Literature DB >> 8325655

Mucopolysaccharidosis IV A: assignment of the human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene to chromosome 16q24.

M Masuno1, S Tomatsu, Y Nakashima, T Hori, S Fukuda, M Masue, K Sukegawa, T Orii.   

Abstract

Plasmid clones of three independent genomic fragments of the gene for human N-acetylgalactosamine-6-sulfate sulfatase (GALNS; EC 3.1.6.4) were utilized in a fluorescence in situ suppression hybridization study to assign the locus to chromosome 16q24. Enzyme assay for GALNS in a patient with del(16)(q22.1) confirmed this finding.

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Year:  1993        PMID： 8325655     DOI： 10.1006/geno.1993.1266

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


  16 in total

1.  Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Authors:  S Tomatsu; S Fukuda; A Yamagishi; A Cooper; J F Wraith; T Hori; Z Kato; N Yamada; K Isogai; K Sukegawa; N Kondo; Y Suzuki; N Shimozawa; T Orii
Journal:  Am J Hum Genet       Date:  1996-05       Impact factor: 11.025

2.  Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre's experience.

Authors:  A Broomfield; K Zuberi; J Mercer; G Moss; N Finnegan; P Hensman; R Walker; S Bukhari; N B Wright; F Stewart; S A Jones; R Ramirez
Journal:  Childs Nerv Syst       Date:  2018-06-26       Impact factor: 1.475

3.  Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages.

Authors:  S Tomatsu; S Fukuda; A Uchiyama; T Hori; Y Nakashima; K Sukegawa; N Kondo; Y Suzuki; N Shimozawa; T Orii
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

4.  Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population.

Authors:  S Tomatsu; S Fukuda; A Uchiyama; T Hori; Y Nakashima; N Kondo; Y Suzuki; N Shimozawa; K Sukegawa; T Orii
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

6.  Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase.

Authors:  A M Montaño; K Sukegawa; Z Kato; R Carrozzo; P Di Natale; E Christensen; K O Orii; T Orii; N Kondo; S Tomatsu
Journal:  J Inherit Metab Dis       Date:  2007-09-17       Impact factor: 4.982

7.  Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; A Uchiyama; T Hori; Y Nakashima; N Yamada; K Sukegawa; N Kondo
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

8.  Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Authors:  Adriana Maria Montaño; Ilkka Kaitila; Kazuko Sukegawa; Shunji Tomatsu; Zenichiro Kato; Haruki Nakamura; Seiji Fukuda; Tadao Orii; Naomi Kondo
Journal:  Hum Genet       Date:  2003-04-30       Impact factor: 4.132

Review 9.  Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Authors:  Hira Peracha; Kazuki Sawamoto; Lauren Averill; Heidi Kecskemethy; Mary Theroux; Mihir Thacker; Kyoko Nagao; Christian Pizarro; William Mackenzie; Hironori Kobayashi; Seiji Yamaguchi; Yasuyuki Suzuki; Kenji Orii; Tadao Orii; Toshiyuki Fukao; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2018-05-15       Impact factor: 4.797

10.  Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.

Authors:  S Tomatsu; S Fukuda; A Cooper; J E Wraith; G M Rezvi; A Yamagishi; N Yamada; Z Kato; K Isogai; K Sukegawa
Journal:  Am J Hum Genet       Date:  1995-09       Impact factor: 11.025
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