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2 s mouse mutant ebouriffe (ebo/ebo) harbors a homozygous 2-bp frameshift mutation in Lrrc8a that trunc
3 nian SPG23 pedigree, we identified a complex homozygous 4-kb deletion/20-bp insertion in DSTYK (dual
6 rowth in p53 wild-type NSCLC harboring Arg72 homozygous alleles (p53-72R) through disrupting interact
7 th the sickle cell trait (10/218 [4.6%]) and homozygous alpha+thalassemia (8/216 [3.7%]) were signifi
9 thresholds were only slightly diminished for homozygous and for multiple HLA targets, considering the
10 g (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may repre
14 al respiration in patient fibroblasts with a homozygous ANKZF1 R585Q mutation, and an inability of AN
15 small number of older individuals that were homozygous at an immunologically relevant genetic locus.
18 of fibroblasts from one of the patients with homozygous C-terminal truncation of GLI1 demonstrated th
19 exome sequencing analysis identified a novel homozygous c.100 G > A change in IFT43 segregating with
20 ce-site mutations were identified, including homozygous c.321+1G>T in a subject of Italian ancestry a
21 21+1G>T in a subject of Italian ancestry and homozygous c.322-10G>A in affected sibling pairs from tw
22 ole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function
33 Whole-genome sequencing (WGS) identified a homozygous deep intronic mutation, c.254-649T > G, predi
34 emi-deficient (Erg (cEC-Het) ) and inducible homozygous deficient mice (Erg (iEC-KO) ), in a SMAD3-de
35 s/ins)) as the primary disease locus while a homozygous deletion in MAP9 (MAP9 (del/del)) was later i
39 naling and ADPKD cell proliferation in vitro Homozygous deletion of ILK in renal collecting ducts (CD
42 nctional connectivity.SIGNIFICANCE STATEMENT Homozygous deletion of the Pten gene in neuronal subpopu
43 PR/Cas9, we created a transgenic line with a homozygous deletion of TpnC41C and compared its phenotyp
44 showing signatures of positive selection for homozygous deletions and identify candidate tumour suppr
48 n cancer types and systematically screen for homozygous deletions, aiming to identify rare tumour sup
50 was seen with correctors and potentiators in homozygous DeltaF508 cells, increased chloride conductan
51 two copies of the transgene [RIPCre;KD-mTOR (Homozygous)] develop glucose intolerance due to a defect
52 the human disease genes into a pool of 4653 homozygous diploid yeast deletion mutants with unique ba
59 cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene wi
61 ionally, SNP alleles in NOTCH1 and RARB were homozygous exclusively in the bilateral cases, suggestin
62 itor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an
64 nts being treated with darunavir, or who had homozygous familial hypercholesterolaemia or any conditi
65 ncluded patients aged 12 years or older with homozygous familial hypercholesterolaemia who were on st
66 n to reduce LDL cholesterol in patients with homozygous familial hypercholesterolaemia, with or witho
67 ve used hepatocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to
68 osuvastatin in Children and Adolescents With Homozygous Familial Hypercholesterolemia [HYDRA]; NCT022
69 can be used either as drugs (e.g., to treat homozygous familial hypercholesterolemia and spinal musc
70 ry care institution of a 3-year-old boy with homozygous familial hypercholesterolemia and unstable co
71 arization may develop in children because of homozygous familial hypercholesterolemia or other underl
75 additional affected cats confirmed that cats homozygous for a 2 base pair (bp) deletion within IQ cal
76 r results were seen in mouse caudate nucleus homozygous for APOE epsilon4 via targeted replacement.
80 ences, Cvi-0 x Col-0 hybrid progeny that are homozygous for both Cvi-0 HISN6A and Col-0 HISN6B do not
81 f the patients were heterozygous and 4% were homozygous for CFHR3,1Delta We did not detect an associa
83 based on perinatal lethal thrombosis in mice homozygous for F5(L) (F5(L/L) ) and haploinsufficient fo
85 12 years and older with cystic fibrosis and homozygous for F508del-CFTR, but it has not been assesse
89 aged 12 years or older with cystic fibrosis homozygous for F508del-cystic fibrosis transmembrane con
90 carriers, and 2 of 3 African patients being homozygous for HLA-B*53:01, is approximately 0.00002.
93 individuals are two times more likely to be homozygous for rare very deleterious mutations present i
94 age, c.1141G>C heterozygotes and individuals homozygous for rs532464664 had their hip replacement ope
95 either APOB or PCSK9, but nine probands were homozygous for seven different LDLR mutations, with p.(T
97 expression in the brains of APP/PS1-21 mice homozygous for the APOE-epsilon4 or APOE-epsilon3 allele
99 ult European Americans were studied: a group homozygous for the C allele (52 individuals with BD and
100 ort and RA patients from the Nijmegen cohort homozygous for the C allele (p = 0.0141 and p = 0.0314 r
101 We sequenced the genome of an orangutan homozygous for the ENC, and we focused our analysis on t
105 ditory function and balance behavior in mice homozygous for the harmonin mutation Ush1c c.216G > A fo
109 efective protein N-glycosylation, and humans homozygous for the minor allele at the lead SLC39A8 vari
115 tion exhibited no abnormalities, but a child homozygous for the premature termination codon displayed
116 the bulked DNA sample of seven F2:3 families homozygous for the pss1 allele and (2) the pen1-1 mutant
117 an be infected with M. tuberculosis Two MCMs homozygous for the relatively common M1 MHC haplotype we
118 s those that were wildtype, heterozygous, or homozygous for the TSLPrs1898671 single-nucleotide polym
119 dysfunction and PBMC obtained from subjects homozygous for the TT genotype of the rs11237379/NDUFC2
120 tivation was confirmed in livers of patients homozygous for the Z allele, with severe liver disease r
123 re virtually all affected individuals harbor homozygous founder mutations in WDR73 as well as the clo
125 codon in PI3-kinase p110delta (PIK3CD) and a homozygous frame shift mutation in SKAP (KNSTRN), both a
126 cing analysis in the first family detected a homozygous frameshift change [c.606delinsTA; p.(Lys202As
130 (two families); two siblings shared the same homozygous frameshift mutation, whereas one individual w
132 osol in the heart of knockin mice carrying a homozygous G115S substitution in Sco1, which in humans c
133 llocated 48 caged populations initiated with homozygous GA and WT adults to four dietary treatments c
135 were lower in the group with heterozygous or homozygous gene deletions than in those with no deletion
136 independent shRNA essentiality profiles and homozygous gene deletions, and recapitulate mutant-speci
139 Three TTR mutations, Glu89Lys, Gly47Arg, and homozygous Gly6Ser, not previously described, were assoc
143 from the 1000 Genomes Project we found that homozygous HAQ individuals account for approximately 16.
148 e encoding thrombopoietin (THPO): THPO R99W, homozygous in affected children in 2 families, and THPO
149 cted children in 2 families, and THPO R157X, homozygous in the affected child in the third family.
150 ness estimation unusable, we forced all loci homozygous, in a process we refer to as "forced homozygo
152 ere we identified 153 heterozygous and three homozygous individuals among 3,130 genotyped subjects.
154 with the early onset of AD-type dementia in homozygous individuals, whereas it has a protective effe
156 The banking of human leukocyte antigen (HLA)-homozygous-induced pluripotent stem cells (iPSCs) is con
157 phy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (RPGRIP1 (ins/ins)) as t
158 te clonal HEK293 (Hrd1.KI) cells harboring a homozygous insertion of a small tandem affinity tag knoc
162 formation, whereas intestine-specific Sirt1 homozygous knockout mice have reduced development of col
164 t of Myo10 is semi-lethal, with over half of homozygous KO embryos exhibiting exencephaly, a severe d
170 HD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, reca
174 phenotype of our patients segregated with a homozygous loss-of-function sequence variant, causing th
175 g intravenous injection in the tail veins of homozygous M83 transgenic (M83(+/+)) mice, robust alphaS
176 ygous mpk6 embryos have defects only in mpk6 homozygous maternal plants, but not in wild-type or hete
177 roexcitatory changes were more pronounced in homozygous mice than in heterozygotes, consistent with t
178 mEC layer II neurons of heterozygous and homozygous mice were hyperexcitable and generated long-l
183 wo affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G
187 We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhib
189 ies, we identified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R2
190 e extended consanguineous families, we found homozygous missense mutations in the PNPLA1 gene, six of
191 We enrolled classic BS patients carrying homozygous missense mutations with well-described functi
192 g whole-exome sequencing, we identified rare homozygous missense variants (c.526C>T [p.Arg176Trp] and
196 t embryonic day (E) 14.5 was not affected by homozygous Mof deletion despite dramatic loss of global
197 MPK1 were severely dwarfed and sterile, and homozygous mpk1 seeds from heterozygous parents were def
202 our knowledge, the largest resource of hemi/homozygous mutant mES cells to date and is available to
205 ene dosage-dependent growth restriction, and homozygous mutants exhibit upper GU defects at a microdi
208 We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoiet
210 sh sisters with non-syndromic POI revealed a homozygous mutation in FANCM, leading to a truncated pro
213 In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) wh
214 Taken together, our findings highlight VAMP1 homozygous mutations as a cause of presynaptic CMS.
215 Spinal muscular atrophy (SMA) is caused by homozygous mutations in human SMN1 Expression of a dupli
219 ed by TDP-43 accumulation, and patients with homozygous mutations in the PGRN gene present with neuro
221 report that zebrafish embryos with compound homozygous mutations in two Notch ligand genes, jagged1b
222 d result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN exp
223 next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calc
224 In this work, we have identified 4 different homozygous mutations, c.665G>A (p.R222Q), c.1633_1635del
225 and mice heterozygous (MYH9(+/E1841K) ) and homozygous (MYH9(E1841K/E1841K) ) for the mutation in ea
227 ed two homozygous frameshift mutations and a homozygous nonsense mutation in the mitogen-activated pr
229 upled to whole exome sequencing identified a homozygous nucleotide substitution (c.565G>T) introducin
230 ssential for eukaryotic DNA replication, and homozygous null mutations of GINS component-encoding gen
231 ort and detected 773 HMZ deletion calls (567 homozygous or 206 hemizygous) with an estimated sensitiv
234 midase activity in fibroblasts from patients homozygous or compound heterozygous for a combination of
235 e an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutatio
236 histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and r
237 inheritance, we identify 27 genes that have homozygous or compound heterozygous loss-of-function var
238 is pigmentosa (RP), are attributed to either homozygous or compound heterozygous mutations in RPE65.
239 42 patients (16.7%) carried rare biallelic (homozygous or compound heterozygous) nonsynonymous or sp
242 ere engrafted with bone marrow obtained from homozygous or heterozygous Tet2 knockout mice had larger
250 PKD cyst-derived cells with heterozygous and homozygous PKD1 mutation exhibited morphological and fun
256 d myofibrils isolated from young hetero- and homozygous R349P desmin knock-in mice, which carry the o
257 mpared with wild-type mice, heterozygous and homozygous R607H knockin mice displayed incomplete dRTA
259 nhanced UBAC2 expression associated with the homozygous risk allele (TT) of rs9517723 could induce ov
262 screened a pool of more than 3700 confirmed homozygous SALK T-DNA insertion lines for visible defect
271 whole-genome sequencing identified the same homozygous SRD5A3 c.57G>A, p.(Trp19Ter) variant as the u
272 interictal beta/gamma power is augmented in homozygous stargazer (stg/stg) but not homozygous totter
273 l EEG displays augmented beta/gamma power in homozygous stargazer (stg/stg) mice bearing a presynapti
276 both loci identified by linkage analysis: a homozygous stop codon in PI3-kinase p110delta (PIK3CD) a
278 ion of PSCs derived from patients carrying a homozygous surfactant mutation (SFTPB(121ins2)) restores
279 cticide effectiveness (their ability to kill homozygous susceptible mosquitoes) is high and exposure
280 PSSV can thus differentiate heterozygous and homozygous SVs in each sample, enabling the identificati
284 a presynaptic AMPA receptor defect, but not homozygous tottering (tg/tg) mice with a P/Q type calciu
287 MYCN-driven neuroblastoma growth in TH-MYCN homozygous transgenic mice and MYCN gene-amplified neuro
290 ily with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose
291 Using whole exome sequencing, we identified homozygous truncating variants in TRAK1 (NM_001042646:c.
293 d HIBCH), and in 1 family, 2 disease-causing homozygous variants in different genes were identified.
294 mapping and whole-exome sequencing, we found homozygous variants in myosin light chain kinase (MYLK)
295 or genome sequencing identified segregating homozygous variants in VAMP1: c.51_64delAGGTGGGGGTCCCC i
296 a complex inheritance of TH, we predict that homozygous variants in WNT7A and SMARCA4 are necessary f
298 pressed solely in B-cells in the presence of homozygous wild-type p53 it leads to significantly incre
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