Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes
about
Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.Aminoglycoside-Induced Premature Stop Codon Read-Through of Mucopolysaccharidosis Type I Patient Q70X and W402X Mutations in Cultured Cells.Comparison of Endovascular and Intraventricular Gene Therapy With Adeno-Associated Virus-α-L-Iduronidase for Hurler DiseaseEnzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.Retrovirally mediated overexpression of versican v3 reverses impaired elastogenesis and heightened proliferation exhibited by fibroblasts from Costello syndrome and Hurler disease patients.A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.Coexistence of macular corneal dystrophy types I and II in a single sibship.Direct gene transfer to the CNS prevents emergence of neurologic disease in a murine model of mucopolysaccharidosis type I.Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.Enzyme replacement in a canine model of Hurler syndrome.Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling.Polar body biopsy in the diagnosis of monogenic diseases: the birth of three healthy childrenNeurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.alpha-L-iduronidase therapy for mucopolysaccharidosis type I.Recombinant alpha-L-iduronidase: characterization of the purified enzyme and correction of mucopolysaccharidosis type I fibroblasts.An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.Increased longevity and metabolic correction following syngeneic BMT in a murine model of mucopolysaccharidosis type I.IDUA) hydrolyses the unsulfated alpha-L-iduronosidic link in DSMechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1.Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
P2860
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P2860
Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes
description
1993 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 1993
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im November 1993 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 1993/11/01)
@sk
vědecký článek publikovaný v roce 1993
@cs
wetenschappelijk artikel (gepubliceerd op 1993/11/01)
@nl
наукова стаття, опублікована в листопаді 1993
@uk
مقالة علمية (نشرت في نوفمبر 1993)
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name
Identification of mutations in ...... se Hurler and Scheie syndromes
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Identification of mutations in ...... se Hurler and Scheie syndromes
@en
Identification of mutations in ...... se Hurler and Scheie syndromes
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type
label
Identification of mutations in ...... se Hurler and Scheie syndromes
@ast
Identification of mutations in ...... se Hurler and Scheie syndromes
@en
Identification of mutations in ...... se Hurler and Scheie syndromes
@nl
prefLabel
Identification of mutations in ...... se Hurler and Scheie syndromes
@ast
Identification of mutations in ...... se Hurler and Scheie syndromes
@en
Identification of mutations in ...... se Hurler and Scheie syndromes
@nl
P2093
P2860
P1476
Identification of mutations in ...... se Hurler and Scheie syndromes
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P2093
C. P. Morris
D. A. Brooks
H. S. Scott
J. J. Hopwood
P. R. Thompson
P. V. Nelson
T. Litjens
P2860
P304
P407
P577
1993-11-01T00:00:00Z