Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit. (Q52431634)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29666143%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

title

Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit (English)

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23 March 2020

7

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23 March 2020

Liangxue Lai

13

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23 March 2020

author name string

Mao Chen

1

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23 March 2020

Bing Yao

2

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23 March 2020

Qiangbing Yang

3

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23 March 2020

Jichao Deng

4

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23 March 2020

Yuning Song

5

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23 March 2020

Tingting Sui

6

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23 March 2020

HaoBing Yao

8

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23 March 2020

Yuanyuan Xu

9

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23 March 2020

Hongsheng Ouyang

10

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23 March 2020

Daxin Pang

11

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23 March 2020

Zhanjun Li

12

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23 March 2020

publication date

9 April 2018

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Disease Models & Mechanisms

23 March 2020

published in

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23 March 2020

volume

11

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23 March 2020

issue

4

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Creative Commons Attribution 3.0 Unported

23 March 2020

copyright license

start time

18 May 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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16 June 2018

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13 August 2018

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13 August 2018

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13 August 2018

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13 August 2018

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13 August 2018

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Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

13 August 2018

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13 August 2018

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Bovine model of Marfan syndrome results from an amino acid change (c.3598G > A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1.

13 August 2018

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Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.

13 August 2018

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Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

13 August 2018

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Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

13 August 2018

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12 December 2020

Isolation and culture of skin fibroblasts

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12 December 2020

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

1 reference

12 December 2020

Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene

1 reference

12 December 2020

[The morphology and thickness of cornea in patients with Marfan syndrome]

1 reference

12 December 2020

Development of the oxytalan fiber system in the rat molar periodontal ligament evaluated by light- and electron-microscopic analyses

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12 December 2020

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome

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12 December 2020

The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele

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12 December 2020

Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome

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12 December 2020

Identifiers

DOI

10.1242/DMM.031542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29666143%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29666143%20AND%20SRC:MED&resulttype=core&format=json

23 March 2020

1 reference