Affinage

SACK1H

Annotated
2026-06-10
89 papers in source corpus 26 papers cited in narrative 28 extracted findings
Cross-family judge faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

FAM83H is an intracellular scaffold protein that controls the subcellular targeting of casein kinase 1 (CK1) isoforms, thereby coupling kinase activity to the keratin intermediate filament cytoskeleton and to enamel and bone development (PMID:23902688, PMID:26788537). It binds CK1α through an F270-X-X-X-F274-X-X-X-F278 motif in its N-terminal PLD-like (DUF1669) domain and engages keratins through its C-terminus, tethering CK1α to keratin filaments and regulating their filamentous state—knockdown causes filament bundling while overexpression drives disassembly in a manner dependent on CK1α kinase activity (PMID:23902688, PMID:26788537). The conserved C-terminal residues 1134–1139 dictate localization to the keratin cytoskeleton; their loss redirects FAM83H and CK1 to nuclear speckles, where recruitment depends on the scaffold protein SON and the N-terminal region (residues 1–603/DUF1669) (PMID:27681590, PMID:35821396, PMID:40210674). FAM83H additionally binds NCK1/2 adaptors via C-terminal proline-rich motifs that engage their SH3 domains (PMID:32289446). FAM83H also forms complexes with β-catenin and SCRIB and stabilizes β-catenin against ubiquitin-mediated proteasomal degradation (PMID:31215499, PMID:32564009). Truncating mutations cause autosomal dominant hypocalcified amelogenesis imperfecta through a neomorphic gain of function rather than haploinsufficiency: null mice have normal enamel whereas truncation knock-in mice phenocopy the human disease, because truncated FAM83H mislocalizes to the nucleus, retains CK1 binding, and disrupts the FAM83H-CK1α-keratin-amelogenin complex required for enamel matrix protein secretion (PMID:18252228, PMID:26788537, PMID:31060110, PMID:36272714). In mineralizing cells this mislocalization dysregulates Wnt/β-catenin signaling and impairs ameloblast and osteoblast differentiation (PMID:29709481, PMID:37028581). Beyond epithelia, FAM83H is required for cortical thymic epithelial cell maturation and DN3 thymocyte expansion in coordination with CK1 (PMID:41546142).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2008 High

    Linking FAM83H to a Mendelian enamel disorder established its physiological requirement, answering whether the gene had an essential developmental function.

    Evidence Genetic linkage and mutation cosegregation in ADHCAI families, identifying C-terminal nonsense mutations in the last exon

    PMID:18252228 PMID:18484629

    Open questions at the time
    • Did not reveal the molecular function of the protein
    • Did not distinguish loss- vs gain-of-function mechanism
    • C-terminal region requirement was inferred from mutation position only
  2. 2009 Medium

    Establishing FAM83H as a non-secreted intracellular protein near the Golgi reframed it away from an extracellular enamel matrix component.

    Evidence GFP fusion live-cell imaging in HEK293 and HeLa cells

    PMID:19828885

    Open questions at the time
    • Perinuclear localization not linked to a molecular activity
    • Single lab, overexpression-based
  3. 2010 Medium

    Showing that disease truncations mislocalize FAM83H to the nucleus introduced subcellular mistargeting as a candidate disease mechanism.

    Evidence GFP fusion microscopy of multiple truncation mutants in HEK293T cells

    PMID:21118793

    Open questions at the time
    • Nuclear mistargeting not yet connected to a partner or kinase
    • Overexpression artifact not excluded
  4. 2013 High

    Identifying FAM83H as a CK1α-keratin tether defined its core molecular activity as a kinase-cytoskeleton scaffold.

    Evidence Reciprocal Co-IP, siRNA knockdown/overexpression with keratin phenotype, and CK1α pharmacological epistasis in colorectal cancer cells

    PMID:23902688

    Open questions at the time
    • CK1α phosphorylation substrates on keratins not identified
    • Did not map precise interaction motifs
  5. 2015 High

    Null versus truncation mouse models resolved the disease mechanism as neomorphic gain-of-function and defined the CK1-binding motif and dimerization domain.

    Evidence Fam83h knockout/lacZ knockin mouse, in vitro pull-down, and in vitro kinase assay mapping the F270/F274/F278 motif

    PMID:26788537

    Open questions at the time
    • Functional consequence of CK1 phosphorylation of FAM83H unknown
    • Mouse null lacked enamel phenotype, leaving normal physiological role unclear
  6. 2016 High

    Demonstrating CK1 recruitment to nuclear speckles via SON, and desmosome disruption by truncated FAM83H, connected localization control to cell-junction biology.

    Evidence MS interactome, siRNA epistasis, and immunofluorescence in cells lacking simple epithelial keratins; ameloblast IF with CK1 inhibitor

    PMID:27222304 PMID:27681590

    Open questions at the time
    • Functional role of CK1 at nuclear speckles not defined
    • Mechanism by which truncated protein blocks desmosome assembly partial
  7. 2017 Medium

    Identifying MYC as a transcriptional activator of FAM83H placed it downstream of an oncogenic transcription factor.

    Evidence ChIP and dual-luciferase reporter assays in hepatic tumor cells

    PMID:28607447

    Open questions at the time
    • Single lab, two methods
    • Did not establish a functional consequence in tumors
  8. 2019 Medium

    Showing FAM83H binds and stabilizes β-catenin against proteasomal degradation defined a second scaffold function linking it to Wnt signaling output.

    Evidence Co-IP, knockdown/overexpression with mRNA/protein discordance, and ubiquitination assays in osteosarcoma cells

    PMID:31215499

    Open questions at the time
    • Did not identify the relevant E3 ligase
    • Relationship to CK1 scaffold role unresolved
  9. 2019 High

    A truncation knock-in mouse phenocopying human enamel defects, contrasted with the normal null, cemented the neomorphic gain-of-function model.

    Evidence CRISPR/Cas9 p.Tyr297* knock-in mouse with micro-CT, SEM, histology, and microhardness

    PMID:31060110

    Open questions at the time
    • Molecular cascade from truncated protein to enamel defect not fully traced in vivo
  10. 2020 High

    Mapping NCK1/2 binding, SEC16A interaction, and a FAM83H-SCRIB-β-catenin complex expanded the interactome and tied scaffold function to adaptor signaling and secretion.

    Evidence Co-IP with domain mapping and TurboID proximity labeling (NCK); pull-down (SEC16A); Co-IP with knockdown (SCRIB/β-catenin)

    PMID:32289446 PMID:32564009 PMID:33034243

    Open questions at the time
    • Functional consequences of NCK1/2 and SEC16A binding not established
    • SEC16A interaction is a single pull-down
  11. 2018 Medium

    Linking FAM83H mutation to Wnt/β-catenin activation in ameloblasts provided a signaling explanation for the mineralization defect.

    Evidence Co-IP, IF, ALP assay and pyrvinium pamoate rescue in LS8 cells

    PMID:29709481

    Open questions at the time
    • Single lab, overexpression of mutant
    • Apparent contradiction with later osteoblast model of Wnt inhibition unresolved
  12. 2022 High

    Defining the C-terminal residues 1134–1139 as the keratin-targeting signal and dissecting complex disruption clarified how truncation reroutes FAM83H/CK1 and impairs amelogenin secretion.

    Evidence Systematic deletion mapping with IF; CRISPR knock-in p.Q396* mouse with Co-IP complex analysis, EDS, and mRNA-seq

    PMID:35821396 PMID:36272714

    Open questions at the time
    • How CK1 retention at the nucleus mechanistically disrupts secretion incompletely defined
  13. 2022 Medium

    Knockdown defining FAM83H as a regulator of enamel matrix protein expression connected the scaffold to the secretory output of ameloblasts.

    Evidence siRNA knockdown with qRT-PCR and western blot in HAT-7 ameloblast cells

    PMID:36318336

    Open questions at the time
    • Direct vs indirect regulation of matrix genes not distinguished
    • Single cell line
  14. 2023 High

    An osteoblast study showed the same truncation increases cytoplasmic CK1α, promotes β-catenin degradation, and inhibits Wnt signaling, extending the neomorphic mechanism to bone.

    Evidence Fam83hQ396* knock-in mouse, primary osteoblasts, western blot, with CK1α siRNA and Wnt agonist rescue

    PMID:37028581

    Open questions at the time
    • Direction of Wnt effect differs from ameloblast model, mechanism of context dependence unclear
  15. 2025 Medium

    Identifying TRIM29 and FNDC3B as stabilizers of FAM83H established upstream control of its protein abundance and tied it to cancer metastasis programs.

    Evidence Co-IP, LC-MS/MS, ubiquitination and rescue assays with in vivo metastasis models in colorectal and gastric cancer

    PMID:40389046 PMID:40450207

    Open questions at the time
    • Whether these are direct E3-substrate relationships not fully resolved
    • Single lab per axis
  16. 2025 Medium

    Revealing a requirement for FAM83H in cortical thymic epithelial cell maturation uncovered an immunological function beyond epithelia and mineralized tissue.

    Evidence Fam83h knockout and CK1-binding-domain deletion mice with single-cell RNA-seq and thymic histology

    PMID:41546142

    Open questions at the time
    • Mechanistic link between FAM83H-CK1 and Foxn1 transcription not established
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how FAM83H-tethered CK1 selects its physiological substrates and how the same protein produces opposing Wnt/β-catenin outcomes across cell types.
  • No direct CK1 substrate identified at keratin filaments or nuclear speckles
  • Context dependence of β-catenin stabilization vs degradation unexplained
  • No structural model of the FAM83H-CK1-keratin complex

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0140096 catalytic activity, acting on a protein 3 GO:0008092 cytoskeletal protein binding 2 GO:0140313 molecular sequestering activity 2
Localization
GO:0005654 nucleoplasm 3 GO:0005856 cytoskeleton 3 GO:0005634 nucleus 2 GO:0005829 cytosol 1 GO:0031410 cytoplasmic vesicle 1
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-162582 Signal Transduction 3 R-HSA-1643685 Disease 2
Partners
CSNK1A1CTNNB1FNDC3BNCK1NCK2SCRIBSONTRIM29
Complex memberships
FAM83H-CK1-SON nuclear speckle complexFAM83H-CK1α-keratin complexFAM83H-CK1α-keratin14-amelogenin complexFAM83H-SCRIB-β-catenin complex

Evidence

Reading pass · 28 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 Nonsense mutations in FAM83H (R325X and Q398X) cause autosomal dominant hypocalcified amelogenesis imperfecta, establishing FAM83H as required for proper dental enamel calcification. Genetic linkage and mutation analysis with cosegregation in affected families American journal of human genetics High 18252228
2008 All ADHCAI-causing FAM83H mutations are nonsense mutations in the last exon that delete between 503 and 883 amino acids from the C-terminus, establishing that the large C-terminal portion of FAM83H is required for enamel calcification. Mutation screening and sequencing of four kindreds with ADHCAI Human mutation High 18484629
2009 FAM83H (Fam83h) protein localizes to perinuclear vesicles in the vicinity of the Golgi apparatus in HEK293 and HeLa cells, and is not secreted (lacks signal peptide), establishing it as an intracellular protein. GFP fusion protein expression and live-cell fluorescence imaging in HEK293 and HeLa cells Journal of dental research Medium 19828885
2010 Truncation mutations (R325X, W460X, Q677X) cause FAM83H to relocalize predominantly to the nucleus, whereas wild-type and p.E694X mutant FAM83H localizes to the cytoplasm in HEK293T cells, linking nuclear mistargeting of truncated FAM83H to severe generalized enamel phenotype. GFP fusion protein transfection and fluorescence microscopy in HEK293T cells Journal of dental research Medium 21118793
2013 FAM83H regulates the filamentous state of keratins in epithelial cells: FAM83H knockdown induces keratin filament bundling, while overexpression disassembles keratin filaments. The N-terminal region of FAM83H interacts with CK-1α and the C-terminal region interacts with keratins, suggesting FAM83H tethers CK-1α to keratins. siRNA knockdown, overexpression, co-immunoprecipitation, immunofluorescence in colorectal cancer cells Journal of cell science High 23902688
2013 CK-1α inhibition phenocopies FAM83H knockdown (causes keratin filament bundling) and reverses keratin filament disassembly induced by FAM83H overexpression, establishing that CK-1α kinase activity mediates FAM83H-dependent keratin cytoskeleton reorganization. CK-1α pharmacological inhibition, epistasis analysis in colorectal cancer cells Journal of cell science High 23902688
2015 Fam83h knockout mice show no dental enamel defects, but Fam83h truncation causes altered subcellular localization of CK1. FAM83H dimerizes through its N-terminal PLD-like (DUF1669) domain, and CK1 interacts with FAM83H via an F270-X-X-X-F274-X-X-X-F278 motif within the PLD-like domain. CK1 can phosphorylate FAM83H in vitro, with phosphorylation sites in the C-terminus. Fam83h knockout/lacZ knockin mouse model; in vitro pull-down assays; in vitro kinase assay; LacZ reporter expression Molecular genetics & genomic medicine High 26788537
2015 Fam83h null mice have no enamel phenotype, supporting a neomorphic (gain-of-function) rather than haploinsufficiency mechanism for ADHCAI caused by FAM83H truncation mutations. Fam83h knockout mouse characterization (enamel microhardness, histology, micro-CT) Molecular genetics & genomic medicine High 26788537
2016 FAM83H localizes on keratin filaments preferentially around the nucleus extending to cell-cell junctions in ameloblastoma cells and mouse ameloblasts in vivo. AI-causing truncated FAM83H prevents desmosomal proteins from localizing to cell-cell junctions, and this effect depends on the truncated protein's binding to and inhibition of CK-1. Immunofluorescence in human ameloblastoma cell lines and mouse tissue; overexpression/knockdown/AI-mutant transfection; CK-1 inhibitor D4476 Scientific reports High 27222304
2016 CK1α (and CK1δ/ε) is recruited to nuclear speckles by FAM83H together with the scaffold protein SON; FAM83H and CK1α localize to nuclear speckles in cells lacking simple epithelial keratins, and knockdown of FAM83H or SON delocalizes CK1 from nuclear speckles. siRNA knockdown, interactome analysis (MS), immunofluorescence in colorectal cancer cells Scientific reports High 27681590
2017 MYC binds to the promoter of FAM83H and promotes its transcription, as demonstrated by chromatin immunoprecipitation assay and dual-luciferase reporter assay in hepatic tumor cells. Chromatin immunoprecipitation (ChIP), dual-luciferase reporter assay, Tet-O-MYC mouse model hepatic cells Scientific reports Medium 28607447
2018 Fam83h mutation (c.1186C>T) alters the localization of Fam83h, CK1α, and β-catenin in LS8 ameloblast cells, inhibits mineralization, and downregulates expression of mineralization factors. Pyrvinium pamoate (Wnt/β-catenin inhibitor) rescues the inhibited mineralization, establishing that Fam83h mutation activates Wnt/β-catenin signaling to inhibit ameloblast mineralization. Immunoprecipitation, western blot, immunofluorescence, ALP activity assay, Wnt pathway inhibitor rescue in LS8 cells Biochemical and biophysical research communications Medium 29709481
2019 FAM83H directly interacts with β-catenin by immunoprecipitation, and FAM83H knockdown decreases β-catenin protein but not mRNA, increases β-catenin ubiquitination and proteasomal degradation, while overexpression stabilizes β-catenin. This establishes FAM83H as a scaffold that stabilizes β-catenin by preventing its proteasomal degradation in osteosarcoma cells. Co-immunoprecipitation, knockdown/overexpression, western blot, ubiquitination assay in osteosarcoma cells Journal of experimental & clinical cancer research Medium 31215499
2019 Fam83h truncation (p.Tyr297*) knock-in mice exhibit enamel defects (hypoplastic enamel, rough surfaces, altered enamel rod orientation), whereas null mice do not, confirming a neomorphic gain-of-function mechanism for ADHCAI truncation mutations. CRISPR/Cas9 knock-in mouse model; micro-CT, SEM, histology, microhardness measurement Molecular genetics & genomic medicine High 31060110
2020 FAM83H interacts with NCK1/2 tyrosine kinase adaptor proteins, mediated by proline-rich motifs in the C-terminus of FAM83H specifically binding the second and third SH3 domains of NCK1/2. AI mutant truncated FAM83H proteins lose this interaction while retaining interaction with CK1 isoforms. AI mutant FAM83H acquires nuclear localization and recruits CK1 to the nucleus where CK1 retains kinase activity. Co-immunoprecipitation, domain deletion mapping, co-localization, TurboID proximity labeling in cell lines Cellular signalling High 32289446
2020 FAM83H, SCRIB, and β-catenin form a protein complex (demonstrated by immunoprecipitation), and knockdown of either FAM83H or SCRIB accelerates proteasomal degradation of β-catenin in gastric cancer cells. Co-immunoprecipitation, knockdown experiments, western blot in gastric cancer cells Aging Medium 32564009
2020 FAM83H interacts with SEC16A, a component of the COPII complex at ER exit sites, with the interaction mediated by the middle part (amino acids 287–657) of mouse FAM83H, suggesting a role for FAM83H in ER-to-Golgi vesicle trafficking and protein secretion. In vitro pull-down studies with overexpressed FAM83H proteins in HEK293 cells Journal of dental research Medium 33034243
2021 FAM83H knockdown in cutaneous SCC cells enhances migration and invasion, while overexpression decreases both. FAM83H forms a complex with TRIM29 and keratins (by immunoprecipitation), and FAM83H knockdown alters keratin distribution and solubility. siRNA knockdown, overexpression, immunoprecipitation, immunofluorescence, migration/invasion assays, in vivo metastasis model Journal of dermatological science Medium 34657752
2022 The conserved C-terminal residues 1134–1139 of FAM83H are required for its localization to and recruitment of CK1 to the keratin cytoskeleton. Deletion of these residues causes FAM83H and CK1 to translocate to nuclear speckles instead. Amino acid residues 1–603 contain the region responsible for CK1 recruitment to nuclear speckles. Deletion mutant transfection, immunofluorescence in cell lines Scientific reports Medium 35821396
2022 Truncated FAM83H (p.Q396*) disrupts the FAM83H-CK1α-keratin 14-amelogenin complex in ameloblasts, leading to retention of amelogenin (AMELX) in the cytoplasm, decreased iron transport (reduced TFRC and SLC40A1), and decreased desmoglein 3 expression. CRISPR/Cas9 knock-in mouse (Fam83hQ396*/Q396*), immunofluorescence, EDS, Co-IP/complex analysis, mRNA sequencing Bone High 36272714
2022 FAM83H knockdown in HAT-7 ameloblast cells decreases expression of amelogenin, enamelin, and kallikrein-related peptidase-4, while ameloblastin expression increases, establishing FAM83H as a regulator of enamel matrix protein secretion. siRNA knockdown in HAT-7 cells, qRT-PCR and western blot Clinical oral investigations Medium 36318336
2023 Fam83h mutation (p.Q396*) in osteoblasts increases cytoplasmic CK1α levels (as part of the β-catenin degradation complex), promotes β-catenin degradation, reduces β-catenin nuclear translocation, inhibits Wnt/β-catenin signaling, and impairs osteoblast differentiation, causing mandible underdevelopment. Ck1α siRNA or Wnt agonists partially rescue this mineralization defect. Fam83hQ396*/Q396* knock-in mouse model; primary osteoblast culture; western blot; CK1α siRNA and Wnt agonist rescue experiments Bone High 37028581
2025 The DUF1669 domain (residues 17–281) of FAM83H is required but not sufficient for nuclear speckle localization. Deletions within residues 1–300 attenuate or abolish nuclear speckle localization. Some ADHCAI-truncated FAM83H proteins containing the DUF1669 domain do not localize to nuclear speckles, indicating additional sequence requirements. Systematic deletion and truncation mutant transfection, immunofluorescence in cell lines Scientific reports Medium 40210674
2025 FNDC3B interacts with FAM83H (by Co-IP) and inhibits its ubiquitin-proteasome degradation, thereby stabilizing FAM83H protein. FNDC3B promotes gastric cancer metastasis via the FNDC3B/FAM83H/Snail/EMT axis. Co-immunoprecipitation, LC-MS/MS, rescue experiments, in vitro and in vivo functional assays Cellular & molecular biology letters Medium 40450207
2025 TRIM29 interacts with FAM83H and stabilizes it by reducing its ubiquitination and degradation, thereby redistributing cellular keratins and activating the NF-κB pathway and PLXNB2 upregulation to promote colorectal cancer liver metastasis. Co-immunoprecipitation, multi-omics sequencing, in vitro functional assays, in vivo metastasis models Cellular signalling Medium 40389046
2025 In Fam83h-deficient mice, FAM83H expression is confined to thymic epithelial cells (TECs); its deficiency disrupts thymic architecture and causes a severe block in DN3 T cell expansion. Single-cell transcriptomics reveals reduced Foxn1 and its downstream targets in cortical TECs, suggesting FAM83H, in coordination with CK1, is required for cTEC maturation. Fam83h knockout mouse model (Fam83h-/-) and CK1-binding domain deletion (Fam83hΔ87/Δ87); single-cell RNA-seq; histological analysis of thymus European journal of immunology Medium 41546142
2024 In an ARSACS cellular model, CK1α, FAM83H, and FAM83B are upregulated and co-localize at sites of intermediate filament (neurofilament) bundling. CK1α inhibition or knockdown of FAM83H/FAM83B causes neurofilament bundling, while CK1α activation (SSTC3) only partially remediates bundling, suggesting FAM83H-CK1α axis regulates neurofilament dynamics. CRISPR knockdown, pharmacological CK1α inhibition/activation, immunofluorescence, co-localization in ARSACS patient fibroblasts and Sacs-/- cerebellum bioRxivpreprint Low bio_10.1101_2024.10.01.616079
2016 Fluoride exposure downregulates Fam83h expression in LS8 ameloblast-like cells via suppression of JNK and P38 (MAPK) phosphorylation, identifying the P38/JNK signaling pathway as a regulator of Fam83h expression in ameloblasts. Western blot and qRT-PCR with fluoride and MAPK inhibitor treatment in LS8 cells; ALP activity assay Biochemical and biophysical research communications Medium 26876574

Source papers

Stage 0 corpus · 89 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2008 FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. American journal of human genetics 155 18252228
2013 A novel mechanism of keratin cytoskeleton organization through casein kinase Iα and FAM83H in colorectal cancer. Journal of cell science 64 23902688
2020 LncRNA FAM83H-AS1 promotes triple-negative breast cancer progression by regulating the miR-136-5p/metadherin axis. Aging 59 32074085
2019 LncRNA FAM83H-AS1 contributes to the radioresistance, proliferation, and metastasis in ovarian cancer through stabilizing HuR protein. European journal of pharmacology 56 30831080
2009 Phenotypic variation in FAM83H-associated amelogenesis imperfecta. Journal of dental research 56 19407157
2019 Long non-coding RNA FAM83H-AS1 is regulated by human papillomavirus 16 E6 independently of p53 in cervical cancer cells. Scientific reports 54 30842470
2012 Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. PLoS genetics 52 22253609
2008 Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification. Human mutation 51 18484629
2017 Overexpression of FAM83H-AS1 indicates poor patient survival and knockdown impairs cell proliferation and invasion via MET/EGFR signaling in lung cancer. Scientific reports 45 28198463
2016 FAM83H and casein kinase I regulate the organization of the keratin cytoskeleton and formation of desmosomes. Scientific reports 44 27222304
2019 FAM83H is involved in stabilization of β-catenin and progression of osteosarcomas. Journal of experimental & clinical cancer research : CR 43 31215499
2015 Fam83h null mice support a neomorphic mechanism for human ADHCAI. Molecular genetics & genomic medicine 39 26788537
2009 Fam83h is associated with intracellular vesicles and ADHCAI. Journal of dental research 38 19828885
2017 FAM83H is involved in the progression of hepatocellular carcinoma and is regulated by MYC. Scientific reports 36 28607447
2010 FAM83H mutations cause ADHCAI and alter intracellular protein localization. Journal of dental research 36 21118793
2009 Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. Cells, tissues, organs 36 20160442
2016 Casein kinase 1 is recruited to nuclear speckles by FAM83H and SON. Scientific reports 33 27681590
2009 Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypocalcified amelogenesis imperfecta. International endodontic journal 31 19825039
2018 Long noncoding RNA FAM83H-AS1 exerts an oncogenic role in glioma through epigenetically silencing CDKN1A (p21). Journal of cellular physiology 29 29870057
2018 FAM83H-AS1 is associated with clinical progression and modulates cell proliferation, migration, and invasion in bladder cancer. Journal of cellular biochemistry 27 30537032
2014 Ultrastructural analysis of the teeth affected by amelogenesis imperfecta resulting from FAM83H mutations and review of the literature. Oral surgery, oral medicine, oral pathology and oral radiology 27 25487982
2019 The Expression Patterns of FAM83H and PANX2 Are Associated With Shorter Survival of Clear Cell Renal Cell Carcinoma Patients. Frontiers in oncology 26 30723706
2015 Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel. Archives of oral biology 25 26142250
2020 FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta. Journal of dental research 24 33034243
2019 Upregulation of LncRNA FAM83H-AS1 in hepatocellular carcinoma promotes cell proliferation, migration and invasion by Wnt/β-catenin pathway. European review for medical and pharmacological sciences 23 31599410
2024 M6A-modified lncRNA FAM83H-AS1 promotes colorectal cancer progression through PTBP1. Cancer letters 22 38964733
2019 LncRNA FAM83H-AS1 induces nucleus pulposus cell growth via targeting the Notch signaling pathway. Journal of cellular physiology 22 31102263
2013 Effects of Fam83h overexpression on enamel and dentine formation. Archives of oral biology 22 23545224
2020 Long Noncoding RNA FAM83H-AS1 Modulates SpA-Inhibited Osteogenic Differentiation in Human Bone Mesenchymal Stem Cells. Molecular and cellular biology 21 31871129
2020 LncRNA FAM83H-AS1 promotes oesophageal squamous cell carcinoma progression via miR-10a-5p/Girdin axis. Journal of cellular and molecular medicine 21 32583631
2020 Silence of FAM83H-AS1 promotes chemosensitivity of gastric cancer through Wnt/β-catenin signaling pathway. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 20 32028241
2018 Fam83h mutation inhibits the mineralization in ameloblasts by activating Wnt/β-catenin signaling pathway. Biochemical and biophysical research communications 20 29709481
2017 Novel FAM83H mutations in patients with amelogenesis imperfecta. Scientific reports 20 28729668
2009 Expression patterns of the Fam83h gene during murine tooth development. Archives of oral biology 20 19545854
2020 FAM83H and SCRIB stabilize β-catenin and stimulate progression of gastric carcinoma. Aging 18 32564009
2019 The Enamel Phenotype in Homozygous Fam83h Truncation Mice. Molecular genetics & genomic medicine 18 31060110
2011 Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation. International journal of paediatric dentistry 18 21702852
2019 Clinical significance of lncRNA FAM83H-AS1 in ovarian cancer. European review for medical and pharmacological sciences 16 31210291
2022 LncRNA FAM83H-AS1 promotes the malignant progression of pancreatic ductal adenocarcinoma by stabilizing FAM83H mRNA to protect β-catenin from degradation. Journal of experimental & clinical cancer research : CR 15 36171592
2021 A Novel Androgen-Induced lncRNA FAM83H-AS1 Promotes Prostate Cancer Progression via the miR-15a/CCNE2 Axis. Frontiers in oncology 15 33614501
2021 FAM83H-AS1 is a noncoding oncogenic driver and therapeutic target of lung adenocarcinoma. Clinical and translational medicine 15 33634993
2020 LncRNA FAM83H-AS1 maintains intervertebral disc tissue homeostasis and attenuates inflammation-related pain via promoting nucleus pulposus cell growth through miR-22-3p inhibition. Annals of translational medicine 15 33313263
2018 Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells. Oral diseases 15 29949226
2020 Promoting roles of long non-coding RNA FAM83H-AS1 in bladder cancer growth, metastasis, and angiogenesis through the c-Myc-mediated ULK3 upregulation. Cell cycle (Georgetown, Tex.) 14 33289601
2019 Upregulation of the long non-coding RNA FAM83H-AS1 in gastric cancer and its clinical significance. Pathology, research and practice 14 31493939
2018 A novel FAM83H mutation in one Chinese family with autosomal-dominant hypocalcification amelogenesis imperfecta. Mutagenesis 14 30247735
2016 P38/JNK signaling pathway mediates the fluoride-induced down-regulation of Fam83h. Biochemical and biophysical research communications 14 26876574
2020 Characterisation of the biochemical and cellular roles of native and pathogenic amelogenesis imperfecta mutants of FAM83H. Cellular signalling 13 32289446
2023 WTAP-Involved the m6A Modification of lncRNA FAM83H-AS1 Accelerates the Development of Gastric Cancer. Molecular biotechnology 12 37477820
2021 Loss of FAM83H promotes cell migration and invasion in cutaneous squamous cell carcinoma via impaired keratin distribution. Journal of dermatological science 12 34657752
2019 Generation of Fam83h knockout mice by CRISPR/Cas9-mediated gene engineering. Journal of cellular biochemistry 12 30714208
2024 LncRNA FAM83H-AS1 inhibits ferroptosis of endometrial cancer by promoting DNMT1-mediated CDO1 promoter hypermethylation. The Journal of biological chemistry 11 39159808
2014 Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta. Iranian journal of public health 11 26171361
2020 Expression of FAM83H and ZNF16 are associated with shorter survival of patients with gallbladder carcinoma. Diagnostic pathology 10 32460791
2019 Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation. Genes & diseases 10 31832519
2022 Effects of Fam83h truncation mutation on enamel developmental defects in male C57/BL6J mice. Bone 9 36272714
2021 Long non-coding RNA FAM83H-AS1 acts as a potential oncogenic driver in human ovarian cancer. Journal of ovarian research 9 33413565
2023 Fam83h mutation causes mandible underdevelopment via CK1α-mediated Wnt/β-catenin signaling in male C57/BL6J mice. Bone 8 37028581
2022 The conserved C-terminal residues of FAM83H are required for the recruitment of casein kinase 1 to the keratin cytoskeleton. Scientific reports 8 35821396
2022 Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins. Clinical oral investigations 7 36318336
2021 Age-related dental phenotypes and tooth characteristics of FAM83H-associated hypocalcified amelogenesis imperfecta. Oral diseases 7 33486840
2022 Role of lncRNA FAM83H antisense RNA1 (FAM83H-AS1) in the progression of non-small cell lung cancer by regulating the miR-545-3p/heparan sulfate 6-O-sulfotransferase (HS6ST2) axis. Bioengineered 6 35260044
2021 FAM83H and Nectin1 expression are related with survival and relapse of bladder urothelial carcinoma patients. BMC urology 6 34625065
2020 The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family. Clinical oral investigations 6 33009625
2017 Evolutionary analysis of FAM83H in vertebrates. PloS one 6 28683132
2023 CRISPR/Cas9-Induced Fam83h Knock-out Leads to Impaired Wnt/β-Catenin Pathway and Altered Expression of Tooth Mineralization Genes in Mice. Iranian journal of biotechnology 5 38269199
2022 CRISPR/Cas9-mediated deletion of Fam83h induces defective tooth mineralization and hair development in rabbits. Journal of cellular and molecular medicine 5 36300761
2022 A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes. Children (Basel, Switzerland) 4 35327733
2022 Identification of a Novel FAM83H Mutation and Management of Hypocalcified Amelogenesis Imperfecta in Early Childhood. Children (Basel, Switzerland) 4 35327801
2022 Individual and Co-Expression Patterns of FAM83H and SCRIB at Diagnosis Are Associated with the Survival of Colorectal Carcinoma Patients. Diagnostics (Basel, Switzerland) 4 35885485
2018 Immunohistochemical Localization of Fam83h During Fluorosis-induced Mouse Molar Development. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 4 29676651
2024 LncRNA FAM83H-AS1 Contributes to the Radio-resistance and Proliferation in Liver Cancer through Stability FAM83H Protein. Recent patents on anti-cancer drug discovery 3 37132310
2023 Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta. Clinical oral investigations 3 37615776
2021 FAM83H-AS1/miR-485-5p/MEF2D axis facilitates proliferation, migration and invasion of hepatocellular carcinoma cells. BMC cancer 3 34876040
2025 The DUF1669 domain of FAM83H is required for its localization to nuclear speckles. Scientific reports 2 40210674
2025 The emerging roles and mechanisms of FAM83H‑AS1 in cancer: Pathophysiology and therapeutic implications (Review). Oncology letters 2 40235683
2025 FNDC3B promotes gastric cancer metastasis via interacting with FAM83H and preventing its proteasomal degradation. Cellular & molecular biology letters 2 40450207
2025 Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. Molecular genetics & genomic medicine 2 40506835
2024 FAM83H regulated by glis3 promotes triple-negative breast cancer tumorigenesis and activates the NF-κB signaling pathway. Journal of molecular histology 2 39304594
2025 Molecular Dynamics of Breast Cancer Subtypes: The Role of FAM83H-AS1 Long Non-coding RNA in Breast Cancer Metastasis. Breast cancer research and treatment 1 39891867
2025 TRIM29 promotes liver metastasis via enhancing hepatic colonization by stabilizing FAM83H to regulate keratin network in colorectal cancer. Cellular signalling 1 40389046
2025 Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta. International dental journal 1 41385922
2020 Aberrantly upregulated FAM83H-AS1 facilitates malignant progression of esophageal squamous cell carcinoma. Oncology letters 1 33154766
2026 FAM83H Regulates Postnatal T Cell Development Through Thymic Stroma Organization. European journal of immunology 0 41546142
2026 Serum long noncoding RNA FAM83H-AS1 serves as a potential noninvasive diagnostic biomarker for ovarian cancer. Journal of ovarian research 0 41629968
2026 Pre-eruptive Coronal Resorptions as a Clinical Feature of FAM83H-Related Amelogenesis Imperfecta: Insights from Two Brazilian Families. Calcified tissue international 0 42081114
2025 Expression of AMELX, AMBN, ENAM, TUFT1, FAM83H and MMP20 Genes in Buccal Epithelial Cells from Patients with Molar Incisor Hypomineralization (MIH)-A Pilot Study. International journal of molecular sciences 0 39859478
2023 [Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation]. Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology 0 37659852
2023 FAM83H Expression Is Associated with Tumor-Infiltrating PD1-Positive Lymphocytes and Predicts the Survival of Breast Carcinoma Patients. Diagnostics (Basel, Switzerland) 0 37761326

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