ライフサイエンスコーパス: loss-of-function mutation

1 rexpression lines is suppressed by the flc-3 loss-of-function mutation.

2 the affected cases carried at least one full loss-of-function mutation.

3 in clinical counseling of patients with this loss-of-function mutation.

4 ected over time, as expected for a recessive loss-of-function mutation.

5 lly as a recessive trait, as expected from a loss-of-function mutation.

6 , and children were genotyped for common FLG loss-of-function mutations.

7 ormations similar to those observed with PcG loss-of-function mutations.

8 ggests a different pathology associated with loss-of-function mutations.

9 Two of these mutations were loss-of-function mutations.

10 tocatalytic mutations, to produce homozygous loss-of-function mutations.

11 EG abnormalities for patients with gain- and loss-of-function mutations.

12 response (DDR) and are characterized by rare loss-of-function mutations.

13 y to result in offspring carrying homozygous loss-of-function mutations.

14 orders, moving beyond the more commonly seen loss-of-function mutations.

15 grains, similar to those observed in three Q loss-of-function mutations.

16 fibrosis in mice with adiponectin gain- and loss-of-function mutations.

17 ons (21.3 years) and those with all types of loss of function mutations (28.5 years) or genomic rearr

18 Our data show that p.Arg396Gln is a loss-of-function mutation affecting DNA-binding ability

19 A loss-of-function mutation, alpha2E336A, in the alpha2-in

20 cing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myoc

21 stem (ES) cells carrying a conditional L1CAM loss-of-function mutation and produced precisely matchin

22 Eleven of the individuals carry loss-of-function mutations, and four harbor missense sub

23 wever, most young duplicates are degraded by loss-of-function mutations, and the factors that allow s

24 Rare CDKN2A loss-of-function mutations are a cause of familial melan

25 Filaggrin loss-of-function mutations are a major genetic predispos

26 homologs are essential for survival and that loss-of-function mutations are associated with a range o

27 iquitously expressed in mammalian cells, its loss-of-function mutations are the direct cause of type

28 APC biallelic loss-of-function mutations are the most prevalent geneti

29 ed Vps35 variant, R524W, but not P316S, is a loss-of-function mutation as marked by a reduced associa

30 ation through chromosomal translocations and loss-of-function mutations as found in acute myeloid leu

31 Here we compared two mouse models of GABRG2 loss-of-function mutations associated with epilepsy with

32 lation for Bartter syndrome type 3: complete loss-of-function mutations associated with younger age a

33 ocytosis cohort analyses identified a single loss-of-function mutation (BLVRB(S111L)) causally associ

34 Human cancer is enhanced by PPARgamma loss-of-function mutations, but inhibited by PPARgamma a

35 Here we report two loss-of-function mutations (c.1655T>A [p.Leu552( *)] and

36 A homozygous loss-of-function mutation called fragilitas ossium (fro)

37 Loss-of-function mutations can disrupt both copies of a

38 These defects included loss-of-function mutations, copy-number changes associat

39 ression of the mutated TBK1 allele is due to loss-of-function mutations creating a premature terminat

40 mutations included five de novo heterozygous loss of function mutations/deletions in the PBX homeobox

41 Unlike previously described loss-of-function mutations, DeltaCT-NEMO mutants promote

42 In addition, we used the loss-of-function mutations dMiroT25N and dMiroT460N to d

43 small set of genes, suggesting that specific loss-of-function mutations drive tumor growth and metast

44 Moreover, a partial loss-of-function mutation, ede1-1, compromises the local

45 In the tissue model, loss-of-function mutations facilitated breakdown of exci

46 Loss-of-function mutations had heterogeneous effects on

47 Significantly, both RhoA GTPase gain- and loss-of-function mutations have been discovered in prima

48 rominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, d

49 fts in mating system, followed by additional loss-of-function mutations, impact reproductive barriers

50 d the effects of the rare APOC3(rs138326449) loss of function mutation in lipoprotein metabolism, as

51 able of methylating As(III), the result of a loss of function mutation in organisms with infrequent e

52 mutants in Caki2 cells (ccRCC cells with the loss of function mutation in PBRM1).

53 ough the identification of recurrent de novo loss of function mutations in affected individuals.

54 rs, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-

55 gulated growth and differentiation caused by loss of function mutations in either the TSC1 or TSC2 ge

56 ing GPI anchor protein pathway genes induced loss of function mutations in human and mouse cell lines

57 ding a thiol isomerase, based on independent loss of function mutations in individuals with a consist

58 ES subsequently revealed recessive predicted loss of function mutations in ITPA, encoding inosine tri

59 Indeed, loss of function mutations in MICU1, a regulator of MCU

60 autosomal recessive form of GPS is linked to loss of function mutations in NBEAL2, which is predicted

61 x systems, including modelling the effect of loss of function mutations in protein interaction networ

62 In humans, loss of function mutations in SEC23B result in Congenita

63 found that this phenotype was suppressed by loss of function mutations in the feoAB operon encoding

64 g screen, we serendipitously discovered that loss of function mutations in the gerA receptor partiall

65 Loss of function mutations in the neurofibromatosis Type

66 In this study, loss of function mutations in the oligopeptide importer

67 This strain carries a loss-of-function mutation in actr10, a member of the dyn

68 effect that is explained by segregation of a loss-of-function mutation in an uncharacterized gene, pl

69 A loss-of-function mutation in atp1b1a, encoding the beta

70 Loss-of-function mutation in DDB2 leads to genome-wide D

71 rent homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK domain containing 1 (

72 -negative STAT3 mutations (STAT3(mut) ) or a loss-of-function mutation in ERBB2IP (ERBB2IP(mut) ) hav

73 under ambient air, we isolated a second-site loss-of-function mutation in GLYCOLATE OXIDASE1 (GOX1) t

74 leukocytes from 2 siblings with a homozygous loss-of-function mutation in group IVA cytosolic phospho

75 A loss-of-function mutation in the Arabidopsis Elongator s

76 and whole-exome sequencing, we identified a loss-of-function mutation in the Golgb1 gene that co-seg

77 scriptional activation domain (9aaTAD) and a loss-of-function mutation in this 9aaTAD impairs the exp

78 Our study uncovers the loss-of-function mutation in ZBTB7A as a novel mechanism

79 Here, we describe a zap70 loss-of-function mutation in zebrafish (zap70(y442)) tha

80 In addition, we analyzed FLG loss-of-function mutations in 17 children with AD and th

81 , PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8,

82 Loss-of-function mutations in 3'-to-5' exoribonucleases

83 These data indicate that loss-of-function mutations in ABCA1 in young adults may

84 ing signal from rare variants, we found that loss-of-function mutations in ald (Rv2780), encoding L-a

85 Loss-of-function mutations in ALPL result in hypophospha

86 Loss-of-function mutations in ancestral orthologs of bot

87 We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride l

88 These data indicate that loss-of-function mutations in ANKZF1 result in deregulat

89 l lines and antigens, we identified multiple loss-of-function mutations in APLNR, encoding the apelin

90 Because HHT is caused by loss-of-function mutations in bone morphogenetic protein

91 Loss-of-function mutations in both genes are known cause

92 Here we show that loss-of-function mutations in calpastatin (CAST) are the

93 Loss-of-function mutations in CBL E3 ubiquitin ligases a

94 ormal complement activation due to biallelic loss-of-function mutations in CD55.

95 SHP2 loss-of-function mutations in chondroid cells are linked

96 eate a myasthenic disorder that is caused by loss-of-function mutations in COL13A1, encoding a protei

97 Homozygous loss-of-function mutations in Contactin Associated Prote

98 Loss-of-function mutations in CTRC increase the risk for

99 Loss-of-function mutations in DGUOK have previously been

100 While loss-of-function mutations in DNMT3A are highly recurren

101 n multiple leukocyte populations; in humans, loss-of-function mutations in Dock8 result in severe imm

102 munodeficiency caused by autosomal recessive loss-of-function mutations in DOCK8.

103 rare autosomal recessive disorder caused by loss-of-function mutations in dopamine transporter (DAT)

104 Herein, we report loss-of-function mutations in ELMO2 (which translates ex

105 ts with pseudohypoaldosteronism-1 because of loss-of-function mutations in epithelial sodium channel

106 Examination of predicted loss-of-function mutations in field isolates indicates c

107 Loss-of-function mutations in genes encoding effector pr

108 Loss-of-function mutations in genes encoding either tran

109 Loss-of-function mutations in genes for heme biosyntheti

110 e combined immunodeficiency can be caused by loss-of-function mutations in genes involved in the DNA

111 In contrast, loss-of-function mutations in GLI1 have remained elusive

112 nnective tissues, and bone that is caused by loss-of-function mutations in GORAB.

113 Loss-of-function mutations in GRN cause frontotemporal d

114 Loss-of-function mutations in hERG (encoding the Kv11.1

115 Loss-of-function mutations in human endosomal Na(+)(K(+)

116 Patients carrying very rare loss-of-function mutations in interleukin-1 receptor-ass

117 Loss-of-function mutations in KCC2 are a known cause of

118 dominant leukodystrophy, and mouse and human loss-of-function mutations in lamin B1 are susceptibilit

119 ing with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-

120 We show that loss-of-function mutations in MDH2 are also associated w

121 a postnatal neurological disorder caused by loss-of-function mutations in MECP2, display impaired ex

122 e is a neurodevelopmental disorder caused by loss-of-function mutations in MECP2, the gene encoding t

123 e is a neurodevelopmental disorder caused by loss-of-function mutations in MECP2, the gene encoding t

124 Rett syndrome (RTT) arises from loss-of-function mutations in methyl-CpG binding protein

125 s that provide growth advantage to cells via loss-of-function mutations in microsatellites are called

126 Biallelic partial loss-of-function mutations in multiple components of the

127 der, later-onset NM and identified biallelic loss-of-function mutations in myopalladin (MYPN) in four

128 accumulation in Arabidopsis, resulting from loss-of-function mutations in NO Overexpression 1 (NOX1)

129 We also examined whether rare loss-of-function mutations in NOS3 and GUCY1A3 were asso

130 r, an aggressive neuroendocrine lung cancer, loss-of-function mutations in NOTCH genes and the inhibi

131 fection by Salmonella Typhimurium because of loss-of-function mutations in Nramp1 (SLC11A1), a phagos

132 Using whole-exome sequencing, we identified loss-of-function mutations in NSUN3 in a patient present

133 Loss-of-function mutations in ORGANELLE RNA RECOGNITION

134 report an autoinflammatory disease caused by loss-of-function mutations in OTULIN (FAM105B), encoding

135 ed, the data underscore the pathogenicity of loss-of-function mutations in POGZ and define a POGZ-rel

136 Loss-of-function mutations in progranulin (GRN), a secre

137 6 CLL families, identifying 4 families where loss-of-function mutations in protection of telomeres 1

138 Loss-of-function mutations in PTPN11, which encodes the

139 linked to psoriatic inflammation, especially loss-of-function mutations in pustular psoriasis subtype

140 Loss-of-function mutations in RCP1 lead to down-regulati

141 Loss-of-function mutations in ribonuclease H, senataxin,

142 from three unrelated families with biallelic loss-of-function mutations in RLTPR, the mouse orthologu

143 Loss-of-function mutations in RS1 lead to early vision i

144 Inherited loss-of-function mutations in SCN5A lead to defects in t

145 gh DNA sequencing, we studied the effects of loss-of-function mutations in selected genes.

146 ere, we report three unrelated families with loss-of-function mutations in SERPINB8 in association wi

147 We report the discovery of bi-allelic RORC loss-of-function mutations in seven individuals from thr

148 Loss-of-function mutations in SLC30A10, a cell-surface-l

149 aberrations, we identified three homozygous loss-of-function mutations in SMARCD2.

150 This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been asso

151 found to be most likely caused by homozygous loss-of-function mutations in SMG9, encoding an essentia

152 notype correlation between patients carrying loss-of-function mutations in SPAST and the presence of

153 Loss-of-function mutations in spermine synthase (SMS), a

154 eroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate ly

155 Loss-of-function mutations in SPOP compromise ubiquitina

156 We identified loss-of-function mutations in STAG2, as well as decrease

157 Loss-of-function mutations in SWI/SNF chromatin-remodeli

158 Loss-of-function mutations in TET2 occur frequently in p

159 Wiskott-Aldrich syndrome (WAS) patients have loss-of-function mutations in the actin regulator WASp a

160 We previously identified loss-of-function mutations in the angiopoietin (ANGPT) r

161 KRS is caused by recessive loss-of-function mutations in the ATP13A2 gene encoding

162 severe childhood epilepsy disorder caused by loss-of-function mutations in the brain voltage-gated so

163 children, largely results from heterozygous loss-of-function mutations in the brain voltage-gated so

164 Loss-of-function mutations in the BRCA1 and BRCA2 genes

165 ization in both lineages was associated with loss-of-function mutations in the BZP4 transcription fac

166 Loss-of-function mutations in the Ca2+ release-activated

167 Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (CAPN3) gene

168 ophysiology of cystic fibrosis (CF) in which loss-of-function mutations in the chloride channel CF tr

169 ngenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel

170 a complex inherited skin disorder caused by loss-of-function mutations in the COL7A1 gene.

171 An analysis of possible loss-of-function mutations in the collection uncovered p

172 Loss-of-function mutations in the common gamma (gammac)

173 Because rare, loss-of-function mutations in the DDC gene result in sev

174 Loss-of-function mutations in the DNA damage response ki

175 dition that is caused by autosomal recessive loss-of-function mutations in the dopamine transporter (

176 o and does not contribute to the drive, then loss-of-function mutations in the effector will eventual

177 erial calcification of infancy (GACI) due to loss-of-function mutations in the ENPP1 gene.

178 Loss-of-function mutations in the FLG gene cause ichthyo

179 Recent data has indicated that loss-of-function mutations in the GBA1 gene that encodes

180 parent Mineralocorticoid Excess is caused by loss-of-function mutations in the gene encoding 11beta-h

181 We identified homozygous loss-of-function mutations in the gene encoding CD55 (de

182 Loss-of-function mutations in the gene encoding laforin

183 Specifically, loss-of-function mutations in the gene encoding LegC4 re

184 Loss-of-function mutations in the gene encoding myotubul

185 individuals were found to possess biallelic loss-of-function mutations in the gene encoding the axon

186 er in a family that was linked to homozygous loss-of-function mutations in the gene encoding the endo

187 ically carried high-toxicity nasal strain by loss-of-function mutations in the gene encoding the tran

188 Loss-of-function mutations in the gene-encoding adaptor

189 eatening genetic vascular disorder caused by loss-of-function mutations in the genes encoding activin

190 our patients, revealed resistance-associated loss-of-function mutations in the genes encoding interfe

191 Loss-of-function mutations in the GLRA1 or GLRB genes, w

192 human CaV2.1 subunits.SIGNIFICANCE STATEMENT Loss-of-function mutations in the human CaV2.1 subunit a

193 der, Rett syndrome (RTT), which is caused by loss-of-function mutations in the human MECP2 gene.

194 Loss-of-function mutations in the human NBEAL2 gene or N

195 nked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding nu

196 About 300 loss-of-function mutations in the IKs channel have been

197 the peripheral blood of human patients with loss-of-function mutations in the IL-21 receptor (IL-21R

198 Loss-of-function mutations in the interleukin 36 (IL-36)

199 imately 20% of KRAS-mutant LUAD tumors carry loss-of-function mutations in the KEAP1 gene encoding Ke

200 Loss-of-function mutations in the laforin gene cause the

201 ith familial hypercholesterolaemia caused by loss-of-function mutations in the low-density lipoprotei

202 s a neurodevelopmental disorder arising from loss-of-function mutations in the maternally inherited c

203 l syndrome, a rare genetic disease caused by loss-of-function mutations in the matrix Gla protein (MG

204 Loss-of-function mutations in the MCOLN1 gene, which enc

205 Mucolipidosis IV is caused by loss-of-function mutations in the MCOLN1 gene, which enc

206 Loss-of-function mutations in the NFU3 gene caused yello

207 cessive lipid trafficking disorder caused by loss-of-function mutations in the NPC1 gene, is characte

208 lin (PGRN) haploinsufficiency resulting from loss-of-function mutations in the PGRN gene causes front

209 Loss-of-function mutations in the PLIN1 gene were recent

210 Biallelic loss-of-function mutations in the RNA-binding protein EI

211 derlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distin

212 rcent of patients have compound heterozygous loss-of-function mutations in the Shwachman-Bodian-Diamo

213 Loss-of-function mutations in the skin barrier protein f

214 Newly identified loss-of-function mutations in the SMARCD2 gene (part of

215 rvival motor neuron (SMN) protein because of loss-of-function mutations in the SMN1 gene.

216 entially fatal hereditary disorder caused by loss-of-function mutations in the survival motor neuron

217 Germline loss-of-function mutations in the transcription factor s

218 et motor disorder DYT6 dystonia is caused by loss-of-function mutations in the transcription factor T

219 Wiskott-Aldrich syndrome (WAS) is caused by loss-of-function mutations in the WASp gene.

220 Loss-of-function mutations in the WRN helicase gene caus

221 Loss-of-function mutations in the X-linked gene Methyl-C

222 In this study, we report somatic loss-of-function mutations in the X-linked histone H3K27

223 Furthermore, loss-of-function mutations in this TMD region cancelled

224 These studies demonstrate that biallelic loss-of-function mutations in THPO cause BMF, which is u

225 an families with PCH7, uncovering biallelic, loss-of-function mutations in TOE1, which encodes an unc

226 s a debilitating movement disorder caused by loss-of-function mutations in torsinA.

227 istance, we observed somatic and insertional loss-of-function mutations in transformation-related pro

228 we identified six individuals with biallelic loss-of-function mutations in TRIP13.

229 Loss-of-function mutations in TTC19 (tetra-tricopeptide

230 t of rapamycin (mTOR) kinase, as a result of loss-of-function mutations in tuberous sclerosis complex

231 Loss-of-function mutations in two riboflavin transporter

232 These loss-of-function mutations in UBE2T induced a cellular p

233 Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly c

234 The c-Kit loss-of-function mutations in WBB6F1/J-Kit(W/W-v) mice r

235 Loss-of-function mutations in Wnt coreceptor LDL recepto

236 ide a model for human patients with germline loss-of-function mutations in Wnt pathway genes, includi

237 ere these WNTs act in the skeleton; however, loss-of-function mutations in WNT1 cause bone fragility

238 ent with the human genetic finding that rare loss-of-function mutations in ZnT8 are associated with r

239 ing Runt domain and are thought to represent loss-of-function mutations, indicating that RUNX1 suppre

240 he role of complete gene inactivation by two loss-of-function mutations inherited in trans is well-es

241 urbed genes in human melanoma cells to mimic loss-of-function mutations involved in resistance to the

242 Progranulin (GRN) loss-of-function mutations leading to progranulin protei

243 2, DDX3X, KDM5C, KDM6A, and MAGEC3) harbored loss-of-function mutations more frequently in males (bas

244 Notably, both gain-of-function and loss-of-function mutations occur in cancers but are asso

245 is a haploinsufficient tumor suppressor with loss-of-function mutations occurring in human cancers.

246 Since loss of function mutations of PINK1 lead to early onset

247 Deletion or loss-of-function mutation of LKB1, frequently occurring

248 In mice with a loss-of-function mutation of the E3 ligase gene beta-Trc

249 The first of these is related to loss-of-function mutation of the TGF-beta/BMP receptor c

250 Loss-of-function mutations of beta-cell KATP channels ca

251 Recently, loss-of-function mutations of CTNNB1 were linked to inte

252 These are of interest for treating de novo loss-of-function mutations of DAT associated with neurop

253 Finally, the gain- and loss-of-function mutations of FBXW2 are found in various

254 OMOD1 is caused by loss-of-function mutations of glypican 6 (GPC6).

255 t-onset dystonia DYT25 is caused by dominant loss-of-function mutations of GNAL, a gene encoding the

256 Loss-of-function mutations of KIB1 and its homologs abol

257 Loss-of-function mutations of NALCN cause infantile hypo

258 Loss-of-function mutations of Parkin cause some monogeni

259 The loss-of-function mutations of serine protease inhibitor,

260 Somatic loss-of-function mutations of TET2 are frequently observ

261 ) is a severe salt-losing syndrome caused by loss-of-function mutations of the amiloride-sensitive ep

262 Cystic fibrosis (CF) is caused by loss-of-function mutations of the cystic fibrosis transm

263 In addition, loss-of-function mutations of the MYO18B gene have recen

264 Common examples of the former are loss-of-function mutations of the PBRM1 and BAP1 tumor s

265 Loss-of-function mutations of TREX1 are linked to Aicard

266 mportantly, we identify de novo heterozygous loss-of-function mutations of USP7 in individuals with a

267 ork was aimed at delineating the role of FLG loss-of-function mutations on eicosanoid metabolism in I

268 probands with or without identified de novo loss of function mutations or copy number variants in hi

269 Loss of function mutations or deletions in NF2 cause neu

270 o heart defects, while mice with monoallelic loss of function mutations or with tissue-specific inact

271 ole for PI(3,4)P2 in the phenotype caused by loss-of-function mutations or deletions in PTEN.

272 to evaluate the medical consequences of the loss of function mutation p.Ser267Phe in SLC10A1.

273 and 16 loci are known to be associated with loss-of-function mutations predominantly affecting centr

274 ne gain by lateral transfer and gene loss by loss-of-function mutation (pseudogenization), were funda

275 and found both patients to be homozygous for loss-of-function mutations (R18W and E323del).

276 tumours associated with germline BRCA1/BRCA2 loss of function mutations respond to DNA damaging agent

277 7 lead to spontaneous pain in humans whereas loss of function mutations results in congenital insensi

278 pression profiling of a patient with a RUNX1 loss-of-function mutation revealed a 10-fold downregulat

279 gma = 0.163, P = 8.2 x 10(-11)) and a second loss of function mutation, rs138326449 (beta = -1.17,sig

280 However, a recessive, loss-of-function mutation (S562L) in a putative S-glycos

281 Loss-of-function mutations tend to be distributed unifor

282 pt to a novel bacterial host through partial loss of function mutations that simultaneously increase

283 These phenotypes are suppressed by loss-of-function mutations that arise spontaneously in l

284 Loss-of-function mutations that impair function of the N

285 Huh7 hepatoma cells, the virus must acquire loss-of-function mutations that prevent PI4KA overactiva

286 1, which unexpectedly was scored by gain- or loss-of-function mutations that were capable of promotin

287 ssors that are frequently deleted or acquire loss-of-function mutations, the majority of TP53 mutatio

288 iagnosis with biallelic somatic deletion and loss-of-function mutation, thereby lacking a functional

289 We used loss-of-function mutations to define epistatic interacti

290 No rare loss-of-function mutation was identified in either WES o

291 In five out of six families, a second loss-of-function mutation was present on the trans allel

292 Plants homozygous for the iput1 loss-of-function mutation were unobtainable, and so the

293 Recurrently observed loss-of-function mutations were associated with decrease

294 Among these, loss-of-function mutations were identified in PARN in 2

295 Three types of mutations emerged: 1) loss-of-function mutations, which cause mild defects in

296 l defects in mice carrying additional Golgb1 loss-of-function mutations, which supported a crucial re

297 nked CNM, is caused by myotubularin 1 (MTM1) loss-of-function mutations, while the main autosomal dom

298 the case cohort, and identify several novel loss-of-function mutations within the associated loci.

299 sequencing approach, we identified recessive loss-of-function mutations within TTC25 in three individ

300 We performed studies in mice with a Zeb2 loss-of-function mutation (Zeb2(Delta)) and mice carryin