Affinage

FBN1

Fibrillin-1 · UniProt P35555

Length
2871 aa
Mass
312.3 kDa
Annotated
2026-04-28
100 papers in source corpus 19 papers cited in narrative 18 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

FBN1 encodes profibrillin-1, a large extracellular matrix glycoprotein that polymerizes into 10–14 nm microfibrils serving as the structural scaffold for elastic fiber assembly and as a critical regulator of TGF-β/BMP growth factor bioavailability (PMID:8541880, PMID:17701892). Profibrillin-1 undergoes furin-mediated proteolytic cleavage to yield mature fibrillin-1 and asprosin, a C-terminal glucogenic and orexigenic hormone that signals through the OR4M1 receptor via cAMP (PMID:7738200, PMID:35419902). Heterozygous FBN1 mutations cause Marfan syndrome and related fibrillinopathies through either dominant-negative disruption of microfibril assembly (in-frame mutations) or haploinsufficiency (premature termination codons), with mutations in exons 24–32 producing the most severe cardiovascular, ocular, and skeletal phenotypes (PMID:17701892, PMID:7915876, PMID:11710961). Fibrillin-1 is preferentially expressed in mesenchymal lineages, where it maintains the undifferentiated state and declines during adipogenic commitment (PMID:27386756, PMID:19573590).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1991 High

    Establishing the chromosomal position of FBN1 at 15q21.1 provided the foundation for linking it to Marfan syndrome through genetic linkage.

    Evidence FISH and isotopic in situ hybridization on human chromosomes

    PMID:1769651

    Open questions at the time
    • No functional characterization of the gene product at this stage
    • Linkage to disease locus not yet formally demonstrated in this study
  2. 1994 Medium

    Demonstration that Marfan syndrome patients can express <5% of normal FBN1 transcript from one allele established haploinsufficiency as a pathogenic mechanism, resolving whether disease required a mutant protein or simply reduced dosage.

    Evidence Allele-specific mRNA quantification using 3′ UTR polymorphism in patient fibroblasts

    PMID:7915876

    Open questions at the time
    • Only three of five patients showed null-allele expression; mechanism in the remaining two was unresolved
    • Did not directly measure fibrillin-1 protein or microfibril assembly
  3. 1995 High

    In vitro reconstitution of fibrillin-1 polymerization into beads-on-a-string microfibrils proved that monomeric fibrillin-1 is sufficient for higher-order assembly and defined the calcium-binding EGF-like and TB domain architecture essential for this process.

    Evidence In vitro polymerization assay with rotary-shadowing electron microscopy and domain analysis

    PMID:8541880

    Open questions at the time
    • Assembly factors or chaperones required in vivo were not identified
    • The role of cell-surface nucleation sites was not addressed
  4. 1995 High

    Identification of a missense mutation (R2726W) near the furin cleavage site showed that profibrillin-to-fibrillin processing is required for efficient extracellular deposition, establishing proteolytic maturation as a regulated step in microfibril biogenesis.

    Evidence Pulse-chase metabolic labeling and EM of microfibrils from patient fibroblasts carrying the R2726W mutation

    PMID:7738200

    Open questions at the time
    • The protease responsible for cleavage was inferred but not directly identified in this study
    • Whether processing defects contribute to disease independently of assembly defects was unclear
  5. 2001 High

    Demonstration that in-frame deletions produce stable mutant mRNA yet dramatically reduce matrix deposition established dominant-negative interference as a distinct mechanism from haploinsufficiency, resolving a central debate about FBN1 pathogenesis.

    Evidence Pulse-chase studies and allele-specific transcript analysis in fibroblasts from patients with multi-exon in-frame FBN1 deletions

    PMID:11710961

    Open questions at the time
    • The stoichiometry of mutant-to-wild-type fibrillin required for dominant-negative effect was not defined
    • Whether all in-frame mutations act dominant-negatively or some are benign was unresolved
  6. 2007 High

    A 1,013-proband genotype–phenotype study showed that exon 24–32 mutations produce the most severe fibrillinopathy, cysteine-substituting mutations cause ectopia lentis, and premature termination codons produce distinct skeletal/skin features — demonstrating mutation-type- and location-dependent pathogenic mechanisms with implications for TGF-β signaling dysregulation.

    Evidence International multi-center genotype–phenotype correlation analysis using the UMD-FBN1 database

    PMID:17701892

    Open questions at the time
    • TGF-β signaling dysregulation was inferred from phenotypic correlation, not measured directly
    • Functional validation of individual mutations within exons 24–32 was not performed
  7. 2009 Medium

    Characterization of the FBN1 promoter as a single CpG-rich element with mesenchyme-specific transcription factor binding sites explained the tissue-restricted expression pattern, with ~1000-fold higher expression in mesenchymal versus non-mesenchymal cells.

    Evidence Transcription start site mapping, reporter assays in MG63/HEK293/MCF7 cell lines, western blot

    PMID:19573590

    Open questions at the time
    • In vivo enhancer elements and chromatin regulation were not explored
    • Transcription factors directly driving mesenchymal expression were not functionally validated
  8. 2011 Medium

    Direct RNA analysis revealed that apparent FBN1 missense mutations can act through aberrant pre-mRNA splicing rather than amino acid substitution, redefining the pathogenic mechanism for a subset of mutations.

    Evidence RT-PCR and cDNA sequencing from patient blood RNA for 36 missense variants

    PMID:21895641

    Open questions at the time
    • Only 2 of 36 variants caused detectable splicing defects; the prevalence of RNA-level effects across all FBN1 missense variants remains unknown
    • Functional minigene confirmation was not performed for all tested variants
  9. 2016 Medium

    Demonstration that fibrillin-1 expression declines during adipogenic differentiation of human mesenchymal stem cells expanded its functional role beyond structural scaffolding to regulation of mesenchymal cell fate decisions.

    Evidence Differentiation of human mesenchymal stem cells to adipocytes with FBN1 mRNA/protein expression profiling and FANTOM5 analysis

    PMID:27386756

    Open questions at the time
    • Whether fibrillin-1 loss is causative or merely correlative with adipogenic commitment was not established
    • The signaling pathway (e.g., TGF-β, BMP) mediating this effect was not identified
  10. 2016 Medium

    Analysis of acromelic dysplasia mutations in fibrillin-1 TB/8-cysteine domains revealed that altered microfibril architecture can perturb BMP bioavailability in a tissue-specific manner, producing phenotypes opposite to Marfan syndrome and establishing fibrillin-1 as a bidirectional growth factor regulator.

    Evidence Structural domain analysis integrating mutational spectrum data across fibrillinopathies

    PMID:27437668

    Open questions at the time
    • Direct measurement of BMP bioavailability in acromelic dysplasia tissue was not performed
    • The structural basis for domain-specific growth factor sequestration was not resolved at atomic resolution
  11. 2018 Medium

    Identification of ER stress activation in vascular smooth muscle cells from Marfan patients carrying a FBN1 3′UTR mutation revealed a cell-autonomous pathogenic pathway beyond defective microfibril assembly.

    Evidence RNA-seq and western blot for ER stress markers (BiP, CHOP, sXBP1) in patient-derived vascular smooth muscle cells

    PMID:30385411

    Open questions at the time
    • Whether ER stress is a general feature of FBN1 mutations or specific to 3′UTR variants was not determined
    • Causal relationship between ER stress and aortic pathology was not established
  12. 2019 Medium

    Functional validation of deep intronic FBN1 variants causing aberrant splicing and premature stop codons expanded the mutational spectrum to non-coding regions, answering whether Marfan patients without exonic mutations could harbor pathogenic intronic variants.

    Evidence Minigene assay and RT-PCR from patient RNA for intronic variants c.6872-24T>A and c.7571-12T>A

    PMID:31185693

    Open questions at the time
    • Systematic screening of deep intronic regions was not performed
    • The fraction of mutation-negative Marfan cases explained by deep intronic variants is unknown
  13. 2021 Medium

    CRISPR-generated fbn1+/- zebrafish recapitulated Marfan-like features (increased length, slender body, cardiac abnormalities), validating haploinsufficiency as sufficient for disease in a non-mammalian vertebrate model.

    Evidence CRISPR/Cas9 heterozygous knockout in zebrafish with morphological and cardiac phenotyping

    PMID:34324266

    Open questions at the time
    • Aortic histopathology and microfibril ultrastructure were not examined
    • TGF-β signaling status was not measured in the zebrafish model
  14. 2022 Medium

    Discovery that profibrillin-1 cleavage produces asprosin, a hormone encoded by FBN1 exons 65–66 that signals through OR4M1/cAMP to drive hepatic glucose release and appetite, revealed a wholly unexpected endocrine function for the FBN1 gene product.

    Evidence Genetic studies in neonatal progeroid syndrome patients, proteolytic processing analysis, OR4M1 receptor binding and cAMP signaling assays

    PMID:35419902 PMID:35707591

    Open questions at the time
    • The physiological regulation of profibrillin cleavage partitioning between structural (fibrillin-1) and hormonal (asprosin) functions is not understood
    • Whether asprosin dysregulation contributes to metabolic features of Marfan syndrome is unexplored

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the structural basis for domain-specific growth factor sequestration at atomic resolution, the contribution of ER stress versus extracellular signaling dysregulation to vascular pathology, the regulation of profibrillin cleavage partitioning between fibrillin-1 and asprosin, and the in vivo assembly factors that nucleate microfibril polymerization.
  • No atomic-resolution structure of full-length fibrillin-1 or microfibril polymer
  • Relative contribution of ER stress versus TGF-β dysregulation to aortopathy not dissected
  • In vivo microfibril nucleation mechanism unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 2 GO:0048018 receptor ligand activity 1
Localization
GO:0031012 extracellular matrix 3 GO:0005576 extracellular region 2
Pathway
R-HSA-162582 Signal Transduction 3 R-HSA-1474244 Extracellular matrix organization 2
Partners
FURINMFAP2OR4M1
Complex memberships
microfibrils (10-14 nm)

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1995 FBN1 encodes fibrillin-1, a large extracellular matrix glycoprotein that polymerizes into 10–14 nm microfibrils; in vitro polymerization of fibrillin monomers produces 'beads on a string' structures resembling native microfibrils, and the protein contains calcium-binding EGF-like motifs and TGF-β binding protein-like motifs. In vitro polymerization assay, electron microscopy, domain analysis of cDNA Human molecular genetics High 8541880
1995 A heterozygous FBN1 missense mutation (R2726W) adjacent to a consensus protease cleavage site disrupts proteolytic processing of profibrillin to fibrillin outside the cell, with only half of secreted profibrillin converted to mature fibrillin and deposited in the extracellular matrix. Pulse-chase metabolic labeling, fibroblast culture, electron microscopy of rotary-shadowed microfibrils, FBN1 gene sequencing The Journal of clinical investigation High 7738200
1991 The FBN1 gene localizes to human chromosome 15q21.1, establishing its chromosomal position. Fluorescence in situ hybridization (FISH) and isotopic in situ hybridization Genomics High 1769651
1994 Three of five Marfan syndrome patients produce less than 5% of normal FBN1 transcript levels from one allele (null-allele phenotype), demonstrating that allelic haploinsufficiency is a molecular mechanism in Marfan syndrome. Allele-specific mRNA quantification using RsaI restriction-site dimorphism in FBN1 3′ UTR in fibroblast cultures American journal of human genetics Medium 7915876
2001 Multi-exon in-frame deletions of FBN1 (exons 42–43 or 44–46) produce stable mutant mRNA but significantly reduce fibrillin synthesis and extracellular matrix deposition, with the exon 44–46 deletion causing normal protein synthesis but strikingly reduced matrix deposition, indicating a dominant-negative interference with microfibril assembly. Long-range RT-PCR, allele-specific transcript analysis, pulse-chase studies in cultured fibroblasts, Southern blot BMC medical genetics High 11710961
2007 FBN1 mutations in exons 24–32 are associated with the most severe phenotype (younger diagnosis, higher probability of ectopia lentis, aortic dilatation, aortic surgery, mitral valve abnormalities, scoliosis, shorter survival), while cysteine-substituting or cysteine-producing missense mutations are associated with higher probability of ectopia lentis, and premature termination codons produce more severe skeletal and skin phenotypes than in-frame mutations — implicating distinct mechanisms (dominant-negative vs. haploinsufficiency) and the dual structural/TGF-β signaling functions of fibrillin-1. Genotype-phenotype correlation study of 1,013 probands with pathogenic FBN1 mutations using international UMD-FBN1 database American journal of human genetics High 17701892
2016 Fibrillin-1 is expressed during early mesenchymal differentiation and declines as human mesenchymal stem cells differentiate to adipocytes; FBN1 mRNA and protein decrease during adipogenesis, suggesting fibrillin-1 functions in maintaining the undifferentiated mesenchymal state and its loss permits adipogenic commitment. Differentiation of human mesenchymal stem cells in culture, gene expression analysis (FBN1 mRNA), FANTOM5 expression profiling, mouse inbred strain variation analysis Molecular genetics and metabolism Medium 27386756
2016 Mutations in specific regions of FBN1 (TB/8-cysteine domains associated with acromelic dysplasias) alter fibrillin microfibril network architecture in a way that perturbs growth factor (e.g., BMP) bioavailability and signaling in tissue-specific contexts, producing phenotypes opposite to Marfan syndrome (short stature/brachydactyly vs. tall stature/arachnodactyly). Review integrating structural domain analysis of fibrillin-1, mutational spectrum analysis, and tissue-specific microfibril microenvironment data Gene Medium 27437668
2018 A FBN1 3′UTR mutation in Marfan syndrome patients is associated with endoplasmic reticulum (ER) stress response in vascular smooth muscle cells from the non-dilated aortic zone, evidenced by increased transcription of ER stress markers (MANF, HSPA5/BiP, SEL1L, DDIT3/CHOP, CRELD2) and elevated protein levels of BiP/GRP78, CHOP, and sXBP1, along with decreased phosphorylation of eIF2α. mRNA sequencing and RT-PCR of vascular smooth muscle cells from MFS patients and controls, western blot for ER stress proteins Biochimica et biophysica acta. Molecular basis of disease Medium 30385411
2022 Asprosin, a C-terminal cleavage product of profibrillin-1 encoded by FBN1 exons 65–66, is produced by furin-mediated proteolytic cleavage of profibrillin-1 and acts as a glucogenic/orexigenic hormone that promotes hepatic glucose release and appetite stimulation through the G protein-coupled receptor OR4M1 via cAMP signaling. Genetic studies in neonatal progeroid syndrome patients, proteolytic processing analysis, receptor binding studies (OR4M1), cAMP signaling assays Molecular syndromology Medium 35419902 35707591
2009 FBN1 transcription initiates primarily from a single CpG-rich, evolutionarily conserved promoter containing binding sites for mesenchyme-differentiation transcription factors; the osteosarcoma cell line MG63 (high FBN1 expression) secretes fibrillin-1 to form extracellular matrix fibres, while non-mesenchymal cell lines (HEK293, MCF7, MDA-MB-231) have ~1000-fold lower FBN1 mRNA and negligible fibrillin-1 protein. Transcription start site mapping in mouse and human tissues, reporter assay in cell lines with differential FBN1 expression, western blot for fibrillin-1 protein Genomics Medium 19573590
2011 Apparent FBN1 missense mutations can alter pre-mRNA splicing; direct RNA analysis of patient samples identified 2 out of 36 different missense base changes that caused splicing abnormalities, demonstrating that some FBN1 mutations act at the RNA level rather than solely through amino acid substitution. RT-PCR, cDNA amplification and sequencing from patient blood RNA, in silico splice site prediction Clinical genetics Medium 21895641
2019 Deep intronic FBN1 variants (c.6872-24T>A and c.7571-12T>A) cause aberrant splicing through retention of intronic nucleotides, leading to premature stop codons, demonstrating that non-exonic FBN1 mutations can be pathogenic through splicing disruption. RT-PCR from patient RNA, minigene assay, in silico splice analysis Genes Medium 31185693
2021 fbn1+/- zebrafish generated by CRISPR/Cas9 display increased body length, slender body shape, decreased pigmentation, and abnormal cardiac blood flow from atrium to ventricle, establishing fibrillin-1 loss-of-function phenotypes in a vertebrate model consistent with Marfan syndrome features. CRISPR/Cas9 gene editing in zebrafish, morphological and cardiac phenotyping Molecular genetics & genomic medicine Medium 34324266
2023 MFAP2 overexpression upregulates FBN1 expression in hepatic stellate cells, and FBN1 acts within the TGF-β/Smad3 signaling pathway to mediate HSC activation and liver fibrosis; silencing MFAP2 attenuates FBN1 expression and reduces fibrogenesis markers. GEO database analysis, siRNA knockdown, overexpression experiments, CCl4-induced liver fibrosis mouse model, western blot Journal of cellular and molecular medicine Low 37635348
2022 Genome sequencing combined with RNA sequencing of urinary cells (which strongly express FBN1) from a Marfan syndrome patient identified an intronic FBN1 variant (c.5789-15G>A) causing intron 47 retention and allelic imbalance (monoallelic expression), confirming that urinary cell RNA is a clinically accessible tissue for detecting FBN1 splicing defects. Genome sequencing, RNA sequencing of urinary cells, RT-PCR confirmation Journal of human genetics Medium 35067677
2022 A splice-site mutation in FBN1 exon 64 (c.8051+1G>C) produces two distinct truncated transcripts simultaneously (entire exon 64 skipping and partial exon 64 exclusion), as demonstrated by minigene assay and RT-PCR. Minigene assay, reverse-transcription PCR, whole exome sequencing, Sanger sequencing Genes Medium 36292727
2013 BMP15 regulates porcine cumulus cell apoptosis through modulation of FBN1 expression; siRNA silencing of FBN1 in cumulus cells after BMP15 treatment increases proliferation and prevents apoptosis, demonstrating that FBN1 mediates pro-apoptotic signals downstream of BMP15 in ovarian follicle cells. Flow cytometry (apoptosis), RNA interference (siRNA), high-throughput sequencing, RT-qPCR, western blot, MTT assay Cellular physiology and biochemistry Medium 23942191

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 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. American journal of human genetics 425 17701892
1995 Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Human molecular genetics 388 8541880
2003 Molecular mechanisms modulating muscle mass. Trends in molecular medicine 319 12928036
2010 Signaling pathways perturbing muscle mass. Current opinion in clinical nutrition and metabolic care 286 20397318
2005 Control of seed mass by APETALA2. Proceedings of the National Academy of Sciences of the United States of America 262 15708976
2016 FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene 259 27437668
2002 Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human mutation 154 12203987
1995 A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. The Journal of clinical investigation 153 7738200
2010 Cardiovascular manifestations in men and women carrying a FBN1 mutation. European heart journal 130 20709720
2012 Functional characterization of the rice SPX-MFS family reveals a key role of OsSPX-MFS1 in controlling phosphate homeostasis in leaves. The New phytologist 121 22803610
2014 Boundaries of mass resolution in native mass spectrometry. Journal of the American Society for Mass Spectrometry 114 24700121
1991 Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1. Genomics 108 1769651
2014 Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Human molecular genetics 98 24833718
2007 The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Human mutation 84 17657824
2009 Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. European journal of human genetics : EJHG 81 19293843
2007 Mass and position determination of attached particles on cantilever based mass sensors. The Review of scientific instruments 73 17979412
2017 Plasticity of the MFS1 Promoter Leads to Multidrug Resistance in the Wheat Pathogen Zymoseptoria tritici. mSphere 66 29085913
2004 Ectopia lentis phenotypes and the FBN1 gene. American journal of medical genetics. Part A 60 15054843
2015 FBN-1, a fibrillin-related protein, is required for resistance of the epidermis to mechanical deformation during C. elegans embryogenesis. eLife 56 25798732
2002 Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. The British journal of ophthalmology 53 12446365
1996 Drosophila Sgs genes: stage and tissue specificity of hormone responsiveness. BioEssays : news and reviews in molecular, cellular and developmental biology 52 8593163
2012 Minireview: The link between fat and bone: does mass beget mass? Endocrinology 50 22467495
2015 Detection of SNCA and FBN1 methylation in the stool as a biomarker for colorectal cancer. Disease markers 48 25802477
2020 Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome. Journal of the American College of Cardiology 47 32130918
2001 Multi-exon deletions of the FBN1 gene in Marfan syndrome. BMC medical genetics 44 11710961
2010 Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. Human mutation 43 20564469
2014 Metabolomic profiling reveals severe skeletal muscle group-specific perturbations of metabolism in aged FBN rats. Biogerontology 42 24652515
2013 BMP15 prevents cumulus cell apoptosis through CCL2 and FBN1 in porcine ovaries. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 42 23942191
2005 Mass-spectrometry DNA sequencing. Mutation research 42 15829234
1986 Sequences sufficient for correct regulation of Sgs-3 lie close to or within the gene. The EMBO journal 41 3028780
2022 Exosomal microRNA-133b-3p from bone marrow mesenchymal stem cells inhibits angiogenesis and oxidative stress via FBN1 repression in diabetic retinopathy. Gene therapy 39 35125496
2013 Mass resolution and mass accuracy: how much is enough? Mass spectrometry (Tokyo, Japan) 39 24349928
1998 Probing viruses with mass spectrometry. Journal of mass spectrometry : JMS 38 9538522
2016 Expression of FBN1 during adipogenesis: Relevance to the lipodystrophy phenotype in Marfan syndrome and related conditions. Molecular genetics and metabolism 36 27386756
2016 Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases. Genetics in medicine : official journal of the American College of Medical Genetics 36 27906200
2011 Members of the salivary gland surface protein (SGS) family are major immunogenic components of mosquito saliva. The Journal of biological chemistry 36 21965675
2002 A recurring FBN1 gene mutation in neonatal Marfan syndrome. Archives of pediatrics & adolescent medicine 36 12413333
2017 MiR-133b inhibits proliferation and invasion of gastric cancer cells by up-regulating FBN1 expression. Cancer biomarkers : section A of Disease markers 35 28582847
2016 Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. Journal of medical genetics 33 27582083
2015 Muscle and Bone Impairment in Children With Marfan Syndrome: Correlation With Age and FBN1 Genotype. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 33 25656438
1998 G protein hyperactivation of the Caenorhabditis elegans adenylyl cyclase SGS-1 induces neuronal degeneration. The EMBO journal 33 9724641
1991 Sgs-3 chromatin structure and trans-activators: developmental and ecdysone induction of a glue enhancer-binding factor, GEBF-I, in Drosophila larvae. Molecular and cellular biology 33 1898764
1988 Functional redundancy in the tissue-specific enhancer of the Drosophila Sgs-4 gene. The EMBO journal 33 3142764
1987 Developmental regulation by an enhancer from the Sgs-4 gene of Drosophila. The EMBO journal 33 16453749
2010 Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome. European journal of human genetics : EJHG 32 20551991
2019 Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection. Molecular genetics & genomic medicine 31 31830381
1990 Two puff-specific proteins bind within the 2.5 kb upstream region of the Drosophila melanogaster Sgs-4 gene. Chromosoma 31 2160364
1999 The neck mass. The Medical clinics of North America 30 9927971
2023 Pyrroloquinoline quinone alleviates natural aging-related osteoporosis via a novel MCM3-Keap1-Nrf2 axis-mediated stress response and Fbn1 upregulation. Aging cell 29 37365714
2022 The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. Human mutation 29 35419902
2009 Sod2 overexpression preserves myoblast mitochondrial mass and function, but not muscle mass with aging. Aging cell 29 19627269
2009 Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. Annals of human genetics 28 19839986
2009 Ultrahigh-mass mass spectrometry of single biomolecules and bioparticles. Annual review of analytical chemistry (Palo Alto, Calif.) 28 20636058
1994 Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome. American journal of human genetics 28 7915876
2021 Circ_PRKDC knockdown promotes skin wound healing by enhancing keratinocyte migration via miR-31/FBN1 axis. Journal of molecular histology 25 34143322
1989 Induction and repression of the Drosophila Sgs-3 glue gene are mediated by distinct sequences in the proximal promoter. The EMBO journal 25 2721493
1986 Drosophila glue gene Sgs-3: sequences required for puffing and transcriptional regulation. Developmental biology 25 2431935
2014 Genetic variants in FBN-1 and risk for thoracic aortic aneurysm and dissection. PloS one 24 24743685
1993 A transcriptional switch between the Pig-1 and Sgs-4 genes of Drosophila melanogaster. Molecular and cellular biology 24 8417325
1984 Larval salivary gland secretion proteins in Drosophila. Identification and characterization of the Sgs-5 structural gene. Journal of molecular biology 24 6439875
2021 Hsa_circ_0004674 promotes osteosarcoma doxorubicin resistance by regulating the miR-342-3p/FBN1 axis. Journal of orthopaedic surgery and research 22 34407841
2016 Fibrillin-1 (FBN-1) a new marker of germ cell neoplasia in situ. BMC cancer 22 27487789
2012 Synthesis and in vitro evaluation of 68Ga-DOTA-4-FBn-TN14003, a novel tracer for the imaging of CXCR4 expression. Bioorganic & medicinal chemistry 22 22264762
2024 Curcumin Promotes Diabetic Foot Ulcer Wound Healing by Inhibiting miR-152-3p and Activating the FBN1/TGF-β Pathway. Molecular biotechnology 21 38206528
1987 Regulatory sequences of the Sgs-4 gene of Drosophila melanogaster analysed by P element-mediated transformation. Chromosoma 21 2830087
2022 Polymeric dipicolylamine based mass tags for mass cytometry. Chemical science 20 35414868
2009 Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. Genomics 20 19573590
2021 Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 19 33495528
2018 Identification of gross deletions in FBN1 gene by MLPA. Human genomics 19 30286810
2017 The nanopore mass spectrometer. The Review of scientific instruments 19 29195372
1990 Cooperative enhancement at the Drosophila Sgs-3 locus. Developmental biology 19 2328832
2021 A potential role of fibrillin-1 (FBN1) mRNA and asprosin in follicular development in water buffalo. Theriogenology 18 34781067
2021 Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation. Genes 18 34828442
2020 Fungicide Sensitivity Shifting of Zymoseptoria tritici in the Finnish-Baltic Region and a Novel Insertion in the MFS1 Promoter. Frontiers in plant science 18 32351520
2018 A FBN1 3'UTR mutation variant is associated with endoplasmic reticulum stress in aortic aneurysm in Marfan syndrome. Biochimica et biophysica acta. Molecular basis of disease 18 30385411
2022 Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease. Molecular syndromology 17 35707591
2019 Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders. Genes 17 31185693
2017 Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome. Clinica chimica acta; international journal of clinical chemistry 17 28842177
2015 Difficulties in diagnosing Marfan syndrome using current FBN1 databases. Genetics in medicine : official journal of the American College of Medical Genetics 16 25812041
2015 Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD. Scientific reports 16 26272055
2013 Beginning to understand the role of sugar carriers in Colletotrichum lindemuthianum: the function of the gene mfs1. Journal of microbiology (Seoul, Korea) 16 23456714
1990 Noncoordinate expression of Drosophila glue genes: Sgs-4 is expressed at many stages and in two different tissues. Developmental biology 15 1695584
1988 Partition of protein (mass) to sister cell pairs at mitosis: a re-evaluation. Journal of cell science 15 3246522
2022 Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of medical genetics 14 36411030
2019 Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience. Clinica chimica acta; international journal of clinical chemistry 14 31730815
2015 Production and secretion of naphthoquinones is mediated by the MFS transporter MFS1 in the entomopathogenic fungus Ophiocordyceps sp. BCC1869. World journal of microbiology & biotechnology 14 26193948
2022 Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. Journal of human genetics 13 35067677
2017 A novel FBN1 mutation causes autosomal dominant Marfan syndrome. Molecular medicine reports 13 28944857
2015 Age-related hypertension and salt sensitivity are associated with unique cortico-medullary distribution of D1R, AT1R, and NADPH-oxidase in FBN rats. Clinical and experimental hypertension (New York, N.Y. : 1993) 13 25562528
2012 Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. Molecular vision 13 22876116
2011 Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities. Clinical genetics 13 21895641
2022 FBN1 Splice-Altering Mutations in Marfan Syndrome: A Case Report and Literature Review. Genes 12 36292727
2019 Establishment and characterization of a novel cell line, NCC-MFS1-C1, derived from a patient with myxofibrosarcoma. Human cell 12 30737712
2016 A FBN1 mutation association with different phenotypes of Marfan syndrome in a Chinese family. Clinica chimica acta; international journal of clinical chemistry 12 27353645
2025 Mass Photometry. Annual review of biophysics 11 40327438
2023 MFAP2 promotes HSCs activation through FBN1/TGF-β/Smad3 pathway. Journal of cellular and molecular medicine 11 37635348
2021 A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency. Journal of child neurology 11 34015244
2021 CRISPR/Cas9 in zebrafish: An attractive model for FBN1 genetic defects in humans. Molecular genetics & genomic medicine 11 34324266
2016 Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome. Clinica chimica acta; international journal of clinical chemistry 11 27234404
2006 Recurrent FBN1 mutation (R62C) in a Chinese family with isolated ectopia lentis. American journal of ophthalmology 11 16765689