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

1 the CRAC channel, thus also functioning as a gain-of-function mutation.

2 o acids that includes Lys326, mutated in the gain-of-function mutation.

3 K6, next to K7 that was mutated in the other gain-of-function mutation.

4 diseases: classic VHL disease and HIF-2alpha gain-of-function mutation.

5 erated mice with the NS-associated Sos1E846K gain-of-function mutation.

6 o autoimmune astrocytopathies and to genetic gain of function mutations.

7 anodine receptor (RyR2) channels affected by gain-of-function mutations.

8 thromelalgia (IEM) has been linked to Nav1.7 gain-of-function mutations.

9 of MLK1 mutations identified in patients are gain-of-function mutations.

10 ffect is specific to HRas(V12) and KRas(L61) gain-of-function mutations.

11 romoted endogenous HCC carrying the intended gain-of-function mutations.

12 enabled us to classify the WT1 mutations as gain-of-function mutations.

13 ones observed in mice characterized by FGFR gain-of-function mutations.

14 ritically on Ser293 as revealed by loss- and gain-of-function mutations.

15 n of conformational bias induced by loss- or gain-of-function mutations.

16 , and p.Val162del lack-of-function or p.A69T gain-of-function mutations.

17 epilepsy therapy in individuals with GRIN2D gain-of-function mutations.

18 RPC6 mutations, the majority of which caused gain-of-function mutations.

19 monstrate that JAK2-V625F and JAK2-F556V are gain-of-function mutations.

20 -mediated silencing as a novel mode to treat gain-of-function mutations.

21 medicine through inactivation of many other gain-of-function mutations.

22 for the neuronal hyperexcitability by these gain-of-function mutations.

23 ns, and finally via activation by intragenic gain-of-function mutations.

24 y express alpha4 nAChR subunits harboring a "gain-of-function" mutation [a leucine mutated to a serin

25 torage disorder mucolipidosis type IV, and a gain-of-function mutation (Ala419Pro) in TRPML3 gives ri

26 Changes in the basal activity by gain-of-function mutations also resulted in predictable

27 t Mll-PTD contributes to leukemogenesis as a gain-of-function mutation and describe a novel murine mo

28 compared to wild-type plants, is caused by a gain-of-function mutation and is insensitive to exogenou

29 sitive IBC is characterized by frequent TP53 gain-of-function mutations and a high mutational burden.

30 nsient receptor potential channel C6 (TRPC6) gain-of-function mutations and increased TRPC6 expressio

31 nge of autoimmunity caused by germline STAT3 gain-of-function mutations, and that hematologic autoimm

32 tumors (GISTs) contain KIT or PDGFRA kinase gain-of-function mutations, and therefore respond clinic

33 ole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-

34 PIK3CA gain-of-function mutations are a common oncogenic event

35 Dominant SCN4A gain-of-function mutations are a well-established cause

36 While hotspots corresponding to specific gain-of-function mutations are expected for oncoproteins

37 n-containing protein 11 (CARD11), and CARD11 gain-of-function mutations are recurrently detected in h

38 Gain-of-function mutations are typically pain-causing an

39 We identified GRIN2B gain-of-function mutations as a cause of West syndrome w

40 Tsk2 point mutation is the first documented gain-of-function mutation associated with Col3a1, which

41 Most recently, the concept of gain-of-function mutations associated with PIDs has beco

42 Columbian times, is the result of a dominant gain-of-function mutation at the Tunicate (Tu) locus.

43 ries of chromatin regulator inactivation and gain-of-function mutations by documenting alteration of

44 partially recovered by BR treatment and the gain-of-function mutation bzr1-1D, which causes accumula

45 TRPC6 gain-of-function mutations cause autosomal dominant foca

46 These are dominant gain-of-function mutations causing enhanced STAT1 phosph

47 ies, monitoring disease progression in toxic gain of function mutations, clinical treatment trials (s

48 intellectual disability, suggest that Cav1.3 gain-of-function mutations confer a major part of the ri

49 Crucially, the gain-of-function mutations could be pharmacologically mo

50 e FGFR2c-Cys342Tyr being widely considered a gain-of-function mutation, Cys342Tyr substitution in the

51 This gain-of-function mutation dysregulates cytokine signalin

52 Sequencing PIK3CA exons identified gain-of-function mutations (E542K, H1047L or H1047R) in

53 Thus, whereas FHM1 gain-of-function mutations enhance hippocampal excitator

54 alters a DNA binding residue, and acts as a gain-of-function mutation enhancing cell survival.

55 model in which the most common somatic Ezh2 gain-of-function mutation (EZH2(Y646F) in human; Ezh2(Y6

56 Our results describe the first gain of function mutations for hGLUT2, revealing the imp

57 gh some autoinflammatory diseases are due to gain-of-function mutations for caspase-1 activity, commo

58 The enhanced sensitivity of KCNQ1 gain-of-function mutations for HMR-1556 suggests the pos

59 stantially increased by addition of a second gain-of-function mutation, G156P inactivation was abolis

60 BRAFV600E gain-of-function mutations have been observed in 57% of

61 Myocilin (MYOC) dominant gain-of-function mutations have been reported in approxi

62 b deregulation, notably those caused by EZH2 gain-of-function mutations, have provided a rationale fo

63 On the other hand, gain-of-function mutations highlight not only the presen

64 CBM lesions, including loss-of-function and gain-of-function mutations, highlights the contribution

65 Here we identify two new gain-of-function mutations (I43F and W170S) and characte

66 posing variant of Lyp appears to represent a gain-of-function mutation, implicating Lyp as an attract

67 Most MPD patients have a gain of function mutation in Janus kinase 2 (JAK2V617F),

68 The most common cause is a gain of function mutation in the potassium channel KCNT1

69 Constitutive activation of the UPR(mt) by gain of function mutations in atfs-1 fails to extend lif

70 ron (MN) damage in the disease, and dominant gain of function mutations in Cu/Zn superoxide dismutase

71 Gain of function mutations in ftsA, such as ftsA* (ftsA-

72 Gain of function mutations in GDH that abrogate GTP inhi

73 Dominant gain of function mutations in GFAP lead to the fatal neu

74 Rare gain of function mutations in NaV1.7 lead to spontaneous

75 We show for the first time that gain of function mutations in sodium channel Na(V)1.7, w

76 Gain of function mutations in the H3K27 methyltransferas

77 regulation of plasma sodium and volume, and gain of function mutations in the human channel cause sa

78 Individuals possessing gain of function mutations in the kinase domain such as

79 on genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor re

80 mice expressing the FHM type 1 (FHM1) R192Q gain-of function mutation in the CACNA1A gene that encod

81 We have previously shown that a gain-of-function mutation in a neuronal acetylcholine re

82 ted evolution was used to discover a further gain-of-function mutation in A1 that shifts the long ran

83 The identification of a gain-of-function mutation in CACNA1C as the cause of Tim

84 A gain-of-function mutation in CckA (Y674D) was identified

85 We identified a gain-of-function mutation in clh-3 that increases channe

86 osomal-dominant chondrodysplasia caused by a gain-of-function mutation in fibroblast-growth-factor-re

87 We identified iaa16-1, a dominant gain-of-function mutation in IAA16 (At3g04730), in a nov

88 Gain-of-function mutation in MCOLN3 causes the varitint-

89 ing this the third most frequently occurring gain-of-function mutation in melanoma.

90 derived cardiomyocytes from a patient with a gain-of-function mutation in Nav 1.5 (Long QT3 syndrome)

91 show that the disease is caused by a de novo gain-of-function mutation in NLRC4 encoding a p.Val341Al

92 cervical cancer cell lines, they harbored a gain-of-function mutation in p53 (R273C).

93 Thus, identification of a gain-of-function mutation in PRKG1 as a cause of thoraci

94 ing in mice carrying a human RyR2(R4496C+/-) gain-of-function mutation in response to pressure overlo

95 nduction in let-60(n1046gf), a strain with a gain-of-function mutation in the Caenorhabditis elegans

96 We present the first rodent model with a gain-of-function mutation in the cannabinoid type-1 rece

97 A dominant gain-of-function mutation in the ethylene receptor ETHYL

98 We found a novel gain-of-function mutation in the F5 gene (c.C2588G), whi

99 Food allergy-prone mice with a gain-of-function mutation in the IL-4 receptor alpha cha

100 Food allergy-prone mice with a gain-of-function mutation in the IL-4 receptor alpha cha

101 rointestinal stromal tumors (GISTs) harbor a gain-of-function mutation in the Kit receptor.

102 nt years due to the identification of a Jak2 gain-of-function mutation in the majority of patients wi

103 gulating the convulsive behavior caused by a gain-of-function mutation in the neuronal acetylcholine

104 a subtype of migraine with aura caused by a gain-of-function mutation in the pore-forming alpha1 sub

105 A missense, gain-of-function mutation in the sodium leak channel NAL

106 ntly inherited cerebellar ataxia caused by a gain-of-function mutation in the transient receptor pote

107 yndromic human deafness caused by a dominant gain-of-function mutation in Tmc1 (transmembrane channel

108 We identified a germline dominant gain-of-function mutation in TMEM173, which encodes stim

109 ome (APDS), a PID associated with a dominant gain-of-function mutation in which lysine replaced gluta

110 Gain-of-function mutations in A1 and GPIbalpha in VWD su

111 Gain-of-function mutations in ACVR1 occur in tumors of t

112 In contrast to known gain-of-function mutations in C3, patients affected by t

113 vent that can include epidermal injury, rare gain-of-function mutations in CARD14 initiate a process

114 Taken together, our findings suggest that gain-of-function mutations in Cav3.2 T-type Ca(2+) chann

115 Although relatively rare in aggregate, gain-of-function mutations in chromatin regulators repre

116 Here, we discuss the recently discovered gain-of-function mutations in chromatin-regulatory machi

117 Six of these had known gain-of-function mutations in CTNNB1 (beta-catenin) or G

118 FDFM is likely caused by gain-of-function mutations in different domains of ADCY5

119 50% of patients with chondrosarcomas exhibit gain-of-function mutations in either isocitrate dehydrog

120 lex disorder Cantu syndrome (CS) arises from gain-of-function mutations in either KCNJ8 or ABCC9, the

121 form of erythropoietic protoporphyria due to gain-of-function mutations in erythroid-specific 5-amino

122 In this paper, we have identified novel gain-of-function mutations in exon 6 of PPM1D that resul

123 lastic leukemia and in myeloid malignancies, gain-of-function mutations in EZH2 are frequently observ

124 men aged 39-90 y, we identified 11 distinct gain-of-function mutations in five genes (fibroblast gro

125 The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these m

126 ycin but that resistant mutants arise due to gain-of-function mutations in gudB, which encodes an oth

127 Gain-of-function mutations in histone 3 (H3) variants ar

128 enes are the most common targets for somatic gain-of-function mutations in human cancers.

129 This is key as gain-of-function mutations in human Nav1.7 recapitulate

130 Gain-of-function mutations in human PDGFRB have been lin

131 TBX20 gain-of-function mutations in humans are associated with

132 role of loss-of-function mutations in TET2, gain-of-function mutations in IDH1 and IDH2, and loss-of

133 ly discovered IL-7- and gamma(c)-independent gain-of-function mutations in IL-7Ralpha from B- and T-c

134 Gain-of-function mutations in iRHOM2 underlie Tylosis wi

135 Gain-of-function mutations in isocitrate dehydrogenase 1

136 Human pyrin with gain-of-function mutations in its B30.2/SPRY domain caus

137 CCND3 (n = 2), and EP300 (n = 5), as well as gain-of-function mutations in JAK2 (n = 2) and STAT3 (n

138 Gain-of-function mutations in JAZ2 prevent stomatal reop

139 Gain-of-function mutations in KCNJ2-encoded Kir2.1 chann

140 Gain-of-function mutations in KCNJ5 and apparent loss-of

141 hrough a forward genetic screen, we identify gain-of-function mutations in kinesin-1 that can compens

142 Gain-of-function mutations in Kir6.2 (KCNJ11), the pore-

143 Gain-of-function mutations in KIT or PDGFRalpha are key

144 ) this activation is achieved mainly through gain-of-function mutations in KRAS, NRAS or the receptor

145 mately 30% of human cancers harbor oncogenic gain-of-function mutations in KRAS.

146 Together, the present results suggest that gain-of-function mutations in Kv7.2/3 currents may cause

147 by human genetic studies identifying somatic gain-of-function mutations in L-type CaV 1.3 channels in

148 roach, we have identified three kinases with gain-of-function mutations in lung cancer, namely FGFR4,

149 Recent work has shown that gain-of-function mutations in mechanically activated Pie

150 Loss- and gain-of-function mutations in methyl-CpG-binding protein

151 Gain-of-function mutations in Nav1.9 have been identifie

152 ectrum of heritable pain disorders linked to gain-of-function mutations in Nav1.9, strengthening huma

153 Gain-of-function mutations in nicotinamide adenine dinuc

154 The discovery that dominant gain-of-function mutations in NLRP3 cause the cryopyrin-

155 Oncogenic gain-of-function mutations in NOTCH1 commonly occur in h

156 particular, we identified recurrent somatic gain-of-function mutations in NOTCH2, a gene encoding a

157 Malignant transformation, driven by gain-of-function mutations in oncogenes and loss-of-func

158 anomalies with overgrowth harbor postzygotic gain-of-function mutations in oncogenes.

159 Neoplasms are initiated by gain-of-function mutations in one of several primary onc

160 -of-function mutations in some patients, but gain-of-function mutations in others.

161 atic ductal adenocarcinoma in the setting of gain-of-function mutations in p53.

162 Both gain-of-function mutations in PCSK9 (causing marked incr

163 Gain-of-function mutations in PCSK9 are associated with

164 Gain-of-function mutations in PCSK9 associated with high

165 We sought to investigate the role of STAT1 gain-of-function mutations in phenotypes other than CMC.

166 Gain-of-function mutations in PIEZO1 cause an autosomal

167 istal Arthrogryposis Type 5 can be caused by gain-of-function mutations in PIEZO2.

168 e heterozygous for three different germline, gain-of-function mutations in PIK3CD (which encodes p110

169 tion is similar to that of patients carrying gain-of-function mutations in PIK3CD.

170 issue of the JCI, Deau et al. establish that gain-of-function mutations in PIK3R1, which encodes the

171 focusing on emerging paradigms that involve gain-of-function mutations in Rac and guanine nucleotide

172 Experiments using loss-of-function and gain-of-function mutations in Rac indicate that asymmetr

173 Dominant gain-of-function mutations in signal transducer and acti

174 Gain-of-function mutations in some genes underlie neurod

175 atal differentiation mutants due to loss- or gain-of-function mutations in SPEECHLESS, MUTE, and SCRE

176 cent progress includes the identification of gain-of-function mutations in STAT1 as a cause of an IPE

177 Gain-of-function mutations in STAT1 can cause an IPEX-li

178 Gain-of-function mutations in STAT1 predispose to invasi

179 AT3) cause immunodeficiency, whereas somatic gain-of-function mutations in STAT3 are associated with

180 nic migraine variant with aura, is linked to gain-of-function mutations in the CACNA1A gene encoding

181 Gain-of-function mutations in the calcium channel TRPC6

182 Gain-of-function mutations in the canonical transient re

183 ly, diffuse large B cell lymphoma-associated gain-of-function mutations in the caspase recruitment do

184 is unknown whether these mutations phenocopy gain-of-function mutations in the CTNNB1 gene encoding b

185 Here, we identify gain-of-function mutations in the cytoplasmic domain of

186 t frequent form of dwarfism and is caused by gain-of-function mutations in the fibroblast growth fact

187 s a rare immunodeficiency disorder caused by gain-of-function mutations in the G protein-coupled chem

188 h close parallels to mice and humans bearing gain-of-function mutations in the gamma2 subunit of AMPK

189 Gain-of-function mutations in the gene encoding beta-cat

190 Here we report two novel somatic gain-of-function mutations in the gene encoding hypoxia-

191 The suppressor strains harbour gain-of-function mutations in the gene encoding the Mg(2

192 lomerulosclerosis (FSGS) have been linked to gain-of-function mutations in the gene encoding the tran

193 Gain-of-function mutations in the gene encoding the V2 v

194 also suppressed the high basal activities of gain-of-function mutations in the HinRs, exoloops, and T

195 Gain-of-function mutations in the human SCN11A-encoded v

196 intramolecular ID binding, surprisingly, no gain-of-function mutations in the ID itself have been re

197 mphoblastic leukemia (T-ALL) patients harbor gain-of-function mutations in the intracellular domain o

198 estinal stromal tumors (GISTs) are caused by gain-of-function mutations in the Kit receptor tyrosine

199 Gain-of-function mutations in the LATCH or CARD disrupt

200 Gain-of-function mutations in the olfactomedin domain of

201 charomyces cerevisiae has identified several gain-of-function mutations in the P4-ATPase Dnf1 that fa

202 congenital disorder predominantly caused by gain-of-function mutations in the protein tyrosine phosp

203 associated with aggressive disease in which gain-of-function mutations in the RAS pathway are rare.

204 tosomal-dominant conditions characterized by gain-of-function mutations in the Ras pathway.

205 Genetic autopsies have detected "leaky" gain-of-function mutations in the ryanodine receptor-2 (

206 type 3 (LQT3) is a lethal disease caused by gain-of-function mutations in the SCN5A gene, coding for

207 ain syndromes arising from different sets of gain-of-function mutations in the sensory neuronal sodiu

208 Whereas gain-of-function mutations in the transcription activato

209 show that both strains harbor dominant (d), gain-of-function mutations in the Transient Receptor Pot

210 Our results demonstrate that gain-of-function mutations in the tumor suppressor SAMD9

211 (EIEE13), is caused predominantly by de novo gain-of-function mutations in the voltage-gated Na chann

212 Gain-of-function mutations in the voltage-gated sodium c

213 al nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed, hous

214 The persistence and recurrence of noncoding gain-of-function mutations in these cases suggests that

215 channels regulate neuronal excitability, and gain-of-function mutations in these proteins result in a

216 in congenital insensitivity to pain, whereas gain-of-function mutations in this gene produce distinct

217 VI) is an autoinflammatory disease caused by gain-of-function mutations in TMEM173.

218 pathy with onset in infancy (SAVI) caused by gain-of-function mutations in TMEM173.

219 Gain-of-function mutations in transmembrane protein 173

220 Gain-of-function mutations in TRP channels have not been

221 Gain-of-function mutations in TRPC6, a slit diaphragm-as

222 se type 2B (vWD-type 2B) is characterized by gain-of-function mutations in von Willebrand factor (vWF

223 cancers, particularly those harbouring Notch gain of function mutations, including T-cell acute lymph

224 This gain-of-function mutation increases glutamate and glycin

225 Homozygosity for such gain-of-function mutations is thought to modulate tumor

226 overexpression of surface NOTCH1 or acquired gain-of-function mutations, is involved in both T-ALL in

227 Introduction of a gain-of-function mutation (L9'F) in the second transmemb

228 Known loss- and gain-of-function mutations map closely to the hormone-bi

229 These results suggest that this potent gain of function mutation may be "detoxified" by modulat

230 X-linked agammaglobulinemia (XLA); however, gain-of-function mutations may also promote immune defic

231 Histone H3 lysine(27)-to-methionine (H3K27M) gain-of-function mutations occur in highly aggressive pe

232 Conversely, a gain-of-function mutation of lgc-46 shortens evoked rele

233 mEC neuron excitability associated with the gain-of-function mutation of Nav1.6 may increase excitat

234 combined immunodeficiency disease caused by gain-of-function mutation of the chemokine receptor CXCR

235 rization of the Curl (Cu) mutant, a dominant gain-of-function mutation of TKN2, which displays ectopi

236 It is shown that the gain-of-function mutation of TTP impairs IL-10-mediated

237 Overall, our results reveal two novel gain-of-function mutations of ALK in certain ATCs, and t

238 Because gain-of-function mutations of BRAF can transform fibrobl

239 Gain-of-function mutations of classic transient receptor

240 Germline loss- and gain-of-function mutations of G-protein alpha-11 (Galpha

241 istasis, a promiscuous intermediate, and few gain-of-function mutations of large effect.

242 Moreover, germline and somatic gain-of-function mutations of MALT1, BCL10, and CARD11 h

243 t could result from the loss-of-function and gain-of-function mutations of metabolic enzymes, respect

244 More recently, gain-of-function mutations of NaV1.8 have been found in

245 Gain-of-function mutations of NLRP3 result in abnormal a

246 Hence, genetic gain-of-function mutations of Nrg1 are also risk factors

247 evelopmental hematopoiesis in the mouse, and gain-of-function mutations of SHP2 are associated with h

248 Gain-of-function mutations of sodium channel NaV1.7 have

249 in inherited erythromelalgia (IEM) in which gain-of-function mutations of sodium channel NaV1.7 make

250 Gain-of-function mutations of the isocitrate dehydrogena

251 Gain-of-function mutations of the proprotein convertase

252 growth factor receptor in hematopoiesis, and gain-of-function mutations of the receptor contribute to

253 Loss- and gain-of-function mutations of the X-linked gene MECP2 (m

254 Several studies have identified gain-of-function mutations of TRPC6 and report induced e

255 ted in 42 putative loss-of-function (LoF) or gain-of-function mutations per person.

256 Gain-of-function mutations produce pain syndromes includ

257 70S) and characterize these along with known gain-of-function mutations (Q226E, V280M, and R414H) to

258 inducible expression of an RAF1 gene with a gain-of-function mutation (RAF1(S259A)) that is associat

259 d erythromelalgia (IEM), a disorder in which gain-of-function mutations render dorsal root ganglia (D

260 FHH2- and ADH2-associated Galpha11 loss- and gain-of-function mutations, respectively.

261 show a delay in axonal sorting; conversely, gain-of-function mutations result in accelerated sorting

262 ome with low bone mass, whereas heterozygous gain-of-function mutations result in van Buchem disease

263 nac017 were more stress sensitive, whereas a gain-of-function mutation resulted in plants that had lo

264 HIF2A gain-of-function mutations resulted in a reduction in ne

265 JAK2(V617F) is a gain-of-function mutation resulting in constitutive JAK2

266 Gain-of-function mutations shortened the action potentia

267 model of cerebellar ataxia, carry a dominant gain-of-function mutation (T635A) in the TRPC3 gene.

268 In particular, recurrent gain-of-function mutations targeting EZH2 Y641 occur mos

269 We also identify recurrent gain-of-function mutations targeting PLCG1 (9%) and JAK1

270 ed uniformly along protein sequence, whereas gain-of-function mutations tend to localize to key regio

271 Ablation of syndecan-1 in mice is a gain of function mutation that enables mice to significa

272 2 channels with Ca(v)1.2 channels carrying a gain-of-function mutation that causes arrhythmias and au

273 e with endogenous synaptobrevin, acting as a gain-of-function mutation that impedes SNARE function, r

274 istinct genetic condition caused by a PDGFRB gain-of-function mutation that is associated with a spec

275 A gain-of-function mutation that promotes Bam activity (ba

276 Gain-of-function mutations that activate the innate immu

277 strategy makes CARD11 highly susceptible to gain-of-function mutations that are frequently observed

278 Two KCNQ1 gain-of-function mutations that cause a genetic form of

279 Somatic gain-of-function mutations that drive cancer pathogenesi

280 It results from gain-of-function mutations that exaggerate the signal ou

281 Four gain-of-function mutations that form a hyperactive or de

282 These two rare variants acted as gain-of-function mutations that increased the transcript

283 mutations in PLCgamma2 are both potentially gain-of-function mutations that lead to autonomous B-cel

284 ly, member 14 (CARD14), we identified unique gain-of-function mutations that segregated with psoriasi

285 Gain-of-function mutations that truncate the C-terminus

286 n to block fibrin accumulation or a Gi2alpha gain-of-function mutation to expand the thrombus shell.

287 nock-in mouse model expressing this dominant gain-of-function mutation to investigate the pathology o

288 Histone Lys-to-Met (K-to-M) mutations act as gain-of-function mutations to inhibit a wide range of hi

289 As our previous work has shown that GNAS gain-of-function mutations upregulate WNT-beta-catenin s

290 To interfere with RHODOPSIN (RHO) gain-of-function mutations we engineered the ZF6-DNA-bin

291 HIF-2alpha gain-of-function mutations were associated with pulmonar

292 JAK1 and STAT3 gain-of-function mutations were found in some, but not a

293 ssociated with the SQT2-related V307L KCNQ1 'gain-of-function' mutation, which increases slow-delayed

294 We report a novel KIT gain-of-function mutation with S628N substitution (exon

295 ations are distinct from those driven by WNT gain-of-function mutations, with implications for identi

296 By taking advantage of a unique gain-of-function mutation within the STIM1 transmembrane

297 We have also identified a gain-of-function mutation within this pocket that, when

298 ns mutants resistant to statins by virtue of gain-of-function mutations within the first six amino ac

299 ctive advantage for more strongly activating gain-of-function mutations within the same gene.

300 This gain-of-function mutation works without recovery of the