ライフサイエンスコーパス: genetic disorder

1 le cell disease (SCD), a prevalent hemolytic genetic disorder.

2 participating institutes because of presumed genetic disorder.

3 Prader-Willi syndrome, a neurodevelopmental genetic disorder.

4 hallenge to identify driver genes among this genetic disorder.

5 to improve our understanding of this complex genetic disorder.

6 ofibromatosis type 1 is a tumor-predisposing genetic disorder.

7 can sometimes be the first noted sign of the genetic disorder.

8 gene itself cause hemochromatosis, a common genetic disorder.

9 unrelated families suggested an unrecognized genetic disorder.

10 morbidity and mortality associated with this genetic disorder.

11 s phenomics analyses in highly heterogeneous genetic disorders.

12 to create nonhuman primate models for human genetic disorders.

13 nsgenic animal models for the study of human genetic disorders.

14 viral inhibition phenotype and lipid storage genetic disorders.

15 fied but functional proteins for an array of genetic disorders.

16 nity for treating human diseases, especially genetic disorders.

17 se, alcohol or tobacco abuse, malignancy, or genetic disorders.

18 ve technology for discovering and diagnosing genetic disorders.

19 d developing treatments for a broad range of genetic disorders.

20 is breaking up into quanta of many different genetic disorders.

21 ed 169 trial reports of 80 treatments for 32 genetic disorders.

22 e profound implications in cancer, aging and genetic disorders.

23 the identification of genes that drive human genetic disorders.

24 als with cognitive outcomes in patients with genetic disorders.

25 contributors to an important class of human genetic disorders.

26 nts, STATseq had a high rate of diagnosis of genetic disorders.

27 s essential to understanding the etiology of genetic disorders.

28 eterozygous, and homozygous beta thalassemia genetic disorders.

29 holds immense potential to treat a range of genetic disorders.

30 trophy, which is among the most common human genetic disorders.

31 forms appropriate management of these common genetic disorders.

32 ic data can accelerate the discovery of rare genetic disorders.

33 ar diagnostic test for individuals with rare genetic disorders.

34 ogical tool and disease model for a range of genetic disorders.

35 disease is a fundamental goal for all human genetic disorders.

36 -causing mutations has been observed in some genetic disorders.

37 common types of genetic variation in complex genetic disorders.

38 to look for candidate genes responsible for genetic disorders.

39 promise for the treatment of a wide range of genetic disorders.

40 nostic evaluation of patients with suspected genetic disorders.

41 f nonsyndromic hearing loss (NSHL) and other genetic disorders.

42 e cards and used to screen for metabolic and genetic disorders.

43 commonly used for researching the causes of genetic disorders.

44 with neuronally restricted symptoms of REEP1 genetic disorders.

45 and viral infections, tumor metastasis, and genetic disorders.

46 Ca2+ signaling and link these genes to human genetic disorders.

47 f nonsense suppression for treatment of rare genetic disorders.

48 n, but these mutagenic events can also cause genetic disorders.

49 cally ill infants who were suspected to have genetic disorders.

50 including multidrug-resistant infections and genetic disorders.

51 and hypercholesterolemia, or can result from genetic disorders.

52 e Ca2+ genes were mapped to their associated genetic disorders.

53 es or hypercholesterolemia, and with certain genetic disorders.

54 in the development of cancers and many human genetic disorders.

55 f unknown cause and encompassing 13 distinct genetic disorders.

56 sponsible, when defective, for several human genetic disorders.

57 e decades, even for the most well-understood genetic disorders.

58 application of modern genomics is diagnosing genetic disorders.

59 e ABL1 changes have not been associated with genetic disorders.

60 ndividuals recruited for various undiagnosed genetic disorders.

61 of which (PRKAR1A) presents mutations in two genetic disorders: acrodysostosis and Carney complex.

62 Because some genetic disorders affect distinct cell lineages, researc

63 Bardet-Biedl syndrome (BBS) is a genetic disorder affecting multiple systems and organs i

64 kle cell disease (SCD) is a life-threatening genetic disorder affecting nearly 100,000 individuals in

65 Genetic disorders affecting biogenesis and transport of

66 and adenosine signalling systems, as well as genetic disorders affecting cardiac conduction and neuro

67 ies are being developed for human trials for genetic disorders affecting platelets.

68 rited retinal disease (IRD) is a category of genetic disorders affecting retina.

69 imperfecta (AI) is a heterogeneous group of genetic disorders affecting tooth enamel.

70 e considered particularly vulnerable in this genetic disorder and their dysfunction and loss cause pr

71 aracteristic of representative mitochondrial genetic disorders and also those identified in various c

72 rse genetics in mutational analysis of human genetic disorders and attests to the need for a careful

73 erent genes and has been implicated in human genetic disorders and cancer.

74 growth control and is associated with human genetic disorders and cancer.

75 ng RNA (lncRNA) has been implicated in human genetic disorders and cancer.

76 Genetic disorders and congenital anomalies are the leadi

77 ent of predictive biomarkers associated with genetic disorders and diseases.

78 Recently, through studies of genetic disorders and genome-wide analyses, many structu

79 and have been used to treat human inherited genetic disorders and hematologic malignancies with prom

80 In particular, artists have often portrayed genetic disorders and malformations in their work.

81 duplications or palindromes are linked with genetic disorders and malignant transformation.

82 rious consequences-cancer, immunodeficiency, genetic disorders and premature aging.

83 reciation of the roles of splice isoforms in genetic disorders and suggest that dissection of the fun

84 n (AAT) deficiency is one of the most common genetic disorders and the liver disease due to the Z mut

85 ng for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, we

86 %) presented with previously cataloged human genetic disorders and/or defined CNV hot spots in epilep

87 se, history of malignancy, family history of genetic disorders, and international travel.

88 of human diseases, including cancer and many genetic disorders, and may represent a target for therap

89 s, for example, for the treatment of cancer, genetic disorders, and viral infections.

90 telomerase reverse transcriptase, these rare genetic disorders are associated with an impaired telome

91 udy of macrophage-specific function in human genetic disorders as well as molecular studies of human

92 Ogden syndrome was the first reported human genetic disorder associated with a mutation in an N-term

93 trisomy of chromosome 21, is the most common genetic disorder associated with autoimmune diseases.

94 Fanconi anemia (FA) is a genetic disorder associated with bone marrow (BM) failur

95 on in mouse models of Fanconi anemia (FA), a genetic disorder associated with bone marrow failure and

96 Cystic fibrosis (CF) is a fatal genetic disorder associated with defective hydration of

97 SQTS is a rare genetic disorder associated with life-threatening arrhyt

98 hypercholesterolemia (FH) is the most common genetic disorder associated with premature atherosclerot

99 omal dominant polycystic kidney disease is a genetic disorder associated with substantial variability

100 The ichthyoses are rare genetic disorders associated with generalized scaling, e

101 or syndrome (PHTS) comprises a collection of genetic disorders associated with germline mutations in

102 blocking the IFN pathway can mitigate human genetic disorders associated with PERK deficiency and he

103 Ataxia-telangiectasia is a recessive genetic disorder (ATM is the mutated gene) of childhood

104 of CL remodeling leads to the rare X-linked genetic disorder Barth syndrome, which shows disparities

105 TCs) is a potentially attractive therapy for genetic disorders, but a wide outcome variability has be

106 rearrangements and is implicated in numerous genetic disorders, but its detection in high-throughput

107 s therapeutic potential for the treatment of genetic disorders by directly correcting disease-causing

108 ld offer a novel therapeutic opportunity for genetic disorders by providing sustainable levels of the

109 These genetic disorders can affect a variety of organs includi

110 vidence that mutations associated with human genetic disorders can affect cis-regulatory elements to

111 Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel di

112 ondrial DNA deletions are prominent in human genetic disorders, cancer, and aging.

113 Friedreich's ataxia is an incurable genetic disorder caused by a mutant expansion of the tri

114 Fanconi anemia (FA) is a rare genetic disorder caused by defects in a DNA damage repai

115 anconi anemia (FA) is an autosomal recessive genetic disorder caused by defects in any of 15 FA genes

116 emann-Pick type C1 disease (NPC1) is a fatal genetic disorder caused by impaired intracellular choles

117 n, and patients with MEDNIK syndrome, a rare genetic disorder caused by lack of expression of the sig

118 uchenne muscular dystrophy (DMD) is a lethal genetic disorder caused by loss of functional dystrophin

119 stic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the gene encodin

120 son-Gilford progeria syndrome (HGPS), a rare genetic disorder caused by the prelamin A mutant progeri

121 ypertrophic cardiomyopathy (HCM) is a common genetic disorder caused mainly by mutations in sarcomeri

122 ey disease (ADPKD) is one of the most common genetic disorders caused by a single gene mutation.

123 henic syndromes (CMS) are a diverse group of genetic disorders caused by abnormal signal transmission

124 cell disease and beta-thalassemia are common genetic disorders caused by mutations in beta-globin, an

125 The term 'channelopathy' refers to human genetic disorders caused by mutations in genes encoding

126 ases include a group of maternally inherited genetic disorders caused by mutations in mtDNA.

127 ycosides have been proposed as therapies for genetic disorders caused by nonsense mutations, because

128 to restore functional protein production in genetic disorders caused by nonsense mutations, which ar

129 st isolation of nuclear receptor (NR) genes, genetic disorders caused by NR gene mutations were initi

130 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on

131 ymorphic ventricular tachycardia (CPVT) is a genetic disorder causing life-threatening arrhythmias wh

132 mozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised L

133 Prader-Willi syndrome (PWS) is a genetic disorder characterized by a variety of physiolog

134 Crigler-Najjar syndrome (CN) is a very rare genetic disorder characterized by an inability to conjug

135 Fanconi anemia (FA) is a rare genetic disorder characterized by an increased susceptib

136 BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular ab

137 Fanconi anemia (FA) is a genetic disorder characterized by congenital abnormaliti

138 z trigonocephaly C syndrome (OTCS) is a rare genetic disorder characterized by craniofacial anomalies

139 , ALPL mutations lead to hypophosphatasia, a genetic disorder characterized by defective bone and/or

140 roduplication syndrome is a newly identified genetic disorder characterized by duplications in the 17

141 ein (FMRP) cause fragile X syndrome (FXS), a genetic disorder characterized by intellectual disabilit

142 Spinal muscular atrophy (SMA) is a genetic disorder characterized by loss of motor neurons

143 Hypertrophic cardiomyopathy is a genetic disorder characterized by marked hypertrophy of

144 ich causes Neurofibromatosis type 1 (NF1), a genetic disorder characterized by multiple benign and ma

145 Tuberous sclerosis complex (TSC) is a genetic disorder characterized by seizures and tumor for

146 The familial chylomicronemia syndrome is a genetic disorder characterized by severe hypertriglyceri

147 oonan syndrome (NS) is an autosomal dominant genetic disorder characterized by short stature, craniof

148 Myotonic dystrophy type 2 (DM2) is a genetic disorder characterized by skeletal muscle sympto

149 sus syndrome (BPES) is an autosomal dominant genetic disorder characterized by small palpebral fissur

150 inant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the accumulation of ki

151 Schwannomatosis is a genetic disorder characterized by the occurrence of mult

152 e (GALC) cause Krabbe disease, a devastating genetic disorder characterized by widespread demyelinati

153 rs of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellula

154 the five human RecQ helicases are linked to genetic disorders characterized by genomic instability,

155 hemochromatosis is a heterogeneous group of genetic disorders characterized by parenchymal iron over

156 Polycystic kidney diseases (PKD) are genetic disorders characterized by progressive epithelia

157 Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short

158 tinually occur in genetic testing for ocular genetic disorders, clinicians must develop an understand

159 findings add USP18 deficiency to the list of genetic disorders collectively termed type I interferono

160 We propose that small animal models of genetic disorders combined with genome-wide RNAi screeni

161 ciated in the development of a mitochondrial genetic disorder, COXPD19.

162 Schizophrenia is a complex genetic disorder demonstrating considerable heritability

163 Genetic disorders disrupting vitamin B-6 metabolism have

164 Genetic disorders due to mitochondrial dysfunction are n

165 a subset of patients suffering from multiple genetic disorders due to nonsense mutations with a singl

166 with the potential to treat a broad range of genetic disorders due to nonsense mutations.

167 ion of some STRs was associated with various genetic disorders (e.g., the Huntington disease), and th

168 Craniometaphyseal dysplasia (CMD) is a rare genetic disorder encompassing hyperostosis of craniofaci

169 s (NMSCs), particularly in patients with the genetic disorder epidermodysplasia verruciformis (EV).

170 This genetic disorder exemplifies a recurring motif in neurod

171 n cause spinal muscular atrophy, the leading genetic disorder for infant mortality.

172 xome sequencing in families affected by rare genetic disorders has the potential to rapidly identify

173 Numerous genetic disorders have been associated with chronic prog

174 Sometimes genetic disorders have mystical significance; other time

175 Studies of human genetic disorders have traditionally followed a reductio

176 g research in our understanding of Mendelian genetic disorders, hematologic cancer biology, infectiou

177 lying etiology of intellectual disability in genetic disorders holds great promise for developing tar

178 levels and to a phenotype that resembles the genetic disorder ichthyosis vulgaris.

179 ical countries: It is now the most important genetic disorder in France, affecting one birth for ever

180 tathionine beta-synthase (CBS) deficiency, a genetic disorder in homocysteine (Hcy) metabolism in hum

181 Cockayne syndrome (CS) is a rare genetic disorder in which 80% of cases are caused by mut

182 Wilson's disease is a genetic disorder in which copper accumulates in the live

183 Myotonic dystrophy type 1 (DM1) is a genetic disorder in which dominant-active DM protein kin

184 systems are already being used to alleviate genetic disorders in animals and are likely to be employ

185 -like (CrkL) gene, is one of the most common genetic disorders in human subjects.

186 leterious mutations are common, causing many genetic disorders in humans and producing inbreeding dep

187 her highlight difficulties in modeling human genetic disorders in the mouse despite apparent conserva

188 matosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults

189 well as the mutations found in patients with genetic disorders, in an in vivo system.

190 biopharmaceuticals treat major metabolic or genetic disorders, including Alzheimer's, diabetes, hype

191 Many of the gene mutations found in genetic disorders, including cancer, result in premature

192 lity and is often associated with congenital genetic disorders, infertility, and cancers.

193 About 12% of human genetic disorders involve premature termination codons (

194 A promising therapeutic strategy for diverse genetic disorders involves transplantation of autologous

195 This genetic disorder is associated with variable degrees of

196 Recognizing genetic disorders is also an art form.

197 e number of trials in the field of cognitive genetic disorders is rapidly growing, but clinical impac

198 familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated

199 The genetic disorder Kabuki syndrome (KS) is characterized b

200 R1 (DDX11) gene are associated with a unique genetic disorder known as Warsaw breakage syndrome chara

201 COB occurs in a wide range of genetic disorders known as dystroglycanopathies, which a

202 t cause of a group of phenotypically diverse genetic disorders known as laminopathies, which have sym

203 he case with schizophrenia and other complex genetic disorders, larger sample sizes are needed to ide

204 Tuberous sclerosis complex is a genetic disorder leading to constitutive activation of m

205 gene mutated in familial cylindromatosis, a genetic disorder leading to the development of skin appe

206 tegrin regulator that is mutated in the rare genetic disorder, leukocyte adhesion deficiency type III

207 Kindlin-3 is mutated in the rare genetic disorder, leukocyte adhesion deficiency type III

208 ly, variation in microsatellites can lead to genetic disorders like Huntington's diseases.

209 ation for assessing diagnosis and therapy of genetic disorders linked to the deregulation of primary

210 Mutations in pericentrin cause the human genetic disorder Majewski/microcephalic osteodysplastic

211 itochondrial dysfunction, as seen in various genetic disorders manifesting as progressive glomerulosc

212 The mucopolysaccharidoses (MPS) are rare genetic disorders marked by severe somatic and neurologi

213 These genetic disorders may present at all ages, and therefore

214 A new genetic disorder might be treatable through consumption

215 Cystic fibrosis (CF) is a lethal genetic disorder most commonly caused by the F508del mut

216 frequent than in the subgroup with 'purely' genetic disorders (N = 28).

217 Alexander disease (AxD) is a primary genetic disorder of astrocytes caused by dominant mutati

218 males have red-green dichromacy, which is a genetic disorder of color vision where one type of cone

219 Prader-Willi syndrome (PWS), a genetic disorder of obesity, intellectual disability and

220 ossificans progressiva (FOP) is a disabling genetic disorder of progressive heterotopic ossification

221 eover, USP18 deficiency represents the first genetic disorder of PTS caused by dysregulation of the r

222 Scoliosis is a complex genetic disorder of the musculoskeletal system, characte

223 cted by early-onset neurodegeneration due to genetic disorders of DNA repair (Cockayne syndrome and x

224 Studies of genetic disorders of hearing have demonstrated a link be

225 management of rare microcytic anemias due to genetic disorders of iron metabolism and heme synthesis.

226 Genetic disorders of lymphocyte cytotoxicity predispose

227 a-thalassemia and sickle cell disease); rare genetic disorders of RBC production; and anemias associa

228 may offer a minimally invasive treatment for genetic disorders of the blood that can be achieved safe

229 at are statistically associated with complex genetic disorders of the CNS such as autism and schizoph

230 The study of genetic disorders of the skeleton can yield insights tha

231 tism spectrum disorders (ASD) are a group of genetic disorders often overlapping with other neurologi

232 al. discovered that PNH is in fact a complex genetic disorder orchestrated by many genetic alteration

233 ylalanine concentrations that occur with the genetic disorder phenylketonuria.

234 nancy data, SCC in situ, Marjolin ulcer, and genetic disorders predisposing to cSCC.

235 We have mapped in total 2587 genetic disorder-related SNPs from OMIM, 587 873 cancer-

236 However, the study of genetic disorders rendering individuals completely unabl

237 Over 100 human genetic disorders result from mutations in glycosylation

238 Fanconi anemia is a genetic disorder resulting from biallelic mutations in o

239 atosis type 2 (NF2) is an autosomal dominant genetic disorder resulting from germline mutations in th

240 Williams syndrome (WS), a genetic disorder resulting from hemizygous microdeletion

241 Neurofibromatosis type 1 (NF1) is a genetic disorder resulting from mutations in the NF1 tum

242 Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linke

243 Hypophosphatasia (HPP) is a rare genetic disorder resulting in variable alterations of bo

244 Genetic disorders resulting from defects in the adult gl

245 s in human RecQ4 give rise to three distinct genetic disorders (Rothmund-Thomson, RAPADILINO, and Bal

246 erns are consistent anatomical correlates of genetic disorders such as Down syndrome (DS) and autism

247 leading cause of pregnancy loss and several genetic disorders such as Down syndrome.

248 leading cause of pregnancy loss and several genetic disorders such as Down's syndrome.

249 mTORC1 pathway is found in cancer as well as genetic disorders such as tuberous sclerosis complex (TS

250 ng events do occur which have been linked to genetic disorders, such as several types of cancer and n

251 ted in cancers and certain cancer-associated genetic disorders, such as tuberous sclerosis complex (T

252 ated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Se

253 sfunction of cilia is associated with common genetic disorders termed ciliopathies.

254 ia are causative to a wide spectrum of human genetic disorders, termed ciliopathies.

255 Familial hypercholesterolemia is a genetic disorder that arises because of loss-of-function

256 Fanconi anemia is a rare genetic disorder that can lead to bone marrow failure, c

257 ha1-Antitrypsin deficiency (ATD) is a common genetic disorder that can lead to end-stage liver and lu

258 We focused on Usher syndrome, a devastating genetic disorder that causes blindness, balance disorder

259 lex hereditary spastic paraplegia (HSP) is a genetic disorder that causes lower limb spasticity and w

260 Duchenne muscular dystrophy (DMD) is a genetic disorder that causes progressive muscle weakness

261 ell carcinoma nevus syndrome (BCCNS), a rare genetic disorder that greatly increases the number of BC

262 n-Gilford progeria syndrome (HGPS) is a rare genetic disorder that is caused by a point mutation in t

263 aluated four patients with Pyle's disease, a genetic disorder that is characterized by cortical-bone

264 Hypertrophic cardiomyopathy (HCM) is a genetic disorder that is characterized by left ventricul

265 ined approach to identify and characterize a genetic disorder that leverages distantly related patien

266 Sickle cell disease (SCD) is a genetic disorder that poses a serious health threat in t

267 Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that results from a mutation in the TSC

268 Osteogenesis imperfecta (OI) is a genetic disorder that results in low bone mineral densit

269 yndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and

270 The hereditary progressive ataxias comprise genetic disorders that affect the cerebellum and its con

271 s well as clinically heterogeneous inherited genetic disorders that affect the peripheral nervous and

272 Ciliopathies are genetic disorders that are caused by dysfunctional cilia

273 Polycystic kidney diseases (PKDs) are genetic disorders that can cause renal failure and death

274 Cohesinopathies are human genetic disorders that include Cornelia de Lange syndrom

275 an disorders of the epigenetic machinery are genetic disorders that involve disruption of the various

276 promising therapeutic approach for dominant genetic disorders that involve gain-of-function mechanis

277 anel as associated with medically actionable genetic disorders that may be undiagnosed in adults.

278 Progeroid syndromes are rare genetic disorders that phenotypically resemble natural a

279 More than 100 rare human genetic disorders that result from deficiencies in the d

280 F) syndromes are a rare and diverse group of genetic disorders that ultimately result in the loss of

281 TFIIH harbors mutations in two rare genetic disorders, the cancer-prone xeroderma pigmentosu

282 ognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations i

283 preventing its widespread use for modelling genetic disorders through introducing disease-associated

284 on may contribute to the etiology of complex genetic disorders through its impact on genome integrity

285 For studies of complex genetic disorders, to maximize the power of hiPSC cohort

286 Associating these 1805 genes with human genetic disorders uncovered 1470 diseases with mutated '

287 potential of CRISPR/Cas9 in a diverse set of genetic disorders, we establish a pipeline that uses rea

288 Infants with extracardiac birth defects or genetic disorders were excluded.

289 For deceased infants (n = 81), genetic disorders were molecularly diagnosed in 39 (48.1

290 ping "activator drugs" for a large number of genetic disorders where mutations have disrupted protein

291 g-associated toxicities, and other metabolic/genetic disorders which interact in an environment modul

292 Rare genetic disorders, which can now be studied systematical

293 ertain family members give rise to inherited genetic disorders, while the aberrant expression or func

294 Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000

295 Bardet-Biedl syndrome (BBS) is a human genetic disorder with a spectrum of symptoms caused by p

296 ype 1 and type 2 are progressive multisystem genetic disorders with clinical and genetic features in

297 This phenotype resembles human genetic disorders with elevated activity of the sodium c

298 in MED12 are linked with a broad spectrum of genetic disorders with X-linked intellectual disability

299 s a common life-limiting autosomal recessive genetic disorder, with highest prevalence in Europe, Nor

300 h the most severe clinical phenotypes of the genetic disorder Xeroderma pigmentosum.