Literature DB >> 11342567

The Ehlers-Danlos syndrome: on beyond collagens.

J R Mao1, J Bristow.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2001        PMID： 11342567      PMCID： PMC209288          DOI： 10.1172/JCI12881

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


× No keyword cloud information.
  37 in total

1.  Skin wounds and severed nerves heal normally in mice lacking tenascin-C.

Authors:  E Forsberg; E Hirsch; L Fröhlich; M Meyer; P Ekblom; A Aszodi; S Werner; R Fässler
Journal:  Proc Natl Acad Sci U S A       Date:  1996-06-25       Impact factor: 11.205

2.  A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I).

Authors:  R J Wenstrup; G T Langland; M C Willing; V N D'Souza; W G Cole
Journal:  Hum Mol Genet       Date:  1996-11       Impact factor: 6.150

3.  Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.

Authors:  K Andrikopoulos; X Liu; D R Keene; R Jaenisch; F Ramirez
Journal:  Nat Genet       Date:  1995-01       Impact factor: 38.330

4.  Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.

Authors:  X Liu; H Wu; M Byrne; S Krane; R Jaenisch
Journal:  Proc Natl Acad Sci U S A       Date:  1997-03-04       Impact factor: 11.205

5.  Tenascin-X deficiency is associated with Ehlers-Danlos syndrome.

Authors:  G H Burch; Y Gong; W Liu; R W Dettman; C J Curry; L Smith; W L Miller; J Bristow
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

6.  Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.

Authors:  K Michalickova; M Susic; M C Willing; R J Wenstrup; W G Cole
Journal:  Hum Mol Genet       Date:  1998-02       Impact factor: 6.150

7.  An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.

Authors:  A C Nicholls; J E Oliver; S McCarron; J B Harrison; D S Greenspan; F M Pope
Journal:  J Med Genet       Date:  1996-11       Impact factor: 6.318

8.  Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility.

Authors:  K G Danielson; H Baribault; D F Holmes; H Graham; K E Kadler; R V Iozzo
Journal:  J Cell Biol       Date:  1997-02-10       Impact factor: 10.539

9.  COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.

Authors:  D S Greenspan; H Northrup; K S Au; K A McAllister; C A Francomano; R J Wenstrup; D A Marchuk; D J Kwiatkowski
Journal:  Genomics       Date:  1995-02-10       Impact factor: 5.736

10.  Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis.

Authors:  T R Kyriakides; Y H Zhu; L T Smith; S D Bain; Z Yang; M T Lin; K G Danielson; R V Iozzo; M LaMarca; C E McKinney; E I Ginns; P Bornstein
Journal:  J Cell Biol       Date:  1998-01-26       Impact factor: 10.539
View more
  30 in total

Review 1.  Regulation of interactions between cells and extracellular matrix: a command performance on several stages.

Authors:  E H Sage
Journal:  J Clin Invest       Date:  2001-04       Impact factor: 14.808

2.  Development of a functional skin matrix requires deposition of collagen V heterotrimers.

Authors:  Hélène Chanut-Delalande; Christelle Bonod-Bidaud; Sylvain Cogne; Marilyne Malbouyres; Francesco Ramirez; Agnès Fichard; Florence Ruggiero
Journal:  Mol Cell Biol       Date:  2004-07       Impact factor: 4.272

3.  The Mohawk homeobox gene is a critical regulator of tendon differentiation.

Authors:  Yoshiaki Ito; Naoya Toriuchi; Teruhito Yoshitaka; Hiroe Ueno-Kudoh; Tempei Sato; Shigetoshi Yokoyama; Keiichiro Nishida; Takayuki Akimoto; Michiko Takahashi; Shigeru Miyaki; Hiroshi Asahara
Journal:  Proc Natl Acad Sci U S A       Date:  2010-05-24       Impact factor: 11.205

Review 4.  Extracellular matrix molecules: potential targets in pharmacotherapy.

Authors:  Hannu Järveläinen; Annele Sainio; Markku Koulu; Thomas N Wight; Risto Penttinen
Journal:  Pharmacol Rev       Date:  2009-06       Impact factor: 25.468

5.  A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.

Authors:  Yoshihiro Ishikawa; Hans Peter Bächinger
Journal:  J Biol Chem       Date:  2014-05-12       Impact factor: 5.157

Review 6.  Significance of main pulmonary artery dilation on imaging studies.

Authors:  Timothy E Raymond; Joseph E Khabbaza; Ruchi Yadav; Adriano R Tonelli
Journal:  Ann Am Thorac Soc       Date:  2014-12

7.  Lysyl oxidase deficiency: a new cause of human arterial dissection.

Authors:  I Sibon; P Sommer; J M Daniel Lamaziere; J Bonnet
Journal:  Heart       Date:  2005-05       Impact factor: 5.994

Review 8.  Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans.

Authors:  Shuji Mizumoto; Shiro Ikegawa; Kazuyuki Sugahara
Journal:  J Biol Chem       Date:  2013-03-01       Impact factor: 5.157

9.  Severe osteogenesis imperfecta in cyclophilin B-deficient mice.

Authors:  Jae Won Choi; Shari L Sutor; Lonn Lindquist; Glenda L Evans; Benjamin J Madden; H Robert Bergen; Theresa E Hefferan; Michael J Yaszemski; Richard J Bram
Journal:  PLoS Genet       Date:  2009-12-04       Impact factor: 5.917

10.  Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

Authors:  Deborah P Merke; Wuyan Chen; Rachel Morissette; Zhi Xu; Carol Van Ryzin; Vandana Sachdev; Hwaida Hannoush; Sujata M Shanbhag; Ana T Acevedo; Miki Nishitani; Andrew E Arai; Nazli B McDonnell
Journal:  J Clin Endocrinol Metab       Date:  2013-01-02       Impact factor: 5.958
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.