(Q35680230)

9 August 2017

title

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family (English)

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9 August 2017

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Jiamei Dong

1

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9 August 2017

Juan Bu

2

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9 August 2017

Wei Du

3

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9 August 2017

Yuan Li

4

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9 August 2017

Yanlei Jia

5

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9 August 2017

Jianchang Li

6

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9 August 2017

Xiaoli Meng

7

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9 August 2017

Minghui Yuan

8

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9 August 2017

Xiaojuan Peng

9

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9 August 2017

Aimin Zhou

10

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9 August 2017

Lejin Wang

11

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9 August 2017

publication date

13 January 2012

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9 August 2017

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9 August 2017

volume

18

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9 August 2017

page(s)

81-86

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Targeting of bone morphogenetic protein growth factor complexes to fibrillin

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

A narrative review of pathophysiological mechanisms associated with cervical artery dissection

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Marfan syndrome: clinical diagnosis and management

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

The molecular genetics of Marfan syndrome and related disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

The prodomain of BMP-7 targets the BMP-7 complex to the extracellular matrix

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Heterozygous TGFBR2 mutations in Marfan syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

The molecular genetics of Marfan syndrome and related microfibrillopathies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Marfan syndrome. Part 1: pathophysiology and diagnosis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Fibrillin-1, a calcium binding protein of extracellular matrix

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3261084

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders

25 September 2018

1 reference

12 December 2020

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

1 reference

12 December 2020

Cardiovascular reoperations in Marfan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Marfan's syndrome and related disorders--more tightly connected than we thought

1 reference

12 December 2020

Identifiers

PMC publication ID

3261084

1 reference

9 August 2017

1 reference