Affinage

FBN1

Fibrillin-1 · UniProt P35555

Length
2871 aa
Mass
312.3 kDa
Annotated
2026-06-09
100 papers in source corpus 20 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

FBN1 encodes fibrillin-1, a large secreted extracellular matrix glycoprotein that self-assembles into 10–14 nm microfibrils present in all connective tissues, providing structural scaffolding and resisting mechanical deformation (PMID:8541880, PMID:27437668, PMID:25798732). Each monomer is built largely from calcium-binding EGF-like motifs together with TGF-β binding protein-like domains, and isolated monomers polymerize in vitro into 'beads-on-a-string' microfibril-like structures (PMID:8541880); the protein is broadly expressed in non-elastic as well as elastic connective tissues, indicating microfibril roles beyond elastogenesis (PMID:7829516). Fibrillin-1 serves a dual function: as a structural network component and as a regulator of TGF-β/BMP growth factor signaling, and mutations in different regions of FBN1 produce opposing skeletal phenotypes (overgrowth in Marfan syndrome versus short stature/brachydactyly in acromelic dysplasias), reflecting tissue-specific imbalance between these structural and signaling roles (PMID:27437668). Mutation class determines disease severity and mechanism: dominant-negative cysteine-altering missense changes predispose to ectopia lentis, while haploinsufficiency-type premature termination codon mutations associate with more severe skeletal phenotypes, aortic dissection, sparser elastic fibers, and disorganized smooth muscle in the aortic wall (PMID:17701892, PMID:31830381). A substantial fraction of FBN1 disease alleles, including apparent missense and deep intronic variants, act through aberrant pre-mRNA splicing rather than simple coding change (PMID:21895641, PMID:31185693, PMID:35067677, PMID:24668922). The penultimate exons 65–66 of FBN1 encode asprosin, released from profibrillin-1 by furin cleavage; asprosin acts as a glucogenic/orexigenic hormone driving hepatic glucose release and appetite via cAMP signaling through the receptor OR4M1 (PMID:35707591). FBN1 levels are further controlled post-translationally by FBXO2-mediated ubiquitin-proteasomal degradation (PMID:32984335), transcriptionally downstream of Nrf2 (PMID:37365714), and post-transcriptionally by miR-133b and miR-152-3p (PMID:28582847, PMID:38206528).

Mechanistic history

Synthesis pass · year-by-year structured walk · 9 steps
  1. 1991 High

    Establishing the chromosomal location of FBN1 was the prerequisite for linking the gene to heritable connective tissue disease.

    Evidence FISH and isotopic in situ hybridization with fibrillin cDNA probes localizing the gene to 15q21.1

    PMID:1769651

    Open questions at the time
    • Mapping alone does not establish gene structure or protein function
    • No mutation-phenotype link demonstrated at this stage
  2. 1995 High

    Defining the domain architecture and demonstrating self-assembly answered how fibrillin-1 builds the microfibril and why calcium-binding EGF domains are central.

    Evidence In vitro polymerization with electron microscopy showing microfibril-like beads-on-a-string, plus cDNA cloning and broad embryonic tissue expression survey

    PMID:7829516 PMID:8541880

    Open questions at the time
    • In vitro reconstitution does not capture all accessory factors of in vivo microfibril assembly
    • Growth factor regulatory role not yet demonstrated
  3. 2006 Medium

    Synthesizing patient genotype-phenotype data framed fibrillin-1 as both a structural scaffold and a TGF-β/BMP signaling regulator, explaining opposing fibrillinopathy phenotypes.

    Evidence Review of fibrillinopathy cohorts and structural/molecular studies correlating mutation region with overgrowth vs. short-stature phenotypes

    PMID:27437668

    Open questions at the time
    • Review-level synthesis rather than new experimental data
    • Tissue-specific mechanisms distinguishing structural from signaling defects not resolved
  4. 2007 High

    A large international cohort established that mutation class and domain location predict clinical outcome, operationalizing dominant-negative versus haploinsufficiency mechanisms.

    Evidence Genotype-phenotype correlation across 1,013 probands linking cysteine-altering missense to ectopia lentis and PTC mutations to severe skeletal/cardiovascular outcomes

    PMID:17701892

    Open questions at the time
    • Correlation does not directly demonstrate the molecular consequence of each mutation class
    • Does not resolve relative contribution of structural vs. signaling dysfunction per allele
  5. 2009 Medium

    Characterizing the FBN1 promoter clarified how the gene is transcriptionally controlled in expressing tissues.

    Evidence Promoter-reporter assays and transcription start site mapping in expressing (MG63) vs non-expressing cells, with secretion assays confirming ECM fiber formation

    PMID:19573590

    Open questions at the time
    • Upstream transcription factors driving the promoter not identified here
    • Cell-type specificity of regulation incompletely mapped
  6. 2014 High

    An invertebrate fibrillin-related ZP-domain protein demonstrated a conserved mechanical role for secreted fibrillins in resisting tissue deformation, and splicing analyses revealed non-coding mechanisms of pathogenicity.

    Evidence C. elegans fbn-1 genetic loss-of-function with FRET tension sensor showing epidermal mechanical failure; in vitro splicing assay showing an intronic variant causes exon 35 skipping in neonatal Marfan syndrome

    PMID:24668922 PMID:25798732

    Open questions at the time
    • C. elegans FBN-1 is ZP-domain related, not directly the microfibril-forming vertebrate orthologue
    • Splicing impact on protein function inferred, not directly measured at protein level
  7. 2019 Medium

    Correlating mutation class with aortic wall pathology connected haploinsufficiency-type mutations mechanistically to elastic fiber loss and aortic dissection risk.

    Evidence Sequencing plus histological staining of aortic tissue showing sparser elastic fibers and disorganized smooth muscle in frameshift/nonsense vs missense carriers, with deep intronic variants confirmed to cause aberrant splicing by patient RNA RT-PCR

    PMID:31185693 PMID:31830381

    Open questions at the time
    • Single-center pathology cohort
    • Causal chain from elastic fiber loss to dissection not experimentally dissected
  8. 2022 Medium

    Identifying asprosin as a furin-cleaved C-terminal fragment of profibrillin-1 revealed an endocrine output of the FBN1 locus distinct from its structural role.

    Evidence Synthesis of genetic mapping, furin cleavage biochemistry, and OR4M1/cAMP receptor signaling studies; plus RNA sequencing of urinary cells localizing a deep intronic splicing variant

    PMID:35067677 PMID:35707591

    Open questions at the time
    • Asprosin mechanism synthesized from a review rather than newly tested here
    • How fibrillinopathy mutations affect asprosin output not addressed
  9. 2024 Medium

    Multiple post-transcriptional and post-translational regulators were defined, embedding FBN1 in proliferation, signaling, and tissue-repair contexts beyond classical ECM biology.

    Evidence FBXO2 ubiquitination-proteome substrate identification with KD/OE in endometrial cancer; Nrf2 KO epistasis in osteoblasts; dual-luciferase validation of miR-133b and miR-152-3p targeting with rescue experiments in cancer and diabetic wound models; BMP15-FBN1 cumulus cell axis

    PMID:23942191 PMID:28582847 PMID:32984335 PMID:37365714 PMID:38206528

    Open questions at the time
    • Each regulatory relationship rests on a single lab/model system
    • Whether these regulatory axes operate in the connective tissues affected by Marfan syndrome is untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How distinct FBN1 mutation classes quantitatively partition damage between microfibril structural integrity, TGF-β/BMP signaling, and asprosin endocrine output to produce divergent fibrillinopathy phenotypes remains unresolved.
  • No unified model linking allele type to structural vs signaling vs endocrine outcome
  • Tissue-specific regulator contributions not integrated with disease mechanism

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3
Localization
GO:0031012 extracellular matrix 3 GO:0005576 extracellular region 2
Pathway
R-HSA-1474244 Extracellular matrix organization 3 R-HSA-1643685 Disease 2
Partners
FBXO2FURINOR4M1
Complex memberships
microfibril

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1991 The FBN1 gene encoding fibrillin-1 was mapped to chromosome 15, band q21.1, by fluorescence in situ hybridization and isotopic in situ hybridization using fibrillin cDNA-derived probes. Fluorescence in situ hybridization (FISH) and isotopic in situ hybridization Genomics High 1769651
1995 Fibrillin-1 monomers contain a large number of epidermal growth factor-like (EGF-like) motifs, most capable of binding calcium ions, and motifs resembling the TGF-β binding protein; in vitro polymerization of fibrillin-1 monomers produces 'beads on a string' structures resembling microfibrils purified from extracellular matrices. In vitro polymerization assay, electron microscopy Human molecular genetics High 8541880
1995 The mouse fibrillin-1 transcript encodes a 2,871 amino acid polypeptide with a signal peptide and Kozak consensus ATG, and is expressed broadly in embryonic mouse tissues including non-elastic connective tissues, suggesting functions for fibrillin-associated microfibrils beyond elastogenesis. cDNA cloning, sequence analysis, tissue expression survey by in situ/Northern hybridization The Journal of biological chemistry Medium 7829516
2007 Missense mutations substituting or producing cysteine residues in FBN1 are associated with higher probability of ectopia lentis; premature termination codon mutations are associated with more severe skeletal and skin phenotypes than in-frame mutations; mutations in exons 24–32 are associated with younger age at diagnosis, higher probability of ectopia lentis, ascending aortic dilatation, aortic surgery, mitral valve abnormalities, and shorter survival — consistent with dominant-negative versus haploinsufficiency mechanisms and differential effects on structural vs. TGF-β signaling functions of fibrillin-1. Genotype-phenotype correlation analysis of 1,013 probands with pathogenic FBN1 mutations from an international database American journal of human genetics High 17701892
2006 FBN1 encodes a structural macromolecule, fibrillin-1, that polymerizes into microfibrils present in all connective tissues; mutations in specific FBN1 regions can produce opposing phenotypes (tall stature/arachnodactyly in Marfan syndrome vs. short stature/brachydactyly in Weill-Marchesani syndrome/acromelic dysplasias), implicating both structural microfibril network function and growth factor (TGF-β/BMP) signaling regulation as distinct tissue-specific mechanisms. Review of genotype-phenotype data from fibrillinopathy patient cohorts and molecular/structural studies Gene Medium 27437668
2013 BMP15 regulates FBN1 expression in porcine cumulus cells; silencing FBN1 with siRNA after BMP15 treatment increased cumulus cell proliferation and prevented apoptosis, indicating FBN1 acts downstream of BMP15 to promote apoptosis (or limit proliferation) in porcine ovarian cumulus cells. siRNA knockdown (RNAi), flow cytometry (apoptosis), MTT assay, RT-qPCR, Western blot Cellular physiology and biochemistry Medium 23942191
2016 FBN1 mRNA is expressed during early mesenchymal stem cell differentiation and declines as cells commit to the adipogenic lineage; FBN1 expression correlates with body fat variation in inbred mouse strains and is upregulated in adipose tissue of obese women with enlarged adipocytes, supporting a role for fibrillin-1 in the mesenchymal-to-adipocyte transition. Mouse strain correlation analysis, gene expression profiling (microarray/qPCR), human adipose tissue analysis, cell culture differentiation assay Molecular genetics and metabolism Medium 27386756
2009 The FBN1 gene is transcribed primarily from a single CpG-rich promoter conserved in mammals, lacking TATA and CCAAT boxes; reporter assays showed the conserved promoter region is more active in FBN1-expressing (MG63) than non-expressing cell lines, and fibrillin-1 protein is secreted to form extracellular matrix fibers. Promoter reporter assays, transcription start site mapping, Western blot, cell fractionation/secretion assays Genomics Medium 19573590
2018 FBXO2 acts as an E3 ubiquitin ligase that targets FBN1 for ubiquitin-dependent proteasomal degradation in endometrial cancer cells, identified via a ubiquitination-proteome approach; FBXO2 knockdown inhibited EC cell proliferation while overexpression promoted it, with FBN1 as the substrate. Ubiquitination-proteome approach (mass spectrometry), co-immunoprecipitation, Western blot, siRNA knockdown, overexpression, in vivo xenograft Frontiers in cell and developmental biology Medium 32984335
2022 Asprosin, a glucogenic and orexigenic protein hormone, is encoded by the penultimate two exons (65 and 66) of FBN1; profibrillin-1 undergoes proteolytic cleavage by furin to produce mature fibrillin-1 and asprosin; asprosin promotes hepatic glucose release and appetite stimulation through activation of cAMP signaling via its G protein-coupled receptor OR4M1. Genetic mapping, biochemical cleavage assay, receptor binding/signaling studies (cAMP pathway) — synthesized from discovery literature Molecular syndromology Medium 35707591
2019 FBN1 frameshift and nonsense mutations (haploinsufficiency-type) are more frequent in Marfan syndrome patients with aortic dissection compared to aortic aneurysm; pathological staining showed sparser elastic fibers and more disorganized smooth muscle cells in patients with frameshift/nonsense vs. missense mutations, suggesting mutation class determines structural integrity of the aortic wall. DNA sequencing, genotype-phenotype correlation, histological staining of aortic wall tissue (elastic fiber and smooth muscle staining) Molecular genetics & genomic medicine Medium 31830381
2018 A FBN1 3'UTR mutation in Marfan syndrome patients was associated with endoplasmic reticulum (ER) stress response in the non-dilated aortic zone, evidenced by upregulation of ER stress markers (MANF, HSPA5/BiP, CHOP, sXBP1) and decreased phosphorylation of the translation regulator eIF2α in vascular smooth muscle cells derived from MFS patients. mRNA sequencing of patient-derived vascular smooth muscle cells, RT-qPCR, Western blot (BiP/GRP78, CHOP, sXBP1, p-eIF2α) Biochimica et biophysica acta. Molecular basis of disease Medium 30385411
2011 Some apparent FBN1 missense mutations affect pre-mRNA splicing rather than (or in addition to) protein sequence; direct RNA analysis of patient samples identified 2 of 36 missense base changes that caused splicing abnormalities detectable by RT-PCR, while in silico splice prediction alone was insufficient to reliably identify these changes. RT-PCR, cDNA sequencing, in silico splice site prediction with five different programs Clinical genetics Medium 21895641
2019 Two deep intronic FBN1 variants (c.6872-24T>A and c.7571-12T>A) cause aberrant splicing by introducing intronic nucleotide retention and premature stop codons, demonstrated by RT-PCR of patient mRNA. In silico splice analysis, RT-PCR on patient RNA, Sanger sequencing of aberrant transcripts Genes Medium 31185693
2022 A deep intronic FBN1 variant (c.5789-15G>A in intron 47) causes allelic imbalance, intron 47 retention, and generation of aberrant transcripts with new splice acceptor sites within exon 48, identified by genome sequencing and RNA sequencing of urinary cells (which express FBN1 at high levels unlike peripheral blood). Genome sequencing, RNA sequencing of urinary cells, RT-PCR validation Journal of human genetics Medium 35067677
2014 In C. elegans, FBN-1, a ZP domain protein related to vertebrate fibrillins, is required specifically within the epidermis (where it is expressed and secreted to the apical surface) to resist mechanical deformation caused by pharyngeal pulling forces and actomyosin-based circumferential constricting forces during embryogenesis; loss of fbn-1 results in mechanical deformation of the epidermis, as measured by a FRET-based tension sensor. Genetic loss-of-function, FRET-based tension sensor, tissue-specific expression analysis, live imaging, fractionation/secretion assay eLife High 25798732
2014 An intronic FBN1 mutation (c.4211-32_-13del) outside the canonical exons 24–32 causes exon 35 skipping (deletion of 42 amino acids, p.Leu1405_Asp1446del), demonstrated by in vitro splicing analysis, and leads to neonatal Marfan syndrome. Molecular genetic sequencing, in vitro splicing assay (minigene or patient RNA-based RT-PCR) American journal of medical genetics. Part A Medium 24668922
2023 Nrf2 transcriptionally upregulates Fbn1 in osteoblast-lineage cells; PQQ-induced Nrf2 activation increased Fbn1 expression, which reduced RANKL production in osteoblast-lineage cells and decreased osteoclast activation; Nrf2 knockout blunted these effects, placing Fbn1 downstream of the Nrf2-antioxidant response element pathway in bone. Nrf2 knockout mouse, PQQ supplementation, molecular docking, pharmacological screening, Western blot, RT-qPCR, bone histomorphometry Aging cell Medium 37365714
2017 miR-133b directly targets FBN1 mRNA (confirmed by dual luciferase reporter assay); miR-133b overexpression upregulates FBN1 protein in gastric cancer cells, and silencing FBN1 inhibits proliferation, migration and invasion, while downregulating β-catenin, N-cadherin, and Wnt1 of the Wnt/β-catenin pathway. Dual luciferase reporter assay, siRNA knockdown, miRNA overexpression, CCK-8, colony formation, wound healing, Transwell assay, Western blot Cancer biomarkers Medium 28582847
2024 miR-152-3p directly targets FBN1 mRNA; curcumin inhibits miR-152-3p, thereby restoring FBN1 expression and activating the FBN1/TGF-β signaling pathway, which inhibits fibroblast apoptosis, promotes proliferation, migration, and angiogenesis, and accelerates diabetic foot ulcer wound healing in rats; overexpression of FBN1 reversed the inhibitory effects of miR-152-3p mimic. DFU rat model, high-glucose cell model, Western blot, RT-qPCR, flow cytometry, Transwell, wound healing assay, H&E staining, miRNA mimic/overexpression Molecular biotechnology Medium 38206528

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 430 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 266 15708976
2016 FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene 263 27437668
2000 Mass spectrometry. From genomics to proteomics. Trends in genetics : TIG 261 10637622
2003 Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Human mutation 259 12938084
2002 Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human mutation 154 12203987
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 122 22803610
2014 Boundaries of mass resolution in native mass spectrometry. Journal of the American Society for Mass Spectrometry 115 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
2017 Plasticity of the MFS1 Promoter Leads to Multidrug Resistance in the Wheat Pathogen Zymoseptoria tritici. mSphere 67 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 58 25798732
1995 Ecdysone regulation of the Drosophila Sgs-4 gene is mediated by the synergistic action of ecdysone receptor and SEBP 3. The EMBO journal 54 7882975
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
2020 Pathogenic FBN1 Genetic Variation and Aortic Dissection in Patients With Marfan Syndrome. Journal of the American College of Cardiology 49 32130918
2015 Detection of SNCA and FBN1 methylation in the stool as a biomarker for colorectal cancer. Disease markers 48 25802477
2008 FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Clinical genetics 47 18435798
1986 Cis-acting sequences which regulate expression of the Sgs-4 glue protein gene of Drosophila. The EMBO journal 46 2430796
2014 Metabolomic profiling reveals severe skeletal muscle group-specific perturbations of metabolism in aged FBN rats. Biogerontology 43 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
1985 Transformation of salivary gland secretion protein gene Sgs-4 in Drosophila: stage- and tissue-specific regulation, dosage compensation, and position effect. Proceedings of the National Academy of Sciences of the United States of America 41 3927295
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
1997 Two new regulatory elements controlling the Drosophila Sgs-3 gene are potential ecdysone receptor and fork head binding sites. Mechanisms of development 36 9106163
1981 Genetic analysis of the larval secretion gene Sgs-4 and its regulatory chromosome sites in Drosophila melanogaster. Chromosoma 36 6799262
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
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 35 25656438
1995 Primary structure and developmental expression of Fbn-1, the mouse fibrillin gene. The Journal of biological chemistry 34 7829516
2019 Increased frequency of FBN1 frameshift and nonsense mutations in Marfan syndrome patients with aortic dissection. Molecular genetics & genomic medicine 33 31830381
2016 Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. Journal of medical genetics 33 27582083
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
2022 The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2. Human mutation 32 35419902
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
2023 Pyrroloquinoline quinone alleviates natural aging-related osteoporosis via a novel MCM3-Keap1-Nrf2 axis-mediated stress response and Fbn1 upregulation. Aging cell 31 37365714
1990 Two puff-specific proteins bind within the 2.5 kb upstream region of the Drosophila melanogaster Sgs-4 gene. Chromosoma 31 2160364
1988 Evolution and expression of the Sgs-3 glue gene of Drosophila. Journal of molecular biology 31 3138416
1999 The neck mass. The Medical clinics of North America 30 9927971
2009 Sod2 overexpression preserves myoblast mitochondrial mass and function, but not muscle mass with aging. Aging cell 29 19627269
2020 FBXO2 Promotes Proliferation of Endometrial Cancer by Ubiquitin-Mediated Degradation of FBN1 in the Regulation of the Cell Cycle and the Autophagy Pathway. Frontiers in cell and developmental biology 28 32984335
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
2021 A pancancer overview of FBN1, asprosin and its cognate receptor OR4M1 with detailed expression profiling in ovarian cancer. Oncology letters 27 34386072
2017 FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection. Human molecular genetics 27 28973303
1999 The helix-loop-helix proteins dAP-4 and daughterless bind both in vitro and in vivo to SEBP3 sites required for transcriptional activation of the Drosophila gene Sgs-4. Journal of molecular biology 25 10438607
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
1987 Upstream sequences of dosage-compensated and non-compensated alleles of the larval secretion protein gene Sgs-4 in Drosophila. Chromosoma 25 3125018
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
1999 Structure and regulation of the salivary gland secretion protein gene Sgs-1 of Drosophila melanogaster. Genetics 24 10511555
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
2006 Dissection of the bacteriophage Mu strong gyrase site (SGS): significance of the SGS right arm in Mu biology and DNA gyrase mechanism. Journal of bacteriology 23 16385052
2024 Curcumin Promotes Diabetic Foot Ulcer Wound Healing by Inhibiting miR-152-3p and Activating the FBN1/TGF-β Pathway. Molecular biotechnology 22 38206528
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
2022 Polymeric dipicolylamine based mass tags for mass cytometry. Chemical science 21 35414868
2021 Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 21 33495528
1987 Regulatory sequences of the Sgs-4 gene of Drosophila melanogaster analysed by P element-mediated transformation. Chromosoma 21 2830087
1987 Closely linked DNA elements control the expression of the Sgs-5 glue protein gene in Drosophila. Genes & development 21 3123322
2022 Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease. Molecular syndromology 20 35707591
2009 Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1. Genomics 20 19573590
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
1991 cis-acting sequences required for expression of the divergently transcribed Drosophila melanogaster Sgs-7 and Sgs-8 glue protein genes. Molecular and cellular biology 19 1903838
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
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
2019 Characterization of Two Novel Intronic Variants Affecting Splicing in FBN1-Related Disorders. Genes 17 31185693
2014 Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome. American journal of medical genetics. Part A 17 24668922
2012 FBN1 gene mutation characteristics and clinical features for the prediction of mitral valve disease progression. International journal of cardiology 17 23176764
1995 Detection by PCR and analysis of the distribution of a fibronectin-binding protein gene (fbn) among staphylococcal isolates. Journal of medical microbiology 17 7869354
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
2022 Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing. Journal of human genetics 15 35067677
2022 Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. Journal of medical genetics 15 36411030
2020 FBN1 promotes DLBCL cell migration by activating the Wnt/β-catenin signaling pathway and regulating TIMP1. American journal of translational research 15 33312371
1990 Noncoordinate expression of Drosophila glue genes: Sgs-4 is expressed at many stages and in two different tissues. Developmental biology 15 1695584
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
2024 Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel. Genome medicine 13 39741318
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

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