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論文 - 一覧

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  • 検索条件 : 絞込み (MeSH = Heterozygote)
生物種 リソース名 タイトル
ヒト・動物細胞 ASF-4-3L(RCB3580) A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.
ショウジョウバエ DGRC#118826 Introgression of Drosophila simulans nuclear pore protein 160 in Drosophila melanogaster alone does not cause inviability but does cause female sterility.
ヒト・動物細胞 COS-1(RCB0143) A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.
ショウジョウバエ DGRC#104670 , DGRC#112419 , DGRC#114328 , DGRC#113446 The ZO-1 protein Polychaetoid as an upstream regulator of the Hippo pathway in Drosophila.
ヒト・動物細胞 1231A3(HPS0381) Generation of NPHP1 knockout human pluripotent stem cells by a practical biallelic gene deletion strategy using CRISPR/Cas9 and ssODN.
ショウジョウバエ 8376R-1 Consolidation and maintenance of long-term memory involve dual functions of the developmental regulator Apterous in clock neurons and mushroom bodies in the Drosophila brain.
ヒト・動物細胞 293(RCB1637) Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
ゼブラフィッシュ Tg(TRPC24.5k :gap-Venus)rw037Tg , Tg(OMP2k :gap-CFP)rw034 Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
ゼブラフィッシュ Tg（isl1:GFP) rw0 Investigation of Islet2a function in zebrafish embryos: Mutants and morphants differ in morphologic phenotypes and gene expression.
ヒト・動物細胞 COS-1(RCB0143) Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage.
ヒト・動物細胞 MKN1(RCB1003) , MKN7(RCB0999) , MKN45(RCB1001) , GCIY(RCB0555) Analysis of the fragile histidine triad gene in primary gastric carcinomas and gastric carcinoma cell lines.
遺伝子材料 Genome Network Project Human cDNA IRAK049F12 (HGX019732) TBX5 R264K acts as a modifier to develop dilated cardiomyopathy in mice independently of T-box pathway.
ニワトリ・ウズラ JB , GSP/Cp Combined deletions of IHH and NHEJ1 cause chondrodystrophy and embryonic lethality in the Creeper chicken.
ショウジョウバエ DGRC#111506 A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8.
遺伝子材料 T7-NLS hCas9-pA (RDB13130) Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes.
ゼブラフィッシュ Tol-056 De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
研究用ヒト臍帯血幹細胞 Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency.
遺伝子材料 pAID-GTOP (RDB03000) , pmAID BSSK (RDB02864). Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme.
遺伝子材料 pX330-U6-Chimeric_BB-CBh-hSpCas9 sgRNA ATM exon11 (RDB15816) Evaluation of ATM heterozygous mutations underlying individual differences in radiosensitivity using genome editing in human cultured cells.
イネ O.glaberrima introgression lines Lineage-specific gene acquisition or loss is involved in interspecific hybrid sterility in rice.