Literature DB >> 10053000

The molecular basis of vascular disorders.

J A Towbin1, B Casey, J Belmont.   

Abstract

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Year:  1999        PMID: 10053000      PMCID: PMC1377783          DOI: 10.1086/302303

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


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  26 in total

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

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3.  Supravalvular aortic stenosis. Clinical and pathologic observations in six patients.

Authors:  W N O'Connor; J B Davis; R Geissler; C M Cottrill; J A Noonan; E P Todd
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4.  The natural course of supravalvar aortic stenosis and peripheral pulmonary artery stenosis in Williams's syndrome.

Authors:  N G Giddins; J P Finley; M A Nanton; D L Roy
Journal:  Br Heart J       Date:  1989-10

5.  Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.

Authors:  B Funke; A Puech; B Saint-Jore; R Pandita; A Skoultchi; B Morrow
Journal:  Genomics       Date:  1998-10-15       Impact factor: 5.736

6.  Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1.

Authors:  K A McAllister; K M Grogg; D W Johnson; C J Gallione; M A Baldwin; C E Jackson; E A Helmbold; D S Markel; W C McKinnon; J Murrell
Journal:  Nat Genet       Date:  1994-12       Impact factor: 38.330

7.  Coarctation, tubular hypoplasia, and the ductus arteriosus. Histological study of 35 specimens.

Authors:  S Y Ho; R H Anderson
Journal:  Br Heart J       Date:  1979-03

8.  Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2-5.

Authors:  I Lyons; L M Parsons; L Hartley; R Li; J E Andrews; L Robb; R P Harvey
Journal:  Genes Dev       Date:  1995-07-01       Impact factor: 11.361

9.  Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB.

Authors:  R Kosaki; M Gebbia; K Kosaki; M Lewin; P Bowers; J A Towbin; B Casey
Journal:  Am J Med Genet       Date:  1999-01-01

Review 10.  Autosomal dominant supravalvular aortic stenosis: large three-generation family.

Authors:  M A Schmidt; G J Ensing; V V Michels; G A Carter; D J Hagler; R H Feldt
Journal:  Am J Med Genet       Date:  1989-03
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2.  The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome.

Authors:  T K Cooper; Q Zhong; M Krawczyk; H-J Tae; G A Müller; R Schubert; L A Myers; H C Dietz; M I Talan; W Briest
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3.  Modification of the secretion pattern of proteases, inflammatory mediators, and extracellular matrix proteins by human aortic valve is key in severe aortic stenosis.

Authors:  Gloria Alvarez-Llamas; Tatiana Martín-Rojas; Fernando de la Cuesta; Enrique Calvo; Felix Gil-Dones; Veronica M Dardé; Luis F Lopez-Almodovar; Luis R Padial; Juan-Antonio Lopez; Fernando Vivanco; Maria G Barderas
Journal:  Mol Cell Proteomics       Date:  2013-05-23       Impact factor: 5.911

Review 4.  Probing human cardiovascular congenital disease using transgenic mouse models.

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5.  Oral hygiene and periodontal conditions in the Chinese patients with aortic aneurysm.

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  5 in total

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