The collagenopathies: review of clinical phenotypes and molecular correlations (Q38171408)

30 August 2017

title

The collagenopathies: review of clinical phenotypes and molecular correlations (English)

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30 August 2017

Rohan D'Souza

2

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Ravi Savarirayan

7

object named as

Ravi Savarirayan

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30 August 2017

Rebekah Jobling

1

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30 August 2017

Naomi Baker

3

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30 August 2017

Irene Lara-Corrales

4

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30 August 2017

Roberto Mendoza-Londono

5

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30 August 2017

Lucie Dupuis

6

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30 August 2017

L Ala-Kokko

8

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30 August 2017

Peter Kannu

9

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30 August 2017

publication date

1 January 2014

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Current Rheumatology Reports

30 August 2017

published in

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30 August 2017

volume

16

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30 August 2017

issue

1

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30 August 2017

page(s)

394

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Genetic and orthopedic aspects of collagen disorders.

30 August 2017

cites work

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Osteogenesis imperfecta

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Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

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Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type

21 January 2018

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Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen

21 January 2018

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Kniest dysplasia: radiologic, histopathological, and scanning electronmicroscopic findings.

21 January 2018

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Small deletions in the type II collagen triple helix produce Kniest dysplasia

21 January 2018

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Phenotypic and biochemical consequences of collagen X mutations in mice and humans

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Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.

21 January 2018

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A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.

21 January 2018

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Type II collagen gene variants and inherited osteonecrosis of the femoral head

21 January 2018

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Premature arthritis is a distinct type II collagen phenotype.

21 January 2018

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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

21 January 2018

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Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

21 January 2018

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The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure.

21 January 2018

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A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen

21 January 2018

1 reference

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Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

21 January 2018

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21 January 2018

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Treatment of vascular Ehlers-Danlos syndrome: a systematic review

21 January 2018

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Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

21 January 2018

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Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type

21 January 2018

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Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population

21 January 2018

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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

21 January 2018

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Ehlers-Danlos type IV in pregnancy. A case report and a literature review

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Management of pregnancy in patients with congenital heart disease

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets

21 January 2018

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Identification of S-hydroxylysyl-methionine as the covalent cross-link of the noncollagenous (NC1) hexamer of the alpha1alpha1alpha2 collagen IV network: a role for the post-translational modification of lysine 211 to hydroxylysine 211 in hexamer as

21 January 2018

1 reference

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Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly

21 January 2018

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De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

21 January 2018

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Role of COL4A1 in small-vessel disease and hemorrhagic stroke

21 January 2018

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COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

21 January 2018

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Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

21 January 2018

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Differential expression of two basement membrane collagen genes, COL4A6 and COL4A5, demonstrated by immunofluorescence staining using peptide-specific monoclonal antibodies

21 January 2018

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Alport syndrome--insights from basic and clinical research

21 January 2018

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Genotype-phenotype correlation in X-linked Alport syndrome

21 January 2018

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X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

21 January 2018

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COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome

21 January 2018

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Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

21 January 2018

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Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Pregnancy in women with Alport syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Management of renal disease in pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Electron-microscopical approach to a structural model of intima collagen

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Secretion and matrix assembly of recombinant type VI collagen.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Predominant fiber atrophy and fiber type disproportion in early ullrich disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

21 January 2018

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21 January 2018

12 December 2020

Autosomal recessive myosclerosis myopathy is a collagen VI disorder

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Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Type VII collagen is a major structural component of anchoring fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Transmembrane collagen XVII, an epithelial adhesion protein, is shed from the cell surface by ADAMs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

21 January 2018

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Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues

21 January 2018

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Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs

21 January 2018

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Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986-2006.

21 January 2018

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Epidermolysis bullosa acquisita

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Neonatal porencephaly and adult stroke related to mutations in collagen IV A1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11926-013-0394-3

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

21 January 2018

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Gynecologic and obstetric implications of the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome hypermobility type) in 82 Italian patients

21 January 2018

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Renal transplant in patients with Alport's syndrome

21 January 2018

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12 December 2020

Osteogenesis imperfecta associated with increased nuchal translucency as a first ultrasound sign: report of another case

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12 December 2020

Current and emerging treatments for the management of osteogenesis imperfecta.

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12 December 2020

COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

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12 December 2020

Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism

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12 December 2020

Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal dysplasia/spondyloepiphyseal dysplasia

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12 December 2020

Ocular manifestations of autosomal recessive Alport syndrome

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12 December 2020

Management of osteogenesis imperfecta in pregnancy. A case report

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12 December 2020

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

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12 December 2020

Clinical and Molecular genetics of Stickler syndrome

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12 December 2020

Osteogenesis imperfecta tarda; a study of 3 families with special reference to scar formation

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12 December 2020

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

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12 December 2020

Musculo-skeletal problems associated with pregnancy in women with osteogenesis imperfecta

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12 December 2020

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

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12 December 2020

Secretion and assembly of type IV and VI collagens depend on glycosylation of hydroxylysines

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12 December 2020

An unusual manifestation of bleeding diathesis in a patient with osteogenesis imperfecta.

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12 December 2020

Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis

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12 December 2020

Ehlers Danlos Syndrome Type IV and pregnancy

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12 December 2020

Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification

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12 December 2020

Osteogenesis Imperfecta: A Review with Clinical Examples.

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12 December 2020

Small deletions in the type II collagen triple helix produce kniest dysplasia

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12 December 2020

10.1007/S11926-013-0394-3

Identifiers

DOI

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Dimensions Publication ID

30 August 2017

1004368288

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