Sheldon R. Pinnell

Two sisters nine and 12 years of age presented with a similar clinical picture consisting of severe scoliosis, recurrent joint dislocation and hyperextensible skin and joints. Amino acid analyses of dermal collagen revealed marked decrease in hydroxylysine content; skin from a clinically normal older sister and from the parents was normal in amino acid content. Collagen fibrils were normal morphologically. Dermal collagen from the affected children was more soluble in denaturing solvents than that derived from controls. Hydroxylysine content was also reduced in lumbodorsal fascia, variably reduced in bone and normal in a single sample of costal cartilage. The defect is probably inherited as an autosomal recessive and due to a deficiency of enzymatic hydroxylation of lysine in collagen, which in turn results in decreased structural integrity of this important protein.

ADVERTISEMENT RETURN TO ISSUEPREVArticleNEXTCross-linking of collagen and elastin. Properties of lysyl oxidaseRobert C. Siegel, Sheldon R. Pinnell, and George R. MartinCite this: Biochemistry 1970, 9, 23, 4486–4492Publication Date (Print):November 1, 1970Publication History Published online1 May 2002Published inissue 1 November 1970https://doi.org/10.1021/bi00825a004RIGHTS & PERMISSIONSArticle Views1202Altmetric-Citations259LEARN ABOUT THESE METRICSArticle Views are the COUNTER-compliant sum of full text article downloads since November 2008 (both PDF and HTML) across all institutions and individuals. These metrics are regularly updated to reflect usage leading up to the last few days.Citations are the number of other articles citing this article, calculated by Crossref and updated daily. Find more information about Crossref citation counts.The Altmetric Attention Score is a quantitative measure of the attention that a research article has received online. Clicking on the donut icon will load a page at altmetric.com with additional details about the score and the social media presence for the given article. Find more information on the Altmetric Attention Score and how the score is calculated. Share Add toView InAdd Full Text with ReferenceAdd Description ExportRISCitationCitation and abstractCitation and referencesMore Options Share onFacebookTwitterWechatLinked InReddit PDF (740 KB) Get e-Alerts Get e-Alerts