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1 ons in hypermutable CpG regions across human chromosome 21.
2 231 supernumerary genes on the extra copy of chromosome 21.
3 d in rodent cells that contain part of human chromosome 21.
4 iated with a region on the long arm of human chromosome 21.
5 syndrome (DS) is caused by trisomy of human chromosome 21.
6 ly located TMPRSS2 and ERG gene sequences on chromosome 21.
7 n the Down syndrome critical region of human chromosome 21.
8 or nearly half of the genes located on human chromosome 21.
9 of megakaryocytic differentiation located on chromosome 21.
10 rthologs of about half of the genes on human chromosome 21.
11 a high density from a 2.5-Mb region of human chromosome 21.
12 f the Down syndrome critical region of human chromosome 21.
13 ondition caused by the triplication of human chromosome 21.
14 primer plex MARA to genotype SNPs from human chromosome 21.
15 in the Down syndrome (DS) critical region of chromosome 21.
16 gle-nucleotide polymorphisms (SNPs) on human chromosome 21.
17 atients with complex karyotypes and abnormal chromosome 21.
18 yloid precursor protein cleavage enzyme 2 on chromosome 21.
19 regulation of gene expression is specific to chromosome 21.
20 me number of the >300 genes encoded by human chromosome 21.
21 om complete or partial triplication of human chromosome 21.
22 ne from the Down syndrome critical region on chromosome 21.
23 diate 5' region flanking 38 mRNAs mapping to chromosome 21.
24 ported for meiosis II (MII) errors involving chromosome 21.
25 apped to the Down's critical region of human chromosome 21.
26 e superoxide dismutase gene, also located on chromosome 21.
27 finished sequence from five regions on human chromosome 21.
28 like influence of a small subset of genes on chromosome 21.
29 syndrome results from triplication of human chromosome 21.
30 inear YACs containing genomic DNA from human chromosome 21.
31 iotic recombination on the long arm of human chromosome 21.
32 ttributed to the presence of three copies of chromosome 21.
33 the Down syndrome 'critical region' of human chromosome 21.
34 e resulting from the presence of 3 copies of chromosome 21.
35 282 trios that include a child trisomic for chromosome 21.
36 ical and social costs, caused by trisomy for chromosome 21.
37 rome results from full or partial trisomy of chromosome 21.
38 tion are rapidly reversed upon silencing one chromosome 21.
39 eby generating subclones isogenic except for chromosome 21.
40 e pattern observed among normally disjoining chromosomes 21.
42 Detailed examination of two such clusters on chromosome 21 (21q22) and chromosome X (Xp11) reveals th
43 vealed a human genomic sequence derived from chromosome 21 (21q22) bearing significant homology to th
44 ne content of the finished sequence of human chromosome 21 (364 genes and putative genes) with the ge
46 on human chromosome 8 with the AML1 gene on chromosome 21 (AML1-ETO), is one of the most frequent cy
47 y complex sequence, longest contigs in human chromosome 21 and 22) by recursive segmentations at diff
48 to derive the pig homolog, and a fission of chromosome 21 and a pericentric inversion is needed to d
49 1A , lie within the critical region of human chromosome 21 and act synergistically to prevent nuclear
50 deficit of slightly deleterious variants on Chromosome 21 and decreased transcriptome-wide variation
51 that are specific to many genes assigned to chromosome 21 and do not directly measure the clinical p
52 21 chromosomal breakpoint identified AML1 on chromosome 21 and ETO (MTG8) on chromosome 8, and the re
53 s for generating complete transcript maps of chromosome 21 and for the entire human genome, and for d
54 n cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associate
56 d progenitors (MEPs) triggered by trisomy of chromosome 21 and is further enhanced by the somatic acq
57 tathionine beta-synthase (CBS) is located on chromosome 21 and is overexpressed in children with Down
58 f chromatin, is encoded by a gene located on chromosome 21 and is overexpressed in Down syndrome, one
59 The underlying gene, SYNJ1, maps to human chromosome 21 and is thus a candidate for involvement in
62 th Down syndrome, who carry an extra copy of chromosome 21 and overexpress APP several-fold in the br
63 r caused by full or partial trisomy of human chromosome 21 and presents with many clinical phenotypes
65 (DS) is caused by the triplication of human chromosome 21 and represents the most frequent genetic c
66 tein (CBF alpha), and PEBP2 alpha B) gene on chromosome 21 and the ETO (eight-twenty one, also called
67 binding transcription factor AML1 (RUNX1) on chromosome 21 and the ETO (MTG8) gene on chromosome 8, g
69 anslocation, which involves the AML1 gene on chromosome 21 and the ETO gene on chromosome 8, generate
70 e pathogenic role of trisomic genes on human chromosome 21 and the genotype-phenotype relationship st
71 syndrome is caused by an extra copy of human chromosome 21 and the resultant dosage-related overexpre
72 SCR1) gene is present in the region of human chromosome 21 and the syntenic region of mouse chromosom
75 normal transformed cutoff value of z = 3 for chromosome 21 and z = 3.95 for chromosomes 18 and 13.
78 n across the nonrepetitive portions of human chromosomes 21 and 22 and compared patterns of lysine 4
79 plying it to the finished sequences of human chromosomes 21 and 22 as well as by comparing the predic
80 the complete nonrepetitive sequence of human chromosomes 21 and 22 by combining chromatin immunopreci
81 ieved a richer view of the transcriptome for Chromosomes 21 and 22 by using high-density oligonucleot
82 To identify novel STAT5 targets, we searched chromosomes 21 and 22 for clusters of STAT5 binding site
86 used the complete genomic sequences of human chromosomes 21 and 22 to examine the properties of CpG i
88 tic genomes and chromosomes, including human chromosomes 21 and 22, Saccharomyces cerevisiae, Arabido
91 On the basis of previous observations in chromosomes 21 and 22, we hypothesize that there is a ti
92 ntially all nonrepetitive sequences on human chromosomes 21 and 22, we map the binding sites in vivo
97 inase 1A (DYRK1A) gene is localized in human chromosome 21, and its overexpression has been associate
98 yo-inositol cotransporter gene is located on chromosome 21, and myo-inositol affects neuronal surviva
99 of the four interferon receptors encoded on chromosome 21, and proposed that DS could be understood
102 arranges with 11q23, and the DNA sequence of chromosome 21 appears to be less susceptible than 22q11
105 Robertsonian translocations (ROBs) involving chromosome 21 are found in approximately 5% of patients
107 he male-only data subset (LOD = 2.99) and on chromosome 21 at 34 cM in the female-only data subset (L
109 There have been 28 genes identified in human chromosome 21 between TMPRSS2, whose orthologue is the m
110 are caused by the overexpression of genes on chromosome 21, but this hypothesis has not yet been asse
112 cence in situ hybridization for the autosome chromosome 21 (chromosome 21 point probes combined with
113 ected-sib-pair linkage method to analyze the chromosome 21 clinical and genetic data obtained on affe
115 he algorithms to a data set of SNPs on human chromosome 21, combining the information of coding and n
118 voring genetic linkage [LOD] = 2.4), whereas chromosome 21 contained markers with the strongest linka
119 We identified a 3-megabase region on human chromosome 21 containing 6 candidate genes associated wi
122 of the four interferon receptors encoded on chromosome 21, contributes to many of the clinical impac
125 coding MxA, MX1, is located in the region of chromosome 21 deleted as a consequence of fusion of TMPR
127 copy of the Abeta precursor protein gene on chromosome 21, Down syndrome (DS) individuals develop hi
129 rant folate metabolism secondary to genes on chromosome 21 (eg, cystathionine-beta-synthase, superoxi
130 Previously, we have shown that DYRK1A, a chromosome 21-encoded kinase implicated in the mental re
131 syndrome causes overexpression of miR-155, a chromosome 21-encoded microRNA that negatively regulates
132 ombination patterns were used to predict the chromosome 21 exchange patterns established during meios
134 ymorphic tetranucleotide repeat sequences on chromosome 21, four primer pairs for sequences on chromo
135 mouse models to improve our understanding of chromosome 21 gene dosage effects in human hematologic m
136 ased expression of the kinase encoded by the chromosome 21 gene DYRK1A suppresses the nuclear factor
137 rin activity by DSCR1, together with another chromosome 21 gene Dyrk1a, may be sufficient to markedly
138 dentate gyrus-CA3 networks to aberrant human chromosome 21 gene expression and delineate hippocampal
140 d researchers interested in the study of any chromosome 21 gene or ortholog, we are developing a comp
142 s for these genes plus nine additional novel chromosome 21 genes and four paralogous genes mapping el
143 aps with human DS-DM and shows that multiple chromosome 21 genes contribute to the downstream epigene
144 step pathogenesis of DS-AMKL and to identify chromosome 21 genes that promote megakaryoblastic leukem
147 gramming algorithm is applied to analyze the chromosome 21 haplotype data of Patil et al., who search
151 junction of material represented in human on chromosomes 21 (HSA 21) and 22 (HSA 22) that occurred in
152 rt disease (CHD); however, trisomy for human chromosome 21 (Hsa21) alone is insufficient to cause CHD
153 Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of
154 ed by the presence of an extra copy of human chromosome 21 (Hsa21) and is the most common genetic cau
155 Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and presents a complex phenotype t
156 from an extra copy of the long arm of human chromosome 21 (HSA21) and the increased expression of tr
157 nclear as to whether particular gene loci on chromosome 21 (HSA21) are sufficient to cause DS and its
159 temporally with increased expression of the chromosome 21 (HSA21) associated, oligodendrocyte transc
161 ionally trisomic for approximately 120 human chromosome 21 (HSA21) classical protein-coding genes.
163 creation of mice that carry different human chromosome 21 (Hsa21) fragments as a freely segregating
164 that trisomy for only 33 orthologs of human chromosome 21 (Hsa21) genes was sufficient to cooperate
165 rmatic annotation has established that human chromosome 21 (Hsa21) harbors five microRNA (miRNAs) gen
167 or orthologues of about half of the genes on chromosome 21 (Hsa21) in Ts65Dn mice or just 33 of these
172 ic stem cells (ESCs)) bearing an extra human chromosome 21 (HSA21)) we analyzed the early stages of h
173 has orthologues of about 50% of the genes on chromosome 21 (Hsa21), has indicated that three copies o
174 wn syndrome (DS), caused by trisomy of human chromosome 21 (Hsa21), is the most common cause of conge
175 are transcription factors, encoded on human chromosome 21 (Hsa21), that have been implicated in huma
176 (MMU16) shares conserved linkage with human chromosome 21 (HSA21), trisomy for which causes Down syn
181 LL) and an intrachromosomal amplification of chromosome 21 (iAMP21) comprise a novel and distinct bio
184 defined by intrachromosomal amplification of chromosome 21 (iAMP21), is restricted to older children
186 ntrachromosomal amplification of a region of chromosome 21 (iAMP21; three or more extra copies of RUN
187 f relapse (intrachromosomal amplification of chromosome 21 [iAMP21], 6.04, 3.90-9.35; t(9;22), 3.55,
188 ed in aneuploid mouse neurons carrying human chromosome-21, implicating promoter/enhancer sequence di
189 The human DYRK1A gene is located on trisomic chromosome 21 in Down syndrome (DS) patients, leading to
190 s a developmental disorder caused by a third chromosome 21 in humans (Trisomy 21), leading to neurolo
191 st a pathogenic role for splicing factors on chromosome 21 in neurodegenerative diseases with tangles
193 -rich basic protein (WRB), a gene located on chromosome 21 in the proposed region responsible for con
195 ible XIST transgene into the DYRK1A locus on chromosome 21, in Down's syndrome pluripotent stem cells
197 n the fetal DNA ratios for chromosome 13 and chromosome 21, indicative of trisomy 21; the remaining 5
199 alled Down syndrome critical region of human chromosome 21 is an important region for this phenotype,
201 e show that expression of genes localized to chromosome 21 is globally up-regulated in human fetal tr
202 Acute myeloid leukemia 1 (AML1) gene on chromosome 21 is involved in several chromosomal translo
203 homogeneous than yeast chromosome III, human chromosome 21 is more homogeneous than human chromosome
204 or more extra copies of RUNX1 on an abnormal chromosome 21) is a recently identified recurrent genomi
205 Down syndrome (DS), caused by trisomy of chromosome 21, is associated with immunological dysfunct
206 Down's syndrome candidate region interval on chromosome 21, is highly expressed in the heart and cent
207 DS critical region 1 (DSCR1), located on chromosome 21, is overexpressed in the brain of DS fetus
209 's syndrome (DS), caused by trisomy of human chromosome 21, is the most common genetic cause of intel
211 ved a duplication of the gene PDXK, which on chromosome 21 lies immediately distal to the KIAA0179 ge
213 ll analysis to show that increased dosage of chromosome 21-localized Dyrk1a steeply increases G1 cell
214 sitivity and higher transcript levels of the chromosome 21-localized gene, cystathionine-beta-synthas
215 AML patients by examining the expression of chromosome 21-localized genes in myeloblasts from newly
217 hybridization signals on the majority of the chromosome 21 markers, and cffDNA from a fetus with mono
219 Other factors, possibly including genes on chromosome 21, may increase the penetrance of type 1 dia
220 is Down syndrome (DS), where a third copy of chromosome 21 mediates neurogenesis defects and lowers t
223 rom 20 partially resequenced copies of human chromosome 21-more than 20,000 polymorphic sites-were an
224 fit the overall short-range data (0-5 kb) of chromosome 21 much better than do models including cross
226 n 83% of cases, and most frequently involved chromosomes 21 (n=42), 9 (n=21), 6 (n=16), 12 (n=11), 15
227 ouse nucleus, hundreds of locations on human chromosome 21 newly associate with activating histone mo
228 nation rate in these eggs with non-disjoined chromosomes 21; no specific chromosomes were driving thi
229 ns in Siberia together with the sequences of chromosome 21 of two Neanderthals from Spain and Croatia
232 es almost twice as far in chromosome 6 as in chromosomes 21 or 22, in agreement with their difference
233 e to cancer risk, tumour-suppressor genes on chromosome 21, or a slower rate of replication or higher
234 arry a duplication spanning the entire human chromosome 21 orthologous region on mouse chromosome 16
236 21 (chromosome 21 point probes combined with chromosome 21 "paint" probes), along with immunocytochem
238 in (AIRE), a transcription factor located on chromosome 21, plays a crucial role in autoimmunity by r
239 ybridization for the autosome chromosome 21 (chromosome 21 point probes combined with chromosome 21 "
240 ases, DS results from an extra copy of human chromosome 21 producing deregulated gene expression in b
241 close to 11q23 as does 22q11 during meiosis, chromosome 21 rarely rearranges with 11q23, and the DNA
244 determine whether an association does exist, chromosome 21 recombination patterns were examined in 40
245 ive clinical features associated with CNI of chromosome 21 reflect generalized aneuploidy and are not
246 10 region encoding pericentrin and the human chromosome 21 region encoding kendrin indicates that the
247 e nucleotide polymorphism (SNP) scans of the chromosome 21 region to define which of 6 possible candi
249 "Down syndrome critical region" (DSCR) is a chromosome 21 segment purported to contain genes respons
250 approximately 22.5 Mb of nonrepetitive human chromosome 21 sequence were synthesized and then hybridi
251 udy in this issue of Oncogene, defines human chromosome 21 sequences that alter hematopoiesis and ind
252 f childhood leukemias, and identification of chromosome 21 sequences that have a role in leukemogenes
253 recombination is significantly reduced along chromosome 21; several lines of evidence indicate that t
254 dentify a large fraction of all common human chromosome 21 SNPs and to directly observe the haplotype
255 ortholog, we are developing a comprehensive chromosome 21-specific database with the goals of (i) da
256 2.9 Mb duplication spanning the entire human chromosome 21 syntenic region on mouse chromosome 16 in
257 risomic for approximately 56.5% of the human chromosome 21 syntenic region on mouse chromosome 16.
261 istence of an activity associated with human chromosome 21 that permits the E1B-55K and E4orf6 protei
262 rt the presence of dosage-sensitive genes on chromosome 21 that regulate leukemogenesis and hematopoi
264 th mice derived from female passage of human chromosome 21, the chromatin condensation during spermat
265 reakthroughs, it is not clear which genes on chromosome 21, the chromosome that is trisomic in indivi
266 evant published datasets that included human Chromosome 21, the human lipoprotein lipase (LPL) gene l
269 rom an aneuploid mouse strain carrying human chromosome 21 to determine, on a chromosomal scale, whet
270 elogenous leukemia, joining the AML1 gene on chromosome 21, to the ETO gene on chromosome 8, forming
272 c for 132 genes homologous to genes on human chromosome 21, triplication of Usp16 reduces the self-re
273 er caused by the presence of three copies of chromosome 21 (trisomy 21), is characterized by impairme
274 sults from the presence of an extra maternal chromosome 21 (trisomy 21), which comprises the Kcnj6 ge
275 a model system that contains full trisomy of chromosome 21 (Ts21) in a human genome that enables norm
276 d other complex structural rearrangements of chromosome 21 underlie the mechanism giving rise to iAMP
277 en applied to >23,000 transcripts from human chromosome 21, using biologically reasonable filters, RC
279 mits an almost complete single copy of human chromosome 21 via the female germline, we show that a he
283 ical Alzheimer disease gene, APP, located on chromosome 21, was not found to be up-regulated in adult
284 and analysis of published haplotype data on chromosome 21, we find that (1) the combined effects of
288 ional hybrid cells bearing portions of human chromosome 21 were used to map this activity to a 10-meg
290 me is caused by a genomic imbalance of human chromosome 21 which is mainly observed as trisomy 21.
292 t for people with trisomy of the APP gene on chromosome 21, which is a phenotype long associated with
293 autoimmune regulator (AIRE) gene, located on chromosome 21, which regulates the expression of tissue-
294 Here we compare approximately 27 Mb of human chromosome 21 with chimpanzee DNA sequences identifying
295 ingle-minded 2 (SIM2) gene interval on human chromosome 21 with horse, cow, pig, dog, cat, and mouse
296 Comparison of approximately 9 Mb of human chromosome 21 with orangutan, rhesus macaque, and woolly
297 to gene dosage, of the >300 genes encoded by chromosome 21 with specific phenotypic features is a goa
298 region of interest on the long arm of human chromosome 21, with a multipoint logarithm of odds score
299 s are distributed along the entire length of chromosome 21, with approximately 35% found in genomic i
300 In humans, the gene for S100B is found on chromosome 21, within what is considered the obligate re
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