ライフサイエンスコーパス: causative gene

1 ecessive inheritance of mutations in a known causative gene.

2 families, firmly establishing TGFBR1 as the causative gene.

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

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

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

6 ported clinical findings associated with the causative gene.

7 Gorlin syndrome, dependent on the underlying causative gene.

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

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

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

11 urodegenerative disorders with over 50 known 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 no consensus has emerged regarding specific causative genes.

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

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

18 ociated phenotype is not distinct from other causative genes.

19 sive inheritance and a unique composition of causative genes.

20 with anophthalmia and microphthalmia for new causative genes.

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

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

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

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

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

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

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

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

29 The causative gene and underlying pathophysiology are largel

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

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

32 Eleven causative genes and four loci have been identified with

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

66 of diseases with approximately 45 different causative genes described.

67 10(-17) replication), which tags a plausible causative gene, EIF3H.

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

69 The discovery of causative genes encoding for ubiquitously expressed and

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

71 2 (PRRT2) has been identified as the single causative gene for a group of paroxysmal syndromes of in

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

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

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

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

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

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

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

79 The causative gene for axonal type CMT2E has been identified

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

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

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

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

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

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

86 3-bp deletion recently detected in DYT1, the causative gene for idiopathic torsion dystonia with link

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

108 Several causative genes for hereditary spastic paraplegia encode

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

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

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

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

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

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

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

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

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

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

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

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

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

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

123 The causative gene has been identified as survival motor neu

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

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

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

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

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

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

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

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

132 Causative genes have been identified associated with CCD

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

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

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

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

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

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

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

140 The causative genes have implicated proteins with diverse fu

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

179 Causative gene mutation was determined by genomewide lin

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

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

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

183 Using causative gene network inference to compare the genes re

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

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

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

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

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

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

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

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

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

193 1 (AIPL1) gene was identified as the fourth causative gene of LCA.

194 2orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

219 The causative gene remains controversial and the mechanism o

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

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

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

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

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

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

226 1.5-Mb interval on chromosome 6q23, but the causative gene(s) are not known.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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