(Q52059938)

20 April 2018

title

Defective protein glycosylation in patients with cutis laxa syndrome. (English)

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20 April 2018

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author name string

Eva Morava

1

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20 April 2018

Suzan Wopereis

2

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Paul Coucke

3

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Gabrielle Gillessen-Kaesbach

4

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Thomas Voit

5

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Jan Smeitink

6

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Stephanie Grünewald

8

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publication date

1 April 2005

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20 April 2018

European Journal of Human Genetics

published in

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volume

13

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page(s)

414-421

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issue

4

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201361

exact match

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cites work

Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene

1 reference

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Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Facial anomalies in congenital cutis laxa with retarded growth and skeletal dysplasia.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Fibulin-5/DANCE is essential for elastogenesis in vivo

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Congenital disorders of glycosylation: a review

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes

21 January 2018

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Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Codistribution analysis of elastin and related fibrillar proteins in early vertebrate development.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

Fibulin-5 is an elastin-binding protein essential for elastic fibre development in vivo

21 January 2018

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Fibulins: physiological and disease perspectives.

21 January 2018

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Fibulins: a versatile family of extracellular matrix proteins

21 January 2018

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Prediction of O-glycosylation of mammalian proteins: specificity patterns of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase

21 January 2018

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A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics

21 January 2018

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Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

21 January 2018

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Autosomal recessive form of congenital cutis laxa: more than the clinical appearance

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

7 January 2021

The dominant and recessive forms of cutis laxa

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

7 January 2021

Congenital cutis laxa with ligamentous laxity and delayed development, Dandy-Walker malformation and minor heart and osseous defects.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201361

7 January 2021

The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201361

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20 April 2018

PubMed ID

15657616

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20 April 2018