Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly (Q41268641)

28 September 2017

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly (English)

1 reference

Congenital contractural arachnodactyly

28 September 2017

0 references

0 references

author name string

E A Putnam

1

1 reference

28 September 2017

H Zhang

2

1 reference

28 September 2017

F Ramirez

3

1 reference

28 September 2017

D M Milewicz

4

1 reference

28 September 2017

language of work or name

English

0 references

publication date

1 December 1995

1 reference

28 September 2017

1 reference

28 September 2017

11

1 reference

28 September 2017

4

1 reference

28 September 2017

456-458

1 reference

https://scigraph.springernature.com/pub.10.1038/ng1295-456

28 September 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

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/10.1038%2FNG1295-456

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

The solution structure of human epidermal growth factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

A form of X-linked mental retardation with marfanoid habitus

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

Repeat polymorphisms in human fibrillin genes on chromosome 15 (FBN1) and chromosome 5 (FBN2)

1 reference

https://api.crossref.org/works/10.1038%2FNG1295-456

7 January 2021

Identifiers

DOI

10.1038/NG1295-456

1 reference

Dimensions Publication ID

28 September 2017

0 references

1 reference