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H234R
naturally occuring mutation in exon 5 of gene ChGn1, the mutant shows neuropathy, Bells palsy and/or hereditary motor and sensory neuropathy, the mutant enzyme is inactive
M509R
naturally occuring mutation in exon 10 of gene ChGn1, the mutant shows neuropathy, Bells palsy and/or hereditary motor and sensory neuropathy, the mutant enzyme is inactive
P384R
site-directed mutagenesis, almost inactive mutant
S126L
naturally occuring inactive ChGN1 mutant
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overexpression and siRNA-mediated knockdown of gene CSGalNAcT2 in DF1 cells
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overexpression and siRNA-mediated knockdown of gene CSGalNAcT2 in DF1 cells
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bi-allelic loss-of-function mutations in CSGALNACT1 produce a skeletal dysplasia reminiscent of the skeletal dysplasia of Csgalnact1-/- mice, and adds to the genetic heterogeneity of Desbuquois dysplasia (DD)
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bi-allelic loss-of-function mutations in CSGALNACT1 produce a skeletal dysplasia reminiscent of the skeletal dysplasia of Csgalnact1-/- mice, and adds to the genetic heterogeneity of Desbuquois dysplasia (DD)
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saturating concentrations of rVAR2 inhibit downstream integrin signaling, which is mimicked by knockdown of the core chondroitin sulfate (CS) synthesis enzymes beta-1,3-glucuronyltransferase 1 (B3GAT1) and chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1) via siRNA. The oncofetal chondroitin sulfate glycosaminoglycans (ofCS) modification is highly expressed in both human and murine metastatic lesions in situ and pre-incubation or early intravenous treatment of tumor cells with rVAR2-inhibited seeding and spreading of tumor cells in mice
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saturating concentrations of rVAR2 inhibit downstream integrin signaling, which is mimicked by knockdown of the core chondroitin sulfate (CS) synthesis enzymes beta-1,3-glucuronyltransferase 1 (B3GAT1) and chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1) via siRNA. The oncofetal chondroitin sulfate glycosaminoglycans (ofCS) modification is highly expressed in both human and murine metastatic lesions in situ and pre-incubation or early intravenous treatment of tumor cells with rVAR2-inhibited seeding and spreading of tumor cells in mice
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in cmd mice (known as natural aggrecan-null mice) the heterozygote and homozygote cartilage exhibit about 50% and about 9% aggrecan gene transcription respectively. In the cmd heterozygote cartilage, chondroitin sulfate N-acetylgalactosaminyltransferase-1 expression is dimnished to about 30% that of the wild type. In the cmd homozygote cartilage, chondroitin sulfate N-acetylgalactosaminyltransferase-1 expression furhter decreases to a low level.
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construction of CSGalNAcT1-null mice by homologous recombination using an embryonic stem cell line, RENKA, developed from the wild-type C57BL/6N strain
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construction of L-shRNA ChGn-1-1 and L-shRNA ChGn-1-2 transfected L cells, and analysis of chondroitin sulfate chain lengths. The silencing of the genes results in a 60-80% reduction in steady-state ChGn-1 mRNA and an 18-22% decrease in CS when compared with control L cells. Overexpression of ChGn-1 slightly increases CS levels in L cells
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downregulation of CSS1 by siRNA
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generation of Csgalnact1-/- mice by using a targeting vector for Csgalnact1 gene disruption
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construction of enzyme knockout mutant ChGn-1-/-
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construction of enzyme knockout mutant ChGn-1-/-
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construction of enzyme knockout mutant ChGn-2-/-
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construction of enzyme knockout mutant ChGn-2-/-
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construction of RNAi-mediated gene Csgalnact1 knockout mice, mutant T1KO. T1KO mice are viable, but they have abnormal bone development and 10% shorter bodies compared to wild-type mice. Heparan sulfate synthesis increases in injured spinal cords of T1KO mice
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generation of mice that are deficient in the CS synthesizing enzyme, CSGalNAcT1 (T1KO)
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generation of single knockout T1 KO mutant and of double knockout mutant Col2-DKO, a chondrocyte-specific t1::t2 KO mutant, quantitative RT-PCR analysis of knee cartilage shows no or slight t1 and t2 gene expression in Col2-DKO mice compared with wild-type mice. t1::t2 double KO mice show severe dwarfism and postnatal lethality, pgenotype, overview
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generation of single knockout T1 KO mutant and of double knockout mutant Col2-DKO, a chondrocyte-specific t1::t2 KO mutant, quantitative RT-PCR analysis of knee cartilage shows no or slight t1 and t2 gene expression in Col2-DKO mice compared with wild-type mice. t1::t2 double KO mice show severe dwarfism and postnatal lethality, pgenotype, overview
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generation of single knockout T2 KO mutant and of double knockout mutant Col2-DKO, a chondrocyte-specific t1::t2 KO mutant, quantitative RT-PCR analysis of knee cartilage shows no or slight t1 and t2 gene expression in Col2-DKO mice compared with wild-type mice. t1::t2 double KO mice show severe dwarfism and postnatal lethality, phenotype, overview
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generation of single knockout T2 KO mutant and of double knockout mutant Col2-DKO, a chondrocyte-specific t1::t2 KO mutant, quantitative RT-PCR analysis of knee cartilage shows no or slight t1 and t2 gene expression in Col2-DKO mice compared with wild-type mice. t1::t2 double KO mice show severe dwarfism and postnatal lethality, phenotype, overview
additional information
saturating concentrations of rVAR2 inhibit downstream integrin signaling, which is mimicked by knockdown of the core CS synthesis enzymes beta-1,3-glucuronyltransferase 1 (B3GAT1) and chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1) via siRNA. The oncofetal chondroitin sulfate glycosaminoglycan chains (ofCS) modification is highly expressed in both human and murine metastatic lesions in situ and pre-incubation or early intravenous treatment of tumor cells with rVAR2-inhibited seeding and spreading of tumor cells in mice
additional information
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saturating concentrations of rVAR2 inhibit downstream integrin signaling, which is mimicked by knockdown of the core CS synthesis enzymes beta-1,3-glucuronyltransferase 1 (B3GAT1) and chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1) via siRNA. The oncofetal chondroitin sulfate glycosaminoglycan chains (ofCS) modification is highly expressed in both human and murine metastatic lesions in situ and pre-incubation or early intravenous treatment of tumor cells with rVAR2-inhibited seeding and spreading of tumor cells in mice
additional information
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generation of Csgalnact1-/- mice by using a targeting vector for Csgalnact1 gene disruption
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additional information
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saturating concentrations of rVAR2 inhibit downstream integrin signaling, which is mimicked by knockdown of the core CS synthesis enzymes beta-1,3-glucuronyltransferase 1 (B3GAT1) and chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1) via siRNA. The oncofetal chondroitin sulfate glycosaminoglycan chains (ofCS) modification is highly expressed in both human and murine metastatic lesions in situ and pre-incubation or early intravenous treatment of tumor cells with rVAR2-inhibited seeding and spreading of tumor cells in mice
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construction of enzyme knockout mutant ChGn-1-/-
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generation of single knockout T1 KO mutant and of double knockout mutant Col2-DKO, a chondrocyte-specific t1::t2 KO mutant, quantitative RT-PCR analysis of knee cartilage shows no or slight t1 and t2 gene expression in Col2-DKO mice compared with wild-type mice. t1::t2 double KO mice show severe dwarfism and postnatal lethality, pgenotype, overview
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construction of enzyme knockout mutant ChGn-2-/-
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generation of single knockout T2 KO mutant and of double knockout mutant Col2-DKO, a chondrocyte-specific t1::t2 KO mutant, quantitative RT-PCR analysis of knee cartilage shows no or slight t1 and t2 gene expression in Col2-DKO mice compared with wild-type mice. t1::t2 double KO mice show severe dwarfism and postnatal lethality, phenotype, overview
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additional information
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construction of CSGalNAcT1-null mice by homologous recombination using an embryonic stem cell line, RENKA, developed from the wild-type C57BL/6N strain
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