Literature DB >> 5016372

A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease.

S R Pinnell, S M Krane, J E Kenzora, M J Glimcher.   

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Year:  1972        PMID: 5016372     DOI: 10.1056/NEJM197205112861901

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  69 in total

Review 1.  Molecular abnormalities of collagen.

Authors:  F M Pope; A C Nicholls
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1978

2.  Lysyl hydroxylation in collagens from hyperplastic callus and embryonic bones.

Authors:  H W Lehmann; M Bodo; C Frohn; A Nerlich; D Rimek; H Notbohm; P K Müller
Journal:  Biochem J       Date:  1992-03-01       Impact factor: 3.857

3.  The origin of urinary hydroxylysyl glycosides in Paget's disease of bone and in primary hyperparathyroidism.

Authors:  R Askenasi; M De Backer; A Devos
Journal:  Calcif Tissue Res       Date:  1976-11-24

4.  Connective tissue metabolism in culture fibroblasts of a patient with Ehlers-Danlos syndrome type I.

Authors:  H Shinkai; O Hirabayashi; A Tamaki; S Matsubayashi; S Sano
Journal:  Arch Dermatol Res       Date:  1976-12-15       Impact factor: 3.017

5.  Biochemical characteristics and biological significance of the genetically-distinct collagens.

Authors:  E J Miller
Journal:  Mol Cell Biochem       Date:  1976-12-10       Impact factor: 3.396

6.  Pathology of collagen degradation. A review.

Authors:  R Pérez-Tamayo
Journal:  Am J Pathol       Date:  1978-08       Impact factor: 4.307

7.  Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.

Authors:  J Heikkinen; T Toppinen; H Yeowell; T Krieg; B Steinmann; K I Kivirikko; R Myllylä
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

8.  Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen.

Authors:  S M Krane; S R Pinnell; R W Erbe
Journal:  Proc Natl Acad Sci U S A       Date:  1972-10       Impact factor: 11.205

9.  Marfan syndrome: abnormal alpha 2 chain in type I collagen.

Authors:  P H Byers; R C Siegel; K E Peterson; D W Rowe; K A Holbrook; L T Smith; Y H Chang; J C Fu
Journal:  Proc Natl Acad Sci U S A       Date:  1981-12       Impact factor: 11.205

10.  Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis.

Authors:  M Aumailley; T Krieg; W Dessau; P K Müller; R Timpl; H Bricaud
Journal:  Arch Dermatol Res       Date:  1980       Impact factor: 3.017

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