Literature DB >> 6885062

A case of 21q-syndrome with half normal SOD-1 activity.

K Yoshimitsu, S Hatano, Y Kobayashi, Y Takeoka, M Hayashidani, K Ueda, K Nomura, K Ohama, T Usui.   

Abstract

A male Japanese infant was found to have a chromosomal aberration of del(21)(qter leads to q22.1-2) and decreased superoxide dismutase (SOD) activity in erythrocytes and polymorphonuclear and mononuclear leukocytes. The cuprozinc enzyme (SOD-1) level was 40-50% of normal, while the cyanide-insensitive manganese enzyme (SOD-2) activity was within the normal range. Determination of SOD activity in blood cells is a valuable method of classification of the syndrome.

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Year:  1983        PMID： 6885062     DOI： 10.1007/bf00327128

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  23 in total

1.  [PARTIAL MONOSOMY FOR A SMALL ACROCENTRIC CHROMOSOME].

Authors:  J LEJEUNE; R BERGER; M O RETHORE; L ARCHAMBAULT; H JEROME; S THIEFFRY; J AICARDI; M BROYER; J LAFOURCADE; J CRUVEILLER; R TURPIN
Journal:  C R Hebd Seances Acad Sci       Date:  1964-11-30

2.  Studies on copper metabolism. XXVII. The isolation and properties of an erythrocyte cuproprotein (erythrocuprein).

Authors:  H MARKOWITZ; G E CARTWRIGHT; M M WINTROBE
Journal:  J Biol Chem       Date:  1959-01       Impact factor: 5.157

3.  A child with presumptive monosomy 21 (45,XY,-21) in a family in which some members are Gq-.

Authors:  J G Davis; E C Jenkins; H P Klinger; R G Weed
Journal:  Cytogenet Cell Genet       Date:  1976

4.  Superoxide dismutases in polymorphonuclear leukocytes.

Authors:  M L Salin; J M McCord
Journal:  J Clin Invest       Date:  1974-10       Impact factor: 14.808

5.  Ring-G chromosome, a new G-deletion syndrome?

Authors:  R G Weleber; F Hecht; E R Giblett
Journal:  Am J Dis Child       Date:  1968-04

6.  The G deletion syndromes.

Authors:  R J Warren; D L Rimoin
Journal:  J Pediatr       Date:  1970-10       Impact factor: 4.406

7.  Dismutase activity in translocation trisomy.

Authors:  J Kedziora; G Bartosz; W Leyko; D Rozynkowa
Journal:  Lancet       Date:  1979-01       Impact factor: 79.321

8.  Confirmation of the assignment of the human SODS gene to chromosome 21q22.

Authors:  T Philip; J Fraisse; P M Sinet; B Lauras; J M Robert; F Freycon
Journal:  Cytogenet Cell Genet       Date:  1978

9.  SOD-A and chromosome 21. Conflicting findings in a familial translocation (9p24;21q214).

Authors:  N J Leschot; R M Slater; H Joenje; M J Becker-Bloemkolk; J J de Nef
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

10.  Erythrocyte superoxide dismutase activity in Fanconi's anaemia.

Authors:  S Okahata; Y Kobayashi; T Usui
Journal:  Clin Sci (Lond)       Date:  1980-02       Impact factor: 6.124
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  3 in total

1.  Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Authors:  Z Chettouh; M F Croquette; B Delobel; S Gilgenkrants; C Leonard; C Maunoury; M Prieur; M O Rethoré; P M Sinet; M Chery
Journal:  Am J Hum Genet       Date:  1995-07       Impact factor: 11.025

2.  Significance of erythrocyte lipid peroxidation and superoxide dismutase activity in a patient with idiopathic pulmonary haemosiderosis.

Authors:  Y Kobayashi; M Arai; K Yoshimitsu; T Yoshimitsu; M Mori; E Kittata; Y Tanaka; T Usui
Journal:  Eur J Pediatr       Date:  1984-11       Impact factor: 3.183

3.  Expression of LFA-1 by a lymphoblastoid cell line from a patient with monosomy 21: effects on intercellular adhesion.

Authors:  G M Taylor; D Braddock; A J Robson; W D Fergusson; D P Duckett; S W D'Souza; P Brenchley
Journal:  Clin Exp Immunol       Date:  1990-09       Impact factor: 4.330
  3 in total

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