Literature DB >> 8434612

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

E Baker1, X H Guo, A M Orsborn, G R Sutherland, D F Callen, J J Hopwood, C P Morris.   

Abstract

The gene for N-acetylgalactosamine-6-sulfatase, the deficiency of which results in Morquio A syndrome (mucopolysaccharidosis type IVA), was assigned to chromosome 16 at band q24.3 by fluorescence in situ hybridization. Localization of this band was confirmed by PCR analysis of a somatic cell hybrid panel used for fine mapping of chromosome 16.

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Year:  1993        PMID： 8434612      PMCID： PMC1682100     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  9 in total

1.  High-resolution cytogenetic-based physical map of human chromosome 16.

Authors:  D F Callen; N A Doggett; R L Stallings; L Z Chen; S A Whitmore; S A Lane; J K Nancarrow; S Apostolou; A D Thompson; N M Lapsys
Journal:  Genomics       Date:  1992-08       Impact factor: 5.736

2.  Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting.

Authors:  D F Callen; E Baker; H J Eyre; J E Chernos; J A Bell; G R Sutherland
Journal:  Ann Genet       Date:  1990

3.  Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase.

Authors:  S Tomatsu; S Fukuda; M Masue; K Sukegawa; T Fukao; A Yamagishi; T Hori; H Iwata; T Ogawa; Y Nakashima
Journal:  Biochem Biophys Res Commun       Date:  1991-12-16       Impact factor: 3.575

4.  Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase.

Authors:  T Litjens; E G Baker; K R Beckmann; C P Morris; J J Hopwood; D F Callen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

5.  Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.

Authors:  H S Scott; L J Ashton; H J Eyre; E Baker; D A Brooks; D F Callen; G R Sutherland; C P Morris; J J Hopwood
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

6.  GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA).

Authors:  T B Shows; L R Scrafford-Wolff; J A Brown; M H Meisler
Journal:  Somatic Cell Genet       Date:  1979-03

7.  Deletion mapping of the beta-glucuronidase gene.

Authors:  J E Allanson; R M Gemmill; B K Hecht; S Johnsen; D A Wenger
Journal:  Am J Med Genet       Date:  1988-03

8.  Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome.

Authors:  P J Wilson; G K Suthers; D F Callen; E Baker; P V Nelson; A Cooper; J E Wraith; G R Sutherland; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1991-03       Impact factor: 4.132

9.  Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.

Authors:  D A Robertson; D F Callen; E G Baker; C P Morris; J J Hopwood
Journal:  Hum Genet       Date:  1988-06       Impact factor: 4.132
  9 in total
  15 in total

1.  Morquio Syndrome: A Case Report.

Authors:  Kamleshun Ramphul; Stephanie G Mejias; Yogeshwaree Ramphul-Sicharam
Journal:  Cureus       Date:  2018-03-05

2.  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

3.  Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphatase.

Authors:  J Bielicki; M Fuller; X H Guo; C P Morris; J J Hopewood; D S Anson
Journal:  Biochem J       Date:  1995-10-01       Impact factor: 3.857

4.  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

5.  Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.

Authors:  Souhir Khedhiri; Latifa Chkioua; Salima Ferchichi; Abdelhedi Miled; Sandrine Laradi
Journal:  Diagn Pathol       Date:  2011-01-20       Impact factor: 2.644

Review 6.  Pseudoachondroplastic dysplasia: an Iowa review from human to mouse.

Authors:  J W Stevens
Journal:  Iowa Orthop J       Date:  1999

7.  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

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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