ライフサイエンスコーパス: hypomorphic

1 GNT1 enzymatic activity and are likely to be hypomorphic.

2 s observed for other mutations considered as hypomorphic.

3 Homozygosity for a hypomorphic acd allele preserved the emergence and expan

4 mmune responses, we took advantage of ADAM17 hypomorphic (ADAM17(ex/ex)) mice, in which ADAM17 expres

5 s escaped thymic deletion as a result of the hypomorphic Aire function and that these cells also esca

6 etic cause of albinism in a well phenotyped, hypomorphic albinism population by sequencing a broad ge

7 We show that gem3 is a hypomorphic allele (aug6-1) of AUGMIN subunit 6, encodin

8 alyses demonstrated that DeltaE-torsinA is a hypomorphic allele and showed no evidence for any gain-o

9 ele of CD45 does not function as a hyper- or hypomorphic allele but rather alters the substrate speci

10 evelopment in normal mice and in mice with a hypomorphic allele for Lis1 (Lis1/sLis1).

11 A hypomorphic allele highlights the hypersensitivity of ne

12 ppressors of Arabidopsis thaliana ago1-52, a hypomorphic allele of AGO1 (ARGONAUTE1), a key gene in m

13 und that Rpgr(ko/Y) mice with a heterozygous hypomorphic allele of Cep290 (Cep290(rd16/+)) but not of

14 We identified a novel ENU-induced hypomorphic allele of Crim1, Crim1(glcr11), which in the

15 y characterizing embryos mutant for a strong hypomorphic allele of DICER-LIKE1 (dcl1-15).

16 Our results show that plants carrying a hypomorphic allele of ELO3 fail to activate cell divisio

17 in-deficient mutation, we discovered a novel hypomorphic allele of GDSL lipase carrying a splice junc

18 Deletion of Exo1 in mice expressing a hypomorphic allele of Nbs1 leads to severe developmental

19 In mice expressing a hypomorphic allele of Nbs1, Nbs1(B/B), macrophage activa

20 muscular junction development, we identify a hypomorphic allele of shot that displays synaptic termin

21 nd inheritance of a rare null mutation and a hypomorphic allele of TBX6 accounted for up to 11% of co

22 In a screen for ubi4Delta suppressors, a hypomorphic allele of the RPT2 proteasome regulatory sub

23 eviously observed that mice homozygous for a hypomorphic allele of the ZDHHC5 gene are impaired in co

24 hat each HS-affected family has at least one hypomorphic allele that results in extremely mild peroxi

25 s only non-autonomous overgrowth, ph(505), a hypomorphic allele, causes both autonomous and non-auton

26 tic C3H mice possessed a naturally occurring hypomorphic allele, Gusbh.

27 We also find that the S823F transition in a hypomorphic allele, hmp-1(fe4), decreases actin binding

28 A hypomorphic allele, teb1-1, confers reduced binding and

29 allelic series in mice of Crkl, including a hypomorphic allele, to test for gene expression effects

30 nd heterozygous for 1 loss-of-function and 1 hypomorphic allele, with significant residual levels of

31 ssays suggested that the risk haplotype is a hypomorphic allele.

32 Tibetan PHD2 variant is a loss of function (hypomorphic) allele, leading to augmented HIF activation

33 his allelic series of homozygous conditional hypomorphic alleles (Tsc2(c-del3/c-del3)SynICre(+)) and

34 ynICre(+)) and heterozygote null/conditional hypomorphic alleles (Tsc2(k/c-del3)SynICre(+)) achieves

35 er, the R114C, S124F, G141R and G227R IFNGR2 hypomorphic alleles all encode misfolded proteins with a

36 rategies aimed at inducing overexpression of hypomorphic alleles might be beneficial.

37 mbrane proteins, but only when combined with hypomorphic alleles of ESCRT-0.

38 ly interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of h

39 the consequences of loss of function and of hypomorphic alleles of Igf2r on growth functions, we int

40 iabetes and how differences in expression of hypomorphic alleles of PPP2R2A and potentially other reg

41 Hypomorphic alleles of shby caused poor root growth, dec

42 The combination of hypomorphic alleles of SkpA and hiw leads to enhanced sy

43 Hypomorphic alleles of these genes also display simple v

44 ntrons it was unclear whether they represent hypomorphic alleles or abolish gene function.

45 ignal transducer in mice that carry Stat5a/b hypomorphic alleles resulted in abnormally high numbers

46 to mild disseminated mycobacterial disease (hypomorphic alleles) to chronic mucocutaneous candidiasi

47 ns is catalytically null, two mutants encode hypomorphic alleles, and another two mutants are tempera

48 sis of both strong loss-of-function and weak hypomorphic alleles.

49 ear-null mutant and the other six mutants as hypomorphic alleles.

50 ubunit gene is a two-hit mutation, where the hypomorphic alteration in an ESE is amplified by the ins

51 ers, which we showed to be attributable to a hypomorphic amino acid alteration.

52 cape tolerance, our patients' combination of hypomorphic and activating mutations suggested a new dis

53 icate that RING-deficient BRCA1 proteins are hypomorphic and capable of contributing to PARPi and pla

54 The mutation is hypomorphic and causes heme deficiency, which likely sen

55 Hypomorphic and complete-loss-of-function double mutants

56 We generated a unique series of Tbx3 hypomorphic and conditional mouse mutants with varying l

57 FIG4 mutations), one of the FIG4 alleles is hypomorphic and disease is limited to the peripheral ner

58 vo can differentiate between MYMK wild type, hypomorphic and null alleles.

59 tudies employed an RGS7 mutant mouse that is hypomorphic, and hence the exact role of RGS7 in DBCs re

60 Single-null and hypomorphic animals were viable and fertile.

61 E expression in macrophages and monocytes of hypomorphic apoE mice led to increased miR-146a levels,

62 ovel, environmentally dependent phenotype in hypomorphic argonaute1 (ago1) mutants and uncover its me

63 72P, in the PUB domain) is at least severely hypomorphic, as it impairs HOIP expression and destabili

64 Hypomorphic Asns mutant mice have structural brain abnor

65 development of intestinal inflammation upon hypomorphic ATG16L1 function and implicate ileal Crohn's

66 erability to loss of Atoh1 function and that hypomorphic Atoh1 alleles should be considered in human

67 In contrast, hypomorphic ATR reduction potently inhibited the growth

68 nalyses on both Hand2 conditionally null and hypomorphic backgrounds demonstrate that Hand2 is requir

69 alysed genome-wide replication dynamics in a hypomorphic budding yeast mutant, smc6-P4 The overall re

70 nd that Angpt1-knockout mice form a severely hypomorphic canal with elevated intraocular pressure.

71 Hypomorphic CARD9 deficiency caused by p.Y91H results in

72 NSc and to dissect the mechanisms by which a hypomorphic CARD9 mutation causes susceptibility to Cand

73 Importantly, Gpc4 hypomorphic cell grafts, in contrast to wild-type cells,

74 Intrastriatal transplantation of Gpc4 hypomorphic cells into a 6-OHDA rat model for Parkinson'

75 Furthermore, in CDK2 hypomorphic cells there was reduced nuclear AID accumula

76 int signaling and damage sensitivity in NBS1 hypomorphic cells.

77 -f relative to CSN was increased in the Csn8 hypomorphic cells.

78 Here we show that Cic hypomorphic (Cic-L(-/-)) mice have impaired bile acid (B

79 phoproliferation in patients associated with hypomorphic Coronin-1A mutation.

80 e in the cell cycle; GSCs harboring specific hypomorphic CycE mutations are not efficiently maintaine

81 hat WRM-1 cortical release is disrupted in a hypomorphic cyclin-dependent protein kinase 1 (cdk-1) mu

82 ic deletion that resulted in expression of a hypomorphic desmoglein 3 protein with a truncation of an

83 ion of the Hsp104 N-terminal domain yields a hypomorphic disaggregase, Hsp104(N), with an altered pum

84 ortance of understanding specific effects of hypomorphic disease-associated mutations to achieve accu

85 Surprisingly, the effects of a hypomorphic disease-causing Cep290 allele were rescued b

86 A hypomorphic dsp1-1 mutation causes pleiotropic developme

87 produced a frameshift, but the mutation was hypomorphic due to the creation of two new translation i

88 We show that a hypomorphic Dullard allele or Dullard knockdown leads to

89 the 'traditional' knockout allele suggests a hypomorphic effect of the truncated CTNNB1 protein fragm

90 Consistent with a hypomorphic effect, we find that the MM risk allele also

91 ed by p.P209L overexpression, indicating its hypomorphic effect.

92 lomics analysis of brain and liver from Mpc1 hypomorphic embryos identified compensatory changes in a

93 A series of dental abnormalities, including hypomorphic enamel formation, has been reported in patie

94 tem cell homeostasis, which further leads to hypomorphic enamel formation.

95 h development, little is known regarding how hypomorphic enamel is formed in patients with EvC.

96 Because hypomorphic expression of a truncated desmoglein 3 prote

97 using gene trap (GT) mutagenesis, leading to hypomorphic expression of ERdj4 in mice homozygous for t

98 combining two approaches, namely, endogenous hypomorphic expression of the isoform Stx1B and RNAi-med

99 Here we show, using a mouse strain with hypomorphic expression of the origin licensing factor mi

100 kinase gene BubR1 live longer, whereas mice hypomorphic for BubR1 (BubR1(H/H)) live shorter and show

101 FbetaRI, and we show that the C57 variant is hypomorphic for down-regulation of Smad2/3-driven transc

102 r type 14 protein (Pn14), knock-in (KI) mice hypomorphic for mTOR function had a decreased ability to

103 In support of a mechanism, mice hypomorphic for Rpgrip1l exhibited hyperphagic obesity,

104 in viral replication was observed for flies hypomorphic for the Akt gene.

105 c clefts in these 3 patients might represent hypomorphic forms of the respective syndromes.

106 We now demonstrate that hypomorphic Foxc1 mutant mice have granule and Purkinje

107 uses no phenotype, enhances the phenotype of hypomorphic Fras1 mutant zebrafish.

108 ne and retention of at least one copy of the hypomorphic gene paralog SMN2.

109 Mice with a hypomorphic gene-trap construct of Setdb2 exhibited incr

110 In addition, hypomorphic germ-line PIGA mutations that do not cause P

111 Here we show that mouse ES cells carrying a hypomorphic Gpc4 allele, in a single-step neuronal diffe

112 e reverses the meiotic maturation defects of hypomorphic gwl mutants.

113 We report that aif-hypomorphic harlequin (Hq) mice show thymic hypocellular

114 DNMT3A R882 mutations, in addition to being hypomorphic, have dominant-negative effects.

115 ppresses the morphological phenotypes of the hypomorphic hen1-2 allele and the null hen1-1 allele in

116 hly prevalent ATG16L1 risk allele, or murine hypomorphic (HM) activity, causes Paneth cell dysfunctio

117 Using a novel hypomorphic hnf1ba zebrafish mutant that exhibits pancre

118 nt has been accomplished in adult mice using hypomorphic (Hus1(neo)) and null (Hus1(Delta1)) Hus1 all

119 Knockout of Bbs7 combined with a hypomorphic Ift88 allele (orpk as a model for Shh dysfuc

120 ality, suggesting that further generation of hypomorphic Igf2r alleles are likely to be at the border

121 els, we also illustrate a context in which a hypomorphic Jak can hamper signaling in a cytokine-speci

122 use of severe combined immunodeficiency, but hypomorphic JAK3 defects can result in a milder clinical

123 The study of 3 patients with hypomorphic JAK3 mutations suggests that terminal B-cell

124 ne phenotype and function of 3 patients with hypomorphic JAK3 mutations.

125 itional knockout postnatal kidneys, and Pkd1 hypomorphic kidneys.

126 old increase in SCL levels in mice bearing a hypomorphic Kit allele (W41/41) corrects their hematocri

127 The hypomorphic L allele can be spatiotemporally switched to

128 nregulation of otic versican expression in a hypomorphic lau allele can be restored by cAMP agonists.

129 d rescue of Lgr5 KO perinatal lethality by a hypomorphic Lgr4 mutant.

130 On the other hand, Mdm2 hypomorphic (Mdm2(Puro/Delta7-12)) or heterozygous (Mdm2

131 Csn8 hypomorphic MEFs exhibited a shortened G1 duration and a

132 A decreased level of Csn8, either in Csn8 hypomorphic MEFs or following siRNA-mediated knockdown i

133 ith wild-type mice, heterozygous alphaKlotho-hypomorphic mice (alphaKlotho haploinsufficiency) progre

134 Atg16L1 hypomorphic mice (Atg16L1(HM)), which have reduced autop

135 Klotho-hypomorphic mice (kl/kl mice) suffer from severe growth

136 Klotho-hypomorphic mice (kl/kl) exhibit excessive plasma 1,25(O

137 Here, we showed that the livers of Sprtn hypomorphic mice accumulate DPCs containing Topoisomeras

138 Hypomorphic mice also exhibited reduced motivation to wo

139 We further tested the utility of Sp4 hypomorphic mice as a model organism relevant to psychia

140 It has been shown previously that ADAM17 hypomorphic mice exhibit unaltered levels of serum sIL-6

141 Sp4 hypomorphic mice exhibited impaired attention as measure

142 We used heterozygous St14 hypomorphic mice expressing a promoter-linked beta-gal r

143 Interestingly, hypomorphic mice expressing only 3% of beta1 integrins o

144 Aipl1-null mouse mimicking LCA and the Aipl1-hypomorphic mice mimicking a slow progressing RP.

145 Although Sprtn hypomorphic mice recapitulate key progeroid phenotypes o

146 With the use of hypomorphic mice with decreased PU.1 levels specifically

147 of Spartan causes early embryonic lethality, hypomorphic mice with low amounts of Spartan are viable.

148 We generated viable Mpi hypomorphic mice with residual enzymatic activity compar

149 mutant (PV-Cre;ErbB4) mice, as well as NRG-1 hypomorphic mice, exhibit increased hippocampal LTP.

150 Previous work, using knockout and hypomorphic mice, showed that Myh10 encoding myosin heav

151 by genetic down-regulation using matriptase hypomorphic mice, were characterized by quantification o

152 We therefore used ADAM17 hypomorphic mice, which only express approximately 5% of

153 kidney disease, we describe the use of Keap1 hypomorphic mice, which possess Nrf2 hyperactivation.

154 of fetal B-1 development was absent in PU.1 hypomorphic mice, while subsequent fetal and adult waves

155 r senescence, and extends survival of klotho-hypomorphic mice.

156 ng abnormalities not seen in NMII-B null and hypomorphic mice: a failure in midline fusion resulting

157 Recombinant PPA2 enzymes modeling hypomorphic missense mutations had decreased activity th

158 main ERP feature characterization of the Sp4 hypomorphic mouse model for schizophrenia.

159 nce of this reciprocal relationship in a new hypomorphic mouse model inheriting an aberrant Mdm2 alle

160 sion, which led us to subject a collagen VII hypomorphic mouse model of RDEB to chemical carcinogenes

161 Using a PU.1 hypomorphic mouse model, we found that B-1 and B-2 lymph

162 we created and characterized two new prestin-hypomorphic mouse models with reduced levels of wild-typ

163 role for EXO1 in modulating the severity of hypomorphic MRE11 complex mutations.

164 DNA mutation in animals and suggest that the hypomorphic mtDNA mutations like COII(G177S) might speci

165 Hypomorphic mTOR mice also had a high mortality (40%) co

166 All four in-frame IFNGR2 hypomorphic mutant alleles encoding surface-expressed re

167 Moreover, specific hypomorphic mutant alleles of AGO1 display compromised m

168 In the mouse, kidney-specific or hypomorphic mutant alleles of IFT complex B genes cause

169 Newly generated Gata3 hypomorphic mutant mice exhibited neonatal lethality ass

170 Here, we identify the hypomorphic mutant mthfd1-1, carrying a mutation (R175Q)

171 enetics analyses indicate that plants with a hypomorphic mutant of CPSF100 (esp5) show defects in emb

172 notype is abrogated by the introduction of a hypomorphic mutant p53(R172P), which impaired p53-mediat

173 mal kidney size was restored by breeding the hypomorphic mutant with a rescuing transgenic mouse line

174 This deficit was also seen in the hypomorphic mutant with reduced OAMB expression in the m

175 iptional profiling of blood showed that rag2 hypomorphic mutant zebrafish lack T cells, whereas prkdc

176 was performed on the argonaute1-33 (ago1-33) hypomorphic mutant, which exhibits reduced sense transge

177 n allelic series of taf1 lines revealed that hypomorphic mutants are viable but display developmental

178 ce, using morpholinos in zebrafish and using hypomorphic mutants in Drosophila adult development.

179 Overexpression of hypomorphic mutants might improve the functional defect.

180 diovascular defects of Tbx1 heterozygous and hypomorphic mutants.

181 physiologically relevant mouse model with a hypomorphic mutation in Atg16L1, a crucial autophagy gen

182 Our findings indicate that a single hypomorphic mutation in CARD11 can cause potentially cor

183 A homozygous hypomorphic mutation in human OTULIN causes a potentiall

184 2 is located on chromosome 15, and a natural hypomorphic mutation in the BALB/cJ Zhx2 allele dramatic

185 FP reporter was crossed into mice carrying a hypomorphic mutation in the breast cancer susceptibility

186 This was revealed through analysis of a hypomorphic mutation in the core spliceosome component P

187 Reduced translational fidelity, caused by a hypomorphic mutation in the editing domain of alanyl-tRN

188 A hypomorphic mutation in the forkhead-associated domain o

189 Analyses of mice with CIN caused by a hypomorphic mutation in the gene Bub1b further support t

190 This mouse has a hypomorphic mutation in the gene encoding the IFT88 subu

191 Here we show that a hypomorphic mutation in the jumonji-domain-containing pr

192 tion was replicated in a mouse strain with a hypomorphic mutation in the murine ferrochelatase gene.

193 tified a mouse mutant, bloto, that harbors a hypomorphic mutation in the zinc finger protein Zfp335.

194 Brca2 hypomorphic mutation leads to HDR defects in mammary epi

195 Only when exposed to intensive light is this hypomorphic mutation manifested physiologically, as its

196 Depletion or hypomorphic mutation of AIF caused a downregulation of C

197 This hypomorphic mutation of BiP disrupts proper development

198 Here we show that mice carrying a hypomorphic mutation of the histone methyltransferase As

199 We found that a hypomorphic mutation of the mouse Mtrr gene results in i

200 We identified a novel, hypomorphic mutation with intact Th17 responses, but imp

201 Hypomorphic mutations affecting the ARL13b G-domain inac

202 Hypomorphic mutations are a valuable tool for both genet

203 f development and immunity because biallelic hypomorphic mutations are associated with impaired glyco

204 However, current methods to generate hypomorphic mutations are limited to a specific organism

205 cy (SCID) and cellular radiosensitivity, but hypomorphic mutations can cause milder phenotypes (leaky

206 embryonic lethality, and in humans, RNase H2 hypomorphic mutations cause Aicardi-Goutieres syndrome (

207 lar proliferation, while in humans, RNase H2 hypomorphic mutations cause the neuroinflammatory disord

208 These hypomorphic mutations have an effect on the biosynthetic

209 Human immunodeficiencies characterized by hypomorphic mutations in critical developmental and sign

210 Hypomorphic mutations in DNA-methyltransferase DNMT3B ca

211 Hypomorphic mutations in DONSON substantially reduce DON

212 ovide the first demonstration that germline, hypomorphic mutations in FDXR cause a novel mitochondrio

213 tions in discrete splice isoforms can induce hypomorphic mutations in genes otherwise intolerant to d

214 a simple and predictable method to generate hypomorphic mutations in model organisms by targeting tr

215 A decrease in DDC signalling results from hypomorphic mutations in RAD53 and H2A and rescues the h

216 Most patients carry hypomorphic mutations in recombination-activating gene (

217 Patients with hypomorphic mutations in STAT3 and patients with hypermo

218 om CD46-deficient patients and patients with hypomorphic mutations in the gene encoding Jagged1 (Alag

219 Hypomorphic mutations in the genes encoding the MRE11/RA

220 Hypomorphic mutations in the non-homologous end-joining

221 Hypomorphic mutations in the nonhomologous end-joining (

222 Hypomorphic mutations in the same genes can also give ri

223 In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein P

224 Hypomorphic mutations in the X-linked human NEMO gene re

225 resulted in the identification of recessive hypomorphic mutations including deletion, nonsense and s

226 mative for adenosine deaminase-SCID, whereas hypomorphic mutations lead to less severe arrests in dev

227 A new study demonstrates that germline hypomorphic mutations of PAX5 are associated with suscep

228 ndrome (SJS) is a form of PNH that is due to hypomorphic mutations of perlecan, the major proteoglyca

229 and early-onset autoimmunity might be due to hypomorphic mutations of the recombination-activating ge

230 ed exanthematous pustular eruption), whereas hypomorphic mutations were identified in both localized

231 ncy, dominant gain-of-function and recessive hypomorphic mutations, and an unusual X-linked cellular

232 The hypomorphic nature of the mutations is believed to suppo

233 ts with ARL13B mutations is explained by the hypomorphic nature of the mutations.

234 In addition, hypomorphic Ncaph2 mice have significantly reduced brain

235 We tested this by expressing a hypomorphic NCoR1 allele (NCoR1DeltaID), which cannot in

236 Ndd1 is an essential function of Rad53, as a hypomorphic ndd1 allele rescues RAD53 deletion.

237 Hypomorphic NEMO mutations result in X-linked ectodermal

238 tically in that overexpression of dPoleta in hypomorphic nopo-derived embryos suppresses nopo phenoty

239 lls to JAG1(Ndr), compared with JAG1, led to hypomorphic Notch signaling, based on transcriptome anal

240 Rare, hypomorphic NSDHL mutations are also associated with X-l

241 hromatin immunoprecipitation analysis of the hypomorphic nse3 DNA-binding mutant shows a reduced asso

242 can account for missing heritability in some hypomorphic OCA1 albinism phenotypes.

243 Combinations of hypomorphic ocm alleles display a male specific lethalit

244 ual TFAP2A BOFS mutations can generate null, hypomorphic or antimorphic alleles and that these differ

245 2 haploinsufficiency is lethal, supporting a hypomorphic or gain-of-function mechanism of action for

246 hibitors in autosomal dominant PKD caused by hypomorphic or missense PKD1 mutations.

247 t retina and in zebrafish demonstrated their hypomorphic or null nature.

248 We identify hypomorphic or null strains for miRNA expression from rh

249 er the mutations these individuals carry are hypomorphic, or that in these cases alternative transpor

250 er, our data imply that the combination of a hypomorphic p.Ala371Thr variant in trans with a loss-of-

251 vel and complete cilia immotility, except in hypomorphic p.Val16Gly (c.47T>G) homozygote individuals,

252 CARD9 deficiency resulted from a hypomorphic p.Y91H mutation and allelic imbalance establ

253 ulin production, causing overt diabetes in a hypomorphic p53(R172P) background.

254 In this study, we generated a hypomorphic Palb2 allele expressing a mutant PALB2 prote

255 ltaIEC) mice show autophagosome formation in hypomorphic Paneth cells, which is linked to ER stress v

256 Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe

257 mino acid 1899 of CHD7 are likely to cause a hypomorphic phenotype for remodeling.

258 thway remains active, which accounts for the hypomorphic phenotype in Reln(CTRdel) mice.

259 (V/V) mouse model of ADPKD, which displays a hypomorphic phenotype of polycystin-1, demonstrated incr

260 t provides a mechanistic explanation for the hypomorphic phenotype of the CTR-deletion mutant, and fu

261 This mutation leads to a hypomorphic phenotype, as only a subset of snRNA transcr

262 These maternal effect hypomorphic phenotypes are associated with alterations i

263 ype being an absence of functional sperm and hypomorphic phenotypes being premature spermatid activat

264 a range of subtypes with overlapping, often hypomorphic phenotypes.

265 Inactivating and hypomorphic Picalm mutations in mice cause different deg

266 rast to previously described transcriptional hypomorphic pink fruit lines.

267 mpounds individually and in combination in a hypomorphic PKD1 model, Pkd1(R3277C/R3277C) (Pkd1(RC/RC)

268 Hypomorphic Pkd1(nl/nl) mice were examined, showing that

269 Mice carrying a hypomorphic point mutation in the Ptpn6 gene (Ptpn6(spin

270 cumulation in MTAP-deleted cancers creates a hypomorphic PRMT5 state that is selectively sensitized t

271 e model suggested the possibility of finding hypomorphic PTF1A mutations in patients with pancreatic

272 ts, including persistent truncus arteriosus, hypomorphic pulmonary arteries, interrupted aortic arche

273 Omenn syndrome (OS) is caused by hypomorphic Rag mutations and characterized by a profoun

274 ere, we have demonstrated that patients with hypomorphic RAG mutations, especially those with delayed

275 analysis of this patient showed a homozygous hypomorphic RAG1 mutation (c.1073 G>A, p.C358Y) with a r

276 We discovered a hypomorphic reelin (Reln) mutant with abnormal cortical

277 1, are required for robust growth of several hypomorphic replication mutants, including cdc6-1.

278 Reduced Sp4 expression in mice (hypomorphic) reproduces several characteristics of psych

279 ity for Tek led to the formation of severely hypomorphic Schlemm's canal and trabecular meshwork, as

280 t bind NOTCH1, but binds NOTCH2, and elicits hypomorphic signaling.

281 Using a novel hypomorphic Six3 allele, we demonstrate in mice that var

282 lls and EBV(+) cell lines from patients with hypomorphic STAT3 mutations, we demonstrate that single

283 Hypomorphic suppression of ATR minimally affected normal

284 The remaining mutations exhibited hypomorphic suppression of NRF2, binding both NRF2 and C

285 Our findings indicate that hypomorphic TRNT1 mutations can cause a recessive diseas

286 y contrast, sarcomeres were assembled in the hypomorphic ttn mutants but either became susceptible to

287 Functional studies indicate that this hypomorphic variant results in reduced tumour suppressor

288 EOIBD patients carry heterozygous functional hypomorphic variants in components of the NOX2 NADPH oxi

289 causative role for KIAA1109 loss-of-function/hypomorphic variants in this syndrome, knockdowns of the

290 Hypomorphic variants of ER stress response mediators, su

291 We demonstrate that germline hypomorphic variants of SUFU cause deregulation of SHH s

292 Null mutations and hypomorphic variants of the secreted deoxyribonuclease D

293 Alzheimer's disease (AD) is associated with hypomorphic variants of TREM2, a surface receptor requir

294 Hypomorphic variants that have been reported in the gene

295 ed that 4 variants were functionally null or hypomorphic, while 1 was dominant negative.

296 ses, we show that the p.Ala371Thr variant is hypomorphic with attenuated ability to transfer the acti

297 ow that tumor-derived mutations in KEAP1 are hypomorphic with respect to NRF2 inhibition and that DPP

298 These consequences of hypomorphic Xbp1 function are associated with an increas

299 We report here that hypomorphic Xbp1 function instructs a multilayered regen

300 f some of these introns is disrupted even in hypomorphic Zm-mterf4 mutants.