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

1 ements taken from human Dent1 disease (CLCN5 loss-of-function mutation).

2 an alteration in gene function rather than a loss-of-function mutation.

3 ic brain somatic mutation in PIN1 leads to a loss-of-function mutation.

4 s helicase function, suggesting that it is a loss-of-function mutation.

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

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

7 ution representing an atheroprotective PCSK9 loss-of-function mutation.

8 were similar to those observed with ANGPTL3 loss-of-function mutations.

9 e phenotype and thus represent likely severe loss-of-function mutations.

10 se data indicate that the variants behave as 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 observed for synonymous, non-synonymous and loss-of-function mutations.

17 therapeutic strategy for cancers with MLL3/4 loss-of-function mutations.

18 FR amplifications and Sub1, Trp53, and Tead2 loss-of-function mutations.

19 t of genes, and the recessive nature of most loss-of-function mutations.

20 n programs through easily acquired gain- and loss-of-function mutations.

21 Here, we show significant enrichment of loss-of-function mutations affecting H2Bub1 in CHD patie

22 equences resulting from gain-of-function and loss-of-function mutations affecting insulin-like growth

23 Loss-of-function mutations affecting MeCP2 are the prima

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

25 Evidence for loss-of-function mutations among these candidates is mor

26 brafish that permits the rapid generation of loss of function mutations and the knock-in of specific

27 communication in axon guidance and that both loss-of-function mutation and a gain-of-function mutatio

28 predisposition in both carriers of germline loss-of-function mutations and genetically engineered mo

29 rly any gene of interest for the creation of loss-of-function mutations and many other types of editi

30 r validation, we identified carriers of ALG9 loss-of-function mutations and noncarrier matched contro

31 We demonstrated that an array of loss-of-function mutations are dominant over most gain-o

32 For FRI, loss-of-function mutations are positively selected and w

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

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

35 l ligand identification and the discovery of loss-of-function mutations associated with human disease

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

37 ere we show that phosphorylation or gain- or loss-of-function mutations at either of two adjacent ser

38 Loss-of-function mutation by T-DNA insertion in AtPAT21

39 The ced-3 loss-of-function mutation can significantly suppress the

40 PARN loss-of-function mutations cause a severe form of the he

41 esult in neonatal diabetes mellitus, whereas loss-of-function mutations cause hyperinsulinaemic hypog

42 using mutations and decreased firing for the loss-of-function mutation causing intellectual disabilit

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

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

45 ccRCC patients with VHL loss-of-function mutations displayed elevated SFMBT1 pro

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

47 Loss-of-function mutations had heterogeneous effects on

48 Homozygous carriers of loss-of-function mutations had little or no Lp(a) and in

49 Here, I speculate that easier access to loss-of-function mutations has led them to play a major

50 More than 50 missense and loss-of-function mutations have been described and are s

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

52 ilizing STIL, cells from patients with USP9X loss-of-function mutations have reduced STIL levels.

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

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

55 FecB mutation, regarded as a loss of function mutation in the BMPR-IB gene was identi

56 We compare a new mouse model with loss of function mutations in both Gtf2i and Gtf2ird1 to

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

58 Loss of function mutations in COMT reduces syringyl (S)

59 Patients with loss of function mutations in DDR2 develop spondylo-meta

60 Alagille syndrome patients present with loss of function mutations in either JAG1 or NOTCH2.

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

62 d conditioned fear that are not explained by loss of function mutations in Gtf2i and Gtf2ird1.

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

64 Loss of function mutations in KCNK3 (potassium channel s

65 The disease is caused by loss of function mutations in the choline kinase beta (C

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

67 We previously reported loss of function mutations in the receptor tyrosine kina

68 ortical processing phenotypes resulting from loss of function mutations in the Setd1a gene, a recentl

69 d demyelinating neuropathy that results from loss of function mutations in the SH3TC2 gene.

70 ting factor receptor (CSF3R), cooperate with loss of function mutations in the transcription factor C

71 Loss of function mutations in the type II BMP receptor B

72 Although loss of function mutations in the ubiquitin ligase, park

73 Loss-of function mutations in Orai1 Ca2+ channels lead t

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

75 patients, carriers for a naturally occurring loss-of-function mutation in CCR5 (CCR5-Delta32) exhibit

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

77 Three-week-old mice heterozygous for a loss-of-function mutation in forkhead box I3 (FOXI3), a

78 equencing (RNA-seq) analyses revealed that a loss-of-function mutation in JMJ17 caused an ectopic inc

79 Loss-of-function mutation in QSK1 results in delayed lat

80 antly, we showed that a CRISPR/Cas9-mediated loss-of-function mutation in the gene encoding the pathw

81 Hypothesizing that loss-of-function mutation in the lipid-metabolism-relate

82 nce may be explained by their harboring of a loss-of-function mutation in the Rv1258c efflux pump tha

83 intellectual disability syndrome caused by a loss-of-function mutation in the spermine synthase (SMS)

84 A loss-of-function mutation in tomato SlGPAT6 similarly re

85 ce, a murine model with a homozygous partial loss-of-function mutation in Vps54 (GARP protein) that c

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

87 nt vascular disorder caused by heterozygous, loss-of-function mutations in 4 transforming growth fact

88 ous and complex group of disorders caused by loss-of-function mutations in a multitude of genes that

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

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

91 l was significantly longer for patients with loss-of-function mutations in any of the targeted genes

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

93 Recessive loss-of-function mutations in ATP13A2 (PARK9) are associ

94 Loss-of-function mutations in BMP9, its receptors, and d

95 Loss-of-function mutations in both alleles of the human

96 Germline loss-of-function mutations in BRCA1 interacting protein

97 lished murine model of SCLC to rapidly model loss-of-function mutations in candidate genes identified

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

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

100 quencing of bladder cancer has revealed that loss-of-function mutations in chromatin regulators and m

101 While loss-of-function mutations in Cockayne syndrome group B

102 ) is a debilitating genodermatosis caused by loss-of-function mutations in COL7A1 encoding type VII c

103 HUS) is frequently associated in humans with loss-of-function mutations in complement-regulating prot

104 -catenin in the ventral hindgut via gain- or loss-of-function mutations in Ctnnb1 or Apc, respectivel

105 Loss-of-function mutations in DJ-1 were found to cause a

106 thelioma, the relationship between inherited loss-of-function mutations in DNA repair and other tumor

107 sensitivity to platinum chemotherapy due to loss-of-function mutations in DNA repair genes.

108 In humans, loss-of-function mutations in DOCK8, a guanine exchange

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

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

111 the human disease and bear a combination of loss-of-function mutations in either Tet2 or Dnmt3a alon

112 Loss-of-function mutations in epigenetic regulators such

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

114 We previously described biallelic loss-of-function mutations in EXPH5 in an autosomal rece

115 lymphoid malignancies, which harbor frequent loss-of-function mutations in EZH2.

116 xtreme SCC susceptibility caused by germline loss-of-function mutations in FA DNA repair pathway gene

117 erentiation and the consequences of CBP/p300 loss-of-function mutations in follicular lymphoma.

118 h has several known genetic causes, and with loss-of-function mutations in forkhead box N1 (FOXN1).

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

120 Loss-of-function mutations in genes involved in glucosin

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

122 crease in the frequency of somatic biallelic loss-of-function mutations in genes related to homologou

123 hat paralysis-resistant mutants all harbored loss-of-function mutations in genes required for cilioge

124 Bi-allelic loss-of-function mutations in genes required for the de

125 Loss-of-function mutations in genes that encode for comp

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

127 Loss-of-function mutations in glutaminase (GLS), the enz

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

129 framework for understanding how heterozygous loss-of-function mutations in histone-modifying enzymes

130 Loss-of-function mutations in human NaCT cause severe co

131 overies and analyses of humans with germline loss-of-function mutations in IL21 or IL21R have reveale

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

133 Mendelian genetics attributes loss-of-function mutations in key mitophagy regulators P

134 Loss-of-function mutations in LPL or GPIHBP1 cause sever

135 Epigenetic modifiers frequently harbor loss-of-function mutations in lung cancer, but their tum

136 The loss-of-function mutations in many of these genes, inclu

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

138 The identification of loss-of-function mutations in MKRN3 in patients with cen

139 fected individuals, we identified bi-allelic loss-of-function mutations in more than 30% of the teste

140 The pleiotropic metabolic effect of loss-of-function mutations in MRAP2 might be due to the

141 Two additional loss-of-function mutations in MYB10 were identified amon

142 Loss-of-function mutations in Na(V)1.7 cause congenital

143 Loss-of-function mutations in nine of the 12 genes limit

144 The syndrome is caused by loss-of-function mutations in NR2F1, which encodes a hig

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

146 Loss-of-function mutations in ORGANELLE RNA RECOGNITION

147 and biogenesis, and clarifies how pathogenic loss-of-function mutations in P/rds cause photoreceptor

148 Here, we identified two homozygous biallelic loss-of-function mutations in PIK3CD and TNFRSF9 in a pa

149 , we report a human patient with bi-allelic, loss-of-function mutations in PIK3CG resulting in absenc

150 Cultures harboring loss-of-function mutations in PKHD1 also recapitulate th

151 velopment of aneurysm caused by heterozygous loss-of-function mutations in positive effectors of the

152 ammatory interferonopathy caused by additive loss-of-function mutations in proteasome genes.

153 Loss-of-function mutations in proteins found at glyciner

154 -sequencing approach to identify 2 biallelic loss-of-function mutations in PTPRJ that caused autosoma

155 (n = 94) harbor chromosomal deletions and/or loss-of-function mutations in RB1 and TP53 (88% carry al

156 an example, we generated EHA105 strains with loss-of-function mutations in recA, which were fully fun

157 from six unrelated pedigrees with biallelic loss-of-function mutations in RIPK1 presenting with prim

158 Consequently, loss-of-function mutations in Ruby result in an anthocya

159 -onset epilepsy associated with heterozygous loss-of-function mutations in SCN1A Animal models of DS

160 (2020) describe loss-of-function mutations in SERPINA12 as a cause of di

161 nia (DYT11) is a movement disorder caused by loss-of-function mutations in SGCE and characterized by

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

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

164 Loss-of-function mutations in SLC39A14 cause severe hype

165 Homozygous loss-of-function mutations in SLC39A8 result in undetect

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

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

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

169 Loss-of-function mutations in SPOP compromise ubiquitina

170 Loss-of-function mutations in SPRED1 occur in human canc

171 cle fibres in humans and show that recessive loss-of-function mutations in SVIL cause a distinctive a

172 set of a myopathy associated with homozygous loss-of-function mutations in SVIL.

173 and TBC1D24-associated epilepsy, while also loss-of-function mutations in Synj1 are associated with

174 anosmic form of IGD (Kallmann syndrome) with loss-of-function mutations in TCF12, a locus also known

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

176 Finally, we showed that loss-of-function mutations in the ABCC4 gene, associated

177 Loss-of-function mutations in the ABCC6 gene cause pseud

178 2 (ADA2) activity due to autosomal-recessive loss-of-function mutations in the ADA2 gene (previously

179 riovenous malformations (AVMs), is caused by loss-of-function mutations in the ALK1/ENG/Smad1/5/8 pat

180 somal recessive obesity ciliopathy caused by loss-of-function mutations in the ALMS1 gene.

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

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

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

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

185 Similarly, loss-of-function mutations in the C. elegans REST orthol

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

187 Loss-of-function mutations in the copper (Cu) transporte

188 Loss-of-function mutations in the cystic fibrosis transm

189 efit for cystic fibrosis (CF) caused by many loss-of-function mutations in the cystic fibrosis transm

190 Loss-of-function mutations in the E3 ubiquitin ligase pa

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

192 LD is caused by loss-of-function mutations in the EPM2A or the NHLRC1 ge

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

194 (HI), a devastating skin disorder caused by loss-of-function mutations in the gene ABCA12, is poorly

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

196 Loss-of-function mutations in the gene encoding human pr

197 lized pustular psoriasis (GPP), is linked to loss-of-function mutations in the gene encoding IL-36RA,

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

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

200 r XopJ4 perception were identified as having loss-of-function mutations in the gene encoding the nucl

201 and metabolic syndrome, and identified novel loss-of-function mutations in the gene encoding the panc

202 We demonstrate that loss-of-function mutations in the H3K36 histone methyltr

203 Loss-of-function mutations in the histone demethylases K

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

205 We found that loss-of-function mutations in the insulin pathway impact

206 is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene.

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

208 Loss-of-function mutations in the LDL (low-density lipop

209 Loss-of-function mutations in the LUBAC components HOIP

210 In humans, loss-of-function mutations in the MAGT1 gene cause X-lin

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

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

213 y-onset neurodegenerative syndrome caused by loss-of-function mutations in the multiple inositol-poly

214 Loss-of-function mutations in the NGLY1 gene cause NGLY1

215 Loss-of-function mutations in the nonconventional myosin

216 erized by cholesterol accumulation caused by loss-of-function mutations in the Npc1 gene.

217 (2020) demonstrate that gain- and loss-of-function mutations in the peroxisomal acyl-CoA o

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

219 Individuals carrying loss-of-function mutations in the phosphatase and tensin

220 lta (referred to as type 1 APDS) or dominant loss-of-function mutations in the PIK3R1 gene encoding t

221 Single-copy loss-of-function mutations in the progranulin gene (PGRN

222 icase, is critical for genome stability, and loss-of-function mutations in the RECQ1 gene are associa

223 ociated with psoriasis and related diseases, loss-of-function mutations in the same gene are associat

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

225 y heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten pati

226 Loss-of-function mutations in the SPART gene cause Troye

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

228 Spinal muscular atrophy (SMA) is caused by loss-of-function mutations in the survival of motoneuron

229 However, cancers with loss-of-function mutations in the SWI/SNF complex have f

230 Pseudomonas aeruginosa strains with loss-of-function mutations in the transcription factor L

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

232 0% of small cell lung cancers (SCLCs) harbor loss-of-function mutations in the tumor suppressor gene

233 Loss-of-function mutations in the Wnt inhibitor secreted

234 is an autosomal dominant dystonia caused by loss-of-function mutations in the zinc finger transcript

235 These individuals harbor PC1 loss-of-function mutations in their cardiomyocytes, but

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

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

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

239 phocyte development, PI3K-AKT/mTOR (6%), and loss-of-function mutations in TP53 (12%) were also ident

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

241 Human genetic studies have shown that the loss-of-function mutations in TREM2 signaling are strong

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

243 Loss-of-function mutations in two genes, thyA and deoB,

244 Although loss-of-function mutations in UFM1 conjugation are linke

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

246 dentified in total 14 different heterozygous loss-of-function mutations in ZMYM2 in 15 unrelated fami

247 Loss-of-function mutations in ZnT8 are associated with p

248 expression of ZNF445 and its intolerance to loss-of-function mutations indicate greater importance i

249 re assessed by the probability of NPC1 being loss-of-function mutation intolerant and Z-scores of obs

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

251 t the heterozygous knock out of SCN2A, whose loss-of-function mutation is strongly implicated in auti

252 -MC gene fusion, previously believed to be a loss-of-function mutation, is an active TF with represso

253 As loss-of-function mutations lead to salt wasting and low

254 We hypothesized that filaggrin (FLG) loss-of-function mutations modify the effect of allergen

255 FLG loss-of-function mutations modify the relationship betwe

256 2, DDX3X, KDM5C, KDM6A, and MAGEC3) harbored loss-of-function mutations more frequently in males (bas

257 Loss of function mutations of the chorein-encoding gene

258 n-sensitive mutations, we isolated caa1-1, a loss-of-function mutation of the cytosolic form of aspar

259 Mice carrying a heterozygous loss-of-function mutation of the orthologous gene exhibi

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

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

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

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

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

265 Loss-of-function mutations of GVS1 in Columbia-0 delayed

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

267 a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding cy

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

269 Somatic loss-of-function mutations of the transcriptional corepr

270 Loss-of-function mutations of the X-chromosome gene UPF3

271 Loss-of-function mutations of these genes constitute a r

272 In summary, our findings establish that loss-of-function mutations of ZMYM2, and potentially tha

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

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

275 e bearing human ALS-associated TBK1 missense loss-of-function mutations, or mice in which the Tbk1 ge

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

277 function cancer-associated mutations and all loss-of-function mutations physically localize to distin

278 tasets (adjusted OR = 1.55, P = 0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncha

279 engineered to express single or multiplexed loss-of-function mutations recurrent in chronic lymphocy

280 advances include recent work showing gain or loss-of-function mutations relating to driver or bystand

281 transport, is unique among effectors because loss-of-function mutations result in severe intracellula

282 ecause homomeric GlyRs are more sensitive to loss-of-function mutations than heteromers.

283 irmed the primary mechanism of NalD action-a loss-of-function mutation that caused constitutive overe

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

285 al solution due to the high accessibility to loss-of-function mutations that block the path to the hi

286 diverse range of genes affected by gain- or loss-of-function mutations that contribute to S. aureus

287 of the mutations that lead to adaptation are loss-of-function mutations that impair or eliminate the

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

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

290 utations have been identified but no obvious loss of function mutations, though large heterozygous de

291 Loss-of-function mutations to any of three genes results

292 vitro activity for SLC35D1 p.(Thr65Pro), the loss-of-function mutation was associated with Schneckenb

293 Treg presence in tissues harboring CBP/p300 loss-of-function mutations was observed in follicular ly

294 sing reporter assays, RNA-seq, ChIP-seq, and loss-of-function mutations, we can show that all of thes

295 a homozygous, maternal zygotic snx14 genetic loss-of-function mutation were both viable and anatomica

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

297 1 mtDNA mutations in 284 tumors including 45 loss-of-function mutations, which clustered at four stat

298 gistry uncovered recurrent biallelic TMEM30A loss-of-function mutations, which were associated with a

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

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