Recent progress in genetics of Marfan syndrome and Marfan-associated disorders (Q36633070)

15 August 2017

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title

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders (English)

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15 August 2017

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Takeshi Mizuguchi

1

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PubMed ID

17061023

15 August 2017

Naomichi Matsumoto

series ordinal

2

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15 August 2017

24 October 2006

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Journal of Human Genetics

15 August 2017

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15 August 2017

52

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15 August 2017

1

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15 August 2017

1-12

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https://scigraph.springernature.com/pub.10.1007/s10038-006-0078-1

15 August 2017

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cites work

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

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https://api.crossref.org/works/10.1007%2FS10038-006-0078-1

Genetic basis of thoracic aortic aneurysms and aortic dissections

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0078-1

Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0078-1

Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10038-006-0078-1

Molecular genetics of Marfan syndrome

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome

1 reference

12 December 2020

Making sense of latent TGFbeta activation

1 reference

12 December 2020

Latent transforming growth factor-beta (TGF-beta) binding proteins: orchestrators of TGF-beta availability

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12 December 2020

The question of heterogeneity in Marfan syndrome

1 reference

12 December 2020

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

12 December 2020

Parathyroid hormone-related peptide (PTHrP)-dependent and -independent effects of transforming growth factor beta (TGF-beta) on endochondral bone formation

1 reference

12 December 2020

Aneurysm syndromes caused by mutations in the TGF-beta receptor

1 reference

12 December 2020

Molecular pathology of Shprintzen-Goldberg syndrome

1 reference

12 December 2020

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

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12 December 2020

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

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12 December 2020

Revised diagnostic criteria for the Marfan syndrome

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12 December 2020

GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex

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12 December 2020

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

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12 December 2020

Marfan syndrome or Marfan-like connective-tissue disorder

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

1 reference

12 December 2020

Fine tuning of growth factor signals depends on fibrillin microfibril networks

1 reference

12 December 2020

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

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12 December 2020

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

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12 December 2020

TGF-beta signaling in tumor suppression and cancer progression

1 reference

12 December 2020

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

1 reference

12 December 2020

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14

1 reference

12 December 2020

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

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12 December 2020

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

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12 December 2020

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

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12 December 2020

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12 December 2020

Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology

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12 December 2020

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

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12 December 2020

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

1 reference

12 December 2020

Fibroblast-specific Expression of a Kinase-deficient Type II Transforming Growth Factor β (TGFβ) Receptor Leads to Paradoxical Activation of TGFβ Signaling Pathways with Fibrosis in Transgenic Mice

1 reference

12 December 2020

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

1 reference

12 December 2020

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

1 reference

12 December 2020

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

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12 December 2020

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

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12 December 2020

Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

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12 December 2020

Heterozygous TGFBR2 mutations in Marfan syndrome

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12 December 2020

TGF beta/Smad signaling system and its pathologic correlates

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12 December 2020

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

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12 December 2020

Clinical features in a family with an R460H mutation in transforming growth factor beta receptor 2 gene

1 reference

12 December 2020

Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein

1 reference

12 December 2020

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

1 reference

12 December 2020

Mechanism of activation of the TGF-beta receptor

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12 December 2020

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

1 reference

12 December 2020

Transforming growth factor-beta stimulates the expression of fibronectin and collagen and their incorporation into the extracellular matrix

1 reference

12 December 2020

The molecular genetics of Marfan syndrome and related microfibrillopathies

1 reference

12 December 2020

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

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12 December 2020

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

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12 December 2020

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

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12 December 2020

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

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12 December 2020

Signaling via hetero-oligomeric complexes of type I and type II serine/threonine kinase receptors

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12 December 2020

Unique and redundant roles of Smad3 in TGF-beta-mediated regulation of long bone development in organ culture

1 reference

12 December 2020

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

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12 December 2020

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

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12 December 2020

Fibrillin controls TGF-beta activation

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12 December 2020

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

1 reference

12 December 2020

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

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12 December 2020

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

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12 December 2020

Identification of a novel TGFBR2 gene mutation in a Korean patient with Loeys-Dietz aortic aneurysm syndrome; no mutation in TGFBR2 gene in 30 patients with classic Marfan's syndrome

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12 December 2020

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

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12 December 2020

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

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12 December 2020

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

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12 December 2020

TGFbeta signaling in growth control, cancer, and heritable disorders

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12 December 2020

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

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12 December 2020

Ectopia lentis phenotypes and the FBN1 gene

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12 December 2020

New Marfanoid syndrome with craniosynostosis

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12 December 2020

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy

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12 December 2020

10.1007/S10038-006-0078-1

Identifiers

DOI

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15 August 2017

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PubMed ID

17061023