ライフサイエンスコーパス: genetic disease

1 iseases including cancer and how they affect genetic disease.

2 hen designing hiPSC-based studies of complex genetic disease.

3 minating the arrhythmic consequences of this genetic disease.

4 erebral or spinal pial AVF were screened for genetic disease.

5 e show better renal survival than those with genetic disease.

6 as a powerful system for the study of human genetic disease.

7 ve been responsible for several instances of genetic disease.

8 o statistically associate these effects with genetic disease.

9 amilies' experiences when living with a rare genetic disease.

10 a driving force behind genome evolution and genetic disease.

11 central role in the inheritance and onset of genetic disease.

12 ntally influences evolution and incidence of genetic disease.

13 and how these processes are dysregulated in genetic disease.

14 used responsibly to treat, cure and prevent genetic disease.

15 ght into time-shifted protein structures and genetic disease.

16 or its function in the immune system and for genetic disease.

17 our understanding of human genetics and cure genetic disease.

18 organelle that is directly relevant to human genetic disease.

19 Cancer is a genetic disease.

20 utagenesis, driving phenotypic diversity and genetic disease.

21 dominant negative mutations associated with genetic disease.

22 nclear whether variants in this gene cause a genetic disease.

23 brorenal Lowe syndrome, a rare multisystemic genetic disease.

24 basis of evolutionary diversity but also of genetic disease.

25 r use for nonpediatric cancers and noncancer genetic diseases.

26 be applied to the treatment of skin-related genetic diseases.

27 e way for a permanent splicing correction in genetic diseases.

28 ant usefulness in diagnosis and treatment of genetic diseases.

29 uman Phenotype Ontology in the study of rare genetic diseases.

30 host-pathogen interactions, cancer, and rare genetic diseases.

31 major cause of morbidity and mortality among genetic diseases.

32 r pharmacological rescue in loss-of-function genetic diseases.

33 underlying one common molecular mechanism of genetic diseases.

34 tform that offers revolutionary solutions to genetic diseases.

35 leles provides a unique approach to treating genetic diseases.

36 development of Cas9-based therapies against genetic diseases.

37 sing demand for the early stage diagnosis of genetic diseases.

38 quencing has revolutionized the diagnosis of genetic diseases.

39 xpressivity and environmental sensitivity of genetic diseases.

40 cilia, a critically affected process in many genetic diseases.

41 ed a major approach to dissect complex human genetic diseases.

42 could be a potential therapeutic target for genetic diseases.

43 cs and are also the underlying cause of many genetic diseases.

44 therefore advance the study and treatment of genetic diseases.

45 DSP mutations cause dentin genetic diseases.

46 innate immune response and the occurrence of genetic diseases.

47 bility, a hallmark of cancer and a number of genetic diseases.

48 d from AF are commonly used for diagnosis of genetic diseases.

49 -random aneuploidy, a hallmark of cancer and genetic diseases.

50 standing of evolution and the development of genetic diseases.

51 nary forces to operate on and cause numerous genetic diseases.

52 ts for drug resistance, and in understanding genetic diseases.

53 y understood organelles, where defects cause genetic diseases.

54 isease (ADPKD), one of the most common human genetic diseases.

55 effective treatments for diverse acquired or genetic diseases.

56 s for the use of gene editing to treat human genetic diseases.

57 er pathogens, particularly viruses and other genetic diseases.

58 and diagnosis permit early detection of many genetic diseases.

59 evealed many susceptibility loci for complex genetic diseases.

60 SVs, have been suggested in association with genetic diseases.

61 reeding, or the study and treatment of human genetic diseases.

62 d to increase the safety of gene therapy for genetic diseases.

63 ntisense oligonucleotides as a treatment for genetic diseases.

64 ) is one of the most common life-threatening genetic diseases.

65 ailments such as cancer as well as inherited genetic diseases.

66 ing therapeutic modality to treat a range of genetic diseases.

67 e ability to explore molecular mechanisms of genetic diseases.

68 atly accelerated the discovery of rare human genetic diseases.

69 population genetic variation and diagnosing genetic diseases.

70 ly unedited endogenous sites associated with genetic diseases.

71 river of evolution and an important cause of genetic diseases.

72 genitors, and can be applied to other common genetic diseases.

73 ic proteins is a promising approach to treat genetic diseases.

74 ld considerable promise for the treatment of genetic diseases.

75 ranging implications for treating many human genetic diseases.

76 cell types involved in complex, inflammatory genetic diseases.

77 Cas9 system to therapeutically correct human genetic diseases(1-6).

78 Duchenne muscular dystrophy (DMD) is a rare genetic disease affecting 1 in 3500-5000 newborn boys.

79 lar dystrophy (MD) is a group of progressive genetic diseases affecting the musculature that are char

80 ne, defects of which are linked to the human genetic disease alkaptonuria.

81 R-Cas9 is a promising therapeutic avenue for genetic diseases, although off-target editing remains a

82 as biocuration support, gene prioritization, genetic disease analysis, and literature-based knowledge

83 instability can be a hallmark of both human genetic disease and cancer.

84 y holds immense promise for the treatment of genetic disease and cancer.

85 enthood grows, the effect of parental age on genetic disease and child health becomes ever more impor

86 blishes an important link between this human genetic disease and chromatin plasticity.

87 as been associated with genomic instability, genetic diseases and cancer progression.

88 About one-third of genetic diseases and cancers are caused by the introduct

89 ed duplications, have been observed in human genetic diseases and cancers.

90 s is critical for early diagnosis of cancer, genetic diseases and follows up response to treatment.

91 Several genetic diseases and most malignancies tend to be associ

92 development and could be exploited to treat genetic diseases and repair bone are also explored.

93 Despite the role NAGC plays in various genetic diseases and the concerted evolution of gene fam

94 ical problems including the study of complex genetic diseases and the development of personalized med

95 ns for the understanding of loss-of-function genetic diseases and the identification of novel structu

96 PTCs are a frequent cause of human genetic diseases, and the NMD pathway is known to modula

97 ions on protein stability and their roles in genetic disease are not well understood.

98 While congenital malformations and genetic diseases are a leading cause of early infant dea

99 As genetic diseases are believed to be caused by genetic al

100 Genes carrying mutations associated with genetic diseases are present in all human cells; yet, cl

101 human cells; yet, clinical manifestations of genetic diseases are usually highly tissue-specific.

102 Although most genetic diseases arise from point mutations, current app

103 xpression of FOXC proteins are implicated in genetic diseases as well as cancer.

104 rous infectious, inflammatory, metabolic and genetic diseases, as well as alcohol abuse can also infl

105 Tuberous sclerosis complex (TSC) is a genetic disease associated with epilepsy and autism.

106 his review, we will summarize and review the genetic diseases associated with mutations in genes of t

107 cted gene and differentiating HSP from other genetic diseases associated with spasticity can be chall

108 nthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly

109 ride denaturation experiment, and found that genetic disease-associated mutations tend to have a sign

110 8) and will have broad utility in population genetics, disease-association studies, and diagnostic sc

111 birthmarks can be an indicator of underlying genetic disease but are often overlooked.

112 l nerves in both the immune-mediated and the genetic disease, but the observation of prominent centra

113 n individuals determined to have clinical or genetic disease by cascade screening, no SCD has occurre

114 al phenomenon, likely to be relevant for all genetic diseases, can be detected through single-cell an

115 onsense mutations underlie about 10% of rare genetic disease cases.

116 Cri-Du-Chat Syndrome (CdCs) is a rare genetic disease caused by a deletion in the short arm of

117 The genetic disease caused by biallelic NFASC variants inclu

118 n-Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processin

119 Huntington's disease (HD) is a rare genetic disease caused by expanded polyglutamine repeats

120 Friedreich's Ataxia is a genetic disease caused by expansion of an intronic trinu

121 c Fibrosis (CF) is a multi-organ progressive genetic disease caused by loss of functional cystic fibr

122 in a mouse model for Keutel syndrome, a rare genetic disease caused by loss-of-function mutations in

123 Gaucher's disease is a common genetic disease caused by mutations in the beta-glucocer

124 Cystic fibrosis (CF) is a major lethal genetic disease caused by mutations in the CF transmembr

125 Cystic fibrosis (CF) is a genetic disease caused by mutations in the CF transmembr

126 stic fibrosis (CF) is a multiorgan recessive genetic disease caused by mutations in the cystic fibros

127 Cystic fibrosis (CF) is a genetic disease caused by mutations in the gene encoding

128 Cystic fibrosis (CF) is a common genetic disease caused by mutations of the cystic fibros

129 Myotonic dystrophy Type 1 (DM1) is a rare genetic disease caused by the expansion of CTG trinucleo

130 e in Hutchinson-Gilford progeria syndrome, a genetic disease caused by the synthesis of an internally

131 at are low but sufficient to ameliorate some genetic diseases caused by heterozygous mutations or aut

132 hepatic porphyria comprises a group of rare genetic diseases caused by mutations in genes involved i

133 e therapy can be a promising method to treat genetic diseases caused by splicing errors, but the effi

134 erapeutics are a promising strategy to treat genetic diseases caused by the overexpression or aberran

135 a-1-antitrypsin (AAT) deficiency (AATD) is a genetic disease, caused by mutation of the AAT gene.

136 Tuberous sclerosis complex (TSC) is a rare genetic disease causing multisystem growth of benign tum

137 Spinal muscular atrophy (SMA) is a genetic disease characterized by atrophy of muscle and l

138 Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and

139 imary familial brain calcification (PFBC), a genetic disease characterized by cerebral calcium-phosph

140 Fanconi anemia (FA) is a rare genetic disease characterized by chromosomal instability

141 Fanconi anemia (FA) is a recessive genetic disease characterized by congenital abnormalitie

142 is deficient in Bloom syndrome (BS), a rare genetic disease characterized by genome instability, acc

143 ic leukoencephalopathy with cysts (MLC) is a genetic disease characterized by infantile onset white m

144 lfram syndrome is a rare autosomal recessive genetic disease characterized by insulin dependent diabe

145 ions, and myelokathexis (WHIM) syndrome is a genetic disease characterized by neutropenia, lymphopeni

146 Duchenne muscular dystrophy (DMD) is a genetic disease characterized by progressive muscle dege

147 enne muscular dystrophy (DMD) is an X-linked genetic disease characterized by progressive muscle wast

148 deficiency (C1-INH-HAE) is a rare inherited genetic disease characterized by recurrent swelling epis

149 ntegrin function, causes Kindler syndrome, a genetic disease characterized by skin fragility, photose

150 in human PDGFRB have been linked recently to genetic diseases characterized by connective tissue wast

151 y retinal degenerations encompass a group of genetic diseases characterized by extreme clinical varia

152 helicase Twinkle are linked to several rare genetic diseases characterized by mitochondrial defects.

153 lar dystrophies are a heterogeneous group of genetic diseases, characterized by progressive degenerat

154 lation matrices to compute environmental and genetic disease classifications and corresponding reliab

155 se terms, alternative anatomy, cell type and genetic disease classifications and workflow automation

156 an cause Fifth Finger Camptodactyly, a human genetic disease, completely disrupted its binding to bet

157 Genetic diseases constitute the most important cause for

158 ults demonstrate a unique mechanism of human genetic disease contributes to the etiology of a third o

159 The landscape suggests other genetic diseases could be ciliary including 3M syndrome.

160 People with the genetic disease cystic fibrosis (CF) often carry a delet

161 regulator (CFTR), which is defective in the genetic disease cystic fibrosis (CF), forms a gated path

162 an ATP-gated Cl(-) channel defective in the genetic disease cystic fibrosis (CF).

163 movement, causes the common life-shortening genetic disease cystic fibrosis (CF).

164 Dysfunctional CFTR causes the common lethal genetic disease cystic fibrosis.

165 base editors for the study and treatment of genetic diseases depends on the ability to deliver them

166 ormation for protein function annotation and genetic disease diagnoses.

167 Breast cancer is a heterogeneous genetic disease driven by the accumulation of individual

168 ntributed to our understanding of population genetics, disease ecology, longevity, endocrinology and

169 larger proportion of kidney cysts are due to genetic diseases (eg, HNF1B nephropathy, various ciliopa

170 compromise sulfide metabolism leading to the genetic disease ethylmalonic encephalopathy.

171 y assays can quickly screen for all of these genetic diseases, facilitating treatment, but combining

172 om patients affected with the age-associated genetic disease, facioscapulohumeral muscular dystrophy

173 ed with patients suffering from a rare human genetic disease, Fanconi anemia (FA), demonstrates the i

174 ment, but not cosegregation, of clinical and genetic disease features with transcriptional clusters.

175 re increasingly used to screen patients with genetic disease for pathogenic mutations, but prediction

176 axin (81-20) in human subjects caused by the genetic disease Friedreich's ataxia results in decreased

177 Cancer is a genetic disease fueled by somatic evolution.

178 he-dependent signaling in the context of the genetic disease heterogeneity has been difficult to inve

179 gnifies an important advance in the study of genetic disease in a patient-specific context.

180 h as these will further the understanding of genetic disease in general and diseases caused by variat

181 omatosis type 1 (NF1), a prominent inherited genetic disease in humans.

182 poradic colorectal cancer (CRC) is a somatic genetic disease in which pathogenesis is influenced by t

183 Cancer is widely recognized as a genetic disease in which somatic mutations are sequentia

184 se editing can be used for the correction of genetic diseases in adult animals.

185 e precise gene editing and the correction of genetic diseases in adult mammals.

186 he development of tools to study and correct genetic diseases in experimental systems, with the ultim

187 RISPR-Cas9 and organoid technology to repair genetic diseases in patient-derived tissues.

188 d explain the higher prevalence of recessive genetic diseases in recently settled regions of Quebec.

189 n inherited disorders, among the most common genetic diseases in the world, frequent in the Mediterra

190 database also records the incidence of rare genetic diseases in various populations, all in well-dis

191 Classic genetic diseases in which HLH is a typical and common ma

192 There are many other genetic diseases in which HLH is an infrequent complicat

193 onally, they can be due to rare metabolic or genetic diseases, in which the spinal cord involvement c

194 n promising therapeutic corrections for many genetic diseases including myotonic dystrophy (DM1).

195 homson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer.

196 expansions have been implicated in dozens of genetic diseases, including Huntington's Disease, Fragil

197 As defective PI conversion underlies human genetic diseases, including inherited myopathies, neurol

198 lds the promise of a potential cure for many genetic diseases, including TNBC; however, its clinical

199 Cardiac genetic disease is a likely etiology.

200 Widespread reversion of genetic disease is rare; however, such events are partic

201 One of the most common human genetic diseases is autosomal dominant polycystic kidney

202 cept of orphan drugs for treatment of orphan genetic diseases is perceived enthusiastically at presen

203 scular dystrophy (OPMD) is a rare late onset genetic disease leading to ptosis, dysphagia and proxima

204 Incontinentia pigmenti (IP) is a genetic disease leading to severe neurological symptoms,

205 ith various neurological diseases, including genetic diseases leading to dopamine and serotonin defic

206 Because these residues are mutated in genetic disease, lid displacement was hypothesized to be

207 clinical feature of ciliopathies, a group of genetic diseases linked to ciliary dysfunction, and gene

208 y, which may be relevant to slow-onset human genetic diseases linked to PRPF8 deficiency.

209 Inherited deficiency of TFP is a recessive genetic disease, manifesting in hypoketotic hypoglycemia

210 t can also serve as a relevant model for 250 genetic diseases, many metabolic and degenerative condit

211 reasing number of mutations underlying human genetic diseases map to genes encoding for tRNA modifica

212 cientific advances in the research fields of genetics, disease modelling, biomarkers, and therapeutic

213 Cystic fibrosis is a fatal genetic disease, most frequently caused by the retention

214 In genetic disease, multidomain proteins are often affected

215 Fanconi anemia (FA) is a genetic disease of bone marrow failure, cancer susceptib

216 Spinal muscular atrophy (SMA), a leading genetic disease of children and infants, is caused by mu

217 Ste24 diminish its activity, giving rise to genetic diseases of accelerated aging (progerias).

218 be a potential therapeutic target in several genetic diseases of immune deficiency affecting cytokine

219 therapy has proved efficacious for multiple genetic diseases of the hematopoietic system, but roughl

220 volar skin, consistent with its etiology in genetic diseases of the palms and soles.

221 l to cause extensive loss of heterozygosity, genetic disease, or cell death.

222 leic acid editing holds promise for treating genetic disease, particularly at the RNA level, where di

223 lements that play a pivotal role in multiple genetic diseases, population genetics applications, and

224 nt, tissue-specific genetic engineering, and genetic disease prediction will greatly benefit from thi

225 aplotypes may have clinical implications for genetic disease predispositions.

226 Rare genetic diseases preponderantly affect the nervous syste

227 ry hemorrhagic telangiectasia type 2, a rare genetic disease presenting hepatic vessel malformations.

228 he causes of similarities and differences in genetic disease prevalence among humans is central to un

229 link the gene, COL27A1, with a little-known genetic disease, previously thought to be rare and reces

230 nderstand mutations in sickle cell and other genetic diseases related to hemoglobin, while in Oxford,

231 potentially modifying the clinical course of genetic diseases, remains unknown.

232 tion and in one cell type at a time, complex genetic diseases require multiplexed gene perturbations

233 rovide essential knowledge for understanding genetic disease resistance as well as local adaptation t

234 e transferability of European ancestry-based genetic disease risk and polygenic scores, substantiatin

235 tation in their medical records of inherited genetic disease risk, including family history.

236 ting exceptions), suggesting that individual genetic disease risks are largely uncorrelated.

237 polycystic kidney disease, as well as in the genetic diseases short-rib thoracic dysplasia, Mohr-synd

238 ely manner for children and adults with rare genetic diseases shortens their "diagnostic odyssey," im

239 Although a blood genetic disease, sickle cell disease (SCD) leads to a ch

240 nt insertions have been known to cause human genetic disease since the 1980s, the scope of their cont

241 se represent a potential and often neglected genetic disease source, a true "iceberg under water."

242 into how DNA repair is related to individual genetics, disease status or progression and other enviro

243 e clonal expansions responsible for dominant genetic diseases such as Apert syndrome and achondroplas

244 factor for the initiation and progression of genetic diseases such as cancer.

245 er understanding of biological processes and genetic diseases such as cancer.

246 of exon skipping in clinical trials to treat genetic diseases such as Duchenne muscular dystrophy, we

247 the evolutionary persistence of devastating genetic diseases such as Huntington's disease (HD).

248 t and rapid DA screening for neuron-mediated genetic diseases such as Parkinson's disease.

249 leading to an increase in the prevalence of genetic diseases such as transverse hemimelia (TH), a co

250 genome sequencing provides to researchers of genetic diseases, such as cancer, a powerful tool to bet

251 diting holds clinical potential for treating genetic diseases, such as Duchenne muscular dystrophy (D

252 e mosaic mutations can cause a wide range of genetic disease syndromes and predispose carriers to can

253 al calcification of infancy (GACI) is a rare genetic disease that affects the circulatory system and

254 Oculodentodigital dysplasia (ODDD) is a rare genetic disease that affects the development of multiple

255 Alpha1-antitrypsin deficiency is a genetic disease that can affect both the lung and the li

256 Hypertrophic cardiomyopathy (HCM) is a genetic disease that causes thickening of the heart's ve

257 Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagn

258 tchinson-Gilford progeria syndrome (HGPS), a genetic disease that is associated with premature aging

259 Cri du chat syndrome (CDCS) is a rare genetic disease that is caused by a deletion in the shor

260 lar dystrophy (DMD) is an incurable X-linked genetic disease that is caused by a mutation in the dyst

261 syndrome (HGPS) is a rare autosomal dominant genetic disease that is caused by a silent mutation of t

262 nflammatory bowel disease (IBD) is a complex genetic disease that is instigated and amplified by the

263 ere Combined Immunodeficiency (SCID-X1) is a genetic disease that leaves newborns at high risk of ser

264 Tuberous Sclerosis Complex (TSC) is a rare genetic disease that manifests with early symptoms, incl

265 lates in Smith-Lemli-Opitz syndrome, a human genetic disease that phenocopies deficient Hedgehog sign

266 Cancer is a genetic disease that results from accumulation of unfavo

267 ctually suffer from an expanding spectrum of genetic diseases that can be complicated by the syndrome

268 ransplantation (HSCT) approaches for several genetic diseases that can be diagnosed at birth.

269 iferative disease resulting from 2 different genetic diseases that directly or indirectly cause CTLA-

270 kidney diseases (ADTKDs) are a group of rare genetic diseases that lead to kidney failure.

271 ecular definition of a growing number of new genetic diseases that reveal new concepts of immune regu

272 ion, if any, is unknown, but in at least one genetic disease, the progressive myoclonic epilepsy Lafo

273 gion in various cyclases have been linked to genetic diseases, the molecular details of their effects

274 individuals, and from 150 patients with rare genetic diseases; these will be available through the Eu

275 Regarding genetic diseases, three females (1.6 %) had familial ade

276 reat potential for the treatment of numerous genetic diseases, through either temporary RNA or perman

277 n factor and use recent discoveries in human genetic diseases to place specific proteins within their

278 tered the system by varying host or pathogen genetics, disease tolerance varied, as we would expect i

279 e and function of keratin filaments underlie genetic diseases typified by cellular fragility.

280 Our findings in the rare human genetic disease unravel a novel mechanism of DLX3 involv

281 development of congruent models of a single genetic disease using somatic cells from a common patien

282 OMIM# 246900) is an often prematurely lethal genetic disease usually caused by inactive or partially

283 Hereditary angioedema (HAE) is a rare genetic disease usually caused by mutation in the C1 inh

284 d promise for therapeutic correction of many genetic diseases via exon skipping, and the first AON-ba

285 tations of which are associated with several genetic diseases), was found to be important for perinuc

286 tein AIDA-1 and a rare, previously undefined genetic disease we term ANKS1B haploinsufficiency syndro

287 ill children receiving rWGS for diagnosis of genetic disease, we propose analysis of patient genetic

288 ting transcriptomics into the study of human genetic disease when DNA sequencing alone is not suffici

289 milial adenomatous polyposis is an inherited genetic disease, which is characterized by colorectal po

290 chment information can explain phenotypes of genetic diseases, which cannot be obtained by transcript

291 Our resource nominates genetic diseases whose severity may be modulated by oxyg

292 characterization of this splicing-associated genetic disease will facilitate diagnosis and treatment

293 in prenatal screening and early diagnosis of genetic disease will potentially allow for preemptive tr

294 Generalizing beyond the most tractable genetic diseases will require modulation of cell specifi

295 Lamin A/C (LMNA) cardiomyopathy is a genetic disease with a proclivity for ventricular arrhyt

296 ations in NFU1 and BOLA3 have been linked to genetic diseases with defects in mitochondrial Fe-S cent

297 ay to quantitatively detect a broad range of genetic diseases with high sensitivity.

298 de innovative treatments for genetic and non-genetic diseases, with the ability to auto-regulate expr

299 Interestingly, genetic diseases within the same pathway vary greatly, r

300 remature ageing and cancer propensity in the genetic diseases xeroderma pigmentosum, Cockayne syndrom