ライフサイエンスコーパス: critical region

1 -802, and genes mapping to the Down syndrome critical region.

2 5 (MBD5), as the only locus that defined the critical region.

3 itial deletions overlapping the 7 Mb cardiac critical region.

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

5 uplicated pseudogene in the cat eye syndrome critical region.

6 to analyze the functional landscape of this critical region.

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

8 nversion within the Williams-Beuren syndrome critical region.

9 netic fluctuations associated with a quantum critical region.

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

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

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

13 q21)mat) involving the previously implicated critical region.

14 is the only gene located entirely inside the critical region.

15 all resulting p-values fall within a defined 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 ubtracting all database SNPs from a mutant's critical region.

20 c evolution therefore must have crossed this critical region.

21 resented approximately 50% of the identified critical regions.

22 clusters associated with the deafness locus critical regions.

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

24 llular immune responses on these potentially 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 The Down syndrome critical region 1 (DSCR1) gene is present in the region

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

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

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

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

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

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

35 omolog of the human Williams-Beuren syndrome critical region 11 (XWBSCR11), and further, show that it

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

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

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

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

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

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

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

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

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

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

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

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

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

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

50 3 lacking all lysine residues identified two critical regions: an amino-terminal tyrosine-containing

51 icant LD signal (ii) to rigorously bound the critical region and (iii) to identify the causal genetic

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

70 breakpoints upstream of the proposed minimal critical region but whose cells were reported to express

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 ssion of the snoRNAs in the proposed minimal critical region confers much or all of the phenotype of

75 22q11 genes, primarily in the 1.5-Mb minimal critical region consistently deleted in VCFS.

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

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

78 of the chromosomal breakpoint to the 1.0-cM critical region defined for another mouse autosomal rece

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

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

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

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

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

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

85 failure of interactions involving DNA of the critical region during follicle development.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

100 The critical region for EJM1 is delimited by obligate recomb

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

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

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

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

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

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

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

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

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

110 We suggest that the minimal critical region for PWS is approximately 121 kb within t

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

112 The locations of apoCaM and Ca(2+)-CaM at a critical region for RYR1-dihydropyridine receptor intera

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

114 This interval overlaps the critical region for the fourth genetic locus for Bardet-

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

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

117 The gene encoding IRF6 is located in the critical region for the Van der Woude syndrome (VWS; OMI

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

144 for efficient encapsidation that contained a critical region II sequence.

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

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

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

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

149 Using deletion constructs, the critical region in LRP that modulates APP processing was

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

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

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

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

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

155 associated with heterozygous deletions of a critical region in Xp22.31, from the 5' untranslated reg

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

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

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

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

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

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

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

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

164 1.2, near the Prader-Willi/Angelman syndrome critical region, in 0.8% of affected individuals.

165 This critical region is methylated in noninsulated and inacti

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

167 Interestingly, the majority of the critical region is syntenic to a region on human chromos

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

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

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

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

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

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

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

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

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

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

178 A critical region of 250 base pairs was identified contain

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

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

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

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

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

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

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

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

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

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

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

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

191 tase, whereas BACE2 was mapped to the Down's critical region of human chromosome 21.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

213 y (LOH) studies in CC identified a number of critical regions of deletions on 6p.

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

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

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

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

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

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

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

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

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

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

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

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

226 t appear to reflect functional motifs within critical regions of the enzymes.

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

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

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

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

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

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

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

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

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

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

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

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

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

245 2 glioblastoma cell line which involves both critical regions on chromosomes 10 and 19.

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

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

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

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

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

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

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

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

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

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

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

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

258 Sequencing of the critical region revealed a Txnip nonsense mutation in Hc

259 etions, we refined the minimal Smith-Magenis critical region (SMCR) to an approximately 1.1-Mb genomi

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

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

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

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

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

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

266 33 trisomic genes in Ts1Rhr represent a "DS critical region" that was once predicted to be sufficien

267 2, P-element and SNP mapping reduced the Ocd critical region to <100 kb and to six candidate genes: h

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

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

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

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

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

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

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

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

276 fetal role of genes located outside the mesd critical region using BAC transgenic complementation of

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

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

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

280 c or telomeric to 16q12.1, and the Blau gene critical region was refined to <3 cM, corresponding to a

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 Within this critical region we have identified JAM3, a member of the

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

287 ofile of known and putative genes within the critical region were determined using bioinformatics, cD

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

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

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

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

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

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

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

295 A critical region within the alpha domain was identified u

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

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

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

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

300 We identify critical regions within these molecules that require rib