Results 31 to 40 of about 2,908,134 (284)

Detailed pedigree analyses and prenatal diagnosis for a family with mucopolysaccharidosis type II

open access: yesBMC Medical Genomics, 2021
Background Mucopolysaccharidosis type II (MPS II) is an X-linked multisystem disorder caused by mutations in the gene encoding iduronate 2-sulfatase (IDS).
Chuan Zhang   +13 more
doaj   +1 more source

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China

open access: yesFrontiers in Genetics, 2023
Background: Mucopolysaccharidosis Type II (MPS II) is a rare, progressive and ultimately fatal X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene.
Zhenjie Zhang   +7 more
doaj   +1 more source

Gene list with Flybase IDs.

open access: yes, 2022
List of genes used in the manuscript, with corresponding abbreviations, and Flybase gene IDs (XLSX)
Vikki M. Weake (9268870)   +5 more
core   +1 more source

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. [PDF]

open access: yesPLoS ONE, 2011
BACKGROUND: Hunter syndrome (mucopolysaccharidosis type II, MPS II) is a rare disease inherited in an X-linked autosomal recessive pattern. It is the prevailing form of the mucopolysaccharidoses in China.
Huiwen Zhang   +8 more
doaj   +1 more source

ID gene activity during Xenopus embryogenesis

open access: yesMechanisms of Development, 1995
The activity of bHLH transcription factors that are involved in cell determination and differentiation is inhibited by Ids, HLH proteins lacking the basic amino acid sequence element. In order to determine the role of Id during development, we have isolated and characterized the Id genes expressed in Xenopus embryos.
Zhang, Hong   +4 more
openaire   +3 more sources

EPUB Download Guidelines for IDS eBooks

open access: yes, 2022
A guide to downloading EPUB eBook files from IDS OpenDocs and accessing them via e-reader applications and software on electronic ...
IDS Publications Team (19285792)
core   +1 more source

CUKW loci IDs for duplicated copA gene cluster.

open access: yes, 2021
CUKW loci IDs for duplicated copA gene cluster.
Pratima Gautam (11495569)   +6 more
core   +1 more source

AMP gene IDs identified from 134 nematode predicted protein datasets.

open access: yes, 2023
AMP gene IDs identified from 134 nematode predicted protein datasets.
Louise E. Atkinson (9235356)   +3 more
core   +1 more source

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

open access: yesHeliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona   +8 more
doaj   +1 more source

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

open access: yesMolecular Genetics and Metabolism Reports, 2023
Mucopolysaccharidosis II (MPS II) is an X-linked, recessive, inborn metabolic disorder caused by defects in iduronate-2-sulfatase (IDS). The age at onset, disease severity, and rate of progression vary significantly among patients.
Yusuke Hattori   +8 more
doaj   +1 more source

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