ライフサイエンスコーパス: critical region

1 ubtracting all database SNPs from a mutant's critical region.

2 c evolution therefore must have crossed this critical region.

3 he mechanical properties of the bone in this critical region.

4 -802, and genes mapping to the Down syndrome critical region.

5 5 (MBD5), as the only locus that defined the critical region.

6 itial deletions overlapping the 7 Mb cardiac critical region.

7 of the four known genes residing within this critical region.

8 uplicated pseudogene in the cat eye syndrome critical region.

9 to analyze the functional landscape of this critical region.

10 s are controlled by one or two residues in a critical region.

11 nversion within the Williams-Beuren syndrome critical region.

12 AC contig representing a portion of the Xcat critical region.

13 that removes approximately 150 kb in the cdf critical region.

14 netic fluctuations associated with a quantum critical region.

15 peats (RERE) is located in the proximal 1p36 critical region.

16 onal activator protein Pur-alpha, within the critical region.

17 an atypical microdeletion that spans the PWS critical region.

18 antiferromagnetic metallic phase beyond the critical region.

19 llular immune responses on these potentially critical regions.

20 resented approximately 50% of the identified critical regions.

21 lated to the BOLD response in other language-critical regions.

22 clusters associated with the deafness locus critical regions.

23 nvestigated to identify the critical and non-critical regions.

24 on, significantly, more data are required in critical regions.

25 22q11.1 encompassing both IL17RA and cat eye critical region 1 (CECR1).

26 unctional interactions between Down syndrome critical region 1 (DSCR1) and amyloid-precursor protein

27 This study examines Nebula/Down syndrome critical region 1 (DSCR1) and amyloid-precursor protein

28 th factor-inducible 14 (Fn14), Down syndrome critical region 1 (Dscr1) and Nuclear receptor subfamily

29 The Down syndrome critical region 1 (DSCR1) gene is present in the region

30 The Down syndrome critical region 1 (DSCR1) gene, identified at the conser

31 Here, we show that Down syndrome critical region 1 (DSCR1) protein plays a key role in ad

32 One such inhibitor, Down Syndrome Critical Region 1 (DSCR1), functions in T cell activatio

33 DS critical region 1 (DSCR1), located on chromosome 21, is

34 l point in this cross-talk was Down syndrome critical region 1 (DSCR1).

35 that the calcineurin regulator Down syndrome critical region 1 protein modulates both basal neurite o

36 m the human beta-globin, mouse Down syndrome critical region 1, or hagfish coagulation factor X genes

37 o lacked the expression of DiGeorge syndrome critical region 14 (Dgcr14) in the IP.

38 DiGeorge syndrome critical region 2 (DGCR2) is located in the 22q11.2 locu

39 lelic series because (1) it spans the entire critical region, (2) the phenotypes correlate with embry

40 lyses including FISH confirmed a loss of the critical region 7q11.23, usually associated with the typ

41 The RNA-binding protein DiGeorge Critical Region 8 (DGCR8) and its partner nuclease Drosh

42 DiGeorge syndrome critical region 8 (DGCR8) is a critical component of the

43 DiGeorge Critical Region 8 (DGCR8) is a double-stranded RNA-bindi

44 Human DiGeorge Critical Region 8 (DGCR8) is an essential microRNA (miRN

45 onal deletion of Dicer and DiGeorge syndrome critical region 8 (Dgcr8) to dissect the roles of miRNAs

46 at MeCP2 binds directly to DiGeorge syndrome critical region 8 (DGCR8), a critical component of the n

47 We previously found that DiGeorge Critical Region 8 (DGCR8), an essential microRNA process

48 nactivate either Dicer1 or DiGeorge syndrome critical region 8 (Dgcr8), thus removing RPE miRNA regul

49 We confirmed the pronounced DiGeorge critical region 8 (Dgcr8)-dependent deficits in primary

50 ribonuclease-dependent but DiGeorge syndrome critical region 8 (DGCR8)-independent manner, suggesting

51 The two amplicons cover critical regions across the HIV-1 genome (including pol

52 3 lacking all lysine residues identified two critical regions: an amino-terminal tyrosine-containing

53 h ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have

54 ollowed by next-generation sequencing of the critical region and detected a large transposon-like DNA

55 PEP-19/PCP4 maps within the Down syndrome critical region and encodes a small, predominantly neuro

56 llowed us to precisely define a functionally critical region and should be generally applicable to ot

57 have been reported, making delineation of a critical region and subsequent identification of candida

58 to identify "functional candidates" within a critical region and to test their disease association, i

59 ations at 7q21, we refined the minimal SHFM1 critical region and used comparative genomics to select

60 osome 1 (SQSTM1/p62) maps to within the PDB3 critical region, and recent studies have identified a pr

61 , resulting in haploinsufficiency of the SMS critical region, and reimplicate homologous recombinatio

62 ning of seven candidate genes from the GLC1G critical region (approximately 2 Mb between D5S1466 and

63 nts; aligned microdeletions to determine the critical region; assessed effects on mRNA expression; an

64 l individuals with DWM, we defined the first critical region associated with DWM, encompassing two ad

65 brain, has been identified as one of several critical regions associated with the motor planning and

66 ning and co-immunoprecipitation, we define a critical region at the CASZ1 N terminus (AAs 23-40) that

67 om the other seven gD mutants revealed three critical regions at the gD-HveA interface.

68 ion studies with the promoter demonstrated a critical region between -1057 and -981 bp of the promote

69 assium channel and maps to the Down syndrome critical region between DIRK1A and DSCR4.

70 erlapping the previously defined cri du chat critical region but not including MRII and MRIII, produc

71 iRNA) biogenesis gene in the 22q11DS disease-critical region, causes age-dependent, synaptic SERCA2 o

72 ed gene located in the Prader-Willi syndrome critical region (chromosome 15q11-q13).

73 fic substitution of a single amino acid in a critical region completely changes the seeding specifici

74 22q11 genes, primarily in the 1.5-Mb minimal critical region consistently deleted in VCFS.

75 nts of this microdeletion, defining a 478-kb critical region containing six genes that were deleted i

76 inase 1 A (DYRK1A) maps to the Down syndrome critical region; copy number increase of this gene is th

77 sion profile of the Williams-Beuren syndrome critical region-deleted genes and the genome-wide transc

78 ponse, such as a member of the Down syndrome critical region (DSCR) family.

79 he centromeric boundary of the Down Syndrome Critical Region (DSCR) of HSA21.

80 nt scales with defects in the "Down syndrome critical region" (DSCR) in a dose-dependent manner.

81 The "Down syndrome critical region" (DSCR) is a chromosome 21 segment purpo

82 A small segment of Hsa21 known as the 'DS critical region' (DSCR) has been held to contain a gene

83 ture and function, as amino acids located in critical regions (e.g., alpha-beta interfaces and the 2,

84 GTF2IRD1 and GTF2I, located within this critical region, encode proteins of the TFII-I family wi

85 oses and confined to a 4.60-million basepair critical region encompassing 122 annotated genes.

86 ally overlap with Df1 and have defined a PPI critical region encompassing four genes.

87 involved in immune response located in this critical region, excluding the HLA complex genes.

88 These define a 3.5-Mb critical region extending from RP11-80B9 to RP11-241M7 t

89 Mutants included combinations of three critical regions (FIV numbering, with equivalent HIV num

90 Deletion mapping identified a 7-Mb critical region flanked by markers D13S1311 and D13S285.

91 Here we identify TSHZ3 as the critical region for a syndrome associated with heterozyg

92 av channels at the axonal initial segment, a critical region for action potential generation.

93 nucleus of the stria terminalis (BNST) is a critical region for alcohol/drug-induced negative affect

94 C-terminal cytoplasmic region of NaV1.7 as a critical region for channel function, potentially facili

95 l heart defects (CHD) to narrow the putative critical region for CHD to 474 kb containing six genes.

96 The critical region for childhood-onset obesity in the WAGR

97 DYRK1A is also located within the critical region for Down syndrome; therefore, understand

98 The critical region for EJM1 is delimited by obligate recomb

99 f the Rnt1p control elements, by modifying a critical region for enzyme binding to its hairpin substr

100 ith the right inferior frontal gyrus (IFG) a critical region for executive function.

101 s has demonstrated that the hippocampus is a critical region for forming and retrieving associations,

102 evidence of linkage lies within the minimum critical region for FTLD-U.

103 us to significantly decrease the size of the critical region for GPS from the previously reported 9.4

104 hared by seven integrin alpha-subunits, is a critical region for integrin binding to gp96.

105 sorder was discovered, we confirmed that the critical region for one causative gene was located on ch

106 These fossils show that China has been a critical region for peach evolution since long before hu

107 We are in the process of narrowing down the critical region for positional cloning of the Cia10 gene

108 Our results refine the critical region for Potocki-Lupski syndrome, provide inf

109 ce vascular plasticity in the hippocampus, a critical region for recall and recognition memory.

110 located within the four helix bundle core, a critical region for stabilizing dimer conformation and a

111 The VWFA is a critical region for testing hypotheses about the nature

112 The frontal eye field (FEF) is a critical region for the deployment of overt and covert s

113 e that the extreme C terminus of SNAP25 is a critical region for the Gbetagamma-SNARE interaction.

114 ed the central region of Abeta42 as the most critical region for the interaction, which can be inhibi

115 eletions on chromosome 15q have narrowed the critical region for this disorder to a 108 kb region tha

116 mediates homodimerization of ORF57, and the critical region for this function was mapped carefully t

117 locus encoding human SHROOM2 lies within the critical region for two distinct forms of ocular albinis

118 onary conserved non-coding sequences in this critical region for zebrafish enhancer assays.

119 yloid, suggesting that these may be the most critical regions for beta-amyloid effector action and fo

120 Core promoters are critical regions for gene regulation in higher eukaryote

121 degradation pathway for Aurora-B as well as critical regions for its clearance.

122 n the reverse transcriptase domain, the most critical regions for maturase activity include parts of

123 eported here should be useful in identifying critical regions for mitochondrial transfer between spec

124 lerate insertions, thus identifying these as critical regions for recombinase activity.

125 subtelomeric rearrangements has narrowed the critical regions for some chromosomal disorders.

126 ort lesion-deficit maps, displacing inferred critical regions from their true locations, in a manner

127 melanogaster homolog of human Down syndrome critical region gene 1 (DSCR1), nebula (also known as sa

128 Down syndrome critical region gene 6 (DSCR6), a RIPPLY family member t

129 DiGeorge syndrome critical region gene 8 (DGCR8) is the RNA-binding partne

130 e-specific inactivation of DiGeorge syndrome critical region gene 8 (DGCR8), an essential component o

131 As that are processed in a DiGeorge syndrome critical region gene 8 (Dgcr8)/Drosha-independent but Di

132 duces its interaction with DiGeorge syndrome critical region gene 8 and promotes its nuclear export a

133 roprocessor [Drosha-DGCR8 (DiGeorge syndrome critical region gene 8) complex] processing of primary m

134 ge precursors deficient of DiGeorge syndrome critical region gene 8, an RNA binding protein associate

135 erize the human DGCR8, the DiGeorge syndrome critical region gene 8, and its Drosophila melanogaster

136 that the positioning of N-linked glycans in critical regions has evolved to optimize the folding pro

137 RAI1 gene within the Smith-Magenis syndrome critical region have been reported in Smith-Magenis synd

138 candidates for the causal SNPs within these critical regions; however, the molecular pathogenesis of

139 Thus, although the prediction of the critical region hypothesis was disproved, novel gene dos

140 man chromosome 16 that we term the intestine-critical region (ICR) cause intractable congenital diarr

141 Analysis of the mouse genome for the lop11 critical region identified Hsf4 as a candidate gene.

142 We then sequenced all coding sequence in the critical region, identifying only a single cosegregating

143 h occurs within the putative oligomerization critical region, impairs the ability of gamma adducin to

144 Genetic haplotyping across the HSAN I critical region in 5 families and the sporadic case sugg

145 eries of chimaeras were generated to map the critical region in B56 down to a small C-terminal loop t

146 human genomic data because we could define a critical region in chromosome 2 encoding eight genes inc

147 Using targeted resequencing of the KWE critical region in five South African families and SNP a

148 Moreover, we identified a critical region in the transposase where the net charge

149 We identify a critical region in the TRPV1 C-terminal which mediates b

150 We highlight the critical region in titin-N2B that interacts with Fhl1 an

151 V2 region induces Ab responses targeting the critical region in V2 associated with protection.

152 that CRX, OTX2, and RORbeta can bind to the critical region in vitro, whereas ChIP experiments demon

153 s demonstrate binding of CRX and OTX2 to the critical region in vivo.

154 omparison of mouse and human tumours narrows critical regions in CNAs, thereby identifying candidate

155 Identification of CFA-critical regions in Kaposica guided experiments in which

156 eparan sulfate-binding protein and localizes critical regions in the AgRP structure required for this

157 studies that have documented methylation of critical regions in the genome in human cancers.

158 e complexes are very similar, differences in critical regions in the sequences of these proteins and

159 led a novel mutation within the "photoperiod critical" region in a subset of T. compactum accessions.

160 We identified an approximately 7 Mb 'cardiac critical region' in distal 11q that contains a putative

161 KWE was previously mapped to 8p23.1-p22 (KWE critical region) in South African families.

162 1.2, near the Prader-Willi/Angelman syndrome critical region, in 0.8% of affected individuals.

163 des of research have shown that the NAc is a critical region influencing addiction, mood, and food co

164 on-variant associations in thousands of less critical regions instead.

165 This critical region is methylated in noninsulated and inacti

166 However, when the critical region is returned to normal dosage in trisomic

167 Haplotype analysis confirms that the critical region is the 22-cM (311-Mb) interval flanked b

168 We have refined the MSSE critical region (<1 cM, <1 Mb) between the zinc-finger g

169 ng candidate gene loci for autism within the critical region may affect pathways influencing mitochon

170 These results indicate that PPC is a critical region mediating the subjective use of history

171 Within the critical region, mutation analysis of candidate genes LR

172 unaffected child with a recombination in the critical region, narrowed the region to an interval of 5

173 We mapped the catweasel mutation to a critical region of 13 Mb on chromosome 12 containing the

174 t genetic and clinical analysis identified a critical region of 15.55cM interval on chromosome 19p13.

175 erized by duplications of the multi-disorder critical region of 15q11-q14, is a relatively common cyt

176 e (n = 3) 100-200 kb duplications within the critical region of 1q21.1 in cases of TOF.

177 A critical region of 250 base pairs was identified contain

178 uced demixing increases upon approaching the critical region of a ternary lipid mixture, with qualita

179 The critical region of allele loss is 310 kb in size.

180 tructure, formed by residues 652-678, is the critical region of CBD for both TLRs and integrins.

181 gene is localized in the Down syndrome (DS) critical region of chromosome 21.

182 Dyrk1a localizes in the Down syndrome (DS) critical region of chromosome 21q22.2 and is a major can

183 Furthermore, this critical region of EC2 is flanked by two conserved cyste

184 These duplications defined a 300 kbp critical region of GLC1P that spans two genes (TBK1 and

185 We conclude that this critical region of HtrI alters the dark conformation of

186 two genes, DSCR1 and DYRK1A , lie within the critical region of human chromosome 21 and act synergist

187 nts suggest that the so-called Down syndrome critical region of human chromosome 21 is an important r

188 hreonine kinase encoded in the Down syndrome critical region of human chromosome 21.

189 ludes the mouse homolog of the Down syndrome critical region of human chromosome 21.

190 tstanding candidates when they mapped to the critical region of linkage in such a family.

191 lated as a candidate tumor suppressor from a critical region of loss in chromosome 5q14.1.

192 gnated as ARHGAP8, which is located within a critical region of loss-of-heterozygosity on chromosome

193 We now have mapped the critical region of ORF45 responsible for binding and act

194 We now have identified the critical region of ORF45 that is involved in RSK interac

195 blished a large backcross, which generated a critical region of seven genes from which only one gene

196 These data suggest that a critical region of Sil is required to mediate the presen

197 AI1) is among the 20 genes identified in the critical region of Smith-Magenis syndrome (SMS), a genom

198 ecially of the nonadiabatic effects, in this critical region of the Cl + H2 reaction, and suggests st

199 expression of the glutamate transporter in a critical region of the cortico-striatal addiction circui

200 ns 6 and 7 of the Nfat5 gene, which encode a critical region of the DNA-binding domain, gave rise to

201 of a voltage-gated potassium (Kv) channel, a critical region of the Kv voltage sensor, forms in the v

202 ila pair-rule gene Odd Oz (Odz4) maps to the critical region of the l7Rn3 locus on mouse chromosome 7

203 g homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between mark

204 We define an additional critical region of the N terminus of LapA required for L

205 itor selectively binds at an architecturally critical region of the protein.

206 that perturb the environment of Trp37beta, a critical region of the quaternary-T alpha1beta2 interfac

207 e effects of exposure to (56)Fe particles in critical regions of brain involved in cognitive function

208 mediated by the intimate contact with three critical regions of calpastatin.

209 uses structural changes between cTnC and two critical regions of cardiac muscle troponin I (cTnI): th

210 The results identify critical regions of CooA and indicate features that dist

211 mice with mice carrying lox-p sites flanking critical regions of fgfr1 and/or fgfr2.

212 ved synteny, many of which are shared across critical regions of identified quantitative trait loci (

213 s to their respective targets and identified critical regions of interaction.

214 holog for this gene lies in proximity to the critical regions of Meckel-Gruber syndrome 2 (MKS2) and

215 d bilateral biodistribution of rhBeta-Gal to critical regions of pathology in a mouse model of GM1 ga

216 d bilateral biodistribution of rhbeta-gal to critical regions of pathology in a mouse model of GM1 ga

217 f PECAM-1 in this complex, we determined the critical regions of PECAM-1 involved in this interaction

218 itutes an important approach for identifying critical regions of proteins, studying structure-functio

219 polynomial time algorithm for computing the critical regions of recurrent deletions.

220 and 58 of the inversions intersect with the critical regions of recurrent microdeletion and microdup

221 ce of antibiotics which bind to functionally critical regions of rRNAs.

222 tekeeper residues control the flexibility of critical regions of S6, that in turn regulates the delic

223 cross-links and oxidations of amino acids in critical regions of the beta-globin chain (eg, Trp15, Cy

224 e highly connected nodes may not be the most critical regions of the brain network, and it is unclear

225 icant differential, neurochemical changes in critical regions of the brain, such as hippocampus, stri

226 the functioning of neuronal communication in critical regions of the brain.

227 However, identification of the critical regions of the extensions mediating protein ass

228 nome indicates that dCn runs are enriched in critical regions of the genome (promoters, UTRs, and int

229 uring myeloid differentiation and identifies critical regions of the genome and transcription factor

230 Nine of the ten mutations map to critical regions of the kinase domain and were predicted

231 Critical regions of the maturase were identified by stat

232 mito-specific interactions with functionally critical regions of the mitoribosome.

233 The mutations are in critical regions of the preproinsulin molecule, and we p

234 le linkage that is tolerated in functionally critical regions of the sgRNA and allows efficient DNA c

235 ibited higher wild-type sequence identity in critical regions of the structure, and the wild-type seq

236 ultimately prove invaluable for pinpointing critical regions of the vast non-protein-coding genome.

237 volutionary mechanisms of EAV and identified critical regions of the viral genome likely associated w

238 The studies reveal the critical regions of the YidC protein and provide insight

239 clones that form a gapped contig across the critical region on chromosome 15q11-q14 and 21 control c

240 etaPP (hAbetaPP) gene from the Down syndrome critical region on chromosome 21.

241 ix GeneChip Mapping 10K Array defined a 7-Mb critical region on chromosome 2q31, which led to candida

242 anslocation, allowed delineation of a 1.1-Mb critical region on chromosome 5 for the gene mutated in

243 he deletions revealed a approximately 350 kb critical region on chromosome 6q16.1 that encompasses a

244 -sensitive, sex-reversal, adrenal hypoplasia-critical region on chromosome X protein , NOTCH1, and ne

245 e-sensitive sex reversal, adrenal hypoplasia critical region on chromosome X), and importantly harbor

246 The phenotype was confined to a critical region on mouse chromosome 17, and then ascribe

247 The phenotype was confined to a critical region on mouse chromosome 18 and then ascribed

248 An approximately 19 Mb critical region on X chromosome was identified through i

249 e-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1 and melanocorti

250 e-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1 messenger RNAs

251 is trisomic for 33 genes (the "Down syndrome critical region" or DSCR) hypothesized to be responsible

252 that a boundary element lying within the PWS critical region prevents UBE3A-ATS expression in non-neu

253 ding domain protein DGCR8 (DiGeorge syndrome critical region protein 8).

254 distal to the Prader-Willi/Angelman syndrome critical region (PWACR).

255 ) promoter and the LAT enhancer/reactivation critical region (rcr) are enriched in acetyl histone H3

256 g deletions involving 2q37.3 that refine the critical region, reducing the candidate genes from >20 t

257 aking, the evidence is contradictory and the critical region remains unclear.

258 chitecture of a receptor and to identify the critical regions required for biological activity in a s

259 ilies and are generally accepted to describe critical regions required for protein stability and/or f

260 However, the gene or genes within the ~1 Mb critical region responsible for each of the associated p

261 These results provide evidence of a critical, region-specific role for ERK signaling in the

262 alysis of the 7 strains identified a minimal critical region sufficient to cause CHD when present in

263 tuations play a dominant part in the quantum critical region surrounding the transition point, where

264 We show that the critical region that differentiates ILS from MDS at the

265 centered on chromosome 4 at 4q35.1-q35.2, a critical region that does not contain any of the previou

266 N-terminally revealed a second functionally critical region that spans residues 9-17.

267 and VQIVYK (311) are the major, if not sole, critical regions that directly mediate intermolecular co

268 33 trisomic genes in Ts1Rhr represent a "DS critical region" that was once predicted to be sufficien

269 2, P-element and SNP mapping reduced the Ocd critical region to <100 kb and to six candidate genes: h

270 We narrow the critical region to a 1.3-Mb genomic interval that contai

271 Haplotype analysis refined the critical region to a 1.8-cM (4.8-Mb) interval, flanked b

272 tion with distal 11q monosomy and refine the critical region to an approximately 9-Mb region distal t

273 le Minded 2 gene (SIM2) from Down's syndrome critical region to be specific to certain solid tumors.

274 cility 12 (nmf12), and mapping localized the critical region to Chromosome 2.

275 lated to its ability to rapidly recombine in critical regions under immune selection pressure.

276 ng within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome.

277 ine-rich insertions or substitutions in this critical region uniformly resulted in the budding of abn

278 fivefold pore, the HI loops surrounding this critical region vary significantly in amino acid sequenc

279 FH3972 (theta = 0.02; lod = 25.53), and the critical region was flanked by markers FH2226 and FH3972

280 in 93 women with Turner syndrome across the critical region was performed, using genotype data at 24

281 The critical region was refined, and candidate genes were sc

282 The sequence of the 2.2-Mb Xcat critical region was then analyzed for potential Xcat can

283 ed resequencing of 1000 genes located in the critical regions was performed in a representative cohor

284 itive nature of sequence flanking/in the WBS critical region (WBSCR), sequencing of the region is inc

285 ificial chromosome (BAC) derived from the S1-critical region were bred onto t haplotype backgrounds.

286 Genes included in the ADCME critical region were directly sequenced.

287 All nonsynonymous SNPs in this critical region were genotyped, yielding a highly signif

288 a heterozygous deletion of the syntenic SMS critical region, were observed in Rai1(+/-) mice.

289 ains the core genomic triplication of the DS critical region, which includes 3 copies of the Kcnj6 ge

290 he short arm of chromosome 4, called the WHS critical region (WHSC).

291 ditional genes in the Smith-Magenis syndrome critical region will help define the role they play in m

292 ve marine species being introduced into this critical region will increase unless policy and manageme

293 ism (SNP) and microsatellite markers in this critical region, with LD peaking in the BRD2 (RING3) gen

294 A critical region within the alpha domain was identified u

295 Knowledge of the structure of this critical region within the complex will enhance efforts

296 s of a cysteineless TRPV1 channel revealed a critical region within which any cysteine introduced phe

297 Endonucleases that can target and cleave critical regions within latent viral genomes are current

298 provide the first mechanistic insights into critical regions within the SBD of mtHsp70s regulating i

299 We identify critical regions within these molecules that require rib

300 otypes that are caused by deletion of the WS critical region (WSCR).