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1 le pool of granules and that the Ide gene is haploinsufficient.
2 uclear hormone receptor gene nhr-40 that are haploinsufficient.
3 referentially observed in genes likely to be haploinsufficient.
4 mouse model functionally validates MLL3 as a haploinsufficient 7q tumor suppressor and suggests a the
7 protein and a tumor suppressor gene that is haploinsufficient and down-regulated in the early phases
8 used for our analyses a combination of HDAC3 haploinsufficient and Purkinje cell (PC)-specific HDAC3
9 r results indicate that both TERT and TR are haploinsufficient and that their deficiency leads to tel
11 in either ubiquitous or NCC-specific Eif4a3 haploinsufficient animals, demonstrating an autonomous r
12 ment in in vivo insulin sensitivity in FoxO1 haploinsufficient animals, including reductions in circu
13 s have been limited to experiments with Elf5 haploinsufficient animals, overexpression systems or tra
17 ORC1) activity in B lymphoblasts, and mTORC1-haploinsufficient B cells have reduced clonal expansion,
18 t loss of one copy of Egr1 or Tp53 in an Apc haploinsufficient background (Apc (del/+)) accelerated t
19 AX6, and genetically ablating SOX2 on a Pax6-haploinsufficient background partially rescues the Sox2-
20 oinsufficient (ROCK2(+/-)) mice on FHL2(+/-)-haploinsufficient background restored the hypertrophic r
21 tic fibers and when expressed in the elastin haploinsufficient background reverses the hypertension a
23 he PML-RARA transgene was expressed in a Myc haploinsufficient background, we observed selection for
27 we show that Cd3g(+/-) Cd3d(+/-) (CD3 double-haploinsufficient (CD3DH)) mice have reduced TCR express
28 The ciliary phenotype of Smo inhibition is haploinsufficient, cell autonomous, and correlates with
32 s resulted in clonal dominance of these 'sub-haploinsufficient' cells, which was reflected in all blo
34 TR-pathway function in cell lines from three haploinsufficient contiguous gene-deletion disorders--a
36 e, we studied heart-specific, inducible Ryr2 haploinsufficient (cRyr2Delta50) mice with a stable 50%
38 protein (RP) genes are the most significant haploinsufficient determinants for embryoid body (EB) fo
41 we observed that genes that cause monogenic haploinsufficient diseases were substantially enriched f
43 myeloproliferative neoplasm, demonstrating a haploinsufficient effect of Asxl1 in the pathogenesis of
50 etinal samples were obtained from HIF-2alpha-haploinsufficient (Epas1+/-) and wild-type (Epas1+/+) ne
52 retina, as previously reported for mice with haploinsufficient expression of VEGF in neural progenito
53 he common deleted region for del(5q) MDS and haploinsufficient expression sensitizes cells to lenalid
55 disease-specific SETX mutations in senataxin-haploinsufficient fibroblasts and observed changes in di
56 The slow growth of cells lacking Dom34 and haploinsufficient for a protein of the 40S subunit is ca
60 everely impaired CSR when compared with mice haploinsufficient for AID(WT), with CSR levels reduced t
62 ons, mice heterozygous for the ZBP1 gene are haploinsufficient for axonal transport of beta-actin and
65 3 in hematopoietic stem and progenitor cells haploinsufficient for both Egr1 and Apc led to the devel
66 g was the sole abnormality in mice that were haploinsufficient for both fibrillin 1 and beta1 integri
69 rom the study of X-monosomic females who are haploinsufficient for expression of all non-inactivated
73 S (n = 25 with ASD, n = 50 without ASD), all haploinsufficient for mGluR network gene RANBP1, were ev
74 nd JNK2 are not synonymous, because MEKK1 is haploinsufficient for normal eyelid closure in Jnk1-null
75 humans the FOG2 and/or GATA4 genes might be haploinsufficient for normal testis determination and th
77 To address this issue, primary mouse cells, haploinsufficient for one or two proteins, ATM and RAD9,
81 ory subunits improved bone phenotype of mice haploinsufficient for Prkar1a, in support of the hypothe
82 cinogenesis, we generated TRbeta(PV/PV) mice haploinsufficient for Pten (TRbeta(PV/PV)Pten(+/-) mouse
84 terozygosity, while neither Pten nor Tsc2 is haploinsufficient for repression of carcinogenesis arisi
85 as partially or completely abrogated in mice haploinsufficient for ROCK2 (ROCK2(+/-) ) or ROCK1 (ROCK
87 m these individuals are functionally null or haploinsufficient for Siglec-1 activity in HIV-1 capture
88 cation, which are also enriched in mouse CMP haploinsufficient for SRSF2 and in CD34(+) CMML patient
89 nd, importantly, that both Pten and Tsc2 are haploinsufficient for suppression of tumorigenesis initi
91 AP57 is lethal, AtNAP57, like AtTERT, is not haploinsufficient for telomere maintenance in Arabidopsi
94 alysed rhabdomyosarcomas from mice that were haploinsufficient for the Hh-binding protein, Hip1, or f
95 e section, a result suggesting that Wwox was haploinsufficient for the initiation of tumor developmen
96 notypes appear early in mice that are double haploinsufficient for the mitotic checkpoint genes Bub3
98 e cleidocranial dysplasia observed in humans haploinsufficient for the transcription factor runt-rela
100 in mice homozygous for F5(L) (F5(L/L) ) and haploinsufficient for tissue factor pathway inhibitor (T
104 or "het" mice, deficient for dystrophin and haploinsufficient for utrophin with skeletal myopathy an
107 and osteoclastic resorption is decreased in haploinsufficient FSHbeta+/- mice with normal ovarian fu
112 Human disease phenotypes associated with haploinsufficient gene requirements are often not recapi
113 randomly distributed in the genome, whereas haploinsufficient genes (685, 765, 1,277 and 217 in gluc
115 tor on a set of well-studied 'gold standard' haploinsufficient genes does not improve the prediction
118 Here we show in both humans and yeast that haploinsufficient genes generally do not duplicate more
119 well as the most comprehensive inventory of haploinsufficient genes of any multicellular organism.
120 henotype-rescue screen to identify candidate haploinsufficient genes that might mediate the del(7q)-
121 east's mating type, and the concentration of haploinsufficient genes there may be a mechanism to prev
123 (i.e., the gene dosage hypothesis), because haploinsufficient genes were reported to have more paral
127 rization in response to hindlimb ischemia in haploinsufficient global or endothelial-specific Notch1(
129 rtial correction of the phenotype in Tmprss6 haploinsufficient Hbb(th3/+) male but not female mice an
132 osage, we performed a genome-wide screen for haploinsufficient (HI) genes that guard against genome i
135 leles of a human gene means that the gene is haploinsufficient, ignoring the fact that many dominant
137 ppropriate because it detects genes that are haploinsufficient in a hybrid background but that would
141 g a greater contribution from fam57ba to the haploinsufficient interaction between doc2a and fam57ba.
142 f Clec16a and Nrdp1 are both reduced in Pdx1 haploinsufficient islets, and reduction of Pdx1 impairs
143 oal tar restored filaggrin expression in FLG-haploinsufficient keratinocytes to wild-type levels, and
145 zygous mice also showed embryonic lethality (haploinsufficient lethality) observed only for Vegfa and
148 y, and have demonstrated that, as in humans, haploinsufficient levels of these proteins lead to a pro
150 d with dominant alleles (gain-of-function or haploinsufficient loss-of-function), disease allele-free
153 f allele cooperated with Trp53 deletion in a haploinsufficient manner to accelerate tumor development
156 els of plexiform neurofibroma formation, Nf1 haploinsufficient mast cells promote inflammation, accel
157 al networks to predict which human genes are haploinsufficient (meaning two copies are required for n
160 deficiency in nephropathy, we crossbred Myh9-haploinsufficient mice (Myh9(+/-)) with HIV-1 transgenic
162 cardiac hypertrophy, we generated ROCK1(+/-) haploinsufficient mice and determined whether cardiac hy
163 s of E2A expression was confirmed in vivo in haploinsufficient mice and ex vivo using shRNA knockdown
164 fferentiation and function, we generated Rax haploinsufficient mice and examined their cellular and m
166 e did not survive embryonic development, but haploinsufficient mice appeared normal at birth and were
169 Cul4A-deficient embryos die in utero, Cul4A-haploinsufficient mice are viable but exhibit abnormal h
173 or ubiquitin-mediated degradation, and Cul4A-haploinsufficient mice display hematopoietic dysregulati
179 Although cells from Bub1 hypomorphic and haploinsufficient mice have similar rates of chromosome
180 en Pdx1 deficiency and beta-cell death, Pdx1-haploinsufficient mice in which the genes for the BH3-on
181 monstrate that telomere shortening in NOTCH1-haploinsufficient mice is sufficient to elicit age-depen
185 astase-Kras(G12D) (EL-Kras) mice with Tgfbr1 haploinsufficient mice to generate EL-Kras/Tgfbr1(+/-) m
186 is study, we analyzed the phenotype of FoxO1 haploinsufficient mice to investigate the role of FoxO1
187 embryonic fibroblasts (MEFs) from Bub3/Rae1 haploinsufficient mice undergo premature senescence and
188 was assessed in wild-type or MMP14 (MT1-MMP)-haploinsufficient mice using immunofluorescent staining
192 ed in the developing cerebral cortex of Pten haploinsufficient mice, and a heterozygous mutation in b
195 nd prevented liver tumorigenesis in beta-pol haploinsufficient mice, i.e. FD provided protection agai
205 development, we developed shugoshin-1 (Sgo1) haploinsufficient (-/+) mice, an animal model focusing o
206 peractivation of the c-Kit pathway in an Nf1 haploinsufficient microenvironment is required for both
208 isons to maps of TF binding in Rad21-cohesin haploinsufficient mouse liver, suggests that cohesin hel
210 ion in vivo, we generated human APOE isoform haploinsufficient mouse models by crossing APPPS1-21 mic
213 sociated with short telomeres resulting from haploinsufficient mutations in TERT, the gene encoding t
218 neage-derived cells that resorb bone and NF1 haploinsufficient osteoclasts have abnormal Ras-dependen
220 .003), and these genes are more likely to be haploinsufficient (P-value = 0.01) than the ones with be
222 nscriptomes, including those of a unique QKI haploinsufficient patient, reveal striking changes in QK
223 reduced only aortic root dilatation rate in haploinsufficient patients (no losartan, 1.8+/-1.5 mm/3
224 D1 transgenic mice with pancreatic ER kinase haploinsufficient (PERK(+/-)) mice to obtain G85R/PERK(+
225 Myelosuppression and weight loss exhibited a haploinsufficient phenotype after mercaptopurine, wherea
226 e to be a novel cellular and biochemical NF1-haploinsufficient phenotype in osteoclasts that has pote
231 ls, wild-type primary mouse neurons, and Grn-haploinsufficient primary neurons from an FTD mouse mode
233 I1, which causes Smith-Magenis syndrome when haploinsufficient, providing a link to the overlapping f
236 in overgrowth is widespread in Pten germline haploinsufficient (Pten(+/-)) mice, reflecting Pten mRNA
238 red for development, top2a was found to be a haploinsufficient regulator of adult liver regrowth in z
239 ting the number of pancreatic progenitors, a haploinsufficient requirement for PDX1 in pancreatic bet
240 role of ROCKs in this process, we generated haploinsufficient Rock1 (Rock1(+/-)) and Rock2 (Rock2(+/
242 K2-deficient cardiomyocytes or placing ROCK2-haploinsufficient (ROCK2(+/-)) mice on FHL2(+/-)-haploin
243 4 copies in a diploid genome, we demonstrate haploinsufficient RPS17 expression and a small subunit r
247 CUX1 occupancy decreased genome-wide in the haploinsufficient state, and binding site affinity did n
251 strongly promotes tumorigenesis when p53 is haploinsufficient, suggesting that the defective p53-miR
254 Using TIP110 transgenic (TIP110(TG)) and haploinsufficient (TIP110(+/-)) mice, we found that incr
262 Our results demonstrate that ASPP2 is a haploinsufficient tumor suppressor and, importantly, ope
265 These data identify CUX1 as a conserved, haploinsufficient tumor suppressor frequently deleted in
267 findings suggest Dicer1 may be an important haploinsufficient tumor suppressor gene and, furthermore
268 wild-type allele, suggesting that Hipk2 is a haploinsufficient tumor suppressor gene for mouse lympho
269 Our results provide evidence for PPP2R4 as a haploinsufficient tumor suppressor gene, defining a high
272 We present evidence that 53BP1 behaves as haploinsufficient tumor suppressor in a mouse model of p
274 f miRNA, was recently shown to function as a haploinsufficient tumor suppressor in nonhematopoietic c
275 for tumor formation, establishing Pdcd4 as a haploinsufficient tumor suppressor in Pdcd4-deficient mi
276 ntaining transcription factor that acts as a haploinsufficient tumor suppressor in prostate cancer.
277 conclusively demonstrate that Npm1 acts as a haploinsufficient tumor suppressor in the hematopoietic
278 reast cancer cells, which support Dicer as a haploinsufficient tumor suppressor in these cancer model
280 provide compelling evidence that BCL11B is a haploinsufficient tumor suppressor that collaborates wit
282 Previously we have shown that Prep1 is a haploinsufficient tumor suppressor that inhibits neoplas
284 e curvature-driving endophilin protein, is a haploinsufficient tumor suppressor that plays a key role
285 ified mammalian autophagy gene product, is a haploinsufficient tumor suppressor that was originally i
287 -rich region-containing protein 2 (ASPP2), a haploinsufficient tumor suppressor, activator of p53, an
297 In contrast, dermal fibroblasts from Vcan haploinsufficient (Vcan(hdf/+)) mice had reduced contrac
298 the versican gene (CSPG2), demonstrated that haploinsufficient versican mice display septal defects r
299 ble genetic background that were also either haploinsufficient (Vwf+/-) or completely deficient (Vwf-
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