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  • 47 Hits
  • 検索条件 : 絞込み (MeSH = Pedigree)
生物種 リソース名 タイトル
ヒト・動物細胞 409B2(HPS0076) Integrator complex subunit 15 controls mRNA splicing and is critical for eye development.
ヒト・動物細胞 409B2(HPS0076) Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
ゼブラフィッシュ HGj4A Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
ゼブラフィッシュ gSAIzGFFM593A Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
ヒト・動物細胞 PC-12(RCB0009) SLITRK6 mutations cause myopia and deafness in humans and mice.
ショウジョウバエ 1063R-2 Predicting novel candidate human obesity genes and their site of action by systematic functional screening in Drosophila.
ヒト・動物細胞 OP9(RCB1124) Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
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(cmlc2:mRFP)ko07 Gap junction protein beta 4 plays an important role in cardiac function in humans, rodents, and zebrafish.
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.
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 HCT116(RCB2979) Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder.
ヒト・動物細胞 P19.CL6(RCB1539) RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.
ヒト・動物細胞 MC3T3-E1(RCB1126) Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.
遺伝子材料 NRCD human cDNA clones (RDB06607) , ARi57A02 (HKR182802) Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
ヒト・動物細胞 Control iPS Functional evaluation of the pathological significance of MEFV variants using induced pluripotent stem cell-derived macrophages.
ヒト・動物細胞 293T(RCB2202) Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.
実験動物マウス , ヒト・動物細胞 RBRC01834 , HeLa(RCB0007) Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
ゼブラフィッシュ Tg(CM-isl1:GFP) Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
ヒト・動物細胞 SRA 01/04(RCB1591) The impact of GJA8 SNPs on susceptibility to age-related cataract.