Literature DB >> 9152838

Ehlers-Danlos syndrome has varied molecular mechanisms.

F M Pope1, N P Burrows.   

Abstract

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Year:  1997        PMID： 9152838      PMCID： PMC1050948          DOI： 10.1136/jmg.34.5.400

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  84 in total

1.  Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

Authors:  W G Cole; D Chan; G W Chambers; I D Walker; J F Bateman
Journal:  J Biol Chem       Date:  1986-04-25       Impact factor: 5.157

2.  The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.

Authors:  W G Cole; R Evans; D O Sillence
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

3.  Pregnancy and Ehlers-Danlos syndrome type IV.

Authors:  F M Pope; A C Nicholls
Journal:  Lancet       Date:  1983-01-29       Impact factor: 79.321

4.  Ehlers-Danlos syndrome type VIII.

Authors:  D L Nelson; R A King
Journal:  J Am Acad Dermatol       Date:  1981-09       Impact factor: 11.527

5.  A new presumably autosomal recessive form of the Ehlers-Danlos syndrome.

Authors:  R P Beasley; M M Cohen
Journal:  Clin Genet       Date:  1979-07       Impact factor: 4.438

6.  Pregnancy complications in type IV Ehlers-Danlos Syndrome.

Authors:  N L Rudd; C Nimrod; K A Holbrook; P H Byers
Journal:  Lancet       Date:  1983-01-01       Impact factor: 79.321

7.  Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder.

Authors:  H M Sulh; B Steinmann; V H Rao; G Dudin; J A Zeid; M Slim; V M Der Kaloustian
Journal:  Clin Genet       Date:  1984-03       Impact factor: 4.438

8.  Characterization of the tissue form of type V collagen from chick bone.

Authors:  D L Broek; J Madri; E F Eikenberry; B Brodsky
Journal:  J Biol Chem       Date:  1985-01-10       Impact factor: 5.157

9.  Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

Authors:  B Steinmann; L Tuderman; L Peltonen; G R Martin; V A McKusick; D J Prockop
Journal:  J Biol Chem       Date:  1980-09-25       Impact factor: 5.157

10.  Collagen type I and type V are present in the same fibril in the avian corneal stroma.

Authors:  D E Birk; J M Fitch; J P Babiarz; T F Linsenmayer
Journal:  J Cell Biol       Date:  1988-03       Impact factor: 10.539
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  7 in total

1.  Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Authors:  Nazneen Rahman; Melanie Dunstan; M Dawn Teare; Sandra Hanks; Jenny Douglas; Kim Coleman; William E Bottomly; Mary E Campbell; Britta Berglund; Magnus Nordenskjöld; Bengt Forssell; Nigel Burrows; Peter Lunt; Ian Young; Nigel Williams; Graham R Bignell; P Andrew Futreal; F Michael Pope
Journal:  Am J Hum Genet       Date:  2003-05-29       Impact factor: 11.025

Review 2.  Matrix metalloproteinases and descending aortic aneurysms: parity, disparity, and switch.

Authors:  Tom P Theruvath; Jeffrey A Jones; John S Ikonomidis
Journal:  J Card Surg       Date:  2011-09-29       Impact factor: 1.620

Review 3.  Vascular wall extracellular matrix proteins and vascular diseases.

Authors:  Junyan Xu; Guo-Ping Shi
Journal:  Biochim Biophys Acta       Date:  2014-07-18

Review 4.  Recent advances in the use of serological bone formation markers to monitor callus development and fracture healing.

Authors:  Marlon O Coulibaly; Debra L Sietsema; Travis A Burgers; Jim Mason; Bart O Williams; Clifford B Jones
Journal:  Crit Rev Eukaryot Gene Expr       Date:  2010       Impact factor: 1.807

5.  A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families.

Authors:  N P Burrows; A C Nicholls; A J Richards; C Luccarini; J B Harrison; J R Yates; F M Pope
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

6.  Metalloproteases meprin α and meprin β are C- and N-procollagen proteinases important for collagen assembly and tensile strength.

Authors:  Claudia Broder; Philipp Arnold; Sandrine Vadon-Le Goff; Moritz A Konerding; Kerstin Bahr; Stefan Müller; Christopher M Overall; Judith S Bond; Tomas Koudelka; Andreas Tholey; David J S Hulmes; Catherine Moali; Christoph Becker-Pauly
Journal:  Proc Natl Acad Sci U S A       Date:  2013-08-12       Impact factor: 11.205

7.  Lumican regulates collagen fibril assembly: skin fragility and corneal opacity in the absence of lumican.

Authors:  S Chakravarti; T Magnuson; J H Lass; K J Jepsen; C LaMantia; H Carroll
Journal:  J Cell Biol       Date:  1998-06-01       Impact factor: 10.539
  7 in total

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