Affinage

FLNB

Filamin-B · UniProt O75369

Length
2602 aa
Mass
278.2 kDa
Annotated
2026-06-09
61 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

Filamin B (FLNB) is an actin-binding cytoskeletal protein essential for skeletal joint maintenance, palate formation, and ciliated-tissue development, with its cellular activity centered on organizing the actin cytoskeleton and coupling it to signaling (PMID:17635842, PMID:28175289, PMID:37003352). In chondrocytes FLNB acts antagonistically to filamin A: the two physically interact, and whereas FlnA promotes RhoA activation, FlnB indirectly inhibits the RhoA pathway and restrains actin stress fiber formation and β1-integrin expression (PMID:28175289). FLNB feeds into multiple downstream signaling programs—it modulates β-catenin and MAP kinase signaling through interaction with the MAP3K1/RAC1 complex and SOX9 (PMID:29095481), its abundance is controlled by MTMR7-mediated ubiquitination and proteasomal degradation that in turn tunes β-catenin signaling (PMID:40638605), and it cooperates with TTC26 to bind methylated GLI2 and promote its nuclear import for Sonic hedgehog pathway activation in intervertebral disc cells (PMID:42178579). FLNB also operates upstream of HOX gene transcription during skeletal segmentation (PMID:38463381) and is required for motile cilia function and left-right patterning (PMID:41674076). Beyond its cytoskeletal scaffolding role, an alternative splicing switch of FLNB exon 30—controlled by QKI and RBFOX1—governs epithelial–mesenchymal transition by releasing the FOXC1 transcription factor (PMID:30059005). Disease-causing mutations partition by mechanism: dominant missense/in-frame substitutions clustering in the CH2 actin-binding domain and filamin repeats 13–17 cause gain-of-function skeletal dysplasias (boomerang dysplasia, atelosteogenesis, Larsen syndrome) (PMID:15994868, PMID:16752402, PMID:16801345, PMID:29887954), while recessive loss-of-function alleles cause spondylocarpotarsal synostosis (PMID:17635842), steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction (PMID:42209213), and contribute to scoliosis (PMID:32381728).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2000 Low

    Established the genomic architecture of FLNB and its relationship to the filamin paralogues, providing the structural framework later used to map disease mutations.

    Evidence genomic sequencing and comparative exon-intron mapping of FLNB, FLNA, FLNC

    PMID:11153914

    Open questions at the time
    • structural mapping only, no functional assay
    • no protein-level function established
  2. 2005 Medium

    Showed that skeletal dysplasia mutations target the CH2 actin-binding domain, implicating the actin-binding function of FLNB in skeletogenesis.

    Evidence molecular genetic analysis of boomerang dysplasia patients identifying CH2 substitutions L171R, S235P

    PMID:15994868

    Open questions at the time
    • no direct biochemical assay of altered actin binding
    • mechanism of dominance not addressed
  3. 2006 Medium

    Defined two functional mutation hotspots—the CH2 domain and filamin repeats 13–17—and established that dominant heterozygous missense alleles act via gain-of-function/dominant-negative mechanisms.

    Evidence sequencing and domain mapping across atelosteogenesis and Larsen syndrome probands

    PMID:16752402 PMID:16801345

    Open questions at the time
    • no in vitro biochemical functional assay
    • distinction between gain-of-function and dominant-negative unresolved
  4. 2007 High

    Demonstrated by knockout mouse and patient protein analysis that complete FLNB loss causes spondylocarpotarsal synostosis, establishing FLNB as required for maintenance of intervertebral, carpal and sternal joints.

    Evidence Flnb knockout mouse phenocopy, western blot of SCT patient extracts, skeletal histology/micro-CT

    PMID:17635842

    Open questions at the time
    • molecular basis of joint maintenance not defined
    • no link to downstream signaling at this stage
  5. 2017 Medium

    Defined the antagonistic relationship between FlnA and FlnB in regulating RhoA activity, actin stress fibers and β1-integrin, and linked FLNB to β-catenin/MAPK signaling through MAP3K1/RAC1 in gonadal dysgenesis.

    Evidence reciprocal Co-IP, RhoA activation assays, integrin-substrate spreading, plus WES and TOPFLASH reporter assays in disease variants

    PMID:28175289 PMID:29095481

    Open questions at the time
    • single-lab functional assays
    • direct biochemical mechanism of RhoA inhibition not resolved
  6. 2018 High

    Revealed FLNB as a node in EMT control via QKI/RBFOX1-regulated exon 30 splicing that releases FOXC1, and showed distinct cellular consequences of dysplasia mutations (aggregation/apoptosis vs. impaired migration).

    Evidence RNA-seq, eCLIP, gain/loss-of-function for QKI/RBFOX1; ATDC5 chondrogenic cell mutation comparison

    PMID:29887954 PMID:30059005

    Open questions at the time
    • how the splice variants differ functionally at the protein level not defined
    • mutation cellular phenotypes are correlative with clinical severity
  7. 2020 Medium

    Connected FLNB to primary cilia biology by linking AIS-associated variants to altered conformation, localization, and interaction with TTC26 and OFD1.

    Evidence AIS exome sequencing, burden test, Co-IP and localization studies

    PMID:32381728

    Open questions at the time
    • functional consequence of TTC26/OFD1 interaction not yet mechanistic
    • single-lab Co-IP
  8. 2024 Medium

    Placed FLNB upstream of HOX gene transcription during skeletal segmentation, showing a Larsen mutation downregulates HOXD10 and HOXB2 leading to tarsal fusions.

    Evidence CRISPR-Cas9 G1586R knock-in mouse with micro-CT and HOX in situ hybridization

    PMID:38463381

    Open questions at the time
    • mechanism linking FLNB to HOX transcription unknown
    • single-lab model
  9. 2025 Medium

    Established FLNB as required for palate development and motile cilia/left-right patterning, and identified MTMR7 as the E3-pathway adaptor controlling FLNB ubiquitination and β-catenin signaling.

    Evidence Flnb-null mouse palate analysis with cell-stretch variant assays; Xenopus CRISPR screen with human FLNB rescue; MS/Co-IP/ubiquitination assays for MTMR7

    PMID:37003352 PMID:40638605 PMID:41674076

    Open questions at the time
    • specific ubiquitin ligase mediating MTMR7-dependent degradation not identified
    • single-lab studies across distinct contexts
  10. 2026 Medium

    Defined a ciliary FLNB–TTC26 mechanism shuttling methylated GLI2 into the nucleus for Shh activation, and established biallelic FLNB loss as a cause of steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction.

    Evidence double heterozygous Flnb/Ttc26 mouse with binding and cilium localization assays; podocyte shRNA knockdown, zebrafish knockdown, patient variant transfection

    PMID:42178579 PMID:42209213

    Open questions at the time
    • structural basis of FLNB binding to methylated GLI2 not resolved
    • single-lab models for each disease context

Open questions

Synthesis pass · forward-looking unresolved questions
  • How FLNB's distinct molecular activities—actin crosslinking, signaling scaffolding (RhoA/β-catenin/MAPK), ciliary GLI2 transport, and splice-isoform-dependent EMT control—are coordinated within a single tissue context remains unresolved.
  • no unified structural/mechanistic model integrating cytoskeletal and signaling roles
  • tissue-specific determinants of which FLNB function dominates are unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 2
Localization
GO:0005856 cytoskeleton 2 GO:0005929 cilium 2 GO:0005829 cytosol 1
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-162582 Signal Transduction 3 R-HSA-74160 Gene expression (Transcription) 2
Partners
FLNAGLI2MAP3K1MTMR7OFD1RAC1RHOATTC26

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2007 Flnb-knockout mice phenocopy spondylocarpotarsal synostosis syndrome (SCT), exhibiting progressive vertebral fusions, carpal and sternal joint fusions. Protein extracts from SCT patients with nonsense FLNB mutations lacked filamin B, demonstrating SCT results from complete absence of the protein. The skeletal fusions begin antenatally and are progressive, indicating filamin B is required for maintenance (not initial formation) of intervertebral, carpal and sternal joints. Flnb knockout mouse model; western blot of patient cell extracts; skeletal histology and micro-CT Human molecular genetics High 17635842
2018 The RNA-binding proteins QKI and RBFOX1 coordinately regulate alternative splicing of FLNB exon 30; skipping of exon 30 promotes EMT by releasing the FOXC1 transcription factor. This splicing switch is necessary and sufficient to induce an intermediate mesenchymal cell state and increased tumorigenicity in breast cancer cells. RNA-seq, eCLIP analysis, gain/loss-of-function experiments with QKI and RBFOX1, genome-scale expression screen for EMT inducers eLife High 30059005
2017 FlnA and FlnB physically interact in the cytoplasm of chondrocytes. FlnB loss promotes actin stress fiber formation and enhanced cell spreading on integrin-activating substrates, whereas FlnA inhibition decreases actin formation. FlnA more strongly binds RhoA and promotes RhoA activation, while FlnB indirectly inhibits the RhoA pathway. FlnB loss promotes β1-integrin expression, while FlnA loss diminishes it. FlnA and FlnB have antagonistic roles in regulating RhoA activity and actin stress fiber remodeling. Co-immunoprecipitation of FlnA/FlnB; RhoA activation assays; loss-of-function with integrin substrates; immunofluorescence of actin and RhoA Human molecular genetics Medium 28175289
2005 Mutations in FLNB cause boomerang dysplasia. The causative substitutions L171R and S235P lie within the calponin homology 2 (CH2) region of the actin-binding domain of filamin B at evolutionarily conserved sites, defining the actin-binding domain as critical for FLNB function in skeletogenesis. Molecular genetic analysis; sequencing; identification of mutation clustering in CH2 actin-binding domain Journal of medical genetics Medium 15994868
2006 Mutations causing atelosteogenesis I and III cluster in two regions of FLNB: the CH2 domain of the actin-binding region (exons 2–3) and filamin repeats 14–15 (exons 28–29). This non-random mutation distribution identifies these two structural domains as functionally critical for FLNB's role in skeletogenesis. Sequencing of 15 unrelated AOI/AOIII patients; mapping of mutations to FLNB protein domains Human mutation Medium 16752402
2006 Larsen syndrome-causing FLNB mutations cluster in the actin-binding domain (CH2 region) and filamin repeats 13–17, defining these as functional hotspots. All affected individuals are heterozygous for missense or small in-frame deletions, consistent with a dominant gain-of-function or dominant-negative mechanism. DHPLC, direct sequencing, restriction endonuclease digestion across 20 Larsen syndrome probands Journal of medical genetics Medium 16801345
2017 Novel biallelic FLNB mutations (p.F964L, p.A1577V) increase binding of FLNB protein to the MAP3K1 and RAC1 signal transduction complex, activate β-catenin signaling, and affect phosphorylation of MAP kinase pathway intermediates and SOX9 expression, causing 46,XY gonadal dysgenesis alongside skeletal dysplasia. Whole exome sequencing; qPCR; flow variant assays; TOPFLASH reporter assay for β-catenin activity; protein interaction assays Clinical genetics Medium 29095481
2018 BD-associated FLNB mutation L171R causes globular protein aggregation and increased cellular apoptosis in ATDC5 chondrogenic cells, while LS-associated FLNB G1586R causes evenly distributed protein but decreased cellular migration. Both mutations increase Runx2 expression. These differing cellular phenotypes correlate with clinical severity differences between boomerang dysplasia and Larsen syndrome. ATDC5 chondrogenic cell transfection model; immunofluorescence of FLNB localization; apoptosis assay; cell migration assay; Runx2 expression analysis American journal of translational research Medium 29887954
2020 AIS-associated FLNB variants alter protein conformation, subcellular localization, and interaction with TTC26 and OFD1 (proteins involved in primary cilia and AIS). FLNB was identified as the top signal in a gene-based burden test for adolescent idiopathic scoliosis. Exome sequencing of AIS trios; gene-based burden test; functional studies of protein conformation, subcellular localization, and co-immunoprecipitation with TTC26 and OFD1 Journal of medical genetics Medium 32381728
2024 FLNB disruption by a Larsen syndrome-associated point mutation (G1586R, generated by CRISPR-Cas9) causes downregulation of HOXD10 in the carpal region and HOXB2 in the cervical spine region at E12.5, leading to tarsal bone fusions. This places FLNB upstream of HOX gene transcription during skeletal segmentation. CRISPR-Cas9 knock-in mouse model; micro-CT; HE staining; whole skeletal preparation; in situ hybridization for HOX genes in embryos Bone reports Medium 38463381
2023 Loss-of-function FLNB variants (p.P441T, p.G565R) are less potent than wild-type FLNB in inducing cell stretches in mammalian cells. Flnb-null embryos display cleft palates, demonstrating FLNB is required for palate development. Mammalian cell transfection with WT and variant FLNB; cell morphology assay; Flnb knockout mouse embryo analysis; immunohistochemistry of palatal tissues Journal of genetics and genomics Medium 37003352
2025 MTMR7 interacts with FLNB (identified by mass spectrometry and co-immunoprecipitation) and is required for FLNB ubiquitination and subsequent proteasomal degradation. MTMR7-mediated FLNB degradation suppresses β-catenin signaling, thereby inhibiting human spermatogonial stem cell proliferation and migration. Mass spectrometry; co-immunoprecipitation; MTMR7 knockdown/overexpression; ubiquitination assay; immunofluorescence; β-catenin signaling analysis PloS one Medium 40638605
2026 FLNB and TTC26 cooperate to regulate Sonic hedgehog (Shh)-GLI2 signaling in intervertebral disc nucleus pulposus cells. TTC26 localizes PRMT7 to the primary cilium where it methylates GLI2; FLNB then binds methylated GLI2 to promote its nuclear import. Double heterozygous Flnb/Ttc26 mice develop progressive spinal curvature during puberty with reduced collagen II and aggrecan production due to suppressed Shh signaling. Double heterozygous Flnb/Ttc26 mouse model; transcriptomic analysis; protein binding assays; cilium localization studies; Shh pathway rescue in vivo Genome biology Medium 42178579
2026 Biallelic FLNB pathogenic variants cause pediatric steroid-resistant nephrotic syndrome through podocyte cytoskeletal dysfunction. FLNB variants p.L117P and p.M1803L reduce protein expression; p.R470L and p.K2586R induce perinuclear FLNB aggregation with F-actin rearrangement. FLNB silencing in human podocytes downregulates Nephrin and Synaptopodin, disrupts cytoskeletal organization, and impairs cell migration. Zebrafish flnb knockdown causes pericardial edema, defective nephron development, and abnormal podocyte foot processes. shRNA knockdown in immortalized human podocytes; western blot; immunofluorescence of F-actin and FLNB; zebrafish flnb knockdown; patient variant transfection in HEK293T and podocytes Journal of medical genetics Medium 42209213
2025 FLNB disruption in Xenopus (CRISPR/Cas9 screen) causes congenital heart defects and impaired motile cilia function recapitulating heterotaxy phenotypes. Rescue with human FLNB confirmed functional conservation. This implicates FLNB in ciliogenesis and left-right patterning through actin cytoskeletal disruption. High-throughput CRISPR/Cas9 screen in Xenopus; cardiac development assay; motile cilia function assay; human FLNB rescue experiments HGG advances Medium 41674076
2025 FLNB knockdown in human keratinocytes produces a morphoeic phenotype in vitro. FLNB expression is reduced ~4-fold in morphoeic basal cell carcinoma compared to normal eyelids, and a mutational cluster was identified in FLNB filamin domain 24, suggesting FLNB acts as a tumor suppressor in this context. FLNB knockdown in keratinocytes; phenotypic assessment; whole-exome sequencing; RNA sequencing; immunostaining International journal of molecular sciences Low 41373535
2000 FLNB consists of 45 exons spanning ~80 kb of genomic DNA, mapped to chromosome 3p14. Comparative analysis of FLNB, FLNA, and FLNC revealed a highly conserved exon-intron structure with significant differences in the hinge I region encoded by exon 32, establishing the genomic organization of the three filamin paralogues. Genomic sequencing; exon-intron mapping; comparative genomic analysis; chromosomal mapping by genetic markers Human genetics Low 11153914

Source papers

Stage 0 corpus · 61 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling. Cancer cell 500 22014577
2007 The role of the FH1 domain and profilin in formin-mediated actin-filament elongation and nucleation. Current biology : CB 181 18160294
2007 Targeted inactivation of fh1 causes proliferative renal cyst development and activation of the hypoxia pathway. Cancer cell 154 17418408
1997 The Aspergillus nidulans sepA gene encodes an FH1/2 protein involved in cytokinesis and the maintenance of cellular polarity. The EMBO journal 108 9218790
2018 An alternative splicing switch in FLNB promotes the mesenchymal cell state in human breast cancer. eLife 100 30059005
2006 A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Journal of medical genetics 95 16801345
2019 IL-12 signaling drives the differentiation and function of a TH1-derived TFH1-like cell population. Scientific reports 79 31570752
2005 A comparative sequence analysis reveals a common GBD/FH3-FH1-FH2-DAD architecture in formins from Dictyostelium, fungi and metazoa. BMC genomics 66 15740615
2012 Determinants of Formin Homology 1 (FH1) domain function in actin filament elongation by formins. The Journal of biological chemistry 65 22247555
2005 Mutations in FLNB cause boomerang dysplasia. Journal of medical genetics 56 15994868
1999 Identification and characterization of a protein containing formin homology (FH1/FH2) domains. Gene 53 10352228
2007 Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Human molecular genetics 52 17635842
2003 Fhos, a mammalian formin, directly binds to F-actin via a region N-terminal to the FH1 domain and forms a homotypic complex via the FH2 domain to promote actin fiber formation. Journal of cell science 52 14576350
2006 Mutations in two regions of FLNB result in atelosteogenesis I and III. Human mutation 48 16752402
2003 ForC, a novel type of formin family protein lacking an FH1 domain, is involved in multicellular development in Dictyostelium discoideum. Journal of cell science 33 12538772
2017 Opposing FlnA and FlnB interactions regulate RhoA activation in guiding dynamic actin stress fiber formation and cell spreading. Human molecular genetics 31 28175289
2006 Mutations responsible for Larsen syndrome cluster in the FLNB protein. Journal of medical genetics 29 16648377
2000 Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family. Human genetics 28 11153914
2008 Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. Human molecular genetics 24 19039035
2024 Hepatic Klf10-Fh1 axis promotes exercise-mediated amelioration of NASH in mice. Metabolism: clinical and experimental 21 38615945
2017 Clinical Validation of a Serum Protein Panel (FLNA, FLNB and KRT19) for Diagnosis of Prostate Cancer. Journal of molecular biomarkers & diagnosis 17 29682400
2009 Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 17 19453265
2020 Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis. Journal of medical genetics 14 32381728
2017 Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases. Human mutation 14 28639312
2001 Isolation of a new Thermoanaerobacterium thermosaccharolyticum strain (FH1) producing a thermostable dextranase. The Journal of general and applied microbiology 14 12483618
2021 Zn2+-dependent enhancement of Atrazine biodegradation by Klebsiella variicola FH-1. Journal of hazardous materials 13 33858092
2009 Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 11 19727905
1985 Linkage of loci encoding a kidney endothelial antigen and fumarate hydratase (Fh-1) in the rat. Biochemical genetics 11 3910024
2023 Immobilization of bacterial mixture of Klebsiella variicola FH-1 and Arthrobacter sp. NJ-1 enhances the bioremediation of atrazine-polluted soil environments. Frontiers in microbiology 10 36819060
2018 Comparative analysis of the two extremes of FLNB-mutated autosomal dominant disease spectrum: from clinical phenotypes to cellular and molecular findings. American journal of translational research 10 29887954
2019 Synergistic effect of Klebsiella sp. FH-1 and Arthrobacter sp. NJ-1 on the growth of the microbiota in the black soil of Northeast China. Ecotoxicology and environmental safety 9 31841891
2017 Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin. Clinical genetics 8 29095481
1999 The forkhead gene FH1 is involved in evolutionary modification of the ascidian tadpole larva. Mechanisms of development 8 10415346
2021 The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA. The pharmacogenomics journal 7 33649519
2014 Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing. Annals of laboratory medicine 7 24624349
2014 A cooperative jack model of random coil-to-elongation transition of the FH1 domain by profilin binding explains formin motor behavior in actin polymerization. FEBS letters 7 24861497
2022 Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion. Clinical orthopaedics and related research 6 34491919
2021 Functional hit 1 (FH1)-based rapid and efficient generation of functional hepatocytes from human mesenchymal stem cells: a novel strategy for hepatic differentiation. Annals of translational medicine 6 34422999
2018 Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit. American journal of medical genetics. Part A 6 29797497
2013 Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal. BMC genetics 6 24176111
2023 Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts. Journal of genetics and genomics = Yi chuan xue bao 5 37003352
2023 Probing the ligand binding specificity of FNBP4 WW domains and interaction with FH1 domain of FMN1. Current research in structural biology 4 38188541
2024 MYLK*FLNB and DOCK1*LAMA2 gene-gene interactions associated with rheumatoid arthritis in the focal adhesion pathway. Frontiers in genetics 3 38803542
2018 X-ray crystallographic analysis of the catalytic domain of α-1,3-glucanase FH1 from Paenibacillus glycanilyticus overexpressed in Brevibacillus choshinensis. Acta crystallographica. Section F, Structural biology communications 3 30511670
2025 The Quorum Sensing Regulated sRNA Lrs1 Is Involved in the Adaptation to Low Iron in Pseudomonas aeruginosa. Environmental microbiology reports 2 40150866
2025 The Potential Hepatocyte Differentiation Targets and MSC Proliferation by FH1. Journal of cellular and molecular medicine 2 40346964
2025 Fumarate Signaling in Cardiovascular Disease: Therapeutic Potential and Pathologic Pitfalls of DMF/MMF and FH1 Deficiency. Journal of cardiovascular translational research 2 40986231
2022 Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome. Journal of pediatric genetics 2 39086440
2025 MTMR7 regulates human spermatogonial stem cells proliferation and migration via targeting FLNB. PloS one 1 40638605
2025 Patient-informed CRISPR Screen Identifies FLNB as a Novel Congenital Heart Disease and Ciliopathy Gene. bioRxiv : the preprint server for biology 1 41279393
2024 FLNB overexpression promotes tumor progression and associates with immune suppression, evasion and stemness in pancreatic cancer. American journal of cancer research 1 38455418
2024 Disruption of FLNB leads to skeletal malformation by interfering with skeletal segmentation through the HOX gene. Bone reports 1 38463381
2024 A novel variant in the FLNB gene associated with spondylocarpotarsal synostosis syndrome. Journal of basic and clinical physiology and pharmacology 1 38743867
2019 Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree. Cold Spring Harbor molecular case studies 1 31836586
2026 Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene. HGG advances 0 41674076
2026 FLNB and TTC26 regulate ciliary Hedgehog signaling to maintain intervertebral disc matrix homeostasis in adolescent idiopathic scoliosis. Genome biology 0 42178579
2026 Biallelic pathogenic variants in FLNB are associated with paediatric steroid-resistant nephrotic syndrome via podocyte cytoskeletal dysfunction. Journal of medical genetics 0 42209213
2025 Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant. Calcified tissue international 0 41062856
2025 GLI2 and FLNB Define Periocular Morphoeic Basal Cell Carcinoma. International journal of molecular sciences 0 41373535
2024 Severe skeletal dysplasia caused by a novel FLNB gene mutation. BMJ case reports 0 38453218
2023 A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family. The Yale journal of biology and medicine 0 37781000

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