ライフサイエンスコーパス: haploinsufficiency

1 ive activities or cause loss of function and haploinsufficiency.

2 K hyperactivation in Treg cells despite PTEN haploinsufficiency.

3 in both male hemizygous lethality and female haploinsufficiency.

4 bute to cancer development by a mechanism of haploinsufficiency.

5 ted with mild absence epilepsy due to simple haploinsufficiency.

6 creases PRPF31 gene expression that leads to haploinsufficiency.

7 al cord neurons are all reduced after Shank3 haploinsufficiency.

8 suggest either a dominant negative effect or haploinsufficiency.

9 ts with hypothyroidism resulting from NKX2-1 haploinsufficiency.

10 n these families is caused by NF-kappaB1 p50 haploinsufficiency.

11 ecting against age-related disease caused by haploinsufficiency.

12 oxidative burst defects associated with Ncf4 haploinsufficiency.

13 ast cancer development associated with BRCA1 haploinsufficiency.

14 elements, implying that the mutation caused haploinsufficiency.

15 endothelial cell activation caused by Notch1 haploinsufficiency.

16 re reduced by Btk deficiency, but not Notch2 haploinsufficiency.

17 X syndrome may benefit patients with SYNGAP1 haploinsufficiency.

18 mice with different penetrance compared with haploinsufficiency.

19 losely mimics human disease caused by NOTCH1 haploinsufficiency.

20 benign familial neonatal seizures mainly by haploinsufficiency.

21 h the disease phenotype and resulted in RelA haploinsufficiency.

22 2BA/N2B isoform ratio and there was no titin haploinsufficiency.

23 autoimmunity (BRIDA) that results from BACH2 haploinsufficiency.

24 blepharophimosis, are mostly driven by BRPF1 haploinsufficiency.

25 tation (67.5%) and 38 for a mutation causing haploinsufficiency (32.5%).

26 operated with loss of Notch1, insofar as its haploinsufficiency accelerated tumor growth only in HPV-

27 Genetic variants that cause haploinsufficiency account for many autosomal dominant (

28 BRCA1 pathogenic mutation to show how BRCA1 haploinsufficiency affects these processes.

29 GATA3 haploinsufficiency also causes human HDR (hypoparathyroi

30 Arid1b haploinsufficiency also led to an imbalance between exci

31 In addition, we have shown that CTCF haploinsufficiency also occurs in poor prognosis endomet

32 Podocyte-specific Rap1a and Rap1b haploinsufficiency also resulted in severe podocyte dama

33 Rax haploinsufficiency also resulted in the ectopic presence

34 ducing phosphorylation of eIF2alpha, by Perk haploinsufficiency, also ameliorates the myelin defects

35 NOTCH1 haploinsufficiency altered H3K27ac at NOTCH1-bound enhan

36 However, Gnal haploinsufficiency altered self-grooming, motor coordina

37 The mechanisms by which transcription factor haploinsufficiency alters the epigenetic and transcripti

38 stigated the association between human GATA6 haploinsufficiency and a wide range of clinical phenotyp

39 ation of autophagy and indicate that C9orf72 haploinsufficiency and associated reductions in autophag

40 ygous state, they test a gene's tolerance to haploinsufficiency and dominant loss of function.

41 ate PAX2 mutations can cause disease through haploinsufficiency and dominant negative effects, which

42 res and related comorbidities resulting from haploinsufficiency and dominant negative mutations, howe

43 s EXT1 or EXT2, but studies suggest that EXT haploinsufficiency and ensuing partial HS deficiency are

44 ibited significantly higher probabilities of haploinsufficiency and genic intolerance, and significan

45 on data, and TMA analysis indicate that TP53 haploinsufficiency and increased EGFR expression co-occu

46 h SRY repression could result in RET protein haploinsufficiency and promotion of HSCR development, th

47 to deleterious mutations, commonly observed haploinsufficiency, and the importance of EGs in develop

48 lvement in complex regulatory networks, gene haploinsufficiency, and the strength of posttranscriptio

49 Progranulin (GRN) mutations causing haploinsufficiency are a major cause of frontotemporal l

50 ations leading to progranulin protein (PGRN) haploinsufficiency are prevalent genetic causes of front

51 predominantly loss-of-function, implicating haploinsufficiency as a frequent mechanism.

52 BAZ1B in neurodevelopment and implicate its haploinsufficiency as a likely contributor to the neurol

53 include cardiac defects and implicate NOTCH1 haploinsufficiency as a likely molecular mechanism for t

54 is reduced in expansion carriers implicating haploinsufficiency as one of the disease mechanisms.

55 products, but instead reveals selective TACI haploinsufficiency at later stages of B-cell development

56 AM-like features of these cells suggest that haploinsufficiency at the TSC2 locus contributes to LAM

57 Last, COUP-TFII haploinsufficiency attenuates the progression of cardiac

58 We found that TREM2 deficiency and haploinsufficiency augment beta-amyloid (Abeta) accumula

59 cated A20 proteins are likely to act through haploinsufficiency because they do not exert a dominant-

60 and marginal zone B cells are attributed to haploinsufficiency but not to intracellular domain compo

61 We investigated potential TACI haploinsufficiency by analyzing patients with antibody-d

62 d the differentiation defect caused by BAZ1B haploinsufficiency can be rescued by mitigating over-act

63 ribosomes, such as those created by ribosome haploinsufficiency, can drive messenger RNA-specific eff

64 human progranulin gene resulting in protein haploinsufficiency cause frontotemporal lobar degenerati

65 e Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but

66 BAZ1B haploinsufficiency caused widespread gene expression cha

67 Sox17 haploinsufficiency causes biliary atresia-like phenotype

68 Erf haploinsufficiency causes craniosynostosis in humans and

69 CrkL haploinsufficiency causes functional NK deficits in pati

70 Tau haploinsufficiency causes prenatal loss of dopaminergic

71 However the mechanism by which CTCF haploinsufficiency contributes to cancer development is

72 Smc3 haploinsufficiency cooperated with Flt3-ITD to induce ac

73 increased wild-type ATAXIN1 levels and PUM1 haploinsufficiency could contribute to human neurodegene

74 based on fibrillin-1 protein effect into (1) haploinsufficiency, decreased amount of normal fibrillin

75 Inherited human CTLA4 haploinsufficiency demonstrates a critical quantitative

76 cytosol or mitochondria, showed that Mrpl40 haploinsufficiency deregulates STP via impaired calcium

77 Smad3 haploinsufficiency did not affect metabolic function in

78 ATAD5 haploinsufficiency did not change the frequency or spect

79 on alleles causes an incompletely penetrant, haploinsufficiency disorder.

80 vity (under a recessive paradigm) or through haploinsufficiency (dominant de novo paradigm).

81 Instead, biochemical mechanisms involving haploinsufficiency, dominant gain-of-function and recess

82 the nonsense variant demonstrated functional haploinsufficiency due to activation of nonsense mediate

83 d demonstrated that each mutation results in haploinsufficiency due to protein loss of function.

84 Whereas deletion CNVs lead obviously to haploinsufficiency, duplications might cause disease thr

85 shell formation model further explained the haploinsufficiency effect on the SHELL gene with differe

86 MX1BR246Q, we observed dominant negative and haploinsufficiency effects of the mutation on the expres

87 iminished autophagic activity resulting from haploinsufficiency for Beclin 1.

88 initial picture of the consequences of Chd8 haploinsufficiency for brain development.

89 These data demonstrate that haploinsufficiency for Dnmt3a alters hematopoiesis and p

90 Thus, haploinsufficiency for either of PKA-II regulatory subun

91 h no ENU-induced F3 mutation was identified, haploinsufficiency for F3 (F3(+/-) ) suppressed F5(L/L)T

92 Haploinsufficiency for GRHL2 has been implicated in auto

93 outperforms these approaches for predicting haploinsufficiency for less-studied genes.

94 The altered amino acids cause haploinsufficiency for LOX or are located at a highly co

95 Our analysis revealed that haploinsufficiency for p32 impairs glucose oxidation, wh

96 Here, we show that haploinsufficiency for Rbm8a, an exon junction complex (

97 Haploinsufficiency for SHANK3 is one of the most prevale

98 Haploinsufficiency for Stard7 is associated with signifi

99 ssue in wild-type mice, phenocopying genetic haploinsufficiency for the Fsh receptor gene Fshr.

100 We conclude that a state of haploinsufficiency for the Il4 gene locus is specificall

101 Haploinsufficiency for the Notch ligand JAG1 in humans r

102 racterization of Wac in vivo showed obligate haploinsufficiency for this gene (which encodes an autop

103 tudies provide the first evidence that GRP78 haploinsufficiency for up to 2 years of age has no major

104 Importantly, Sfpi1 haploinsufficiency genetically distinguished the precurs

105 ntenance, highlighted by the fact that Gata2 haploinsufficiency has been identified as the cause of s

106 Granulin transcript haploinsufficiency has been proposed as a disease mechan

107 in C9ALS/FTD patients, and although C9orf72 haploinsufficiency has been proposed to contribute to C9

108 Germ-line GATA2 gene mutations, leading to haploinsufficiency, have been identified in patients wit

109 Haploinsufficiency (HI) is the best characterized mechan

110 of function of the mutated allele leading to haploinsufficiency; however, this postulate has not been

111 rize with WT DNMT3A, strongly supporting the haploinsufficiency hypothesis.

112 f NSF alone or in combination with dysbindin haploinsufficiency impaired homeostatic synaptic plastic

113 e amyloid plaque pathology arising from JIP3 haploinsufficiency in a mouse model of AD.

114 A20 haploinsufficiency in allograft recipients did not influ

115 We further discovered that GRP78 haploinsufficiency in both the PKC78(f/+) and c78(f/+) p

116 Our data link Rps14 haploinsufficiency in del(5q) MDS to activation of the i

117 Haploinsufficiency in DYRK1A is associated with a recogn

118 They show that Nipbl haploinsufficiency in either of two cell populations was

119 In these models, Nf1 haploinsufficiency in hematopoietic cells accelerated tu

120 Diseases caused by gene haploinsufficiency in humans commonly lack a phenotype i

121 We show that Bcl11a haploinsufficiency in mice causes impaired cognition, ab

122 Plk1 haploinsufficiency in mice did not induce obvious cell p

123 Hhip haploinsufficiency in mice leads to increased susceptibi

124 Genes that were dysregulated due to NOTCH1 haploinsufficiency in mice with shortened telomeres were

125 Furthermore, Pals1 haploinsufficiency in mouse kidneys associated with the

126 d whether loss of a TNFRSF13B allele induced haploinsufficiency in naive and memory B cells and recap

127 Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and d

128 Here, we show that tau haploinsufficiency in postnatal day 0 (P0) heterozygous

129 data demonstrate the pathogenic role of BPTF haploinsufficiency in syndromic neurodevelopmental anoma

130 evel, suggesting a functional role for DGCR2 haploinsufficiency in the 22q11.2 deletion syndrome.

131 Here we examine the consequences of haploinsufficiency in the mouse integrin beta3 subunit g

132 vide new insights into the mechanism of LIS1 haploinsufficiency in the neurodevelopmental disorder li

133 Haploinsufficiency in the progranulin (GRN) gene account

134 Haploinsufficiency in the tumor suppressor NF1 contribut

135 ere chosen because of mounting evidence that haploinsufficiency in these genes is highly penetrant fo

136 A20 haploinsufficiency in vascular allografts aggravates les

137 roportion of existing methods for predicting haploinsufficiency incorporate biological networks, e.g.

138 In contrast, Smc3 haploinsufficiency increased self-renewal in vitro and i

139 The TNNI3p.98trunc showed pure haploinsufficiency, increased Ca(2+) -sensitivity and im

140 TNNI3p.98trunc resulted in haploinsufficiency, increased Ca(2+) -sensitivity and re

141 of Tp53 expression, in combination with Egr1 haploinsufficiency, increased the rate of development of

142 beta-catenin nuclear signaling, beta-catenin haploinsufficiency induced aggressive tumor formation an

143 xisting BRCA2 expression, sensitize to BRCA2 haploinsufficiency induced by transient exposure to natu

144 In addition, Eed haploinsufficiency induced hematopoietic dysplasia, and

145 Furthermore, we uncover a novel form of haploinsufficiency-induced senescence (HIS) specific to

146 To examine whether C9ORF72 haploinsufficiency induces neurological disease, we crea

147 nfavorable patient prognosis suggesting that haploinsufficiency is a clinically relevant means of eva

148 Syngap1 haploinsufficiency is a common cause of sporadic intelle

149 Haploinsufficiency is a popular explanation for the dise

150 These results challenge the concept that haploinsufficiency is a unifying mechanism for HCM cause

151 d multiple ankyrin repeat domains 3 (SHANK3) haploinsufficiency is causative for the neurological fea

152 Haploinsufficiency is emerging as a critical aspect of g

153 tr2 knockin/knockout demonstrated that Actr2 haploinsufficiency is lethal, supporting a hypomorphic o

154 valuation of TBK1 variants that do not cause haploinsufficiency is not possible without data demonstr

155 We further imply that haploinsufficiency is unlikely to be the causative facto

156 enotype according to RUNX1 mutations, with a haploinsufficiency leading to thrombocytopenia alone in

157 We report that Pten haploinsufficiency leads to a dynamic trajectory of brai

158 These results suggest that MEF2C haploinsufficiency leads to abnormal brain development,

159 dels, we demonstrate that TRPC6 reduction or haploinsufficiency leads to altered neuronal development

160 Finally, Armc5 haploinsufficiency leads to Cushing syndrome in mice, bu

161 In humans, SIP1 (ZEB2) haploinsufficiency leads to Mowat-Wilson syndrome, a com

162 We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation,

163 Together our data suggest that HIC2 haploinsufficiency likely contributes to the cardiac def

164 These studies show that 1) Notch2 haploinsufficiency limits NOD MZ B cell expansion withou

165 More important, Col5a2 haploinsufficiency markedly increased the incidence and

166 tion of C9orf72 transcripts, suggesting that haploinsufficiency may contribute to disease pathogenesi

167 Munc18-1 mutations and haploinsufficiency may therefore trigger a pathogenic ga

168 Thus, studying mouse models of Syngap1 haploinsufficiency may uncover pathologic developmental

169 These results suggest a haploinsufficiency mechanism and point to a causative ro

170 ced heart dysfunction, indicating a probable haploinsufficiency mechanism.

171 t hairpin RNA knockdown assays and a genetic haploinsufficiency model of Dnmt3a restored the frequenc

172 A Syngap1 haploinsufficiency model was used to explore the relatio

173 results show that in contrast to simple Pax5 haploinsufficiency, multiple sequential alterations targ

174 Haploinsufficiency mutations in GRN, the gene encoding P

175 gative mutations being more deleterious than haploinsufficiency mutations.

176 Here we build haploinsufficiency network analyses to identify which SC

177 Non-haploinsufficiency (NHI) mechanisms, such as gain-of-fun

178 PPARgamma haploinsufficiency normalized PPARgamma mRNA levels in V

179 tributions of MZ B cells in NOD mice, Notch2 haploinsufficiency (Notch2(+/-)) was introduced but fail

180 Such a reduction approximates the haploinsufficiency observed in human patients who demons

181 of vascular homeostasis, given that genetic haploinsufficiency of Adamts1 in mice causes TAAD simila

182 Haploinsufficiency of ARID1B, a component of chromatin r

183 Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remode

184 Consequently, haploinsufficiency of AT-1/SLC33A1 in the mouse rescued

185 Haploinsufficiency of BCL11A induces only partial develo

186 s Bmp2-knockout mouse model, suggesting that haploinsufficiency of BMP2 could be the primary phenotyp

187 hR-dependent calcium flux is expected due to haploinsufficiency of CHRNA7.

188 Cardiac-specific haploinsufficiency of cofilin-2 in mice recapitulated th

189 o that in human individuals, suggesting that haploinsufficiency of CRKL could be responsible for the

190 appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic

191 Specifically, pDGS haploinsufficiency of CrkL inhibits accumulation of acti

192 Haploinsufficiency of CUX1 altered the expression of a l

193 This results from haploinsufficiency of CYFIP1, a gene within 15q11.2 that

194 eural progenitor cell differentiation, while haploinsufficiency of DYRK1A is associated with severe m

195 for the disruptive effects of the absence or haploinsufficiency of DYRK1A on early mammalian developm

196 is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransfer

197 notypic features have not been linked to the haploinsufficiency of genes involved in the microdeletio

198 stress levels in murine lungs as a result of haploinsufficiency of Hhip.

199 Haploinsufficiency of IRF6 causes Van der Woude and popl

200 Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encou

201 This study demonstrates that haploinsufficiency of MBD5 causes diverse phenotypes, yi

202 us deletions of 22q11DS genes and identified haploinsufficiency of Mrpl40 (mitochondrial large riboso

203 We report here that haploinsufficiency of murine Adamts9, encoding a secrete

204 rvation of muscle function and viability for haploinsufficiency of NaV1.4, as has been reported in hu

205 Genetic evaluation identified haploinsufficiency of NFAT5, a transcription factor regu

206 Therefore, haploinsufficiency of one TSC tumor suppressor gene was

207 Haploinsufficiency of peripheral myelin protein 22 (PMP2

208 urrently affected in human cancer, involving haploinsufficiency of PPP2R4, a gene encoding the cellul

209 Haploinsufficiency of progranulin (GRN) is a major genet

210 Haploinsufficiency of progranulin (PGRN) due to mutation

211 provide evidence that inhibition or genetic haploinsufficiency of protein kinase R-like endoplasmic

212 myelodysplastic syndrome, most likely due to haploinsufficiency of related 7q21.2 genes.

213 ns in RERE cause a genetic syndrome and that haploinsufficiency of RERE might be sufficient to cause

214 Haploinsufficiency of Retinoic Acid Induced 1 (RAI1) cau

215 predicted to be deleterious and resulted in haploinsufficiency of RPS29 expression compared with wil

216 These genetic changes include haploinsufficiency of SETBP1 associated with intellectua

217 s transcriptional activity, showing that the haploinsufficiency of SIM1 and MC4R results in obesity.

218 Together, our data establish that haploinsufficiency of SIN3A is associated with mild synd

219 gile X mental retardation protein (FMRP) and haploinsufficiency of synaptic GTPase-activating protein

220 Genetic haploinsufficiency of SYNGAP1/Syngap1 commonly occurs in

221 These findings suggest that haploinsufficiency of TBK1 is causative for ALS and FTD

222 rved in many human syndromes that are due to haploinsufficiency of the affected gene.

223 Haploinsufficiency of the AT-rich interactive domain 1B

224 We show that haploinsufficiency of the ATP-dependent chromatin remode

225 In mice, haploinsufficiency of the Foxf1 gene causes alveolar cap

226 Haploinsufficiency of the hematopoietic transcription fa

227 hy, partially resembling the consequences of haploinsufficiency of the human CAMTA1 locus.

228 Haploinsufficiency of the melanocortin-4 receptor, the m

229 after referred to as 22q11DS mice), in which haploinsufficiency of the microRNA (miRNA)-processing-fa

230 m in 22qDS reflected a critical role for the haploinsufficiency of the mitochondrial citrate transpor

231 Haploinsufficiency of the progranulin (PGRN) gene (GRN)

232 Haploinsufficiency of the SLC2A1 gene and paucity of its

233 Loss-of-function mutations of HSCR genes and haploinsufficiency of their gene products are the primar

234 ein levels and were semivitreous, indicating haploinsufficiency of these gene products in opaque2 end

235 r for several steroid hormone receptors, and haploinsufficiency of this gene may be responsible for t

236 ects were rescued in TgNotch3(R169C) mice by haploinsufficiency of Timp3, although the number of whit

237 Haploinsufficiency of TRAIL-R, a consequence of del(8p),

238 suggest that most symptoms are controlled by haploinsufficiency of two or more 16p11.2 genes.

239 ent between the two subsets, suggesting that haploinsufficiency of WDR26 contributes to the pathology

240 results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key t

241 pportunity to determine the impact of CDKN2A haploinsufficiency on glucose homeostasis in humans.

242 ght to define the effect of pDGS-related Crk haploinsufficiency on NK cell activation and cytotoxic i

243 Our findings highlight the impact of tau haploinsufficiency on the survival of mDANs and indicate

244 Functional studies revealed that PAX9 haploinsufficiency or a loss of function of the PAX9 pro

245 rs most commonly caused by ribosomal protein haploinsufficiency or defects in ribosome biogenesis.

246 ther, mutations in CTLA4 resulting in CTLA-4 haploinsufficiency or impaired ligand binding result in

247 In contrast, haploinsufficiency or loss of vitronectin in TgNotch3(R1

248 Either Lgr4 haploinsufficiency or mammary-specific deletion inhibite

249 Here, we have shown that mice with Sepp1 haploinsufficiency or mutations that disrupt either the

250 hibitor GSK2606414, we demonstrate that PERK haploinsufficiency or partial inhibition led to reduced

251 intriguing possibility that RMAE impacts the haploinsufficiency phenotypes observed for FOXP2 mutatio

252 Our approach provides a haploinsufficiency prediction for over twice as many gen

253 nsortium creates an urgent need for unbiased haploinsufficiency prediction methods.

254 , and raise the possibility that human ARL15 haploinsufficiency predisposes to lipodystrophy.

255 rying a monoallelic gene deletion inducing a haploinsufficiency, presents only as thrombocytopenia.

256 sis method for drug target identification in haploinsufficiency profiling (HIP) and homozygous profil

257 Genome-wide yeast haploinsufficiency profiling experiments highlight the e

258 us alphaKlotho-hypomorphic mice (alphaKlotho haploinsufficiency) progressed to CKD much faster, where

259 IPMK haploinsufficiency promotes carcinoid tumorigenesis.

260 Smc3 haploinsufficiency reduced coordinated transcriptional o

261 Additionally, Pip5k1c haploinsufficiency reduces pronociceptive receptor signa

262 tion in tau-expressing Drosophila, and Nuak1 haploinsufficiency rescued the phenotypes of a tauopathy

263 Here, we found that haploinsufficiency restricted to forebrain glutamatergic

264 In the brain, Arid1b haploinsufficiency resulted in changes in the expression

265 Hnrnpk haploinsufficiency resulted in reduced survival, increas

266 Progranulin (PGRN) haploinsufficiency resulting from loss-of-function mutat

267 orf72 hexanucleotide repeat expansion led to haploinsufficiency resulting in severely defective intra

268 Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevel

269 ein at postnatal day 8 in mice harboring Nf1 haploinsufficiency results in an aggressive MPN with dea

270 ism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disabili

271 On a C57BL/6 background, Jag1 haploinsufficiency results in bile duct paucity in mice.

272 f Sp1 or Sp3 in mice is lethal, and combined haploinsufficiency results in hematopoietic defects duri

273 Here we show that Tcof1 haploinsufficiency results in oxidative stress-induced D

274 been reported in patients with the dominant haploinsufficiency Saethre-Chotzen syndrome (typically a

275 By contrast, we derive a haploinsufficiency score from a combination of unbiased

276 onal deletion of 1 Gata4 allele to model the haploinsufficiency seen in HCC produced enlarged livers

277 ped in def-deficient zebrafish, and that def haploinsufficiency significantly decreases disease penet

278 chronic CS-induced oxidative stress in Hhip haploinsufficiency states.

279 errations provoked by aldehyde-induced BRCA2 haploinsufficiency, suggesting that BRCA2 inactivation t

280 Furthermore, we found that Arid1b haploinsufficiency suppressed histone H3 lysine 9 acetyl

281 wever, molecular mechanisms underlying MEF2C haploinsufficiency syndrome remain poorly understood.

282 nd molecular data define "YY1 syndrome" as a haploinsufficiency syndrome.

283 These were more pronounced in mice with Nf1 haploinsufficiency than in littermates with wild-type Nf

284 Haploinsufficiency, the prevalent model for the disease,

285 frontotemporal dementia through progranulin haploinsufficiency, therefore, boosting progranulin expr

286 st CTCF mutations effectively result in CTCF haploinsufficiency through nonsense-mediated decay of mu

287 We used a mouse model of Nedd4-2 haploinsufficiency to investigate whether an alteration

288 ASGR1 haploinsufficiency was associated with reduced levels of

289 rrow (BM) transplantation experiments, Cxcr4 haploinsufficiency was sufficient to confer a strong lon

290 previously suggested mutation-specific BRCA1 haploinsufficiency, we aimed to investigate whether ther

291 In addition to this GATA6 haploinsufficiency, we also identified dosage-sensitive

292 ng shRNA targeting CTCF to recapitulate CTCF haploinsufficiency, we have identified a novel role for

293 in mice with keratinocyte-specific PPARgamma haploinsufficiency were performed to identify the functi

294 major cause of autosomal dominant disease is haploinsufficiency, whereby a single copy of a gene is n

295 We show that SynGAP haploinsufficiency, which causes ID with co-occurring AS

296 simple loss of subunit function (functional haploinsufficiency), while others may be caused by loss-

297 to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders

298 at TACI A181E heterozygosity results in TACI haploinsufficiency with increased susceptibility to pneu

299 These results suggest that tau haploinsufficiency, without the compensation effect of M

300 e NIH Roadmap Epigenomics Project to predict haploinsufficiency, without the study bias described ear