Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN) (Q22008606)

GOA release 2020-03-11

blood circulation

1 reference

GOA release 2020-03-11

1 reference

M C Zhang

1

M C

Zhang

1 reference

7 February 2023

L He

2

L

He

1 reference

7 February 2023

M Giro

3

M

Giro

1 reference

7 February 2023

S L Yong

4

S L

Yong

1 reference

7 February 2023

G E Tiller

5

G E

Tiller

1 reference

7 February 2023

J M Davidson

6

J M

Journal of Biological Chemistry

Davidson

1 reference

7 February 2023

language of work or name

English

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publication date

8 January 1999

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published in

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volume

274

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issue

2

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page(s)

981-6

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cites work

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

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Heterogeneity of rat tropoelastin mRNA revealed by cDNA cloning

21 January 2018

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Demonstration of elastin gene expression in human skin fibroblast cultures and reduced tropoelastin production by cells from a patient with atrophoderma

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Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

21 January 2018

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The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.2.981

Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis.

21 January 2018

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https://api.crossref.org/works/10.1074%2FJBC.274.2.981

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

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Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

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Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

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Genetic approaches to cardiovascular disease. Supravalvular aortic stenosis, Williams syndrome, and long-QT syndrome.

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Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

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Transforming growth factor-beta reverses a posttranscriptional defect in elastin synthesis in a cutis laxa skin fibroblast strain

21 January 2018

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Characterization of a type VI collagen-related Mr-140 000 protein from cutis-laxa fibroblasts in culture

21 January 2018

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

21 January 2018

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Cloning of full-length elastin cDNAs from a human skin fibroblast recombinant cDNA library: further elucidation of alternative splicing utilizing exon-specific oligonucleotides

21 January 2018

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Structure of the 3' region of the human elastin gene: great abundance of Alu repetitive sequences and few coding sequences

21 January 2018

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A to G polymorphism in ELN gene

21 January 2018

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Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

21 January 2018

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An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

21 January 2018

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Alternative splicing: a mechanism for phenotypic rescue of a common inherited defect

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Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life.

21 January 2018

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Blockage of tropoelastin secretion by monensin represses tropoelastin synthesis at a pretranslational level in rat smooth muscle cells

21 January 2018

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Identification of a TGF-β Responsive Element in the Human Elastin Promoter

21 January 2018

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Ultrastructural analysis of skin and aorta from a patient with Menkes disease

21 January 2018

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7 January 2021

Autoregulation of tubulin expression is achieved through specific degradation of polysomal tubulin mRNAs

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7 January 2021

Pseudoxanthoma elasticum

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7 January 2021

The cysteine residues in the carboxy terminal domain of tropoelastin form an intrachain disulfide bond that stabilizes a loop structure and positively charged pocket

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https://api.crossref.org/works/10.1074%2FJBC.274.2.981

7 January 2021

Cutis laxa with ultrastructural abnormalities of elastic fiber

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https://api.crossref.org/works/10.1074%2FJBC.274.2.981

7 January 2021

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

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7 January 2021

Heterogeneity of elastin expression in cutis laxa fibroblast strains

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https://api.crossref.org/works/10.1074%2FJBC.274.2.981

7 January 2021

Cutis laxa: autosomal dominant inheritance in five generations

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https://api.crossref.org/works/10.1074%2FJBC.274.2.981

7 January 2021