Literature DB >> 549865

Biochemical and structural abnormalities of the connective tissue in Larsen's syndrome.

G Cetta, L Lenzi, A Ruggeri, R Tenni, M Boni.   

Abstract

Skin, iliac crest cartilage and tendon of a patient affected with Larsen's syndrome were subjected to biochemical and ultrastructural investigation. A substantial increase in the ratio of glucosamine to galactosamine was found both in skin and cartilage. Ultrastructural abnormalities of collagen fibres and proteoglycan filaments were also found in Larsen's tissues. The significance of these findings are discussed.

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Year:  1979        PMID： 549865     DOI： 10.1007/bf00266325

Source DB:  PubMed          Journal:  Int Orthop        ISSN： 0341-2695            Impact factor:   3.075


  17 in total

1.  Aliphatic ammonium salts in the assay of acidic polysaccharides from tissues.

Authors:  J E SCOTT
Journal:  Methods Biochem Anal       Date:  1960

2.  Notes on a modification of the Neuman and Logan method for the determination of the hydroxyproline.

Authors:  A A LEACH
Journal:  Biochem J       Date:  1960-01       Impact factor: 3.857

3.  Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions.

Authors:  J E Scott; J Dorling
Journal:  Histochemie       Date:  1965-10-01

4.  Radiographic findings in Larsen's syndrome.

Authors:  K Kozlowski; F Robertson; R Middleton
Journal:  Australas Radiol       Date:  1974-09

5.  [Separation of urinary acid glycosaminoglycans in healthy subjects of various ages].

Authors:  W Teller; C Krüger
Journal:  Klin Wochenschr       Date:  1970-06-01

6.  [Larsen's syndrome: congenital dislocation of the knees and other joints, distinctive facies, and, frequently, cleft palate].

Authors:  F N Silverman
Journal:  Ann Radiol (Paris)       Date:  1972 Mar-Apr

7.  Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.

Authors:  R J Latta; C B Graham; J Aase; S M Scham; D W Smith
Journal:  J Pediatr       Date:  1971-02       Impact factor: 4.406

8.  Multiple congenital dislocations associated with other skeletal anomalies (Larsen's syndrome) in three siblings.

Authors:  H H Steel; E J Kohl
Journal:  J Bone Joint Surg Am       Date:  1972-01       Impact factor: 5.284

9.  Comparative study of carbohydrate-protein complexes. II. Determination of hydroxylysine and its glycosides in human skin and scar collagens by an improved method.

Authors:  M Isemura; K Takahashi; T Ikenaka
Journal:  J Biochem       Date:  1976-10       Impact factor: 3.387

10.  Micromethod for the determination of glycosaminoglycans in the serum. Results from the serum of healthy and varicose subjects.

Authors:  P Niebes; M H Schifflers
Journal:  Clin Chim Acta       Date:  1975-07-23       Impact factor: 3.786
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  4 in total

1.  Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Authors:  J Bonaventure; C Lasselin; J Mellier; L Cohen-Solal; P Maroteaux
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:  Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal:  J Med Genet       Date:  2006-06-26       Impact factor: 6.318

3.  Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.

Authors:  François Cartault; Patrick Munier; Marie-Line Jacquemont; Jeannine Vellayoudom; Bérénice Doray; Christine Payet; Hanitra Randrianaivo; Jean-Marc Laville; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2014-04-23       Impact factor: 4.246

4.  Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus.

Authors:  M Vujic; K Hallstensson; J Wahlström; A Lundberg; C Langmaack; T Martinson
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025
  4 in total

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