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1 iency phenotypes (increased growth rate when hemizygous).
2 e ancestral W female sex chromosome), and is hemizygous.
3 e examine the pathogenetic impact of somatic hemizygous 13q12.2 microdeletions in B-cell precursor (B
4 enital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallel
7 se reports of parkinsonism co-occurring with hemizygous 22q11.2 deletions and the associated multisys
13 ocus heterozygotes develop as females, while hemizygous and homozygous eggs develop as haploid and di
15 rotein are decreased in HDL2 brain, and Jph3 hemizygous and null mice exhibit abnormal motor function
16 Notably, clinical isolates are often EFG1 hemizygous and thus licensed to undergo this transition.
19 In the other, most intergenic insertions are hemizygous and, thus, incapable of homologous recombinat
20 ted pathogenic PID variants (1 homozygous, 5 hemizygous, and 35 heterozygous) found in 35/176 (20%) p
21 Compared with p53 wild-type animals, p53 hemizygous animals had early onset of lesions and a pron
24 and grip force were lower in homozygous and hemizygous Berkley mice (BERK and hBERK1, respectively)
25 CI 0.86-1.11; p=0.82) or homozygous girls or hemizygous boys (0.93, 0.82-1.04; p=0.25), with the sole
26 no evidence for protection among G6PD c.202T hemizygous boys and homozygous girls (OR 1.18, 0.99-1.40
27 kg once daily for 3 days), 95 G6PD-deficient hemizygous boys, 24 G6PD-deficient homozygous girls, and
30 iation in diploid C. albicans cells, as EFG1 hemizygous cells undergo a phenotypic transition inacces
32 ouse embryonic stem cells (ESCs) with nested hemizygous chromosomal deletions, we reveal that ribosom
33 gens with the amount of IL-4 produced in the hemizygous condition falling close to the threshold requ
34 eceptor channel was reduced to less than the hemizygous control and to less than half of the wild-typ
38 tly, KIF1Bbeta and DRP1 are silenced in 1p36 hemizygous-deleted neuroblastomas, indicating that dereg
41 indicated that promoter hypermethylation and hemizygous deletion contributed to the down-regulation o
42 zygosity that accrues as gene conversion and hemizygous deletion expose preexisting recessive deleter
43 uish loss of heterozygosity events caused by hemizygous deletion from those that occur by copy-neutra
45 -GATA site (T AGATAA: AGCCCC) and found that hemizygous deletion led to an embryonic lethal phenotype
46 eletion syndrome (22qDS), characterized by a hemizygous deletion of 1.5-3 Mb on chromosome 22 at locu
47 c genome rearrangement in TB that caused the hemizygous deletion of 313 genes, including the loss of
49 ychiatric abnormalities and is caused by the hemizygous deletion of a 1.5-3 Mb region of chromosome 2
53 aniofacial development are associated with a hemizygous deletion of chromosome 22q11 in humans and in
55 ssues, we took advantage of the link between hemizygous deletion of human chromosome 22q11.2 and high
61 mors that lack intragenic mutations but have hemizygous deletion of PTEN, which includes the promoter
63 atment was identified who harbored a somatic hemizygous deletion of the DNA repair gene FANCA and put
65 mouse model (Df[h15q13]/+) was generated by hemizygous deletion of the orthologous region and charac
67 ation, and immunodeficiency resulting from a hemizygous deletion of the short arm of chromosome 4, ca
70 eletion syndrome (22q11.2DS) carry a de novo hemizygous deletion of ~ 3 Mbp occurring by non-allelic
71 yndrome is a rare genetic disorder caused by hemizygous deletion of ~1.6 Mb affecting 26 genes on chr
72 )-a neurodevelopmental condition caused by a hemizygous deletion on chromosome 22-is associated with
74 s syndrome (WS), a rare disorder caused by a hemizygous deletion on chromosome 7q11.23, including gen
75 22q11DS), the result of a 1.5- to 3-megabase hemizygous deletion on human chromosome 22, results in d
77 the observed 27-40% LOH presents evidence of hemizygous deletion with the remaining allele hypermethy
78 1.2 locus, to levels more than expected by a hemizygous deletion, and we demonstrate that this reduct
80 CDKN1B in 14 of 180 SI-NETs, and we detected hemizygous deletions encompassing CDKN1B in 7 out of 50
83 otably, human high-grade gliomas carry focal hemizygous deletions of the X-linked Huwe1 gene in assoc
85 homozygous autosomal, complex autosomal and hemizygous deletions on the X chromosome of probands.
86 rier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive
87 ber of probes for genomic amplifications and hemizygous deletions that were initially detected by Rep
88 ed aberrations include homozygous deletions, hemizygous deletions, copy-neutral LOH, duplications, an
89 umor suppressors are part of large recurrent hemizygous deletions, such as the common chromosome 16q
90 rcinomas analyzed, 3 (13%) have somatic KLLN hemizygous deletions, with somatic loss of the wild-type
93 Liver tissues from mice with liver-specific hemizygous disruption of Ppargc1a placed on an obesogeni
94 patients with heterozygous TERT mutations or hemizygous DKC1 mutations, these 2 homozygous TERT patie
95 e resulting fitted models are applied to the hemizygous donors, one model (the one with the positive
96 these studies in wild-type C57BL/6 mice and hemizygous Drd1a-td Tomato (D1-Tmt), Drd1a-eGFP (D1-GFP)
104 ed Tconv clones from a female subject who is hemizygous for a null mutation in FOXP3, allowing the co
106 11 (g.73664C > T c.1846C > T p.Arg616*) and hemizygous for a transition mutation in Exon 6 of Nance-
108 except at the test locus, which is rendered hemizygous for alternative alleles from the two parental
110 nd related phenotypes of db/db mice that are hemizygous for both NSE-LEPR-B and SYN-LEPR-B transgenes
112 odeletion syndrome (15q13.3DS) are typically hemizygous for CHRNA7, the gene coding for the alpha7 ni
115 uals derived from these inbred lines will be hemizygous for each of these non-allelic homologs but RI
117 onin neurons are genetically deleted in mice hemizygous for ePet1-Cre and homozygous for floxed Lmx1b
118 olving immature vessels was observed in mice hemizygous for Grk2 or in animals with endothelium-speci
120 sessed APC mobilization and function in mice hemizygous for knockout of the insulin receptor (IRKO) a
123 ial cells of mice that were Brca1 mutant and hemizygous for p53 increased the percentage of mice exhi
126 uppressing the expression of EphB4; PV cells hemizygous for Pten show an approximately 2-fold increas
127 ly, we estimate that typical individuals are hemizygous for roughly 30-50 deletions larger than 5 kb,
128 further revealed that undifferentiated ESCs hemizygous for Rps5 showed reduced expression levels of
132 , the use of inbred strains of mice that are hemizygous for the Drd2 BAC transgene provides a reliabl
138 nic animals that were homozygous rather than hemizygous for the Sp2 transgene exhibited a striking ar
143 d strains of mice (C57BL/6, FVB/N) that were hemizygous for the transgene, the Drd2-eGFP BAC transgen
148 x invasion are enzymatically normal, even in hemizygous G6PD-Mahidol G487A mutants; thus, allowing th
152 ome-wide transcriptional consequences of the hemizygous genomic microdeletion at chromosome 7q11.23.
153 w that dispensable genes are associated with hemizygous genomic regions affected by structural varian
155 of the csd gene determine femaleness, while hemizygous genotypes (single specificity) determine male
158 identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may represent complete l
159 ess, a specific facial nerve hypomorphism in hemizygous Hoxb1(A1/-) mice and decreased viability in h
160 inue to collapse the homozygous (i.e., A/A), hemizygous (i.e., A/0), and duplicative (i.e., A/A/A) ge
166 t cleavage results in chromosomal losses and hemizygous indels because of cleavage of both alleles.
169 elogenesis, we generated and characterized a hemizygous knockin (KI) mouse model with a phosphorylati
170 erve a significant 1.5-fold increase in rare hemizygous knockouts in males, contributing to another 2
171 his study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for
172 ic ablation of Atp6ap2 resulted in both male hemizygous lethality and female haploinsufficiency.
176 critical for normal cognitive function; its hemizygous loss is linked to the severe mental retardati
177 example, breakpoints leading to large-scale hemizygous loss of chromosome 11q were highly clustered
178 cent studies have revealed downregulation or hemizygous loss of Dicer in many tumor models and demons
183 y, rare human prostate cancer samples showed hemizygous loss of the COP1 gene, loss of COP1 protein,
184 u syndrome (PTS) seems to occur by virtue of hemizygous loss of the FLI1 transcription factor gene.
188 alphaS homozygous M83 Tg mice and 3-4 mo for hemizygous M83 Tg mice, these animals developed a rapid,
189 oneal (i.p.) injections of alphaS fibrils in hemizygous M83 transgenic (M83(+/-)) mice resulted in CN
191 e-specific inheritance pattern of FDH, Porcn hemizygous male embryos arrest during early embryogenesi
192 limb strength and exercise capacity in adult hemizygous male mice starting from 7 to 10 months of age
198 type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malforma
200 test is applied to the females only, and the hemizygous males are considered to be uninformative.
202 = 2% in Hispanics) lowered HbA1c (-0.88% in hemizygous males, -0.34% in heterozygous females) and ex
203 76723693, p.Leu353Pro, MAF = 0.5%; -0.98% in hemizygous males, -0.46% in heterozygous females) and de
210 0.81%-units (95% CI 0.66-0.96) per allele in hemizygous men, and 0.68%-units (95% CI 0.38-0.97) in ho
211 all EGFPf-positive cultured DRG neurons from hemizygous mice (TRPM8(EGFPf/+)) responded to cold and m
213 NF-kappaB essential modulator) are lethal in hemizygous mice and men, whereas hypomorphic alleles typ
214 n which epitope-specific CD8(+) T cells from hemizygous mice had a higher avidity for pMHCI and incre
216 cient operation of the shuttle in the aralar hemizygous mice prevents the protective role of L-lactat
217 oreover, the peripheral T cell repertoire in hemizygous mice showed selective retention of T cell clo
218 ve superiority of CD8(+) T cells retained in hemizygous mice was also seen during influenza A virus i
220 pheral CD8(+) T cell numbers of ~50% in MHCI hemizygous mice, MHCI levels had no notable impact on th
221 The prediabetes stage was prolonged in the hemizygous mice, wherein beta-cell dysfunction and exten
222 ype AQP2 and AQP2-T126M were bred to produce hemizygous mice, which following excision of the wild-ty
226 rome (WS), a genetic disorder resulting from hemizygous microdeletion of chromosome 7q11.23, has emer
227 syndrome (WS), a genetic disorder caused by hemizygous microdeletion on chromosome 7q11.23 and chara
233 ically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicte
235 in by CRISPR-Cas9 mutagenesis and found that hemizygous mutants displayed significant differences in
244 noma NCI-H460 cells, which we show contain a hemizygous nonsense mutation in the Arkadia/RNF111 gene,
245 nts and exonic copy number variants, such as hemizygous nonsense, frameshift, and missense changes in
247 hT17M rhodopsin transgene in a line that was hemizygous null for wild-type mouse rhodopsin (mrho(+/-)
248 ssessments have been conducted in male Mecp2 hemizygous null mice as offspring of heterozygous dams.
258 iciency phenotypes (reduced growth rate when hemizygous) or haploproficiency phenotypes (increased gr
262 heterozygous rare variants in autosomes and hemizygous rare variants in the X chromosome of males.
264 etinograms (ERGs) were recorded from 44 male hemizygous Rs1h-KO and 44 male wild-type (WT) C57BL/6J m
266 f the intermediate phenotype of functionally hemizygous Scn8a(N1768D/-) mice indicates that severity
268 contrast, papillomas formed normally in Chk1 hemizygous skin but showed an increased propensity to pr
269 , heterozygous Sod2-knockout mouse (HET) and hemizygous Sod2 mice with overexpression of the enzyme (
271 anel of single-allele knockout strains whose hemizygous state mimics the genes' adaptive down-regulat
273 ve fitness assays of these pooled, barcoded, hemizygous strains, and accompanying controls, revealed
274 degree of correction in db/db mice that are hemizygous (Syn db/db) and homozygous (Syn/Syn db/db) fo
277 GLUD protein and activity in CNS neurons of hemizygous Tg mice were associated with increases in the
280 zygous Tg-TBK1 mice had 7.6% fewer RGCs than hemizygous Tg-TBK1 mice and 20% fewer RGCs than wild-typ
281 ghbouring genes, rendering cancer cells with hemizygous TP53 deletion vulnerable to further suppressi
283 at transgene expression can be restored when hemizygous transgenes that were silenced via multigenera
284 mLECs) derived from human IDO-overexpressing hemizygous transgenic (hemTg) and wild-type (Wt) mice we
285 ory hair cells within inner ear epithelia of hemizygous transgenic females due to X inactivation.
287 e (nasodigitoacoustic syndrome) identified a hemizygous truncating variant in the gene encoding glypi
288 treatment preferentially upregulated several hemizygous TSG in this genomic region, significantly der
289 nding hypermethylation and gene silencing of hemizygous tumor suppressor genes (TSG), we thus hypothe
291 ces within a 200-kb X-linked region, and the hemizygous (unpaired) state of the Xist region promotes
293 on, we identified four predicted pathogenic, hemizygous variants on chromosome X in two known disease
295 y one-quarter were viable when homozygous or hemizygous, whereas the remaining lines caused homozygou
296 73 HMZ deletion calls (567 homozygous or 206 hemizygous) with an estimated sensitivity of 86.5% (82%
298 ous recombination to modify a native gene in hemizygous (wt/Deltaexon) human cancer cells, generating
300 n is doubled from the single X chromosome in hemizygous (XY) males, whereas in Caenorhabditis nematod