ライフサイエンスコーパス: hypomorphic

1 s observed for other mutations considered as hypomorphic.

2 GNT1 enzymatic activity and are likely to be hypomorphic.

3 dicate that the patient-derived variants are hypomorphic.

4 the mutations in each affected individual is hypomorphic.

5 The study provides evidence for a role for hypomorphic ABCC6 variants in the pathogenesis of PXE.

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

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

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

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

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

11 se Rabl3 were embryonic lethal, but a viable hypomorphic allele (xiamen [xm]) causing in-frame deleti

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

13 hat combines a rare null allele and a common hypomorphic allele at the TBX6 locus.

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

15 variant in mouse showed that it behaves as a hypomorphic allele compared to a new loss-of-function (k

16 lele with the mutation in combination with a hypomorphic allele does not result in functionally equal

17 in inbred mouse strains that carry the same hypomorphic allele in Abcc6 yet with highly variable ect

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

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

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

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

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

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

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

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

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

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

28 entation assays revealed a loss-of-function, hypomorphic allele that significantly impaired growth.

29 The viable hypomorphic allele uncovered in these studies reveals an

30 s suggest that the p.G122R variant is a rare hypomorphic allele with a later disease onset, amenable

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

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

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

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

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

36 Because of nonsense-mediated decay, most hypomorphic alleles are not expressed, resulting in homo

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

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

39 Here we show that hypomorphic alleles of Notch, belonging to the N(facet)

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

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

42 observed in the mice with combined null and hypomorphic alleles of Tbx6.

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

44 g to upregulate expression from wild-type or hypomorphic alleles provides a unique approach to treati

45 or a null allele caused embryonic death, but hypomorphic alleles reproduced the block in B cell devel

46 hesized that the OI-associated mutations are hypomorphic alleles since these mutations occur downstre

47 Thus, OI-associated MESD mutations produce hypomorphic alleles whose failure to remain within the E

48 rs and silencers, complete intron retention, hypomorphic alleles, and combinations of these alteratio

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

50 eles rather than the expected null or severe hypomorphic alleles.

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

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

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

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

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

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

57 We exploited putative hypomorphic and EOfAD-like mutations in the zebrafish ps

58 Combinations of hypomorphic and loss-of-function alleles in many genes h

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

60 A series of hypomorphic and null mutations in the FAD2.A5 isoform we

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

62 We identified an allelic series of fertile, hypomorphic Arabidopsis (Arabidopsis thaliana) mutants f

63 We isolate a strong hypomorphic Arabidopsis thaliana mutant of the POL2A cat

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

65 72P, in the PUB domain) is at least severely hypomorphic, as it impairs HOIP expression and destabili

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

67 Similarly, a hypomorphic bio1 allele enabled analysis of transcriptom

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

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

70 Hypomorphic CARD9 deficiency caused by p.Y91H results in

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

72 er current is smaller in mice harbouring the hypomorphic Cdh23 allele Cdh23(ahl) (C57BL/6J; C57BL/6NT

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 The significantly better survival of hypomorphic CRISPR-Cas9 generated pcyt2 zebrafish knocko

80 The hypomorphic Delta3A mutant, in which a stop codon is ins

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

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

83 iver syndrome, this is the first report of a hypomorphic DLL4 allele as a cause of isolated CHD.

84 early diagnosis of patients presenting with hypomorphic DNA repair defects inclined to experience ac

85 ntly, DNMT3A(R882mut) has been shown to have hypomorphic, dominant-negative, and/or gain-of-function

86 A hypomorphic dsp1-1 mutation causes pleiotropic developme

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

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

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

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

91 nalysis suggested that the mutant allele has hypomorphic effects.

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

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

100 man colon carcinoma HCT116 cells, which were hypomorphic for DNA methyltransferase 1, therefore showi

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

102 imary familial brain calcification, and mice hypomorphic for PDGFB (Pdgfbret/ret) present with brain

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

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

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

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

107 STL-1 SNPs with lung disease.Methods: FSTL-1 hypomorphic (FSTL-1 Hypo) mice underwent lung morphometr

108 ithin the catalytic domain, and most display hypomorphic function in an assay of catalytic activity.

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

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

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

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

113 Accordingly, hypomorphic hai1a mutants heal spontaneously, while othe

114 However, mutating hmx2 in hypomorphic hmx3a mutants that usually develop normally,

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

116 Wild-type (WT) and FSTL-1 hypomorphic (Hypo) mice were infected with Klebsiella pn

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

118 his study, we used PND1 pups bearing bearing hypomorphic Keap1 floxed alleles (Keap1(f/f)) with incre

119 The hypomorphic L allele can be spatiotemporally switched to

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

121 of DNA Ligase 4 (LIG4) syndrome, in which a hypomorphic Lig4 mutation, originally identified in pati

122 ificant implications for understanding why a hypomorphic loss of BCCIP functions is more relevant to

123 A hypomorphic lst8 mutation resulted in decreased LST8 abu

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

125 By using a murine model of MFS, fibrillin-1 hypomorphic mgR mice, we found pulmonary emphysematous-a

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

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

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

129 Using ribosomal protein 24 hypomorphic mice (Rpl24(Bst/+) ) as a genetic tool to da

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

131 Hypomorphic mice also exhibited reduced motivation to wo

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

133 We report that Chrna3 hypomorphic mice consume greater quantities of nicotine

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

135 Sp4 hypomorphic mice exhibited impaired attention as measure

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

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

138 Although Sprtn hypomorphic mice recapitulate key progeroid phenotypes o

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

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

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

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

143 We found that Chrna3(tm1.1Hwrt) hypomorphic mice, which express constitutively low level

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

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

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

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

148 metalloprotease-17 (ADAM17), and into ADAM17 hypomorphic mice.

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

150 after ischemia-reperfusion injury in ADAM17 hypomorphic mice; injected soluble amphiregulin also rev

151 by haploinsufficiency, the identification of hypomorphic misprocessing mutations that mediate viable

152 Mice homozygous for a hypomorphic missense mutation within the conserved Tubby

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

154 Here, we describe hypomorphic missense mutations of scospondin, which allo

155 Moreover, our previous studies using a hypomorphic model targeting huntingtin during the neurod

156 h increased autophagic flux, and alphaKlotho-hypomorphic mouse (kl/kl) with impaired urinary Pi excre

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

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

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

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

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

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

163 Here we show that hypomorphic mtFAS mutant mouse skeletal myoblast cell li

164 In a hypomorphic murine model of PA, dual mRNAs normalize amm

165 ion of heterozygotes that combine strong and hypomorphic mutant alleles.

166 Newly generated Gata3 hypomorphic mutant mice exhibited neonatal lethality ass

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

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

169 ila melanogaster In both male and female raw hypomorphic mutant or knock-down larvae, the degeneratio

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

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

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

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

174 f adherens junction markers, similar to Irf6 hypomorphic mutants and Arhgap29 heterozygotes.

175 n adult MB, memory deficits displayed by amn hypomorphic mutants are rescued.

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

177 Overexpression of hypomorphic mutants might improve the functional defect.

178 diovascular defects of Tbx1 heterozygous and hypomorphic mutants.

179 phenotypes that are also observed in pelota hypomorphic mutants.

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

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

182 A homozygous hypomorphic mutation in human OTULIN causes a potentiall

183 Within the latter group, those carrying a hypomorphic mutation in one allele and a missense mutati

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

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

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

187 A hypomorphic mutation in the forkhead-associated domain o

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

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

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

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

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

193 Brca2 hypomorphic mutation leads to HDR defects in mammary epi

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

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

196 ficiency disorder in mice caused by a viable hypomorphic mutation of Snrnp40, an essential gene encod

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

198 The hypomorphic mutation results in diminished IL-2Rbeta sur

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

200 Hypomorphic mutations affecting the ARL13b G-domain inac

201 Hypomorphic mutations are a valuable tool for both genet

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

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

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

205 Gpr161 null and hypomorphic mutations cause neural tube defects (NTDs) i

206 These hypomorphic mutations have an effect on the biosynthetic

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

208 Hypomorphic mutations in DNA-methyltransferase DNMT3B ca

209 Hypomorphic mutations in DONSON substantially reduce DON

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

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

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

213 ound inheritance, we generated both null and hypomorphic mutations in mouse Tbx6 using the CRISPR-Cas

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

215 Patients with hypomorphic mutations in STAT3 and patients with hypermo

216 Hypomorphic mutations in the genes encoding the MRE11/RA

217 Hypomorphic mutations in the non-homologous end-joining

218 Hypomorphic mutations in the nonhomologous end-joining (

219 Hypomorphic mutations in the recombination activating ge

220 Hypomorphic mutations in the same genes can also give ri

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

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

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

224 ese findings support studies indicating that hypomorphic mutations of human DNAAF2 can result in cili

225 The immunodeficiency results from hypomorphic mutations of SLC39A7, which encodes the endo

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

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

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

229 tonsl(-/-) zebrafish model both support the hypomorphic nature of the identified TONSL variants.

230 The hypomorphic nature of the mutations is believed to suppo

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

232 In addition, hypomorphic Ncaph2 mice have significantly reduced brain

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

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

235 Hypomorphic NEMO mutations result in X-linked ectodermal

236 ts involving TBX4 or FGF10 with the putative hypomorphic non-coding SNVs implies a complex compound i

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

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

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

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

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

242 2 haploinsufficiency is lethal, supporting a hypomorphic or gain-of-function mechanism of action for

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

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

245 Most disease-associated alleles had hypomorphic or null phenotype in both tissues, whereas t

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

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

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

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

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

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

252 Autosomal recessive hypomorphic PGM3 mutations underlie a disorder of severe

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

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

255 These maternal effect hypomorphic phenotypes are associated with alterations i

256 amounts of FL BRCA2 exhibited either null or hypomorphic phenotypes.

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

258 rast to previously described transcriptional hypomorphic pink fruit lines.

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

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

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

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

263 Lpin1 exon 3 and 4 deletion, resulting in a hypomorphic protein without PAP activity, but which pres

264 le nucleotide polymorphism, which produces a hypomorphic protein, may have contributed to the previou

265 earrangements are responsible for generating hypomorphic proteins, and may represent a biomarker of P

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

267 f patients with partial DiGeorge syndrome or hypomorphic RAG is abnormal, with disrupted architecture

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

269 e reconstitution in mice with either null or hypomorphic Rag mutations while preserving thymic epithe

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

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

272 , patients with partial DiGeorge syndrome or hypomorphic recombination-activating gene (RAG) mutation

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

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

275 asts we demonstrated that these variants are hypomorphic, result in altered but residual ET protein l

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

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

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

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

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

281 t well understood, with effects ranging from hypomorphic to silent to hyperfunctioning.

282 escue is consistent with the hypothesis that hypomorphic TONSL variants are pathogenic.

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

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

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

286 that the c.1171A>G(ABCC6) variant acted as a hypomorphic variant.

287 X6 null mutations in combination with common hypomorphic variants at the second TBX6 allele.

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

291 Null mutations and hypomorphic variants of the secreted deoxyribonuclease D

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

293 Hypomorphic variants that have been reported in the gene

294 o estimate cancer risk associated with these hypomorphic variants.

295 Furthermore, the finding of a hypomorphic ventilatory phenotype in untreated HIF-2alph

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

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

298 ADPGK hypomorphic zebrafish further displayed dysfunctional gl

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

300 by combining the loss of CTCF binding with a hypomorphic ZRS allele, resulting in severe Shh loss of