Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome (Q22065344)

2

0 references

Douglas R. Keene

3

0 references

Jessica Geubtner

4

author given names

Jessica

author last names

Geubtner

1 reference

PubMed publication ID

15254584

7 February 2023

Loretha Myers

5

author given names

Loretha

author last names

Myers

1 reference

PubMed publication ID

15254584

7 February 2023

David L. Huso

6

0 references

Lynn Y. Sakai

7

0 references

Harry C. Dietz

8

0 references

Daniel P Judge

1

0 references

Nancy J Biery

2

0 references

Douglas R Keene

3

0 references

David L Huso

6

0 references

Lynn Y Sakai

7

0 references

Harry C Dietz

Journal of Clinical Investigation

8

0 references

language of work or name

English

0 references

publication date

15 July 2004

0 references

July 2004

0 references

published in

0 references

volume

114

0 references

issue

2

0 references

page(s)

172-181

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172-81

0 references

cites work

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

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Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

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29 November 2018

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Life expectancy in the Marfan syndrome

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12 December 2020

Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly

1 reference

12 December 2020

Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome

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12 December 2020

FBN1 exon 2 splicing error in a patient with Marfan syndrome

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

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12 December 2020

Fibrillin secretion and microfibril assembly by Marfan dermal fibroblasts

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12 December 2020

Fibrillin: monomers and microfibrils

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12 December 2020

The question of heterogeneity in Marfan syndrome

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12 December 2020

Dermal fibroblast culture as a model system for studies of fibrillin assembly and pathogenetic mechanisms: defects in distinct groups of individuals with Marfan's syndrome

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12 December 2020

Identifiers

DOI

10.1172/JCI20641

1 reference

2322214

10.1172/JCI200420641

1 reference

2322214

1 reference

2322214

1 reference

1 reference

PubMed publication ID

15254584

1 reference