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Production of therapeutic iduronate‐2‐sulfatase enzyme with a novel single‐stranded RNA virus vector
Genes to Cells, 2021AbstractThe Sendai virus vector has received a lot of attention due to its broad tropism for mammalian cells. As a result of efforts for genetic studies based on a mutant virus, we can now express more than 10 genes of up to 13.5 kilo nucleotides in a single vector with high protein expression efficiency. To prove this benefit, we examined the efficacy
Mari Ohira +7 more
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Expression of the two iduronate-2-sulfatase cDNAs.
Biochemistry and molecular biology international, 1995The iduronate-2-sulfatase (IDS) is a lysosomal enzyme that acts on sulphate groups on C-2 positions of the iduronic acid residues of the mucopolysaccharides heparan sulphate and dermatan sulphate. Recently, we described in mouse two IDS mRNAs: the first or canonic (MTA16), highly homologous to the human counterpart, the second or novel (MTA13 ...
DANIELE, Aurora, DI NATALE P.
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Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient
Clinica Chimica Acta, 2008Molecular investigations of iduronate-2-sulfatase (IDS) mutants for the X-linked lysosomal storage disease mucopolysaccharidosis type II (MPS II, Hunter disease), commonly depends on transient expression studies to verify a single nucleotide change to be pathogenic.
Lam, CW, Lau, KC
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Human Genetics, 1992
Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb.
P L, Crotty, C B, Whitley
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Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb.
P L, Crotty, C B, Whitley
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Mutations in the iduronate-2-sulfatase gene in five Norwegians with Hunter syndrome
Human Genetics, 1996We have identified the mutations in the iduronate-2-sulfatase (IDS) gene of five unrelated Norwegians with Hunter syndrome by reverse transcription-polymerase chain reaction (RT-PCR) analysis of IDS mRNA followed by single strand conformation polymorphism (SSCP) analysis and cDNA sequencing. One patient had a 5-bp deletion, located at the intron 5/exon
T C, Olsen +6 more
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A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II
World Journal of Pediatrics, 2012Mucopolysaccharidosis type II (MPS II; also known as Hunter syndrome) is an X-linked multisystem disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Genetic testing is crucial in clarifying and diagnosing different types of MPS diseases.
Xiao-Yan, Li +5 more
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Human Molecular Genetics, 1993
Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations.
Bunge, Susanna +8 more
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Mutations of the iduronate-2-sulfatase gene were identified in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Together with another 10 cases reported by us earlier it emerges that about 20% of the patients have deletions of the whole gene or other major structural alterations.
Bunge, Susanna +8 more
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Biochemical and Biophysical Research Communications, 2019
Mucopolysaccharidosis type II (MPS II) is one of the most common mucopolysaccharidoses, which is caused by mutation of the gene encoding iduronate 2-sulfatase (IDS). The loss of function of IDS leads to the accumulation of heparan sulfate and dermatan sulfate of glycosaminoglycans throughout the body, resulting in skeletal deformities, mental ...
Yosuke Osaki +7 more
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Mucopolysaccharidosis type II (MPS II) is one of the most common mucopolysaccharidoses, which is caused by mutation of the gene encoding iduronate 2-sulfatase (IDS). The loss of function of IDS leads to the accumulation of heparan sulfate and dermatan sulfate of glycosaminoglycans throughout the body, resulting in skeletal deformities, mental ...
Yosuke Osaki +7 more
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Detection of four novel mutations in the iduronate-2-sulfatase gene
Human Mutation, 1998Hypochondroplasia and achondroplasia are skeletal dysplasias, characterized by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, two point mutations, both responsible
BALZANO N. +4 more
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