Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Biomedical Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 2049-9434 Online ISSN: 2049-9442
Journal Cover
November-2025 Volume 23 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
November-2025 Volume 23 Issue 5

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β‑catenin

  • Authors:
    • Qingqing Chen
    • Yonghua Chen
    • Chaochun Zou
    • Chunlin Wang
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, P.R. China, Department of Pediatrics, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, P.R. China
    Copyright: © Chen et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 172
    |
    Published online on: September 4, 2025
       https://doi.org/10.3892/br.2025.2050
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Cornelia de Lange Syndrome (CdLS) is a prevalent chromatinopathy, frequently caused by mutations in genes encoding cohesin complex components, with NIPBL being the most commonly affected. The present study aimed to investigate the effects of a 5'‑untranslated region (UTR) mutation (c.‑467C>T) in the NIPBL gene on gene expression and cohesin complex integrity. Using CRISPR/Cas9 technology, a heterozygous cell line harboring the NIPBL 5'‑UTR mutation was generated. A combination of molecular biology techniques, including RNA secondary structure prediction and luciferase reporter assays, was employed to evaluate the effect of the mutation. These findings indicated that the 5'‑UTR mutation introduces an additional upstream open reading frame, leading to diminished expression levels of NIPBL protein. This decrease was associated with downregulation of RAD21, a pivotal component of the cohesin complex, and reduced β‑catenin levels, thereby affecting cell proliferation. The present study elucidates the significance of 5'‑UTR elements in regulating gene expression and the potential consequences of sequence variations within this region, demonstrating that a 5'‑UTR mutation in NIPBL contributes to CdLS by disrupting gene expression and cellular processes. These results advance the understanding of the molecular mechanisms underlying CdLS.
View Figures

Figure 1

Impact of 5'-UTR mutation on uORFs.
(A) Identification and comparison of uORFs between the WT and mut
variants of the 5'-UTR of the NIPBL gene. (B) Kozak sequence
within the 5'-UTR of the mut variant of the NIPBL gene. (C)
Predicted secondary structures of the RNA for the mutated 5'-UTR of
the NIPBL gene, and the WT RNA predicted secondary structure
is shown on the left and the mut structure on the right. UTR,
untranslated region; uORF, upstream open reading frame; WT,
wild-type; mut, mutant.

Figure 2

5'-untranslated region mutation of
the NIPBL gene affects expression. (A) Schematic
illustration depicting the generation of NIPBL-mut cells
using the CRISPR/Cas9 System. (B) Luciferase reporter assay
measuring the transcriptional activity of the NIPBL gene in
WT vs. mutant groups. (C) Western blot comparing NIPBL protein
levels in WT and mut cells. (D) Immunofluorescence staining of
NIPBL in wild-type and mutant cells; nuclei were counterstained
with DAPI (blue). Fluorescence intensity was quantified and
normalized to the WT level. Scale bar, 100 µm. Data are presented
as the mean ± SEM and the value of NIPBL-WT was normalized as 100%.
**P<0.01. WT, wild-type; mut, mutant.

Figure 3

Cohesin complex integrity. (A) RAD21
protein levels in WT and mut cells. (B) Western blot analysis of
cohesin complex proteins (NIPBL, RAD21 and SMC1A) in cytoplasmic
(Cyto) and nuclear (Nuc) fractions of wild-type and mutant cells.
Data are presented as the mean ± SEM and the value of NIPBL-WT was
normalized as 100%. *P<0.05. WT, wild-type; mut,
mutant; ns, not significant.

Figure 4

NIPBL downregulation reduces
β-catenin levels, thereby affecting cell proliferation. (A) EdU
assays assessing proliferation in WT and NIPBL-mut cells;
EdU-positive nuclei were quantified and normalized to total DAPI
counts. Scale bar, 100 µm. (B) Total β-catenin protein levels in WT
and mut cells. (C) Subcellular β-catenin levels in WT and mut cells
(cytoplasmic vs. nuclear fractions). Data are presented as the mean
± SEM and the value of NIPBL-WT was normalized as 100%.
*P<0.05, **P<0.01 and
***P<0.001. WT, wild-type; mut, mutant; ns, not
significant.
View References

1 

Garcia P, Fernandez-Hernandez R, Cuadrado A, Coca I, Gomez A, Maqueda M, Latorre-Pellicer A, Puisac B, Ramos FJ, Sandoval J, et al: Disruption of NIPBL/Scc2 in cornelia de lange syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome. Nat Commun. 12(4551)2021.PubMed/NCBI View Article : Google Scholar

2 

Caplan IF, Ye M and Pearlman AN: Management of nasal polyposis in pediatric patients with cornelia de lange syndrome: A case series and literature review. Ear Nose Throat J: Sep 24, 2024 (Epub ahead of print).

3 

Parenti I and Kaiser FJ: Cornelia de lange syndrome as paradigm of chromatinopathies. Front Neurosci. 15(774950)2021.PubMed/NCBI View Article : Google Scholar

4 

Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, et al: MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause cornelia de lange syndrome. Cell Rep. 31(107647)2020.PubMed/NCBI View Article : Google Scholar

5 

Lucia-Campos C, Parenti I, Latorre-Pellicer A, Gil-Salvador M, Bestetti I, Finelli P, Larizza L, Arnedo M, Ayerza-Casas A, Del Rincón J, et al: An intragenic duplication in the AFF2 gene associated with cornelia de lange syndrome phenotype. Front Genet. 15(1472543)2024.PubMed/NCBI View Article : Google Scholar

6 

Shangguan H and Chen R: Phenotypes of cornelia de lange syndrome caused by non-cohesion genes: Novel variants and literature review. Front Pediatr. 10(940294)2022.PubMed/NCBI View Article : Google Scholar

7 

Coursimault J, Rovelet-Lecrux A, Cassinari K, Brischoux-Boucher E, Saugier-Veber P, Goldenberg A, Lecoquierre F, Drouot N, Richard AC, Vera G, et al: uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of cornelia de lange syndrome. Hum Mutat. 43:1239–1248. 2022.PubMed/NCBI View Article : Google Scholar

8 

Schuster K, Leeke B, Meier M, Wang Y, Newman T, Burgess S and Horsfield JA: A neural crest origin for cohesinopathy heart defects. Hum Mol Genet. 24:7005–7016. 2015.PubMed/NCBI View Article : Google Scholar

9 

Teresa-Rodrigo ME, Eckhold J, Puisac B, Pozojevic J, Parenti I, Baquero-Montoya C, Gil-Rodríguez MC, Braunholz D, Dalski A, Hernández-Marcos M, et al: Identification and functional characterization of two intronic NIPBL mutations in two patients with cornelia de lange syndrome. Biomed Res Int. 2016(8742939)2016.PubMed/NCBI View Article : Google Scholar

10 

Chen Y, Chen Q, Yuan K, Zhu J, Fang Y, Yan Q and Wang C: A novel de novo variant in 5' UTR of the NIPBL associated with cornelia de lange syndrome. Genes (Basel). 13(740)2022.PubMed/NCBI View Article : Google Scholar

11 

Wieder N, D'Souza EN, Martin-Geary AC, Lassen FH, Talbot-Martin J, Fernandes M, Chothani SP, Rackham OJL, Schafer S, Aspden JL, et al: Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes. Genome Biol. 25(111)2024.PubMed/NCBI View Article : Google Scholar

12 

Zhang S, Übelmesser N, Josipovic N, Forte G, Slotman JA, Chiang M, Gothe HJ, Gusmao EG, Becker C, Altmüller J, et al: RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis. Sci Adv. 7(eabg8205)2021.PubMed/NCBI View Article : Google Scholar

13 

Vitoria M, Landwerlin P, Diebold-Durand ML, Shaik TB, Durand A, Troesch E, Weber C, Brillet K, Lemée MV, Decroos C, et al: The cohesin ATPase cycle is mediated by specific conformational dynamics and interface plasticity of SMC1A and SMC3 ATPase domains. Cell Rep. 43(114656)2024.PubMed/NCBI View Article : Google Scholar

14 

Panarotto M, Davidson IF, Litos G, Schleiffer A and Peters JM: Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion. Proc Natl Acad Sci USA. 119(e2201029119)2022.PubMed/NCBI View Article : Google Scholar

15 

Xu W, Ying Y, Shan L, Feng J, Zhang S, Gao Y, Xu X, Yao Y, Zhu C and Mao W: Enhanced expression of cohesin loading factor NIPBL confers poor prognosis and chemotherapy resistance in non-small cell lung cancer. J Transl Med. 13(153)2015.PubMed/NCBI View Article : Google Scholar

16 

Higashi TL, Eickhoff P, Sousa JS, Locke J, Nans A, Flynn HR, Snijders AP, Papageorgiou G, O'Reilly N, Chen ZA, et al: A structure-based mechanism for DNA entry into the cohesin ring. Mol Cell. 79:917–933.e9. 2020.PubMed/NCBI View Article : Google Scholar

17 

Rinaldi L, Fettweis G, Kim S, Garcia DA, Fujiwara S, Johnson TA, Tettey TT, Ozbun L, Pegoraro G, Puglia M, et al: The glucocorticoid receptor associates with the cohesin loader NIPBL to promote long-range gene regulation. Sci Adv. 8(eabj8360)2022.PubMed/NCBI View Article : Google Scholar

18 

Weiss FD, Calderon L, Wang YF, Georgieva R, Guo Y, Cvetesic N, Kaur M, Dharmalingam G, Krantz ID, Lenhard B, et al: Neuronal genes deregulated in cornelia de lange syndrome respond to removal and re-expression of cohesin. Nat Commun. 12(2919)2021.PubMed/NCBI View Article : Google Scholar

19 

Luna-Peláez N, March-Díaz R, Ceballos-Chávez M, Guerrero-Martínez JA, Grazioli P, García-Gutiérrez P, Vaccari T, Massa V, Reyes JC and García-Domínguez M: The cornelia de lange syndrome-associated factor NIPBL interacts with BRD4 ET domain for transcription control of a common set of genes. Cell Death Dis. 10(548)2019.PubMed/NCBI View Article : Google Scholar

20 

Fallmann J, Will S, Engelhardt J, Grüning B, Backofen R and Stadler PF: Recent advances in RNA folding. J Biotechnol. 261:97–104. 2017.PubMed/NCBI View Article : Google Scholar

21 

Ambrosini C, Destefanis E, Kheir E, Broso F, Alessandrini F, Longhi S, Battisti N, Pesce I, Dassi E, Petris G, et al: Translational enhancement by base editing of the Kozak sequence rescues haploinsufficiency. Nucleic Acids Res. 50:10756–10771. 2022.PubMed/NCBI View Article : Google Scholar

22 

Whiffin N, Karczewski KJ, Zhang X, Chothani S, Smith MJ, Evans DJ, Roberts AM, Quaife NM, Schafer S, Rackham O, et al: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nat Commun. 11(2523)2020.PubMed/NCBI View Article : Google Scholar

23 

Mills JA, Herrera PS, Kaur M, Leo L, McEldrew D, Tintos-Hernandez JA, Rajagopalan R, Gagne A, Zhang Z, Ortiz-Gonzalez XR and Krantz ID: NIPBL(+/-) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states. Sci Rep. 8(1056)2018.PubMed/NCBI View Article : Google Scholar

24 

Alonso-Gil D, Cuadrado A, Giménez-Llorente D, Rodríguez-Corsino M and Losada A: Different NIPBL requirements of cohesin-STAG1 and cohesin-STAG2. Nat Commun. 14(1326)2023.PubMed/NCBI View Article : Google Scholar

25 

Newkirk DA, Chen YY, Chien R, Zeng W, Biesinger J, Flowers E, Kawauchi S, Santos R, Calof AL, Lander AD, et al: The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: Modeling cornelia de lange syndrome. Clin Epigenetics. 9(89)2017.PubMed/NCBI View Article : Google Scholar

26 

Mannini L, C Lamaze F, Cucco F, Amato C, Quarantotti V, Rizzo IM, Krantz ID, Bilodeau S and Musio A: Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome. Sci Rep. 5(16803)2015.PubMed/NCBI View Article : Google Scholar

27 

Xu X, Wang D, Xu W, Li H, Chen N, Li N, Yao Q, Chen W, Zhong J and Mao W: Author Correction: NIPBL-mediated RAD21 facilitates tumorigenicity by the PI3K pathway in non-small-cell lung cancer. Commun Biol. 7(397)2024.PubMed/NCBI View Article : Google Scholar

28 

Pileggi S, La Vecchia M, Colombo EA, Fontana L, Colapietro P, Rovina D, Morotti A, Tabano S, Porta G, Alcalay M, et al: Cohesin mutations induce chromatin conformation perturbation of the H19/IGF2 imprinted region and gene expression dysregulation in cornelia de lange syndrome cell lines. Biomolecules. 11(1622)2021.PubMed/NCBI View Article : Google Scholar

29 

Avagliano L, Parenti I, Grazioli P, Di Fede E, Parodi C, Mariani M, Kaiser FJ, Selicorni A, Gervasini C and Massa V: Chromatinopathies: A focus on Cornelia de Lange syndrome. Clin Genet. 97:3–11. 2020.PubMed/NCBI View Article : Google Scholar

30 

De Falco A, De Brasi D, Della Monica M, Cesario C, Petrocchi S, Novelli A, D'Alterio G, Iolascon A, Capasso M and Piscopo C: A novel variant in RAD21 in cornelia de lange syndrome type 4: Case report and bioinformatic analysis. Genes (Basel). 14(119)2023.PubMed/NCBI View Article : Google Scholar

31 

Yu R, Roseman S, Siegenfeld AP, Gardner Z, Nguyen SC, Tran KA, Joyce EF, Jain R, Liau BB, Krantz ID, et al: CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association. Nat Struct Mol Biol. 32:1069–1080. 2025.PubMed/NCBI View Article : Google Scholar

32 

Yue X, Chen M, Ke X, Yang H, Gong F, Wang L, Duan L, Pan H and Zhu H: Clinical characteristics, genetic analysis, and literature review of cornelia de lange syndrome type 4 associated with a RAD21 variant. Mol Genet Genomic Med. 12(e70009)2024.PubMed/NCBI View Article : Google Scholar

33 

Grazioli P, Parodi C, Mariani M, Bottai D, Di Fede E, Zulueta A, Avagliano L, Cereda A, Tenconi R, Wierzba J, et al: Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome. Cell Death Discov. 7(34)2021.PubMed/NCBI View Article : Google Scholar

34 

Gruca-Stryjak K, Doda-Nowak E, Dzierla J, Wróbel K, Szymankiewicz-Bręborowicz M and Mazela J: Advancing the clinical and molecular understanding of cornelia de lange syndrome: A multidisciplinary pediatric case series and review of the literature. J Clin Med. 13(2423)2024.PubMed/NCBI View Article : Google Scholar

35 

Pallotta MM, Di Nardo M and Musio A: Synthetic lethality between cohesin and WNT signaling pathways in diverse cancer contexts. Cells. 13(608)2024.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Chen Q, Chen Y, Zou C and Wang C: A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin. Biomed Rep 23: 172, 2025.
APA
Chen, Q., Chen, Y., Zou, C., & Wang, C. (2025). A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin. Biomedical Reports, 23, 172. https://doi.org/10.3892/br.2025.2050
MLA
Chen, Q., Chen, Y., Zou, C., Wang, C."A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin". Biomedical Reports 23.5 (2025): 172.
Chicago
Chen, Q., Chen, Y., Zou, C., Wang, C."A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin". Biomedical Reports 23, no. 5 (2025): 172. https://doi.org/10.3892/br.2025.2050
Copy and paste a formatted citation
x
Spandidos Publications style
Chen Q, Chen Y, Zou C and Wang C: A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin. Biomed Rep 23: 172, 2025.
APA
Chen, Q., Chen, Y., Zou, C., & Wang, C. (2025). A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin. Biomedical Reports, 23, 172. https://doi.org/10.3892/br.2025.2050
MLA
Chen, Q., Chen, Y., Zou, C., Wang, C."A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin". Biomedical Reports 23.5 (2025): 172.
Chicago
Chen, Q., Chen, Y., Zou, C., Wang, C."A Cornelia de Lange syndrome NIPBL 5'‑UTR mutation reduces cell proliferation in an <em>in vitro</em> model by downregulating RAD21 and &beta;‑catenin". Biomedical Reports 23, no. 5 (2025): 172. https://doi.org/10.3892/br.2025.2050
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team