|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS).
|
12794697 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We sequenced genomic DNA and RT-PCR products in the iduronate sulfatase (IDS) gene in 6 unrelated patients with Hunter syndrome to assess genotype/phenotype relationships and offer carrier testing where required.
|
10220152 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with mucopolysaccharidosis type II (MPS II) lack iduronate-2-sulfatase (IDS), and serial PBL gene therapy may benefit these patients.
|
10220258 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
We constructed three types of MLV-based retroviral vectors expressing iduronate-2-sulfatase (IDS) which is deficient in patients suffering from Hunter's syndrome: MIN-IDS and MIM-IDS, which express IDS along with bacterial neo and human MDR genes, respectively, and MT-IDS lacking any selectable marker.
|
12516048 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sinus pericranii involving the torcular sinus in a patient with Hunter's syndrome and trigonocephaly: case report and review of the literature.
|
15314824 |
2004 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
|
11731225 |
2001 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
IDS is responsible for the lysosomal degradation of heparan sulfate and dermatan sulfate and linked to an X-linked lysosomal storage disease, mucopolysaccharidosis 2 (MPS2), resulting in neurological damage and early death.
|
28401457 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular 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.
|
18331837 |
2008 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Hunter syndrome (Mucopolysaccharidosis type II) is a rare X-linked recessive lysosomal storage disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS).
|
12794697 |
2003 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis type II (Hunter syndrome) is an X linked lysosomal storage disorder resulting from heterogeneous mutations in the iduronate-2-sulphatase (IDS) gene.
|
9950361 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II).
|
7981716 |
1994 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome.
|
18580692 |
2008 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
|
21829674 |
2011 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hunter syndrome (or mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder induced by a deficiency of the iduronate 2-sulfatase (IDS) enzyme, resulting in the accumulation of glycosaminoglycan substrates, heparan sulfate and dermatan sulfate, in the lysosomes.
|
28588666 |
2017 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).
|
8281149 |
1993 |
|
Mucopolysaccharidosis II
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients.
|
14728992 |
2004 |
|
Mucopolysaccharidosis II
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Two new nonsense mutations (Q80X; Q389X) in patients with severe Hunter syndrome (mucopolysaccharidosis type II.)
|
8829647 |
1996 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II.
|
31029429 |
2019 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the enzyme iduronate-2-sulfatase (IDS) were reported as the cause of the X-linked recessive lysosomal disease, mucopolysaccharidosis II (MPS II).
|
16699754 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
|
10447264 |
1999 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type II (MPSII; Hunter syndrome) is a lysosomal storage disorder caused by a deficiency in the enzyme iduronate 2-sulfatase (IDS).
|
16505002 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mucopolysaccharidosis type II (MPSII; Hunter syndrome) is a lysosomal storage disorder caused by a deficiency in the enzyme iduronate 2-sulfatase (IDS).
|
16505002 |
2006 |
|
Mucopolysaccharidosis II
|
1.000 |
Biomarker
|
disease |
BEFREE |
The important management topics are discussed in this review, and the use of enzyme-replacement therapy with recombinant human iduronate-2-sulfatase as a specific treatment for Hunter syndrome is presented.
|
19901005 |
2009 |
|
Mucopolysaccharidosis II
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II).
|
1283150 |
1992 |