(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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page(s)

981-6

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issue

2

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cites work

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

1 reference

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

Heterogeneity of rat tropoelastin mRNA revealed by cDNA cloning

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Supravalvular aortic stenosis associated with a deletion disrupting the elastin gene

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

1 reference

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

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

21 January 2018

1 reference

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

A to G polymorphism in ELN gene

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

Pseudoxanthoma elasticum

1 reference

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

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

1 reference

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

7 January 2021

Cutis laxa with ultrastructural abnormalities of elastic fiber

1 reference

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

1 reference

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

7 January 2021

Heterogeneity of elastin expression in cutis laxa fibroblast strains

1 reference

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

7 January 2021

Cutis laxa: autosomal dominant inheritance in five generations

1 reference

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

7 January 2021