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  • 8 Hits
  • 検索条件 : 絞込み (MeSH = Osteochondrodysplasias / genetics*)
生物種 リソース名 タイトル
ヒト・動物細胞 10T1/2(RCB0247) Cloning and characterization of the 5'-flanking region of the mouse diastrophic dysplasia sulfate transporter gene.
実験動物マウス GSC0164 ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type.
ヒト・動物細胞 H-EMC-SS(RCB0508) , ATDC5(RCB0565) Loss of Mob1a/b in mice results in chondrodysplasia due to YAP1/TAZ-TEAD-dependent repression of SOX9.
ヒト・動物細胞 293T(RCB2202) Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.
ヒト・動物細胞 Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
ヒト・動物細胞 HeLa Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
ヒト・動物細胞 ATDC5(RCB0565) Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
ヒト・動物細胞 THP-1(RCB1189) Gene expression profile of THP-1 monocytes following knockdown of DAP12, a causative gene for Nasu-Hakola disease.