ライフサイエンスコーパス: genetic disease

1 and how these processes are dysregulated in genetic disease.

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

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

4 result in missing a substantial fraction of genetic disease.

5 terial pathogens and is deregulated in human genetic disease.

6 or both human population diversity and human genetic disease.

7 of the biology of CNVs in relation to human genetic disease.

8 predict or validate sensitive positions for genetic disease.

9 fits and value of genetic testing for ocular genetic disease.

10 to illuminate the pathophysiology of complex genetic disease.

11 unction and increasingly, the study of human genetic disease.

12 stics impacting on personalized medicine and genetic disease.

13 est in studies of human genome evolution and genetic disease.

14 regulation of an essential gene linked to a genetic disease.

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

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

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

18 ve been responsible for several instances of genetic disease.

19 minating the arrhythmic consequences of this genetic disease.

20 o statistically associate these effects with genetic disease.

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

22 a driving force behind genome evolution and genetic disease.

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

24 ntally influences evolution and incidence of genetic disease.

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

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

27 y understood organelles, where defects cause genetic diseases.

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

29 effective treatments for diverse acquired or genetic diseases.

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

31 major cause of morbidity and mortality among genetic diseases.

32 er pathogens, particularly viruses and other genetic diseases.

33 and diagnosis permit early detection of many genetic diseases.

34 evealed many susceptibility loci for complex genetic diseases.

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

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

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

38 ntisense oligonucleotides as a treatment for genetic diseases.

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

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

41 have been shown to cause a large fraction of genetic diseases.

42 ing mutations and to reduce the incidence of genetic diseases.

43 underlying one common molecular mechanism of genetic diseases.

44 method to study the pathogenesis of complex genetic diseases.

45 ost common and most complex of all inherited genetic diseases.

46 rategy in ATP8B1 deficiency as well as other genetic diseases.

47 tform that offers revolutionary solutions to genetic diseases.

48 to cells offers the potential to treat many genetic diseases.

49 in the population, fuel evolution and cause genetic diseases.

50 ive for clinical geneticists when diagnosing genetic diseases.

51 ract splice site signals contribute to human genetic diseases.

52 used by severe G6PD variants, but also other genetic diseases.

53 idemiological clues and prevention goals for genetic diseases.

54 y associated with the development of various genetic diseases.

55 ossible new therapeutic approaches for these genetic diseases.

56 development of Cas9-based therapies against genetic diseases.

57 ls and has potential for correction of human genetic diseases.

58 yhan disease, and are relevant to most other genetic diseases.

59 ecular diagnostics of cancer, infectious and genetic diseases.

60 redict candidate genes responsible for human genetic diseases.

61 restore full-length protein in a variety of genetic diseases.

62 of CNVs in the pathogenesis of complex human genetic diseases.

63 ably underlies a substantial number of human genetic diseases.

64 biae and to correct deleterious mutations in genetic diseases.

65 role in cancer, aging, and a number of rare genetic diseases.

66 nt to both developmental processes and human genetic diseases.

67 k of a diversified diet and inflammatory and genetic diseases.

68 acilitating safe and effective therapies for genetic diseases.

69 iseases may eventually be used to treat many genetic diseases.

70 the role of copy number variations (CNV) in genetic diseases.

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

72 quencing has revolutionized the diagnosis of genetic diseases.

73 xpressivity and environmental sensitivity of genetic diseases.

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

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

76 could be a potential therapeutic target for genetic diseases.

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

78 therefore advance the study and treatment of genetic diseases.

79 DSP mutations cause dentin genetic diseases.

80 innate immune response and the occurrence of genetic diseases.

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

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

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

84 standing of evolution and the development of genetic diseases.

85 ets, suggesting that host genes connected to genetic diseases affect virus replication.

86 This review proposes categorizing genetic diseases affecting the eyelids on rarity and whe

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

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

89 nd active mobile elements in humans, causing genetic disease and creating genomic diversity.

90 o genes not associated previously with human genetic disease and demonstrate how CNVs can exhibit com

91 n their sequences are a major contributor to genetic disease and disease susceptibility.

92 ur work demonstrates that ALL is more than a genetic disease and that epigenetics may uncover novel m

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

94 ats (STRs) are implicated in dozens of human genetic diseases and contribute significantly to genome

95 for in-field and point-of-care diagnosis of genetic diseases and for the detection of infectious age

96 ci play a role in the etiology of a range of genetic diseases and have been frequently utilized in fo

97 duced the incidence of untreatable childhood genetic diseases and improved the care of newborns.

98 d decay is associated with a number of other genetic diseases and is an important regulator of diseas

99 Several genetic diseases and most malignancies tend to be associ

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

101 or two mutated splice sites that cause human genetic diseases and successfully promotes splicing of a

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

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

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

105 stem in assaying the neurological effects of genetic diseases and therapies.

106 e mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals t

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

108 rome (NS) is among the most common Mendelian genetic diseases ( approximately 1/2,000 live births).

109 Prime examples of such a genetic disease are those classes of hypertrophic and di

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

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

112 A constellation of related genetic diseases are caused by defects in the telomere m

113 Gene therapy products for the treatment of genetic diseases are currently in clinical trials, and o

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

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

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

117 a (FA) is a recessive X-linked and autosomal genetic disease associated with bone marrow failure and

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

119 nflammatory conditions; the underpinnings of genetic diseases associated with aneurysm and dissection

120 herapeutic strategies, not only for managing genetic diseases associated with overactive inflammasome

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

122 nique approach for systematic integration of genetic disease associations, transcription factor bindi

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

124 Cancer is a genetic disease, but two patients rarely have identical

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

126 s reveal a distinct regulatory mechanism for genetic disease by disruption of an autoregulatory feedb

127 20 (57%) of 35 infants were diagnosed with a genetic disease by use of STATseq and three (9%) of 32 b

128 CNVs associated with human genetic disease can be either recurrent, with a common s

129 we found that the inheritance mode of human genetic diseases can be predicted using protein interact

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

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

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

133 nylketonuria (PKU) is an autosomal recessive genetic disease caused by defects in the phenylalanine h

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

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

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

137 Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the su

138 l anomalies type I (ICF1) syndrome is a rare genetic disease caused by mutations in DNA methyltransfe

139 Pseudoxanthoma elasticum (PXE), a rare genetic disease caused by mutations in the ABCC6 gene, i

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

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

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

143 Cystic fibrosis (CF) is a lethal genetic disease caused by mutations of the gene encoding

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

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

146 ives specially designed for the treatment of genetic diseases caused by nonsense mutations and posses

147 ch holds promise for patients suffering from genetic diseases caused by nonsense mutations.

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

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

150 Retinitis Pigmentosa (RP) is a hereditary genetic disease causing bilateral retinal degeneration.

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

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

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

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

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

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

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

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

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

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

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

162 Duchenne muscular dystrophy is a lethal genetic disease characterized by the loss of muscle inte

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

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

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

166 lar dystrophies are a group of heterogeneous genetic diseases characterized by progressive degenerati

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

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

169 Genetic diseases constitute the most important cause for

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

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

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

173 regulator (CFTR), which is defective in the genetic disease cystic fibrosis (CF).

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

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

176 on is the phenomenon whereby age of onset in genetic disease decreases in successive generations.

177 Genetic epilepsies and many other human genetic diseases display phenotypic heterogeneity, often

178 With intensified pediatric-like therapy and genetic disease dissection, the field of adult acute lym

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

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

181 agenic form of DNA repair may play a role in genetic disease, exon shuffling, and mammalian evolution

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

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

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

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

186 opia, or nearsightedness, is a common ocular genetic disease for which over 20 candidate genomic loci

187 Mitochondrial disorders are devastating genetic diseases for which efficacious therapies are sti

188 Therapy for no other group of genetic diseases has seen the progress that has been mad

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

190 SCs) is a promising therapeutic strategy for genetic diseases, HIV, and cancer.

191 Cancer has long been viewed as a genetic disease; however, epigenetic silencing as the re

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

193 tal phenotypes in animal models and underlie genetic disease in humans, whereas dysregulation and/or

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

195 rodysplasia ossificans progressiva is a rare genetic disease in which heterotopic ossifications appea

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

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

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

199 Diagnosis of most genetic diseases in neonatal and paediatric intensive ca

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

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

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

203 nome instability and has been linked to many genetic diseases, including Lynch syndrome.

204 component of NF-kappaB signaling, cause the genetic disease incontinentia pigmenti (IP).

205 Cardiac genetic disease is a likely etiology.

206 tions among parents of children with simplex genetic disease is more common than currently appreciate

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

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

209 Testing for ocular genetics diseases is becoming more available and success

210 However, for effective modelling of human genetic disease it is important to understand the extent

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

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

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

214 translational accuracy for the treatment of genetic diseases linked to nonsense mutations.

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

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

217 The study of genetic disease mechanisms relies mostly on targeted mou

218 t that HCN1-deficient mice may be a valuable genetic disease model for human SND.

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

220 bject of intense research, which is aided by genetic disease models.

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

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

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

224 to spinal muscular atrophy (SMA), a leading genetic disease of children and infants.

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

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

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

228 Genetic diseases often cluster in different ethnic group

229 Mosaic mutations can go unnoticed, underlie genetic disease or normal human variation, and may be tr

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

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

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

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

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

235 zation with broad applications in cancer and genetic disease research.

236 Fanconi anemia (FA) is a human recessive genetic disease resulting from inactivating mutations in

237 Fanconi anemia is a genetic disease resulting in bone marrow failure, birth

238 uring tumorogenesis and is defective in many genetic diseases (ribosomopathies).

239 tform concordance in different categories of genetic disease risk, person-hours spent curating candid

240 data, NGS is a valuable diagnostic tool for genetic disease risk.

241 es, and benefits of such screening for adult genetic disease risks.

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

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

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

245 This aberration is important to detect in genetic disease studies because it can result in imprint

246 nd retrieving links with previously reported genetic disease studies.

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

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

249 licated in the pathophysiology of a group of genetic diseases such as Diamond Blackfan Anemia which a

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

251 physiological functions of ECs and to treat genetic diseases such as those affecting blood factors.

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

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

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

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

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

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

258 The traditional view of cancer as a genetic disease that can successfully be treated with dr

259 er crystalline corneal dystrophy, which is a genetic disease that causes blindness.

260 Cancer is a genetic disease that develops through a series of somati

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

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

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

264 disease (ADPKD) is a common life-threatening genetic disease that leads to renal failure.

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

266 ous sclerosis complex (TSC) is a multisystem genetic disease that manifests with mental retardation,

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

268 ha-1 antitrypsin deficiency (AATD) is a rare genetic disease that results from mutations in the alpha

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

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

271 Muscular dystrophies are a group of genetic diseases that lead to muscle wasting and, in mos

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

273 l to recognize that even in the setting of a genetic disease, the B-cell/plasma cell tumor microenvir

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

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

276 y of the CNV landscape associated with human genetic disease, there still remain many unexplored ques

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

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

279 ants in NICU and PICU who are diagnosed with genetic diseases to improve outcomes.

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

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

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

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

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

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

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

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

288 ni anemia (FA) represents a paradigm of rare genetic diseases, where the quest for cause and cure has

289 Compared with genetic diseases which affect the eyelids, hereditary di

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

291 he future of treating inherited and acquired genetic diseases will be defined by our ability to intro

292 Fanconi anemia (FA) is a heterogenous genetic disease with a high risk of cancer.

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

294 Cancer is a genetic disease with frequent somatic DNA alterations.

295 and largely untreatable disorder to a common genetic disease with management strategies that permit r

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 beta-thalassemia, one of the most common genetic diseases worldwide, is caused by mutations in th

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