nav1.7 p.I848T, is known to i

108 ogma that human mitochondrial DNA (mtDNA) is inherited exclusively down the maternal line, most recen

109 In many organisms, asymmetrically inherited fate determinants drive lineage specification(

110 mbled by keratins function as asymmetrically inherited fate determinants in the mammalian embryo.

111 reciated as one of the most common causes of inherited focal epilepsy.

112 umbers of patients diagnosed with one of the inherited forms of amyloidosis for which currently there

113 Rare inherited forms of CKD frequently span diverse phenotype

114 t novel loci (DHX34) that appear specific to inherited forms of myeloid malignancies.

115 Inherited frameshift indel mutations of human erythroid-

116 dently best interpreted as a primitive trait inherited from an arboreal ancestral species rather than

117 osis can be acquired in older individuals or inherited from birth.

118 TGCT methylation is inherited from both male and female gametes, remodelled

119 nts in binocular tuning in layer 2/3 are not inherited from layer 4 but are driven by the experience-

120 variation is novel, with some variants being inherited from Neanderthals and Denisovans.

121 he reversible silencing of 35S/45S rDNA loci inherited from one of the ancestors of an allopolyploid.

122 tion) and one family with a missense variant inherited from the affected mother.

123 to-eukaryotic gene repertoire, with families inherited from the Asgard archaea-related host being dup

124 eothems and scleractinian coral skeletons is inherited from the dissolved inorganic carbon pool of th

125 In humans, most germline mutations are inherited from the father.

126 This epigenetic memory is inherited from the maternal germline, apparently through

127 module, to explore the regulatory properties inherited from the motif.

128 cting which haplotype segments the offspring inherited from their parents.

129 a of planetary orbits similar to what Kepler inherited from Tycho Brahe in 1601, and the serving algo

130 Inherited gene mutations in cholesterol metabolism resul

131 oretical research that implements a unifying inherited gene regulation (IGR) approach to studies of '

132 In conclusion, inherited genetic and shared environmental effects on le

133 ad documentation in their medical records of inherited genetic disease risk, including family history

134 difficult ailments such as cancer as well as inherited genetic diseases.

135 holds the potential to reduce the burden of inherited genetic disorders and improve fertility treatm

136 ole in a myriad of human diseases, including inherited genetic disorders, degenerative diseases, infl

137 An individual's inherited genetic makeup and acquired genomic variants m

138 D-loop of mitochondrial DNA as a maternally inherited genetic marker, we address the question of the

139 ions and analysed these for relationships to inherited genetic variation.

140 Our findings propose that the inherited genome does not exert a dominant influence on

141 iosynthesis of GPI anchors in humans lead to inherited glycosylphosphatidylinositol deficiency (IGD).

142 of GPI-anchored proteins (GPI-APs) and cause inherited GPI deficiency disorders (IGDs).

143 or the great majority (87%) of families with inherited hearing loss, panel-based genomic DNA sequenci

144 Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatose

145 nts in NUP genes have been linked to several inherited human diseases, including a number with progre

146 (DM1) is a multisystemic autosomal-dominant inherited human disorder that is caused by CTG microsate

147 xpansions of amino acid repeats occur in >20 inherited human disorders, and many occur in intrinsical

148 spontaneous prion formation in sporadic and inherited human prion diseases or equivalent animal dise

149 Mitochondria are maternally inherited in many organisms.

150 stions of whether parental structures can be inherited in the newly formed embryo and how these struc

151 d a missense variant, p.Thr114Ile, that were inherited in trans, the second patient was homozygous fo

152 d the p.Thr114Ile missense variant that were inherited in trans.

153 9 methylation (H3K9me) can be epigenetically inherited independently of underlying DNA sequence.

154 f fragile X syndrome (FXS), a common form of inherited intellectual disabilities with a high risk for

155 ragile X syndrome is the most common form of inherited intellectual disability and is caused by a def

156 Fragile X Syndrome (FXS), the most prevalent inherited intellectual disability.

157 es fragile X syndrome (FXS), the most common inherited intellectual disability.

158 m and its sister species harbor a maternally inherited intracellular bacterial symbiont.

159 s a negative regulator of IFN signaling, and inherited ISG15 deficiency leads to autoinflammatory IFN

160 rited USP18 deficiency, which, together with inherited ISG15 deficiency, defines a group of type I in

161 ns, it distinguishes those genomes that have inherited it from those that have not, providing a glimp

162 This article reviews genetic testing for inherited kidney disease in living kidney donors to impr

163 ic data to identify variants associated with inherited lipodystrophies and examined their EHR for com

164 hythm phenotypes of fetuses with de novo and inherited LQTS variants and identify risk factors for su

165 a well-characterized, autosomal recessively inherited lysosomal disease caused by mutations in lysos

166 TIMP3, and SLC16A8), and 3 genes that cause inherited macular dystrophies (ABCA4, CTNNA1, and PRPH2)

167 Stargardt disease, the most common inherited macular dystrophy, is characterized by vision

168 reclassification of these patients as having inherited macular dystrophy.

169 operties of neurons in the visual system are inherited mainly from feedforward inputs.

170 e is limited, it is essential that there are inherited mechanisms whereby an individual can navigate-

171 disorder which is the most prevalent form of inherited mental retardation and the primary monogenetic

172 ria (PA) is an ultra-rare, life-threatening, inherited metabolic disorder caused by deficiency of the

173 penia and neutrophil dysfunction in the rare inherited metabolic disorder GSD-Ib without causing symp

174 evelopment of new therapeutic strategies for inherited metabolic disorders and diseases of aging.

175 nic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the

176 itochondrial disease, one of the most common inherited metabolic disorders.

177 re highly specific and that novel and stably inherited methylation variants are of biological signifi

178 ir parents to identify introduced and stably inherited methylation variants.

179 We targeted the maternally inherited mitochondrial DNA (mtDNA), known to be highly

180 iant in ESRRB was implicated for recessively inherited moderate to severe hearing loss.

181 ey disease (ADPKD) is one of the most common inherited monogenic disorders, characterized by a progre

182 It is inherited most commonly in an autosomal recessive patter

183 likely caused by depletion of the production-inherited MPFs trapped within the threads or the textile

184 eal a previously unappreciated mechanism for inherited MPN risk through the modulation of HSC functio

185 lcoholic myopathy is more prevalent than all inherited muscle diseases combined.

186 P70-DNAJB6 may be effective in treating this inherited muscular dystrophy.

187 e instability syndrome of children caused by inherited mutations in one of FA genes, which together c

188 Inherited mutations in the enzymes that make LA, namely

189 Inherited mutations of replisome components have been id

190 the commonest human enzymopathies, caused by inherited mutations of the X-linked gene G6PD.

191 dence-based treatment of patients with these inherited mutations will depend on worldwide partnership

192 oreceptors caused by excessive illumination, inherited mutations, or aging is the principal pathology

193 humans leads to approximately 1.5 additional inherited mutations.

194 ation on first migration is controlled by an inherited navigational vector, a direction and a distanc

195 ion in humans (rs80356664) causes dominantly inherited neonatal diabetes.

196 ntified ion channels that can directly cause inherited neurodegeneration syndromes, but the molecular

197 ebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by CAG (encod

198 Huntington's disease (HD) is a dominantly inherited neurodegenerative disease.

199 gton disease (HD) is an autosomal dominantly inherited neurodegenerative disorder caused by a CAG rep

200 Huntington's disease (HD) is an inherited neurodegenerative disorder caused by an expand

201 otein in its mutant form is the cause of the inherited neurodegenerative disorder, Huntington's disea

202 esents a promising approach for treatment of inherited neurodegenerative disorders.

203 of the number of causal genes identified for inherited neuromuscular disorders.

204 seen at the participating study sites of the Inherited Neuropathies Consortium.

205 such as chemotherapy-induced, diabetic, and inherited neuropathies, and ocular disorders, such as gl

206 Whereas repressed chromatin is robustly inherited, no mechanism that facilitates inheritance of

207 ese results support the regulatory roles for inherited noncoding variants in the pathogenesis of CLL.

208 These findings suggest that inherited NOS2 deficiency was clinically silent in this

209 al arrhythmia disorder caused by recessively inherited null variants in TRDN-encoded cardiac triadin.

210 Inherited optic neuropathies are rare eye diseases of op

211 previous optic neuritis, and compressive and inherited optic neuropathies.

212 Short telomere length, mediated by inherited or acquired factors, impairs cellular response

213 on (HR) repair arise in cancer cells through inherited or acquired mutations in BRCA1, BRCA2, or othe

214 ase in children and adults with a variety of inherited or acquired T-cell immunodeficiencies, who are

215 rs, and our ability to distinguish germline (inherited or de novo) and somatic mutations is often lim

216 ted quality of life (HRQoL) in patients with inherited or idiopathic isolated dystonia.

217 fits in HRQoL following DBS in patients with inherited or idiopathic isolated dystonia.

218 onia, which can be dominantly or recessively inherited, or occur de novo.

219 ell embryos (loading), in part shaped by the inherited parental epigenome.

220 ion of the SNCA gene locus causes dominantly inherited Parkinson's disease (PD), and alpha-synuclein

221 colorectal cancer, and other cancers through inherited pathogenic variants affecting mismatch-repair

222 ause of bone marrow failure and is caused by inherited pathogenic variants in any of 22 genes.

223 hology and result in several subtypes of the inherited peripheral neuropathy Charcot-Marie-Tooth dise

224 Protein 22 (PMP22) causes multiple forms of inherited peripheral neuropathy.

225 The importance of germline-inherited post-translational histone modifications on pr

226 Inherited PPGL is a highly genetically heterogeneous dis

227 e by the provision of widespread testing for inherited PPGL.

228 Excess alcohol intake and inherited predisposition may increase risk of atrial fib

229 SOCS1 haploinsufficiency causes a dominantly inherited predisposition to early onset autoimmune disea

230 interface between environmental factors and inherited predisposition.

231 which model the PRNP A117V mutation causing inherited prion disease (IPD) including Gerstmann-Straus

232 s that directly mirror those generated in an inherited prion disease in humans.

233 Inherited prion diseases are caused by autosomal dominan

234 th distribution as the best estimate for the inherited progenitor allele length (ePAL), which is itse

235 ransthyretin-mediated amyloidosis is a rare, inherited, progressive disease caused by mutations in th

236 We found 52 inherited, rare, large-effect coding or splice variants

237 produce congenital kidney abnormalities and inherited renal tubulopathies.

238 chigan, USA) with a clinical diagnosis of an inherited retinal degeneration (n = 128) participated in

239 twenty-eight patients with a diagnosis of an inherited retinal degeneration at the Kellogg Eye Center

240 Inherited retinal degenerations (IRDs) are at the focus

241 ese two cell types in the diseasesettings of inherited retinal degenerations and age-related macular

242 and the numerous ongoing clinical trials for inherited retinal degenerations, quantifiable and reliab

243 e for use in the evaluation of patients with inherited retinal degenerations.

244 ing non-gene-specific therapeutic avenue for inherited retinal degenerations.

245 ring vision-related anxiety in patients with inherited retinal degenerations.

246 eber's congenital amaurosis (LCA) is a known inherited retinal disease (IRD) associated with severe v

247 a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigate

248 A common inherited retinal disease is caused by mutations in RHO

249 nes associated with autosomal recessive (AR) inherited retinal diseases (IRDs).

250 further testing of ABEs for the treatment of inherited retinal diseases and for the correction of pat

251 gene are associated with a broad spectrum of inherited retinal diseases ranging from severe autosomal

252 sent alternative approaches in patients with inherited retinal diseases that aim to improve surgical

253 Inherited retinal disorder (IRD) is a leading cause of b

254 ors in rare diseases, such as Rett syndrome, inherited retinal disorders, idiopathic pulmonary fibros

255 a valuable imaging tool in the diagnosis of inherited retinal dystrophies.

256 r-specific gene C2orf71, which is mutated in inherited retinal dystrophy (RP54).

257 Stargardt disease (STGD1), known as inherited retinal dystrophy, is caused by ABCA4 mutation

258 Mutations in the AIPL1 gene cause a severe inherited retinal dystrophy, Leber congenital amaurosis

259 tients (N = 746) with confirmed diagnoses of inherited retinal dystrophy.

260 quired mutations systematically replaced the inherited risk alleles (at MPL) or duplicated them to th

261 mal alterations that duplicate or remove the inherited risk alleles, including large-effect rare vari

262 c risk score (GRS) constructed as the sum of inherited risk alleles, weighted by allelic effects esta

263 or their ability to identify non-LS forms of inherited risk.

264 an and breast carcinomas are associated with inherited risk.

265 style or use of statins may offset increased inherited risk.(,)

266 anoma cancer risk among individuals with low inherited risks of melanoma (OR 1.168; 95% CI 0.78-1.74;

267 Inherited RYR2 mutations and/or stress-induced phosphory

268 re, we investigate immunity in patients with inherited salt-losing tubulopathies (SLT).

269 Ancestor Set distance (CASet) and Distinctly Inherited Set Comparison distance (DISC), that are speci

270 al muscular dystrophy (FSHD) is a prevalent, inherited skeletal myopathy linked to hypomethylation of

271 sight into the underlying pathophysiology of inherited skin blistering.

272 The discovery of genetic causes of inherited skin disorders has been pivotal to the underst

273 ed wound dressings from 51 patients with the inherited skin-blistering disease epidermolysis bullosa

274 GSCs), histones H3 and H4 are asymmetrically inherited, such that pre-existing (old) histones are seg

275 Thus, the DCs epigenome links inherited susceptibility and clinically apparent fibrosi

276 common DNA variants into a single measure of inherited susceptibility, and can identify individuals w

277 ors of malaria, there are limited reports of inherited symbionts that impair transmission.

278 involves the dissemination in mosquitoes of inherited symbiotic microbes to block Plasmodium transmi

279 ced offspring demonstrated three individuals inherited the mutant allele from the CHS carrier male.

280 0% of cells, the majority of which must have inherited this circle from their mother.

281 Inherited thoracic aortopathies denote a group of congen

282 id arthritis and 2.5% in those without), and inherited thrombophilia (factor V Leiden carriers with a

283 While we are now able to diagnose inherited thrombophilias in a substantial number of pati

284 n shown to carry more prognostic weight than inherited thrombophilias.

285 geted de novo centromeres to assemble and be inherited through development.

286 e that is associated with autosomal dominant inherited tooth agenesis.

287 restriction of cell fate competence through inherited transcriptional identities.

288 iRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter

289 In neurons, the paternally inherited UBE3A allele is silenced in cis by a long non-

290 by a mutation or deletion of the maternally inherited UBE3A allele.

291 ector can restore the function of paternally inherited UBE3A throughout life, providing a path toward

292 a novel molecular and clinical phenocopy of inherited USP18 deficiency, which, together with inherit

293 ine individuals with mono-allelic de novo or inherited variants in KDM4B.

294 ied six previously undescribed loci at which inherited variants predispose to mosaic chromosomal alte

295 tion, or as a result of germline testing for inherited variants.

296 This work expands understanding of inherited variation and provides a roadmap for the epige

297 This model suggests that humans inherited voluntary control of jaw oscillations from anc

298 d gene families are predominantly vertically inherited, while accessory plasmid gene families show si

299 rpretation of the significance of maternally inherited X chromosome variants in males with neurocogni

300 % were inherited and 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inh