(Q38903109)

7 September 2017

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title

FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders (English)

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7 September 2017

Gene Wiki Review Series

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Julie De Backer

4

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author name string

Lynn Y Sakai

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1

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7 September 2017

Douglas R Keene

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2

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7 September 2017

Marjolijn Renard

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3

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7 September 2017

language of work or name

English

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publication date

17 July 2016

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7 September 2017

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7 September 2017

591

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7 September 2017

1

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7 September 2017

279-291

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Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

7 September 2017

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12 December 2020

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

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12 December 2020

Nonsense-mediated mRNA decay in health and disease

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12 December 2020

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes

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12 December 2020

Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1

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12 December 2020

Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation

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12 December 2020

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12 December 2020

Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta

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12 December 2020

The supramolecular organization of fibrillin-rich microfibrils.

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12 December 2020

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

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12 December 2020

FBN1 exon 2 splicing error in a patient with Marfan syndrome

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12 December 2020

Multi-exon deletions of the FBN1 gene in Marfan syndrome

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12 December 2020

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype

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12 December 2020

Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations

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12 December 2020

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

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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

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

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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

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

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12 December 2020

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

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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

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

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12 December 2020

Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues

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12 December 2020

MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils

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12 December 2020

Heterozygous TGFBR2 mutations in Marfan syndrome

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12 December 2020

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

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12 December 2020

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

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12 December 2020

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

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12 December 2020

Role of hyperhomocysteinemia in aortic disease.

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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

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

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12 December 2020

The early history of TGF-beta, and a brief glimpse of its future

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12 December 2020

Fibrillins 1 and 2 perform partially overlapping functions during aortic development

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12 December 2020

The molecular genetics of Marfan syndrome and related disorders

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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

Guest editorial letter: Molecular machines in the matrix?

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12 December 2020

Effects of fibrillin-1 degradation on microfibril ultrastructure.

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12 December 2020

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome

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12 December 2020

Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states

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12 December 2020

Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin.

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12 December 2020

LTBP-2 specifically interacts with the amino-terminal region of fibrillin-1 and competes with LTBP-1 for binding to this microfibrillar protein

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12 December 2020

Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene.

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12 December 2020

Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome

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12 December 2020

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations

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12 December 2020

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

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12 December 2020

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

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12 December 2020

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

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12 December 2020

Targeting of bone morphogenetic protein growth factor complexes to fibrillin

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12 December 2020

Severe Marfan syndrome due to FBN1 exon deletions

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12 December 2020

Medical management of Marfan syndrome

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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

Partial sequence of a candidate gene for the Marfan syndrome

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12 December 2020

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

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12 December 2020

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

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12 December 2020

A new model for growth factor activation: type II receptors compete with the prodomain for BMP-7

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12 December 2020

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

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12 December 2020

Compound-heterozygous Marfan syndrome

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12 December 2020

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

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12 December 2020

A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

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12 December 2020

Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites

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12 December 2020

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

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12 December 2020

ADAMTSL-6 is a novel extracellular matrix protein that binds to fibrillin-1 and promotes fibrillin-1 fibril formation

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12 December 2020

Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils

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12 December 2020

Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome

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12 December 2020

Microfibril structure masks fibrillin-2 in postnatal tissues

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12 December 2020

In vivo studies of mutant fibrillin-1 microfibrils

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12 December 2020

The clinical spectrum of complete FBN1 allele deletions

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12 December 2020

Prodomains of transforming growth factor beta (TGFbeta) superfamily members specify different functions: extracellular matrix interactions and growth factor bioavailability

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12 December 2020

A new mouse model for marfan syndrome presents phenotypic variability associated with the genetic background and overall levels of Fbn1 expression

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12 December 2020

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

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12 December 2020

ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts

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12 December 2020

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

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12 December 2020

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

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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

ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis

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12 December 2020

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

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12 December 2020

Microenvironmental regulation by fibrillin-1

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12 December 2020

Matrix-dependent perturbation of TGFβ signaling and disease

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12 December 2020

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

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12 December 2020

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

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12 December 2020

From tall to short: the role of TGFβ signaling in growth and its disorders

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12 December 2020

A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module

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12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

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12 December 2020

Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation

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12 December 2020

Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma

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12 December 2020

Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis

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12 December 2020

Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome.

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12 December 2020

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?

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12 December 2020

The revised ghent nosology; reclassifying isolated ectopia lentis.

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12 December 2020

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

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12 December 2020

Cell biology. Dysfunctional mechanosensing in aneurysms

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12 December 2020

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

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12 December 2020

Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

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12 December 2020

Connective tissue microfibrils. Isolation and characterization of three large pepsin-resistant domains of fibrillin.

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12 December 2020

Atenolol versus losartan in children and young adults with Marfan's syndrome

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12 December 2020

Dimorphic effects of transforming growth factor-β signaling during aortic aneurysm progression in mice suggest a combinatorial therapy for Marfan syndrome

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12 December 2020

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients

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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

Structure of bone morphogenetic protein 9 procomplex

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12 December 2020

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

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12 December 2020

Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections

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12 December 2020

Marfan Sartan: a randomized, double-blind, placebo-controlled trial.

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12 December 2020

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy

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12 December 2020

Abnormal Activation of BMP Signaling Causes Myopathy in Fbn2 Null Mice

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12 December 2020

Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections

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12 December 2020

Extracellular matrix, cell skeletons, and embryonic development

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12 December 2020

The major antigen of elastin-associated microfibrils is a 31-kDa glycoprotein

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12 December 2020

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

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12 December 2020

Parental age effects on the occurrence of new mutations for the Marfan syndrome

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12 December 2020

The elastic fiber. I. The separation and partial characterization of its macromolecular components

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12 December 2020

Dual role for the latent transforming growth factor-beta binding protein in storage of latent TGF-beta in the extracellular matrix and as a structural matrix protein.

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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

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

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12 December 2020

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

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12 December 2020

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

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12 December 2020

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

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12 December 2020

Fibrillin-1: organization in microfibrils and structural properties

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12 December 2020

Association of the small latent transforming growth factor-beta with an eight cysteine repeat of its binding protein LTBP-1

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12 December 2020

Fibrillin-1 and fibulin-2 interact and are colocalized in some tissues

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12 December 2020

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation

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12 December 2020

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome

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12 December 2020

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

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12 December 2020

Identification and characterization of an eight-cysteine repeat of the latent transforming growth factor-beta binding protein-1 that mediates bonding to the latent transforming growth factor-beta1.

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12 December 2020

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

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12 December 2020

10.1016/J.GENE.2016.07.033

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DOI

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7 September 2017

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