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

1 NG and TA are caused by a somatic activating gain-of-function mutation.

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

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

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

5 wild-type CEACAM5, indicating that they are gain-of-function mutations.

6 matic cycle is detuned by disease-associated gain-of-function mutations.

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

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

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

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

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

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

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

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

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

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

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

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

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

20 ritic cell (FDC) networks and recurrent EZH2 gain-of-function mutations.

21 yperekplexia, which can be triggered by GlyR gain-of-function mutations.

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

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

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

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

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

27 ctor kappaB and T-cell anergy (heterozygous, gain-of-function mutations), and severe atopic disease (

28 f GlyRs, carrying the yet understudied T258F gain-of-function mutation, and found that this mutation

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

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

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

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

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

34 s of human neonatal diabetes in which K(ATP) gain-of-function mutations are expressed in beta-cells (

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

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

37 hC, and a hypothetical membrane protein) and gain-of-function mutations (aroE Thr182Ile, yhcF Thr74Il

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

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

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

41 We have identified a gain-of-function mutation, bamA (E470K) , that bypasses

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

43 s-of-function CaM mutation, CaM (1-4), and a gain-of-function mutation, CaM-M37Q, into the anterior w

44 CASR loss- or gain-of-function mutations cause familial hypocalciuric

45 lar degeneration and leukodystrophy, whereas gain-of-function mutations cause hyperaldosteronism.

46 STING gain-of-function mutations cause lung disease and T cell

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 C6 activity from enhanced gene expression or gain-of-function mutations contribute to cardiac and/or

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

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

52 studies reveal mechanisms through which CaV2 gain-of-function mutations disrupt excitation-inhibition

53 primary immunodeficiency, and somatic CARD11 gain-of-function mutations drive constitutive NF-kappaB

54 This gain-of-function mutation dysregulates cytokine signalin

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

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

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

58 ing a combination of approaches, we identify gain-of-function mutations for BhCas12b that overcome th

59 nd that both loss-of-function mutation and a gain-of-function mutation (G2019S) cause axon guidance d

60 A gain-of-function mutation, H443P in NLRC4, causes famili

61 TRPV3 gain-of-function mutations have been identified in patie

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

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

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

65 This gain-of-function mutation highlights a specific, nonredu

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

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

68 A gain-of-function mutation implicated a membrane and ESCR

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

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

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

72 sh, we demonstrate that endothelial-specific gain of function mutations in Kras (G12D or G12V) are su

73 Gain of function mutations in MEFV responsible for the a

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

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

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

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

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

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

80 ircuit in FHM1 mice of both sexes carrying a gain-of-function mutation in Ca(V)2.1.

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

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

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

84 Del2.5 is the first reported gain-of-function mutation in LDLR causing a large reduct

85 To date, a gain-of-function mutation in LDLR with a large effect on

86 identified a recurrent and oncogenic hotspot gain-of-function mutation in myeloid cytokine receptor C

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

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

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

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

91 For example, a gain-of-function mutation in stimulator of interferon ge

92 in mice that have a human disease-associated gain-of-function mutation in STING.

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

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

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

96 Recently, a gain-of-function mutation in the G-protein gene GNB2 led

97 rminacy is modulated by a post-domestication gain-of-function mutation in the gene, Dt2, which encode

98 For the first time, an inherited gain-of-function mutation in the human GIRK3.4 causes fa

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

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

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

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

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

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

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

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

107 Some of these tumors combine gain-of-function mutations in ACVR1, PIK3CA, and histone

108 sient expression techniques create loss- and gain-of-function mutations in black-grass with genotype

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

110 Most known oncogenes were identified by gain-of-function mutations in cancer, yet little is know

111 Although dominant gain-of-function mutations in CARD14 are associated with

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

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

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

115 tations in complement-regulating proteins or gain-of-function mutations in complement-activating prot

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

117 nleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (

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

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

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

121 C1 esterase-inhibitor (C1INH) deficiency or gain-of-function mutations in factor XII (FXII) cause he

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

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

124 ts with Cantu syndrome, a disorder caused by gain-of-function mutations in genes encoding Kir6.1 or S

125 ts with Cantu syndrome, a disorder caused by gain-of-function mutations in genes encoding Kir6.1/SUR2

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

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

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

129 Autosomal dominant gain-of-function mutations in human stimulator of interf

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

131 Gain-of-function mutations in isocitrate dehydrogenase 1

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

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

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

135 Gain-of-function mutations in KCNT1, the gene encoding S

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

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

138 We identified gain-of-function mutations in KRAS or BRAF genes in path

139 Here, we demonstrate gain-of-function mutations in KRAS or BRAF genes within

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

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

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

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

144 aused by homozygous or compound heterozygous gain-of-function mutations in MEFV, which encodes pyrin,

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

146 mall fiber neuropathy (SFN) may be caused by gain-of-function mutations in Nav1.8, a sodium channel s

147 block of TTX-resistant currents, enhanced by gain-of-function mutations in Nav1.8, can make major con

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

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

150 Gain-of-function mutations in nicotinamide adenine dinuc

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

152 L, are characterized by heterozygous somatic gain-of-function mutations in nonsyndromic children, whe

153 Additionally, gain-of-function mutations in NOTCH2 are associated with

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

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

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

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

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

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

160 illustrated by the fact that both loss- and gain-of-function mutations in PI3K can cause immunodefic

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

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

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

164 ith monogenic immune dysregulation caused by gain-of-function mutations in PIK3CD, encoding the p110d

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

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

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

168 It is well accepted that gain-of-function mutations in SCN8A underlie the disorde

169 functions as a RAF S259 holophosphatase and gain-of-function mutations in SHOC2, MRAS, and PP1 that

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

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

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

173 Recently, gain-of-function mutations in STING have been identified

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

175 SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for wh

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

177 is a rare primary immunodeficiency caused by gain-of-function mutations in the CXCR4 gene.

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

179 tivate this sigma(I) stress response acquire gain-of-function mutations in the essential histidine ki

180 Importantly, the assay is stimulated by gain-of-function mutations in the Exo70 component of the

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

182 Using bioinformatics, we identified Glt(Ph) gain-of-function mutations in the flexible helical hairp

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

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

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

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

187 rome (MAS) is a mosaic disorder arising from gain-of-function mutations in the GNAS gene, which encod

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

189 Gain-of-function mutations in the human TRPC6 channel ca

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

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

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

193 ch aberrant mast cells accumulate because of gain-of-function mutations in the KIT receptor.

194 Recently, gain-of-function mutations in the mechanosensitive ion c

195 group of autoinflammatory diseases linked to gain-of-function mutations in the NOD-like receptor fami

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

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

198 of Noonan syndrome (NS) are associated with gain-of-function mutations in the phosphatase SHP2 (enco

199 Loss-of-function and gain-of-function mutations in the PI3Kdelta isoform have

200 d immunodeficiency caused by either dominant gain-of-function mutations in the PIK3CD gene encoding t

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

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

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

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

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

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

207 Gain-of-function mutations in the tyrosine kinase recept

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

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

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

211 mune pathways in their skin, and humans with gain-of-function mutations in their type 2 response deve

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

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

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

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

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

217 Gain-of-function mutations in transmembrane protein 173

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

219 Here we studied the effects of hotspot gain-of-function mutations in Trp53 (the gene that encod

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

221 Gain-of-function mutations in with no lysine (K) 1 (WNK1

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

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

224 mutation in which expression of this severe gain-of-function mutation is dependent upon Cre recombin

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

226 l dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB.

227 These findings indicate that a STAT1 gain-of-function mutation limits production of antiviral

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

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

230 The gain-of-function mutation N629D at the outer mouth of th

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

232 Known, gain of function mutations of TREK-1 (G137I, Y284A) reco

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

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

235 nsight into the pathogenic mechanism of this gain-of-function mutation of SCN8A and identify excitato

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

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

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

239 Gain-of-function mutations of classic transient receptor

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

241 Somatic gain-of-function mutations of GNAQ and GNA11, which enco

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

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

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

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

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

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

248 eptic encephalopathy (DEE) caused by de novo gain-of-function mutations of sodium channel Na(v) 1.6 t

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

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

251 , thus illustrating the possible role of the gain-of-function mutations of the glycine receptor in de

252 Gain-of-function mutations of the isocitrate dehydrogena

253 Loss- and gain-of-function mutations of the putative active site r

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

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

256 Gain-of-function mutations of voltage-gated sodium chann

257 Gain-of-function mutations of WNK1 and WNK4 in humans le

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

259 70S) and characterize these along with known gain-of-function mutations (Q226E, V280M, and R414H) to

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

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

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

263 ages from PD patients where pathogenic LRRK2 gain-of-function mutations result in the accumulation of

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

265 mmune dysregulation resulting from a mosaic, gain-of-function mutation (S703I) in JAK1, encoding a ki

266 Gain-of-function mutations shortened the action potentia

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

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

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

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

271 CLN4 alleles resemble dominant hypermorphic gain of function mutations that drive excessive oligomer

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

273 ified in 25% of human melanomas represents a gain-of-function mutation that interacts better with NRA

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

275 In contrast, a PM H(+)-ATPase gain-of-function mutation that results in a constitutive

276 hat these alleles represent a novel class of gain-of-function mutations that activate signaling indep

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

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

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

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

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

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

283 eliminate the function of genes rather than gain-of-function mutations that increase or qualitativel

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

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

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

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

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

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

293 We show that it is a gain-of-function mutation, with a hyperpolarizing shift

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

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

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

297 of-function mutations are dominant over most gain-of-function mutations within the same as well as of

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

299 JAK-STAT3 gain-of-function mutations within this pathway and other

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