(Q56998901)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Pascale Guicheney

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Luciano Merlini

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Giovanna Lattanzi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Cristina Capanni

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Elisabetta Mattioli

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Marta Columbaro

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

13

Nadir Mario Maraldi

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

2

Patrizia Sabatelli

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

3

Natascha Bergamin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

author name string

Ercan Demir

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Andrea Ognibene

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

Paolo Bonaldo

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

language of work or name

English

0 references

publication date

1 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

Journal of Cellular Physiology

13 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

volume

206

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

page(s)

160-166

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

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

13 January 2020

cites work

1 reference

The supramolecular organization of collagen VI microfibrils

21 January 2018

1 reference

Type VI collagen in extracellular, 100-nm periodic filaments and fibrils: identification by immunoelectron microscopy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Alternative splicing of transcripts for the alpha 3 chain of mouse collagen VI: identification of an abundant isoform lacking domains N7-N10 in mouse and human

21 January 2018

1 reference

Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency.

21 January 2018

1 reference

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

21 January 2018

1 reference

Ultrastructure of type VI collagen in human skin and cartilage suggests an anchoring function for this filamentous network

21 January 2018

1 reference

The role of the alpha3(VI) chain in collagen VI assembly. Expression of an alpha3(VI) chain lacking N-terminal modules N10-N7 restores collagen VI assembly, secretion, and matrix deposition in an alpha3(VI)-deficient cell line

21 January 2018

1 reference

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype

21 January 2018

1 reference

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

21 January 2018

1 reference

Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix

21 January 2018

1 reference

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JCP.20443

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15965965%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

1 reference