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Showing POLR1B — RPA135 is a alias.

POLR1B

DNA-directed RNA polymerase I subunit RPA2 · UniProt Q9H9Y6

Length
1135 aa
Mass
128.2 kDa
Annotated
2026-06-10
48 papers in source corpus 17 papers cited in narrative 17 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/7 claims corpus-supported (86%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

POLR1B (yeast RPA135/Rpa2) is the second-largest catalytic subunit of RNA polymerase I and is the essential, normally sole source of rRNA synthesis required for ribosome biogenesis (PMID:7739526). Its C-terminal Zn-binding domain serves a structural role in recruiting the largest subunit RPA190/Rpa190 to assemble the Pol I complex (PMID:14555487), and it forms a core complex with RPA194 that remains intact independently of the peripheral RPA12 subunit (PMID:37167337). POLR1B sits at a jaw-lobe structural interface (lobe in RPA135, jaw in RPA190/RPA12) that governs transcription elongation: the gain-of-function RPA135-F301S allele yields a hyperactive "SuperPol" that reduces premature transcription termination and increases rRNA output at the cost of fidelity, and this same property confers resistance to the elongation inhibitor BMH-21 — establishing premature termination as the mechanism of BMH-21 action and POLR1B as a controller of elongation rate (PMID:31136569, PMID:41677783). POLR1B also functions through direct interaction with the PAF49/A34 subunit, whose 'arm' domain binds POLR1B to support rDNA transcription (PMID:37356716). Loss of POLR1B function disrupts rRNA synthesis, collapses nucleolar phase-separation and structural integrity, and causes preimplantation lethality in mice (PMID:18023416, PMID:37639467). Pathogenic POLR1B variants cause Treacher Collins syndrome type 4, acting via p53-dependent apoptosis in the neuroepithelium and depletion of neural crest cell derivatives (PMID:31649276); disease-associated residue substitutions impair Pol I elongation/progression along rDNA rather than subunit stability (PMID:41542823). At the regulatory level, POLR1B is a c-MYC target gene coordinately controlled with other Pol I factors to set ribosomal RNA gene transcription (PMID:21177653).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 1991 Medium

    Established that POLR1B (RPA135) is genetically required for Pol I-dependent rRNA synthesis, defining it as a member of the dedicated rRNA transcription machinery.

    Evidence Genetic screen for Pol I transcription mutants using a GAL7-hybrid rescue system in S. cerevisiae

    PMID:1871118

    Open questions at the time
    • Did not define the biochemical role of RPA135 within Pol I
    • No structural or interaction data
  2. 1995 High

    Demonstrated that Pol I (via RPA135) is the normal sole source of 25S/18S/5.8S rRNAs, with loss survivable only through a cryptic Pol II promoter switch.

    Evidence RPA135 gene disruption and polymerase-specific transcript analysis in yeast petite mutants

    PMID:7739526

    Open questions at the time
    • Did not address mechanism of subunit catalytic contribution
    • Polymerase switch is non-physiological rescue
  3. 1998 High

    Linked RPA135/Pol I to genomic stability of the rDNA array, showing it regulates rDNA copy number via FOB1-dependent replication fork blockage.

    Evidence Yeast deletion/complementation, rDNA copy number analysis, fob1 epistasis

    PMID:9869636

    Open questions at the time
    • Mechanistic link between transcription and recombination not fully resolved
    • Not tested in metazoans
  4. 2003 Medium

    Identified the structural basis of Pol I assembly: the RPA135 C-terminal Zn-binding domain recruits the largest subunit RPA190, a role that is structural rather than dependent on Zn coordination.

    Evidence Cysteine-to-alanine mutagenesis and Pol I complex assembly analysis in yeast

    PMID:14555487

    Open questions at the time
    • Single-lab mutagenesis without structural confirmation at the time
    • Atomic-level interface not resolved
  5. 2007 Medium

    Placed RPA135 in a functional network with Rpa34/Rpa49 and defined the jaw-lobe interface as critical for Pol I function.

    Evidence Synthetic lethality analysis of rpa135 point mutants with rpa34/rpa49 deletions in yeast

    PMID:18086878

    Open questions at the time
    • Genetic interaction did not establish direct physical contacts
    • Functional consequence of jaw-lobe interface not biochemically tested
  6. 2007 High

    Showed the metazoan POLR1B ortholog is essential for early development, with truncation impairing rRNA synthesis, disrupting the nucleolus, and triggering apoptosis.

    Evidence Gene-trap truncation in mouse Rpo1-2 with rRNA synthesis, nucleolar, and embryo histology assays

    PMID:18023416

    Open questions at the time
    • Truncation rather than clean null
    • Mechanism connecting nucleolar disruption to apoptosis not defined
  7. 2018 High

    Established that POLR1B and Pol I subunits are required for the conserved elongation checkpoint that drives BMH-21-mediated degradation of RPA194.

    Evidence Genetic analyses in yeast and human cells plus reconstituted Pol I transcription assay with BMH-21

    PMID:29642000

    Open questions at the time
    • Precise molecular trigger of the checkpoint not defined
    • Role of POLR1B residues in pausing not yet mapped
  8. 2019 High

    Defined POLR1B residue F301 at the jaw-lobe interface as a controller of Pol I activity, with F301S producing hyperactive polymerase via a conformational change favoring DNA cleft insertion.

    Evidence Suppressor screen, ChIP, in vitro tailed-template transcription, and cryo-EM structural mapping in yeast

    PMID:31136569

    Open questions at the time
    • Mechanism of increased activity inferred rather than directly visualized
    • Did not yet link to termination control
  9. 2019 High

    Demonstrated that POLR1B is a Treacher Collins syndrome type 4 gene, acting through ribosomal gene dysregulation, p53-dependent neuroepithelial apoptosis, and neural crest depletion.

    Evidence Human exome sequencing plus zebrafish polr1b morpholino knockdown with craniofacial, apoptosis, and NCC phenotyping

    PMID:31649276

    Open questions at the time
    • Morpholino-based knockdown rather than stable genetic model
    • Variant-specific molecular effects not resolved here
  10. 2020 Medium

    Showed the RPA194-POLR1B core complex remains intact independently of the peripheral RPA12 subunit, distinguishing core from accessory subunit dependencies.

    Evidence RPA12 siRNA knockdown with co-IP, immunofluorescence, and chromatin engagement assays in human cells

    PMID:37167337

    Open questions at the time
    • Single-lab study
    • Did not test reciprocal effects of POLR1B loss on RPA194 stability
  11. 2023 High

    Mapped a direct physical interaction between the PAF49/A34 'arm' domain and POLR1B that is required for rDNA transcription and selectively lethal to cancer cells when disrupted.

    Evidence Auxin-induced degron, domain deletion, co-IP, and transcription/viability assays in normal and cancer cells

    PMID:37356716

    Open questions at the time
    • Structural detail of the interface not resolved in this work
    • Basis of cancer-cell selectivity not fully defined
  12. 2023 Low

    Provided structural placement of the A34 arm at the POLR1B/PolR1A/PolR1C interface within the Pol I complex.

    Evidence In silico structural analysis and cryo-EM interpretation

    PMID:39858608

    Open questions at the time
    • Primarily computational/structural inference without functional mutagenesis in this paper
    • Interface contacts not biochemically validated here
  13. 2023 High

    Established that POLR1B/Pol I activity and rRNA transcription are required to maintain nucleolar phase-separation properties and integrity in development.

    Evidence Polr1b-/- mouse null, pharmacological Pol I inhibition, live imaging, and viscosity measurements

    PMID:37639467

    Open questions at the time
    • Molecular link between rRNA output and phase behavior not fully dissected
    • Specific POLR1B contribution versus general Pol I activity not separable
  14. 2026 Medium

    Defined the mechanism of TCS4 disease mutations: substitutions at Rpa2 R1022 cause abnormal 5' Pol I accumulation and defective pre-rRNA biogenesis by impairing elongation/progression rather than subunit stability.

    Evidence TCS4-mutation knock-in in S. pombe rpa2 with ChIP, pre-rRNA, growth, and BMH-21 sensitivity assays

    PMID:41542823

    Open questions at the time
    • Modeled in fission yeast rather than human cells
    • Single-lab characterization
  15. 2026 High

    Unified the elongation phenotypes by showing the POLR1B-F301S SuperPol reduces premature transcription termination to boost rRNA output and confers BMH-21 resistance, establishing premature termination as the BMH-21 inhibition mechanism.

    Evidence CRAC, in vitro transcription, rRNA quantification, and BMH-21 treatment comparing WT and RPA135-F301S Pol I

    PMID:41677783

    Open questions at the time
    • Fidelity trade-off mechanism not fully characterized
    • Relevance to mammalian POLR1B termination control inferred

Open questions

Synthesis pass · forward-looking unresolved questions
  • How transcriptional regulators such as c-MYC and the upstream signals controlling POLR1B expression integrate with its elongation-rate and nucleolar phase-separation functions in human tissues remains undefined.
  • No structural model of human POLR1B-containing Pol I in the corpus
  • Tissue-specific regulation linking MYC control to disease phenotype not established
  • Mechanism connecting elongation defects to neural-crest-specific p53 apoptosis unresolved

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0140098 catalytic activity, acting on RNA 4 GO:0005198 structural molecule activity 3 GO:0003677 DNA binding 2
Localization
GO:0005730 nucleolus 2 GO:0005634 nucleus 1
Pathway
R-HSA-74160 Gene expression (Transcription) 3 R-HSA-8953854 Metabolism of RNA 3 R-HSA-1643685 Disease 2
Partners
PAF49POLR1APOLR1CRPA12RPA190RPA194
Complex memberships
RNA polymerase I

Evidence

Reading pass · 17 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1998 Absence of RPA135 (the second-largest subunit of yeast RNA Pol I) triggers a gradual decrease in rDNA repeat number to ~half normal level, and reintroduction of RPA135 restores normal repeat number. This effect requires FOB1 (replication fork blocking protein), placing RNA Pol I/RPA135 as a regulator of rDNA copy number stability via replication fork blockage-stimulated recombination. Yeast genetic deletion/complementation (rpa135Δ mutants), rDNA copy number analysis, epistasis with fob1Δ Genes & development High 9869636
1991 RPA135 was identified as one of at least nine genes (RRN1–RRN9) specifically required for RNA Pol I-dependent 35S rRNA synthesis in S. cerevisiae, established by a genetic screen using a GAL7-driven Pol II rescue system to identify mutants defective in Pol I transcription. Genetic screen for Pol I transcription mutants using GAL7-hybrid gene suppression system; red/white colony color assay and galactose-dependent growth test Proceedings of the National Academy of Sciences of the United States of America Medium 1871118
1995 Yeast cells lacking RNA Pol I activity due to RPA135 gene disruption can survive by switching rDNA transcription to RNA Pol II via a cryptic Pol II promoter overlapping the Pol I promoter in rDNA. This demonstrates that RPA135 (and thus Pol I) is the sole normal source of 25S, 18S, and 5.8S rRNAs, and its loss is viable only through this polymerase switch. RPA135 gene disruption; RNA analysis of polymerase-specific transcripts; episomal rDNA characterization in petite mutants Molecular and cellular biology High 7739526
2003 The C-terminal Zn-binding domain of Rpa135 (yeast POLR1B ortholog) is required for recruitment of the largest Pol I subunit Rpa190 into the RNA polymerase I complex. Nonfunctional Rpa135 mutants lacking this domain failed to assemble Pol I. Surprisingly, replacement of all four cysteines with alanines still yielded functional Rpa135, indicating the domain's essential role is structural rather than Zn2+-coordination per se. Mutagenesis of Zn-binding domain (individual and combinatorial cysteine-to-alanine substitutions); analysis of Pol I complex assembly Eukaryotic cell Medium 14555487
2007 Specific point mutations in RPA135 (rpa135-L656P and rpa135-D395N) are lethal in combination with rpa34Δ or rpa49Δ mutations, placing RPA135 in a functional network with Rpa34 and Rpa49 subunits for Pol I transcription. The lobe domain of Rpa135 and the jaw domain of Rpa190 form a jaw-lobe interface critical for Pol I function. Yeast genetic epistasis; synthetic lethality analysis of double mutants; growth assays Molecular and cellular biology Medium 18086878
2007 Mouse Rpo1-2 (POLR1B ortholog) is essential for pre-implantation development. A gene-trap truncation in exon 14 of Rpo1-2 (removing 312 aa from C-terminus) severely impairs rRNA synthesis, causes nucleolus disruption, and triggers apoptotic cell death by the morula stage in homozygous embryos. Gene trap insertional mutagenesis in mice; rRNA synthesis assay; histological analysis of embryos; nucleolar structure analysis Biochemical and biophysical research communications High 18023416
2018 RPA135 (POLR1B) is required for BMH-21-mediated degradation of the largest Pol I subunit RPA194. Pol I preinitiation factors and polymerase subunits including RPA135 are necessary components of the conserved transcription elongation checkpoint activated by BMH-21, which directly impairs Pol I transcription elongation causing long-lived polymerase pausing. Genetic analyses in yeast and human cells; fully reconstituted Pol I transcription assay; small-molecule treatment (BMH-21); subunit dependency analysis Cell reports High 29642000
2019 A super-active Pol I mutant allele RPA135-F301S restores normal rRNA synthesis and increases Pol I density on rDNA genes in the absence of Rpa49. The F301S mutation maps to the jaw-lobe interface of Pol I (lobe in Rpa135, jaw in Rpa190/Rpa12), and Pol I bearing this mutation is hyper-active in an in vitro tailed-template transcription assay, proposed to result from a conformational change supporting DNA insertion into the enzyme cleft. Genetic suppressor screen; rRNA synthesis assay; ChIP (Pol I density on rDNA); in vitro tailed-template transcription assay; structural mapping onto Pol I cryo-EM structure PLoS genetics High 31136569
2019 Pathogenic variants in POLR1B cause Treacher Collins syndrome type 4 (TCS4). Knockdown of polr1b in zebrafish induces abnormal craniofacial phenotype mimicking TCS, associated with altered ribosomal gene expression, massive p53-dependent apoptosis in the neuroepithelium, and reduced number of neural crest cell (NCC) derivatives. Exome sequencing in human patients; zebrafish polr1b morpholino knockdown; craniofacial phenotyping; ribosomal gene expression analysis; apoptosis assay (p53-dependent); NCC derivative quantification Genetics in medicine : official journal of the American College of Medical Genetics High 31649276
2020 RPA135 (POLR1B) silencing causes alterations in the expression and localization of Pol I subunits RPA194. Despite these alterations, the core Pol I complex between RPA194 and RPA135 remains intact upon RPA12 knockdown, and the transcription of Pol I and its engagement with chromatin remain unaffected when RPA12 is silenced. BMH-21-mediated degradation of RPA194 was found to be independent of RPA12. siRNA knockdown of RPA12; immunofluorescence (localization); co-immunoprecipitation (complex integrity); chromatin engagement assay; BMH-21 treatment PloS one Medium 37167337
2023 Homozygous null mutations in Polr1b lead to preimplantation lethality in mice, and Polr1b-/- embryos exhibit defects in nucleolar structure (decreased nucleolar precursor bodies, increased nucleolar volume, single condensed nucleolus), demonstrating that POLR1B/Pol I function and rRNA transcription are required for maintaining nucleolar phase separation properties and integrity during development. Homozygous null mouse mutants (Polr1b-/-); live imaging and nucleolar structure analysis; pharmacological Pol I inhibition in embryos and hiPSCs; viscosity measurements of granular compartment PLoS genetics High 37639467
2023 PAF49 (mammalian orthologue of yeast Rpa34) contains an 'arm' domain that directly interacts with POLR1B (PolR1B). This interaction is required for rDNA transcription; disrupting the PAF49–PolR1B interaction inhibits Pol I transcription in normal and cancer cells, arresting normal cells and killing cancer cells. Auxin-induced degron system for PAF49 degradation; domain deletion analysis; co-immunoprecipitation; rDNA transcription assay; cell growth/viability assays in normal and cancer cells The Journal of biological chemistry High 37356716
2023 In vitro and in vivo analyses of the A34 family (PAF49/Rpa34) show that the 'arm' of A34 intimately interacts with PolR1B, PolR1A, and PolR1C subunits of Pol I as resolved by cryo-EM, placing this interaction at the structural interface of the Pol I complex. In silico structural analysis; cryo-EM structure interpretation; domain mapping Genes Low 39858608
2026 TCS4-associated mutations R1022C and R1022S in Rpa2 (S. pombe POLR1B ortholog) cause Pol I to abnormally accumulate at the 5' region of rDNA, resulting in defective 35S pre-rRNA biogenesis, impaired cell growth under nutrient-rich conditions, and increased sensitivity to BMH-21. Rpa2 protein levels are unaffected, indicating the mutations impair Pol I elongation/progression rather than subunit stability. Introduction of TCS4-associated mutations in S. pombe rpa2; ChIP analysis of Pol I distribution on rDNA; pre-rRNA biogenesis analysis; growth assays; BMH-21 sensitivity assay FEBS open bio Medium 41542823
2026 The SuperPol mutant RPA135-F301S produces 1.5-fold more rRNA than wild-type Pol I in yeast, linked to reduced premature termination of transcription (PTT). In vitro, SuperPol shows reduced nascent transcript cleavage and more efficient transcript elongation after pauses, at the cost of transcriptional fidelity. SuperPol is resistant to BMH-21 and maintains subunit stability under drug treatment, confirming that PTT is the mechanism by which BMH-21 inhibits wild-type Pol I. CRAC (cross-linking and analysis of cDNA); in vitro transcription assay; rRNA quantification; BMH-21 treatment; comparison of WT and RPA135-F301S mutant Pol I eLife High 41677783
2014 A high-frequency interchromosomal interaction occurs between rDNA intergenic spacer (IGS1) and the intergenic region of the RPA135 locus in S. cerevisiae. A 75-bp sequence within the RPA135-tK(CUU)P intergenic region mediates this interaction, which is dependent on rDNA copy number and Msn2 protein. This interaction stabilizes rDNA repeat number and contributes to nucleolar stability, but does not govern RPA135 transcription. Quantitative chromosome conformation capture (qCCC); replacement mapping; rDNA copy number analysis; Msn2 deletion epistasis Molecular and cellular biology Medium 25421713
2010 POLR1B was identified as a novel c-MYC target gene that is downregulated during granulocyte differentiation in concert with loss of c-MYC, and is reinduced in terminally differentiated granulocytes upon MYC-ER transgene activation. c-MYC coordinately regulates POLR1B and other Pol I factors alongside rDNA chromatin remodeling to control ribosomal RNA gene transcription. Gene expression arrays; MYC-ER transgene activation in differentiated granulocytes; Pol I loading on rDNA (ChIP); UBF depletion analysis Nucleic acids research Medium 21177653

Source papers

Stage 0 corpus · 48 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1998 Expansion and contraction of ribosomal DNA repeats in Saccharomyces cerevisiae: requirement of replication fork blocking (Fob1) protein and the role of RNA polymerase I. Genes & development 339 9869636
1991 An approach for isolation of mutants defective in 35S ribosomal RNA synthesis in Saccharomyces cerevisiae. Proceedings of the National Academy of Sciences of the United States of America 82 1871118
2010 c-MYC coordinately regulates ribosomal gene chromatin remodeling and Pol I availability during granulocyte differentiation. Nucleic acids research 81 21177653
2007 Two RNA polymerase I subunits control the binding and release of Rrn3 during transcription. Molecular and cellular biology 71 18086878
1995 A polymerase switch in the synthesis of rRNA in Saccharomyces cerevisiae. Molecular and cellular biology 71 7739526
2019 POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4. Genetics in medicine : official journal of the American College of Medical Genetics 67 31649276
2018 Small-Molecule Targeting of RNA Polymerase I Activates a Conserved Transcription Elongation Checkpoint. Cell reports 58 29642000
2021 Treacher Collins Syndrome: Genetics, Clinical Features and Management. Genes 57 34573374
2020 CRISPR-based gene knockout screens reveal deubiquitinases involved in HIV-1 latency in two Jurkat cell models. Scientific reports 35 32210344
2021 Genetic Susceptibility Loci in Genomewide Association Study of Cluster Headache. Annals of neurology 33 34180076
2020 Long non-coding RNA ZFAS1 promotes colorectal cancer tumorigenesis and development through DDX21-POLR1B regulatory axis. Aging 27 33202381
2023 rRNA transcription is integral to phase separation and maintenance of nucleolar structure. PLoS genetics 25 37639467
2019 Genetic analyses led to the discovery of a super-active mutant of the RNA polymerase I. PLoS genetics 25 31136569
2007 Early pre-implantation lethality in mice carrying truncated mutation in the RNA polymerase 1-2 gene. Biochemical and biophysical research communications 23 18023416
2019 POLR1B is upregulated and promotes cell proliferation in non-small cell lung cancer. Oncology letters 19 31897183
2021 Immune-Omics Networks of CD27, PD1, and PDL1 in Non-Small Cell Lung Cancer. Cancers 17 34503105
2019 Skeletal muscle signaling responses to resistance exercise of the elbow extensors are not compromised by a preceding bout of aerobic exercise. American journal of physiology. Regulatory, integrative and comparative physiology 12 30969843
2023 PAF49: An RNA Polymerase I subunit essential for rDNA transcription and stabilization of PAF53. The Journal of biological chemistry 8 37356716
2014 A sequence-specific interaction between the Saccharomyces cerevisiae rRNA gene repeats and a locus encoding an RNA polymerase I subunit affects ribosomal DNA stability. Molecular and cellular biology 8 25421713
2024 Honey Targets Ribosome Biogenesis Components to Suppress the Growth of Human Pancreatic Cancer Cells. Cancers 7 39410048
2023 Expression of RNA polymerase I catalytic core is influenced by RPA12. PloS one 7 37167337
2023 Alterations in the Epigenetic Machinery Associated with Prostate Cancer Health Disparities. Cancers 7 37444571
2020 Identification of Biomarkers Related to Systemic Sclerosis With or Without Pulmonary Hypertension Using Co-expression Analysis. Journal of computational biology : a journal of computational molecular cell biology 7 32298610
2017 Deciphering alternative splicing and nonsense-mediated decay modulate expression in primary lymphoid tissues of birds infected with avian pathogenic E. coli (APEC). BMC genetics 7 28270101
2020 The effects of p53 gene inactivation on mutant proteome expression in a human melanoma cell model. Biochimica et biophysica acta. General subjects 5 32866596
2010 Integrated genomics of susceptibility to alkylator-induced leukemia in mice. BMC genomics 5 21080971
2023 Characteristics of ABCC4 and ABCG2 High Expression Subpopulations in CRC-A New Opportunity to Predict Therapy Response. Cancers 4 38067326
2021 A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4. Molecular syndromology 4 34012383
2003 Role of second-largest RNA polymerase I subunit Zn-binding domain in enzyme assembly. Eukaryotic cell 4 14555487
2025 XGB-BIF: An XGBoost-Driven Biomarker Identification Framework for Detecting Cancer Using Human Genomic Data. International journal of molecular sciences 3 40565055
2024 Molecular and Clinical Heterogeneity in Hungarian Patients with Treacher Collins Syndrome-Identification of Two Novel Mutations by Next-Generation Sequencing. International journal of molecular sciences 3 39518953
2023 Clinical and molecular study of Egyptian patients with Treacher Collins syndrome. Clinical dysmorphology 2 37646764
2026 Ribosomal RNA synthesis by RNA polymerase I is subject to premature termination of transcription. eLife 1 41677783
2025 Dissection of the gene regulatory network underlying sexual maturity divergence in Jining Bairi chickens through integrated RNA-seq and WGCNA analysis. Poultry science 1 40769016
2024 Analysis of weighted gene co-expression networks and clinical validation identify hub genes and immune cell infiltration in the endometrial cells of patients with recurrent implantation failure. Frontiers in genetics 1 38645487
2023 ZBTB34 is a hepatocellular carcinoma-associated protein with a monopartite nuclear localization signal. Aging 1 37650557
2026 Ubiquitination of Oncogenic Mutant p53 via Attenuation of Ribosome Biogenesis Machinery Effectively Inhibits Pancreatic Tumor Growth. Molecular cancer therapeutics 0 41053975
2026 Analysis of Treacher Collins syndrome 4-associated mutations in Schizosaccharomyces pombe. FEBS open bio 0 41542823
2026 Genetic and Molecular Characterization of Treacher Collins Syndrome in Three Mexican Families. International journal of molecular sciences 0 41752027
2026 Congenital Temporomandibular Joint Ankylosis: Investigating Potential Genetic Etiologies with Whole Exome Sequencing. Journal of clinical medicine 0 41753091
2026 Multi-omics identification of a programmed cell death-related signature and potential target P4HB for bladder cancer based on a 101-combination machine learning and experimental validation. Clinical and experimental medicine 0 41925913
2025 Evolutionary and Structural Insights into the RNA Polymerase I A34 Protein Family: A Focus on Intrinsic Disorder and Phase Separation. Genes 0 39858608
2025 Exploration of common pathogenic genes between cerebral amyloid angiopathy and insomnia based on bioinformatics and experimental validation. Scientific reports 0 40685483
2025 Multi-Target Synergy Against Acute Lung Injury: Systems Pharmacology Decoding Dahuang-Huangqin Herb Pair's Therapeutic Mechanism. Journal of inflammation research 0 40703642
2025 PCR-RFLP assays to detect recessive lethal alleles in Landrace and Duroc pigs in Vietnam. Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc 0 40772539
2025 Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome. HGG advances 0 41017149
2025 Case Report: A novel heterozygous variant of the TCOF1 gene in Treacher Collins syndrome. Frontiers in pediatrics 0 41036210
2024 Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report. Balkan journal of medical genetics : BJMG 0 38482256

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