ライフサイエンスコーパス: causative gene

1 Gorlin syndrome, dependent on the underlying causative gene.

2 ecessive inheritance of mutations in a known causative gene.

3 families, firmly establishing TGFBR1 as the causative gene.

4 fter prior negative Sanger sequencing of the causative gene.

5 elies on the certainty that SMAD4 is not the causative gene.

6 er to refine the IBD1 locus and identify the causative gene.

7 g influenced by mutation position as well as causative gene.

8 ported clinical findings associated with the causative gene.

9 with anophthalmia and microphthalmia for new causative genes.

10 ys and were highly enriched in breast cancer-causative genes.

11 having limited or disputed evidence as LQTS-causative genes.

12 anism to dissect complex traits and identify causative genes.

13 undertaken to begin to evaluate potentially causative genes.

14 hen used single-gene mutants to identify the causative genes.

15 c paraplegias and lacking mutations in known causative genes.

16 no consensus has emerged regarding specific causative genes.

17 ranscription factors identified as major ASD causative genes.

18 e-genome mapping could ultimately define the causative genes.

19 fied 29 risk loci, implicating 215 potential causative genes.

20 sive inheritance and a unique composition of causative genes.

21 talian patients with U-HAE to identify novel causative genes.

22 ntified NPRL2 and NPRL3 as the top candidate-causative genes.

23 urodegenerative disorders with over 50 known causative genes.

24 halus have led to the identification of >100 causative genes.

25 heterogeneity, complicating the discovery of causative genes.

26 ociated phenotype is not distinct from other causative genes.

27 asia (A-T), we analyzed flies mutant for the causative gene A-T mutated (ATM).

28 ndrome of selected endocrine neoplasms whose causative gene, a suspected tumor suppressor, has been l

29 Known causative genes account for 70-80% of clinically diagnos

30 By studying brain phenotypes closer to causative gene action, larger gene effects are detectabl

31 a lysosomal storage disease, all 13 of NCL's causative genes affect endolysosomal function, and at le

32 We ranked the causative gene against all 2488 HPO annotated genes.

33 study investigates variants in a known LQTS-causative gene, AKAP9, for potential LQTS-type 1-modifyi

34 ited deaf-blindness with the majority of USH causative genes also involved in nonsyndromic recessive

35 blished to assist with identification of the causative gene and to provide a resource for vision rese

36 The causative gene and underlying pathophysiology are largel

37 es will complement the results of studies of causative genes and could enhance genetic based diagnosi

38 Identification of further causative genes and development of new models will furth

39 Eleven causative genes and four loci have been identified with

40 volved to include patterns on brain imaging, causative genes and most recently the molecular pathways

41 To uncover the causative genes and pathways involved in motor neuron dy

42 the paroxysmal dyskinesias, and study of the causative genes and proteins are leading to the emerging

43 In recent years, numerous causative genes and risk factors for amyotrophic lateral

44 , but they often do not identify the precise causative genes and sequence variants.

45 iously unknown hereditary spastic paraplegia causative genes and subtypes, we performed whole exome s

46 on the new mutations of known CMS genes, new causative genes and the treatment strategies for these i

47 D) risk loci have been mapped in humans, the causative genes and variants for T1D are largely unknown

48 We performed exome sequencing to uncover the causative gene, and functional experiments in the cell m

49 disorders are often associated with the same causative gene, and is challenging traditional classific

50 because the existing annotations of disease-causative genes are incomplete.

51 The causative genes are known for fewer than 40% of PCLD ind

52 reduced penetrance, and 7 desmosome-encoding causative genes are known.

53 f cases exhibit familial predisposition, but causative genes are not known in most families(2).

54 ic risk assessment is possible even when the causative genes are not known.

55 ents are typically large, and the underlying causative genes are unclear.

56 , in most instances of inherited disease the causative genes are widely-usually ubiquitously-expresse

57 that are well-powered to detect potentially causative genes, are less prone to discovering spurious

58 enotype and mutation analysis identified the causative gene as encoding a novel PDZ protein called wh

59 es and assist in the identification of novel causative genes as well as modifiers explaining the phen

60 gle nucleotide polymorphisms: the underlying causative genes, as well as the molecular bases by which

61 tudies suggest that proteins encoded by USH2 causative genes assemble into the ankle link complex (AL

62 NKX2-5 is a key causative gene associated with cardiac birth defects, pr

63 for ANPEP, further implicating ANPEP as the causative gene at its locus.

64 s, which were previously suggested as likely causative genes at respective AMD susceptibility loci.

65 etic risk loci have been identified, but the causatives genes at these loci are largely unknown, so t

66 e analysis, we can now infer the most likely causative gene based on brain imaging and other clinical

67 To identify the causative gene, breakpoints in two female patients with

68 Remarkably, although the causative gene, BSCL2, has been known for several years,

69 We previously identified the causative gene but the function of the encoded protein r

70 ultimately lead to positional cloning of the causative genes, but this final step remains elusive at

71 A sulfotransferase was identified as the causative gene by using RNA interference knockdown and b

72 ens are highly efficient but identifying the causative gene can be a laborious task.

73 t certain phenotypic signatures of the major causative genes can be identified.

74 ontains at least three protective subregions/causative gene candidates, Idd5.1/Ctla4, Idd5.2/Slc11a1,

75 The identification of causative genes carries the promise of new and innovativ

76 patients, the likelihood for identifying the causative gene change may be as high as 30%.

77 Although the causative gene, COL3A1, was identified >20 years ago, th

78 Recently, the causative gene (CTNS) was identified and presumed to enc

79 and inherited neurologic diseases, where the causative gene defect or deletion has been identified.

80 s to narrow intervals overlapping with known causative genes, demonstrating the potential of diverse

81 of diseases with approximately 45 different causative genes described.

82 10(-17) replication), which tags a plausible causative gene, EIF3H.

83 The causative gene encodes tafazzin, a transacylase, which i

84 The discovery of causative genes encoding for ubiquitously expressed and

85 Four of these contain plausible causative genes (FGFR2, TNRC9, MAP3K1 and LSP1).

86 2 (PRRT2) has been identified as the single causative gene for a group of paroxysmal syndromes of in

87 In summary, WDR36 is a novel causative gene for adult-onset POAG at the GLC1G locus.

88 on, and digits strongly supporting BMP4 as a causative gene for AM, pituitary, and poly/syndactyly.

89 inding protein 43 (TDP-43) is a product of a causative gene for amyotrophic lateral sclerosis (ALS).

90 These results show that LIPH is a second causative gene for ARWH/hypotrichosis, giving rise to a

91 developing heart and, hence, is a candidate causative gene for atrial septal defects and cardiomyopa

92 Finally, the recent cloning of the causative gene for autoimmune polyglandular syndrome typ

93 epeat kinase 2) was recently identified as a causative gene for autosomal dominant Parkinson's diseas

94 The causative gene for axonal type CMT2E has been identified

95 oding riboflavin transporter RFVT2, as a new causative gene for Brown-Vialetto-Van Laere syndrome.

96 ase I (GTPCH) gene was isolated as the first causative gene for dopa-responsive dystonia (DRD).

97 Our study identified GABRA5 as a causative gene for early onset epileptic encephalopathy

98 The causative gene for FEO has been localized to a region of

99 This study aimed to identify the causative gene for HIV-1 associated nephropathy, a parad

100 so presents the possibility of being another causative gene for HS in humans.

101 The discovery of the causative gene for Huntington's disease (HD) has promote

102 3-bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with link

103 The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syn

104 at Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental di

105 gether, these findings identify CRIM1 as the causative gene for MACOM syndrome and emphasize the impo

106 von Hippel-Lindau disease gene (VHL) is the causative gene for most adult renal cancers.

107 is associated with mutations in WDR45, a new causative gene for neurodegeneration with brain iron acc

108 Defining the causative gene for non-Mendelian diseases is more diffic

109 Of these, the causative gene for only ARCI7 has not been identified, w

110 Myocilin, a causative gene for open angle glaucoma, encodes a secret

111 r the initial hypothesis that EYS is a major causative gene for recessive RP and emphasize the role o

112 four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder ch

113 eriod acceleration by deletion of MeCP2, the causative gene for Rett syndrome, despite shifted matura

114 muscle involvement, and establish TRIP4 as a causative gene for several congenital muscle diseases, i

115 lear zinc finger protein, ZNF335/NIF-1, as a causative gene for severe microcephaly, small somatic si

116 The validation of Csf3r as the causative gene for Sle2c2 and the further characterizati

117 ipartite motif protein related to MID-1, the causative gene for the human developmental disorder Opit

118 ions in several human populations, finding a causative gene for type 2 diabetes has remained elusive.

119 er unrelated families confirmed HPSE2 as the causative gene for UFS.

120 Whirlin is the causative gene for Usher syndrome type IID (USH2D), a co

121 Doublecortin (Dcx) is the causative gene for X-linked lissencephaly, which encodes

122 ation detection when there are many possible causative genes for a specific phenotype.

123 to genome-wide association scans to identify causative genes for African American diabetes.

124 cades, the elucidation of susceptibility and causative genes for Alzheimer disease as well as protein

125 ing different natural accessions to identify causative genes for distinct phenotypes represented by o

126 The causative genes for essential tremor (ET), one of the mo

127 -invasive prenatal sequencing for a panel of causative genes for frequent dominant monogenic diseases

128 Several causative genes for hereditary spastic paraplegia encode

129 amily genes (SHANK1, SHANK2, and SHANK3) are causative genes for idiopathic autism spectrum disorders

130 The identification of causative genes for many of the inherited degenerative d

131 Mutagenomics identified likely causative genes for many of the mutant lines analyzed fr

132 diagnosis and the aetiological variants and causative genes for more than half such disorders remain

133 Our findings provide the first evidence that causative genes for primary dystonia intersect in a comm

134 ly in kidney, we assessed their candidacy as causative genes for recessive dRTA in eight kindreds unl

135 erized in previous studies identified likely causative genes for the accumulation of zinc, manganese,

136 Microcephalin (MCPH1) is one of the causative genes for the autosomal recessive disorder, pr

137 c areas in which to focus the search for the causative genes for the features of this syndrome.

138 ts using traditional positional cloning, the causative genes for unsolved dystroglycanopathy cases ha

139 POMT1 and POMT2, two of the causative genes, form an active enzyme complex in the po

140 ve somatic mutations in the gene CTNNB1, but causative genes from germline and the underlying pathoph

141 Identifying genotype-phenotype links and causative genes from quantitative trait loci (QTL) is ch

142 Lis1, a causative gene, functions in an evolutionarily conserved

143 n two families with PTD, we identified a new causative gene, GNAL, with a nonsense mutation encoding

144 s or previous association studies suggests a causative gene harboring many genetic variants that are

145 Inherited forms of AF exist, but the causative gene has been defined only in a single family.

146 hat will assist in the identification of the causative gene has been established and is available for

147 The causative gene has been identified as survival motor neu

148 an associated enamel phenotype and whether a causative gene has been identified.

149 Although the identification of the causative gene has made detection of asymptomatic carrie

150 The discovery of the causative gene has revealed a spectrum of clinical pheno

151 a number of hereditary disorders for which a causative gene has yet to be identified.

152 ull and detailed knowledge of the individual causative genes has been elusive.

153 The identification of the causative genes has led to the generation of mouse model

154 However, cloning the causative genes has proved to be more difficult than det

155 pain is very rare but the identification of causative genes has yielded significant insights into pa

156 Causative genes have been identified associated with CCD

157 ociated with autosomal dominant CCM, and the causative genes have been identified for CCM1 and CCM2.

158 cal cases are genetically undefined, several causative genes have been identified that encode known o

159 neurodegenerative disease for which several causative genes have been identified.

160 n musculoskeletal birth defect for which few causative genes have been identified.

161 lex conditions have been discovered, but few causative genes have been identified.

162 d, and primary ciliary dyskinesia, for which causative genes have been previously identified.

163 Several causative genes have been shown to lead to pallido-pyram

164 The causative genes have implicated proteins with diverse fu

165 ears discoveries of novel (mainly recessive) causative genes have lent support to a predominantly col

166 mal investigation, implying that a number of causative genes have not yet been recognized.

167 PG has a substantial heritable component, no causative genes have yet been identified.

168 Semantic similarity can rank a causative gene highly within a gene list relative to pat

169 tic studies led to the identification of the causative gene, huntingtin.

170 (XLRP) is genetically heterogeneous with two causative genes identified, RPGR and RP2.

171 enetic loci on chromosomes 2p and 3q, but no causative genes identified.

172 More recently, PLA2G6 was identified as the causative gene in a subgroup of patients with autosomal

173 Only SPG4 has been identified as a causative gene in ADHSP.

174 p21.3, a position that rules out PPT2 as the causative gene in any of the NCLs at defined chromosomal

175 Here we describe identification of the causative gene in autosomal-dominant partial epilepsy wi

176 on in yeast lacking TAZ1, an ortholog of the causative gene in Barth syndrome, ameliorates mitochondr

177 esting the possible presence of at least one causative gene in each of the two regions.

178 e the whole interval to further identify the causative gene in future studies.

179 uced the potent silencing of huntingtin, the causative gene in Huntington's disease, reducing messeng

180 ADAMTSL4 is the most important known causative gene in isolated EL.

181 proaches, including: MUL, the product of the causative gene in Mulibrey Nanism syndrome; USP7 (HAUSP)

182 rmal phenotype, indicating that Wdr81 is the causative gene in nur5.

183 e exome sequencing was used to determine the causative gene in patients with B cell defects of unknow

184 ations in type II collagen (COL2A1), but the causative gene in SEMD is not known.

185 -based methods; SMAD4 can be excluded as the causative gene in the majority of our JPS cohort.

186 Since the identification of MECP2 as the causative gene in the majority of Rett Syndrome (RTT) ca

187 Finally, the causative gene in the myodystrophy (myd) mouse is a puta

188 The identification of the causative gene in this interval will be an important ste

189 The identification of the causative gene in this interval will be an important ste

190 We conclude that the spectrum of causative genes in extracellular matrix (ECM)-related my

191 , MAK and DHDDS, were not described as major causative genes in other populations.

192 Identification of causative genes in patients with U-HAE is valuable for u

193 ic low-frequency variants reveals putatively causative genes in restless legs syndrome.

194 ting have enabled the identification of some causative genes in the last years, such as PIEZO1, KCNN4

195 Identification and study of the causative genes in these families should provide additio

196 Potential causative genes include SLC4A7 and NEK10 on 3p and COX11

197 The identification of causative genes involved in the formation of the cerebra

198 However, the causative gene is unknown.

199 rited in an autosomal dominant manner, but a causative gene is yet to be ascertained.

200 ted individuals and identified NBEAL2 as the causative gene; it has no previously known function but

201 e has resulted in the identification of many causative genes, leading to the potential for the develo

202 Recently, the putative causative gene (LOC148738) encoding a protein designated

203 wo papers in this issue of Neuron identify a causative gene, LRRK2, for familial parkinsonism.

204 a Filipino adult-onset ataxia pedigree, the causative gene maps to 19q13, overlapping the SCA13 dise

205 The causative gene maps to the long arm of chromosome 15 but

206 rited muscle disease that is named after the causative gene, MEGF10.

207 ifferent FHM families showed that additional causative genes must reside in other regions of the geno

208 The causative gene (mutated HTT) is widely expressed outside

209 patches in the retina, and to determine the causative gene mutation and study the underlying mechani

210 ackaging a fragment of human mutant HTT, the causative gene mutation in Huntington's disease.

211 Causative gene mutation was determined by genomewide lin

212 nd an allelic test were used to identify the causative gene mutation.

213 nd DNA sequencing were used to determine the causative gene mutation.

214 Causative gene mutations (for example, NOTCH1, SMAD6) ar

215 toward the identification of the underlying causative gene mutations that affect the normal pathways

216 Using causative gene network inference to compare the genes re

217 Only one causative gene, NKX2-5, has been identified through gene

218 Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products

219 man VAMP-associated protein B (hVAPB) is the causative gene of a clinically diverse group of MNDs inc

220 lts indicate that ALS5/SPG11/KIAA1840 is the causative gene of a wide spectrum of clinical features,

221 in (VAMP)-Associated Protein B (VAPB) is the causative gene of amyotrophic lateral sclerosis 8 (ALS8)

222 est that KCTD10 could be considered as a new causative gene of congenital heart disease.

223 ATP2A2 has been identified as the causative gene of Darier's disease.

224 Presenilin-1 (PS1), the major causative gene of familial Alzheimer disease, regulates

225 se findings strongly suggest that Hpse2 is a causative gene of human UFS and further uncover unexpect

226 1 (AIPL1) gene was identified as the fourth causative gene of LCA.

227 2orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without

228 tein 2 (PRRT2) has been shown to be a common causative gene of PKD.

229 family of transcriptional activators, as the causative gene of postlingual, progressive, autosomal do

230 detected in POC1A in both patients, a known causative gene of SOFT syndrome, and confirmed using San

231 ted loss of function of Hoxc13, which is the causative gene of the ectodermal dysplasia 9 (ECTD9) in

232 The main causative gene of this disease - lissencephaly-1 (LIS1)

233 d that variants in prosaposin (PSAP), a rare causative gene of various types of lysosomal storage dis

234 may eventually lead to the discovery of the causative genes of common hereditary diseases and their

235 Positional cloning of additional causative genes of NPHP will elucidate further signaling

236 Over the past 15 years the causative genes of several inherited muscular dystrophie

237 USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gen

238 nherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPT

239 To isolate the causative gene, OPA3, we sequenced four genes within the

240 cies comparison strategy for identifying CRC causative gene or genomic alterations, we performed arra

241 This may indicate the presence of a common causative gene or, alternatively, a cluster of genes inv

242 of 11 subtypes (ARCI1-ARCI11) based on their causative genes or loci.

243 se boundaries of the MDS critical region and causative genes other than LIS1 have never been fully de

244 ted neurodegeneration after discovery of the causative gene, PANK2.

245 A causative gene, PCLD, was mapped to chromosome 19p13.2-1

246 In addition to the known causative genes PKD1 and PKD2, there are mutations that

247 e for mutations in the previously identified causative genes POLR3A and POLR3B.

248 within or immediately adjacent to candidate causative genes predicted to play significant roles in t

249 re we report that mutant huntingtin (Htt), a causative gene product of Huntington's diseases (HD) sel

250 ation HLA typing performed without PGD for a causative gene, providing couples with a realistic optio

251 Each subtype is associated with the known causative genes PRRT2, SLC2A1 and PNKD, respectively.

252 The median causative gene rank was 1 for the optimal and noise case

253 Thyroid cancer shows high heritability but causative genes remain largely unknown.

254 ally influences muscle mass differences, but causative genes remain largely unknown.

255 s syndrome suggests a genetic basis, but the causative genes remain largely unknown.

256 The causative gene remains controversial and the mechanism o

257 t disease linked to chromosome 4q35, but the causative gene remains controversial.

258 However, the causative gene remains unknown in 75% of families.

259 Microcephalin/MCPH1 is one of the causative genes responsible for the autosomal recessive

260 AD has over 25 causative genes/risk factors, with several of them linke

261 We uncovered a novel DBA causative gene, RPS29, and showed that germ-line mutatio

262 ense and protein truncating mutations of the causative gene RS1 (encoding retinoschisin) have been id

263 ense and protein-truncating mutations of the causative gene RS1 have now been identified and are thou

264 1.5-Mb interval on chromosome 6q23, but the causative gene(s) are not known.

265 gion' in distal 11q that contains a putative causative gene(s) for congenital heart disease.

266 ication of chromosome 6, suggesting that the causative gene(s) for TNDM is imprinted.

267 No causative gene(s) have been identified so far, resulting

268 o definitively establish the identity of the causative gene(s) in the region.

269 To identify the causative gene(s), exome sequencing was performed in a f

270 rdiomyopathy are not associated with a known causative gene, suggesting that further analysis into ca

271 n of CAG repeats in the coding region of the causative genes that are otherwise unrelated.

272 Despite the identification of some causative genes, the pathogenesis of ASD remains unclear

273 Despite the identification of causative genes, the pathogenesis of MHE remains unclear

274 We previously localized the causative gene to a 1.5-cM region on chromosome 2q33-37.

275 analysis of linkage we localize the putative causative gene to a 2.5-Mb segment of chromosome 1q23.2-

276 Positional cloning of nob identified the causative gene to encode ectonucleoside triphosphate/dip

277 ubject of several studies that localized the causative gene to Xq21.

278 esearch could also help to locate additional causative genes to aid the understanding of strabismus d

279 ndependent RNAi-based reporter assay and the causative gene trap integration site was identified usin

280 The two causative genes, TSC1 and TSC2, which code for hamartin

281 heterogeneity of TSC (which has at least two causative genes: TSC1 and TSC2), the large size of the T

282 e statistical power to test whether multiple causative genes underlie the same locus, prompting us to

283 metabolism and further implicate TM6SF2 as a causative gene underlying metabolic disease and trait as

284 We used forward genetics to identify the causative gene underlying this phenotype.

285 However, in these methods, causative genes underlying a quantitative trait locus, o

286 nteractions and the relatively few confirmed causative genes underlying QTL, recent developments in r

287 PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently re

288 e confirmed that the critical region for one causative gene was located on chromosome 5p15.

289 A potential causative gene was mapped at 11q13 ten years ago.

290 The critical interval containing the causative gene was narrowed to approximately 2 million b

291 To identify the causative gene, we performed homozygosity mapping using

292 To map the causative gene, we performed linkage analysis with micro

293 To identify putatively causative genes, we searched for highly significant muta

294 Causative genes were mapped by a genome-wide linkage ana

295 PD has several known causative genes, with one directly linked to retromer an

296 sortilin (SORT1) has been implicated as the causative gene within the locus, as sortilin regulates h

297 Further studies are needed to identify the causative gene within this locus.

298 providing a new general strategy to identify causative genes within GWA loci and to translate genetic

299 be due to linkage disequilibrium with other causative genes within the MHC region.

300 We reasoned that many of the causative genes within these loci influence height becau