Literature DB >> 3549080

Heritable skin diseases with molecular defects in collagen or elastin.

J Uitto, A Shamban.   

Abstract

The recent progress made in understanding the normal biology and biochemistry of the extracellular matrix of human skin has allowed us to identify several different levels at which errors could be introduced into the structure and metabolism of collagen or elastin, the two major fibrillar components of the dermis. Currently, several heritable cutaneous diseases are known to display distinct collagen or elastin abnormalities. This article reviews some of the heritable cutaneous diseases and highlights those entities in which definite information on molecular alterations in collagen or elastin is available.

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Year:  1987        PMID: 3549080

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  9 in total

1.  Periostin regulates collagen fibrillogenesis and the biomechanical properties of connective tissues.

Authors:  Russell A Norris; Brook Damon; Vladimir Mironov; Vladimir Kasyanov; Anand Ramamurthi; Ricardo Moreno-Rodriguez; Thomas Trusk; Jay D Potts; Richard L Goodwin; Jeff Davis; Stanley Hoffman; Xuejun Wen; Yukiko Sugi; Christine B Kern; Corey H Mjaatvedt; Debi K Turner; Toru Oka; Simon J Conway; Jeffery D Molkentin; Gabor Forgacs; Roger R Markwald
Journal:  J Cell Biochem       Date:  2007-06-01       Impact factor: 4.429

2.  Analysis of ABCC6 (MRP6) in normal human tissues.

Authors:  Konstanze Beck; Kimiko Hayashi; Ka'ohimanu Dang; Masando Hayashi; Charles D Boyd
Journal:  Histochem Cell Biol       Date:  2005-05-12       Impact factor: 4.304

3.  A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Authors:  O Le Saux; K Beck; C Sachsinger; C Silvestri; C Treiber; H H Göring; E W Johnson; A De Paepe; F M Pope; I Pasquali-Ronchetti; L Bercovitch; A S Marais; D L Viljoen; S F Terry; C D Boyd
Journal:  Am J Hum Genet       Date:  2001-08-31       Impact factor: 11.025

4.  Serum factors from pseudoxanthoma elasticum patients alter elastic fiber formation in vitro.

Authors:  Olivier Le Saux; Severa Bunda; Christopher M VanWart; Vanessa Douet; Laurence Got; Ludovic Martin; Aleksander Hinek
Journal:  J Invest Dermatol       Date:  2006-03-16       Impact factor: 8.551

Review 5.  Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature.

Authors:  H M Al Attia; A M Sherif
Journal:  Clin Rheumatol       Date:  1998       Impact factor: 2.980

6.  Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain.

Authors:  M C Zhang; M Giro; D Quaglino; J M Davidson
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

Review 7.  ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.

Authors:  Briana K Shimada; Viola Pomozi; Janna Zoll; Sheree Kuo; Ludovic Martin; Olivier Le Saux
Journal:  Int J Mol Sci       Date:  2021-04-27       Impact factor: 5.923

Review 8.  The skin: a mirror to the gut.

Authors:  Vishal Ghevariya; Shashideep Singhal; Sury Anand
Journal:  Int J Colorectal Dis       Date:  2013-01-18       Impact factor: 2.796

9.  Surgical correction of pseudoxanthoma elasticum.

Authors:  Manjot Marwah; Kiran Godse; Sharmila Patil; Nitin Nadkarni; Manjyot Gautam
Journal:  J Cutan Aesthet Surg       Date:  2012-07
  9 in total

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