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
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
March-2025 Volume 31 Issue 3

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
March-2025 Volume 31 Issue 3

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

RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia

  • Authors:
    • Jian Gao
    • Junge Zheng
    • Shiguo Chen
    • Sheng Lin
    • Shan Duan
  • View Affiliations / Copyright

    Affiliations: Laboratory of Molecular Medicine, Institute of Maternal and Child Medicine Research, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518040, P.R. China, Laboratory of Medical Genetics, Shenzhen Health Development Research and Data Management Center, Shenzhen, Guangdong 518028, P.R. China
    Copyright: © Gao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 81
    |
    Published online on: January 27, 2025
       https://doi.org/10.3892/mmr.2025.13446
  • 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

Cartilage‑hair hypoplasia (CHH) is an autosomal recessive form of metaphyseal chondrodysplasia caused by RNA component of mitochondrial RNA processing endoribonuclease (RMRP) gene variants; however, its molecular etiology remains unclear. Whole‑exome sequencing was performed to detect possible pathogenic variants in a patient with a typical short stature and sparse hair. A co‑segregation analysis was also conducted and variants in the family members of the patient were confirmed by Sanger sequencing. A novel compound heterozygous variant in RMRP (NR_003051.4: n.‑21_‑2dup and n.197C>T) was identified in the affected patient. Data from 2 years and 4 months of follow‑up showed a positive effect of growth hormone (GH) therapy on height. Subsequently, two gene expression profiles associated with CHH were obtained from the EMBL‑EBI ENA and ArrayExpress databases. Differentially expressed genes between patients with CHH and healthy controls were selected using R software and were subjected to core analysis using ingenuity pathway analysis (IPA) software. IPA core analysis showed that the ‘cell cycle checkpoints’ was the most prominent canonical pathway, and the top enriched diseases and functions included various types of cancer, immunological diseases, development disorders and respiratory diseases. The integrative analysis displayed that RMRP can regulate the aberrant expression of downstream targets mainly via the transcription factor TP53, which results in the inhibition of ‘cell cycle checkpoints’; eventually, functions associated with the CHH phenotype, such as ‘growth failure or short stature’ are activated. In conclusion, novel disease‑causing genetic variants of RMRP expand the genetic etiology of CHH, which must be clinically differentiated from achondroplasia. The findings of the present study provide new insights into the mechanisms underlying CHH.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Online Mendelian Inheritance in Man and OMIM®, . MIM Number: 250250. Johns Hopkins University; Baltimore, MD, USA: https://omim.org/entry/250250October 16–2022

2 

Hussen BM, Azimi T, Hidayat HJ, Taheri M and Ghafouri-Fard S: Long non-coding RNA RMRP in the pathogenesis of human disorders. Front Cell Dev Biol. 9:6765882021. View Article : Google Scholar : PubMed/NCBI

3 

Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM and Notarangelo LD: Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. J Allergy Clin Immunol. 122:1178–1184. 2008. View Article : Google Scholar : PubMed/NCBI

4 

Vakkilainen S, Taskinen M, Klemetti P, Pukkala E and Mäkitie O: A 30-year prospective follow-up study reveals risk factors for early death in cartilage-hair hypoplasia. Front Immunol. 10:15812019. View Article : Google Scholar : PubMed/NCBI

5 

Vakkilainen S, Klemetti P, Martelius T, Seppänen MJ, Mäkitie O and Toiviainen-Salo S: Pulmonary follow-up imaging in cartilage-hair hypoplasia: A prospective cohort study. J Clin Immunol. 41:1064–1071. 2021. View Article : Google Scholar : PubMed/NCBI

6 

Mattijssen S, Welting TJ and Pruijn GJ: RNase MRP and disease. Wiley Interdiscip Rev RNA. 1:102–116. 2010. View Article : Google Scholar : PubMed/NCBI

7 

Thiel CT and Rauch A: The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab. 25:131–142. 2011. View Article : Google Scholar : PubMed/NCBI

8 

Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B and Leroy JG: RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A. 140:2121–2130. 2006. View Article : Google Scholar : PubMed/NCBI

9 

Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, et al: Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell. 104:195–203. 2001. View Article : Google Scholar : PubMed/NCBI

10 

Robertson N, Shchepachev V, Wright D, Turowski TW, Spanos C, Helwak A, Zamoyska R and Tollervey D: A disease-linked lncRNA mutation in RNase MRP inhibits ribosome synthesis. Nat Commun. 13:6492022. View Article : Google Scholar : PubMed/NCBI

11 

Thiel CT, Mortier G, Kaitila I, Reis A and Rauch A: Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 81:519–529. 2007. View Article : Google Scholar : PubMed/NCBI

12 

Tan R; BC Children's Hospital Members, ; Rozmus J, Turvey SE and Biggs CM: Homozygous RMRP promoter duplications cause severely reduced transcript abundance and SCID associated with cartilage hair hypoplasia. J Clin Immunol. 43:1139–1142. 2023. View Article : Google Scholar : PubMed/NCBI

13 

Nakashima E, Tran JR, Welting TJM, Pruijn GJM, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, et al: Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. Am J Med Genet A. 143A:2675–2681. 2007. View Article : Google Scholar : PubMed/NCBI

14 

Vakkilainen S, Skoog T, Einarsdottir E, Middleton A, Pekkinen M, Öhman T, Katayama S, Krjutškov K, Kovanen PE, Varjosalo M, et al: The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2. Sci Rep. 9:137582019. View Article : Google Scholar : PubMed/NCBI

15 

Chabronova A, van den Akker GGH, Meekels-Steinbusch MMF, Friedrich F, Cremers A, Surtel DAM, Peffers MJ, van Rhijn LW, Lausch E, Zabel B, et al: Uncovering pathways regulating chondrogenic differentiation of CHH fibroblasts. Noncoding RNA Res. 6:211–224. 2021. View Article : Google Scholar : PubMed/NCBI

16 

Krämer A, Green J, Pollard J Jr and Tugendreich S: Causal analysis approaches in ingenuity pathway analysis. Bioinformatics. 30:523–530. 2014. View Article : Google Scholar : PubMed/NCBI

17 

Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, et al: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American college of medical genetics and genomics (ACMG). Genet Med. 24:1407–1414. 2022. View Article : Google Scholar : PubMed/NCBI

18 

Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Gordon AS, Harrison SM, Hershberger RE, et al: ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American college of medical genetics and genomics (ACMG). Genet Med. 25:1008662023. View Article : Google Scholar : PubMed/NCBI

19 

Crooks GE, Hon G, Chandonia JM and Brenner SE: WebLogo: A sequence logo generator. Genome Res. 14:1188–1190. 2004. View Article : Google Scholar : PubMed/NCBI

20 

Dilmac S, Kuscu N, Caner A, Yildirim S, Yoldas B, Farooqi AA and Tanriover G: SIRT1/FOXO signaling pathway in breast cancer progression and metastasis. Int J Mol Sci. 23:102272022. View Article : Google Scholar : PubMed/NCBI

21 

Harada D, Yamanaka Y, Ueda K, Shimizu J, Inoue M, Seino Y and Tanaka H: An effective case of growth hormone treatment on cartilage-hair hypoplasia. Bone. 36:317–322. 2005. View Article : Google Scholar : PubMed/NCBI

22 

Ridanpää M, Sistonen P, Rockas S, Rimoin DL, Mäkitie O and Kaitila I: Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A->G mutation of the untranslated RMRP. Eur J Hum Genet. 10:439–447. 2002. View Article : Google Scholar : PubMed/NCBI

23 

Bonafé L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A and Reymond A: Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PLoS Genet. 1:e472005. View Article : Google Scholar : PubMed/NCBI

24 

Bonafé L, Schmitt K, Eich G, Giedion A and Superti-Furga A: RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms. Clin Genet. 61:146–151. 2002. View Article : Google Scholar : PubMed/NCBI

25 

Gomes ME, Calatrava Paternostro L, Moura VR, Antunes D, Caffarena ER, Horovitz D, Sanseverino MT, Ferraz Leal G, Felix TM, Pontes Cavalcanti D, et al: Identification of novel and recurrent RMRP variants in a series of brazilian patients with cartilage-hair hypoplasia: McKusick syndrome. Mol Syndromol. 10:255–263. 2020. View Article : Google Scholar : PubMed/NCBI

26 

Hunt SE, Moore B, Amode RM, Armean IM, Lemos D, Mushtaq A, Parton A, Schuilenburg H, Szpak M, Thormann A, et al: Annotating and prioritizing genomic variants using the ensembl variant effect predictor-A tutorial. Hum Mutat. 43:986–997. 2022. View Article : Google Scholar : PubMed/NCBI

27 

Vakkilainen S, Mäkitie R, Klemetti P, Valta H, Taskinen M, Husebye ES and Mäkitie O: A wide spectrum of autoimmune manifestations and other symptoms suggesting immune dysregulation in patients with cartilage-hair hypoplasia. Front Immunol. 9:24682018. View Article : Google Scholar : PubMed/NCBI

28 

Gamliel A, Lee YN, Lev A, AbuZaitun O, Rechavi E, Levy S, Simon AJ and Somech R: Immunologic heterogeneity in 2 cartilage-hair hypoplasia patients with a distinct clinical course. J Investig Allergol Clin Immunol. 33:263–270. 2022. View Article : Google Scholar : PubMed/NCBI

29 

Vakkilainen S, Taskinen M and Mäkitie O: Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management. Scand J Immunol. 92:e129132020. View Article : Google Scholar : PubMed/NCBI

30 

Hermanns P, Bertuch AA, Bertin TK, Dawson B, Schmitt ME, Shaw C, Zabel B and Lee B: Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet. 14:3723–3740. 2005. View Article : Google Scholar : PubMed/NCBI

31 

Yeganeh M and Hernandez N: RNA polymerase III transcription as a disease factor. Genes Dev. 34:865–882. 2020. View Article : Google Scholar : PubMed/NCBI

32 

Vaddavalli PL and Schumacher B: The p53 network: Cellular and systemic DNA damage responses in cancer and aging. Trends Genet. 38:598–612. 2022. View Article : Google Scholar : PubMed/NCBI

33 

Levine AJ: p53: 800 Million years of evolution and 40 years of discovery. Nat Rev Cancer. 20:471–480. 2020. View Article : Google Scholar : PubMed/NCBI

34 

Salvador G, Sanmarti R, Garcia-Peiró A, Rodríguez-Cros JR, Muñoz-Gómez J and Cañete JD: p53 expression in rheumatoid and psoriatic arthritis synovial tissue and association with joint damage. Ann Rheum Dis. 64:183–187. 2005. View Article : Google Scholar : PubMed/NCBI

35 

Taghadosi M, Adib M, Jamshidi A, Mahmoudi M and Farhadi E: The p53 status in rheumatoid arthritis with focus on fibroblast-like synoviocytes. Immunol Res. 69:225–238. 2021. View Article : Google Scholar : PubMed/NCBI

36 

Xiao CY, Pan YF, Guo XH, Wu YQ, Gu JR and Cai DZ: Expression of β-catenin in rheumatoid arthritis fibroblast-like synoviocytes. Scand J Rheumatol. 40:26–33. 2011. View Article : Google Scholar : PubMed/NCBI

37 

Sun X, Zhang R, Liu M, Chen H, Chen L, Luo F, Zhang D, Huang J, Li F, Ni Z, et al: Rmrp mutation disrupts chondrogenesis and bone ossification in zebrafish model of cartilage-hair hypoplasia via enhanced Wnt/β-catenin signaling. J Bone Miner Res. 34:2101–2116. 2019. View Article : Google Scholar : PubMed/NCBI

38 

Ruscitto A, Chen P, Tosa I, Wang Z, Zhou G, Safina I, Wei R, Morel MM, Koch A, Forman M, et al: Lgr5-expressing secretory cells form a Wnt inhibitory niche in cartilage critical for chondrocyte identity. Cell Stem Cell. 30:1179–1198.e7. 2023. View Article : Google Scholar : PubMed/NCBI

39 

Ding L, Jiang Z, Wu J, Li D, Wang H, Lu W, Zeng Q and Xu G: β-catenin signaling inhibits cartilage endplate chondrocyte homeostasis in vitro. Mol Med Rep. 20:567–572. 2019.PubMed/NCBI

40 

Xuan F, Yano F, Mori D, Chijimatsu R, Maenohara Y, Nakamoto H, Mori Y, Makii Y, Oichi T, Taketo MM, et al: Wnt/β-catenin signaling contributes to articular cartilage homeostasis through lubricin induction in the superficial zone. Arthritis Res Ther. 21:2472019. View Article : Google Scholar : PubMed/NCBI

41 

Bolduc JA, Collins JA and Loeser RF: Reactive oxygen species, aging and articular cartilage homeostasis. Free Radic Biol Med. 132:73–82. 2019. View Article : Google Scholar : PubMed/NCBI

42 

Usher KM, Zhu S, Mavropalias G, Carrino JA, Zhao J and Xu J: Pathological mechanisms and therapeutic outlooks for arthrofibrosis. Bone Res. 7:92019. View Article : Google Scholar : PubMed/NCBI

43 

Zhang W, Robertson WB, Zhao J, Chen W and Xu J: Emerging trend in the pharmacotherapy of osteoarthritis. Front Endocrinol (Lausanne). 10:4312019. View Article : Google Scholar : PubMed/NCBI

44 

Gu J, Rao W, Huo S, Fan T, Qiu M, Zhu H, Chen D and Sheng X: MicroRNAs and long non-coding RNAs in cartilage homeostasis and osteoarthritis. Front Cell Dev Biol. 10:10927762022. View Article : Google Scholar : PubMed/NCBI

45 

Young DA, Barter MJ and Soul J: Osteoarthritis year in review: Genetics, genomics, epigenetics. Osteoarthritis Cartilage. 30:216–225. 2022. View Article : Google Scholar : PubMed/NCBI

46 

Zhu J, Yu W, Wang Y, Xia K, Huang Y, Xu A, Chen Q, Liu B, Tao H, Li F and Liang C: lncRNAs: Function and mechanism in cartilage development, degeneration, and regeneration. Stem Cell Res Ther. 10:3442019. View Article : Google Scholar : PubMed/NCBI

47 

Steinbusch MMF, Caron MMJ, Surtel DAM, Friedrich F, Lausch E, Pruijn GJM, Verhesen W, Schroen BLM, van Rhijn LW, Zabel B and Welting TJM: Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation. Sci Rep. 7:64402017. View Article : Google Scholar : PubMed/NCBI

48 

Rogler LE, Kosmyna B, Moskowitz D, Bebawee R, Rahimzadeh J, Kutchko K, Laederach A, Notarangelo LD, Giliani S, Bouhassira E, et al: Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. Hum Mol Genet. 23:368–382. 2014. View Article : Google Scholar : PubMed/NCBI

49 

Milacic M, Beavers D, Conley P, Gong C, Gillespie M, Griss J, Haw R, Jassal B, Matthews L, May B, et al: The reactome pathway knowledgebase 2024. Nucleic Acids Res. 52(D1): D672–D678. 2024. View Article : Google Scholar : PubMed/NCBI

50 

Li S, Wang L, Wang Y, Zhang C, Hong Z and Han Z: The synthetic lethality of targeting cell cycle checkpoints and PARPs in cancer treatment. J Hematol Oncol. 15:1472022. View Article : Google Scholar : PubMed/NCBI

51 

Matthews HK, Bertoli C and de Bruin RAM: Cell cycle control in cancer. Nat Rev Mol Cell Biol. 23:74–88. 2022. View Article : Google Scholar : PubMed/NCBI

52 

Obara-Moszynska M, Wielanowska W, Rojek A, Wolnik-Brzozowska D and Niedziela M: Treatment of cartilage-hair hypoplasia with recombinant human growth hormone. Pediatr Int. 55:e162–e164. 2013. View Article : Google Scholar : PubMed/NCBI

53 

Hokken-Koelega ACS, van der Steen M, Boguszewski MCS, Cianfarani S, Dahlgren J, Horikawa R, Mericq V, Rapaport R, Alherbish A, Braslavsky D, et al: International consensus guideline on small for gestational age: Etiology and management from infancy to early adulthood. Endocr Rev. 44:539–565. 2023. View Article : Google Scholar : PubMed/NCBI

54 

Capital Institute of Pediatrics and The Coordinating Study Group of Nine Cities on the Physical Growth and Development of Children, . A national survey on physical growth and development of children under seven years of age in nine cities of China in 2015. Zhonghua Er Ke Za Zhi. 56:192–199. 2018.(In Chinese). PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Gao J, Zheng J, Chen S, Lin S and Duan S: RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia. Mol Med Rep 31: 81, 2025.
APA
Gao, J., Zheng, J., Chen, S., Lin, S., & Duan, S. (2025). RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia. Molecular Medicine Reports, 31, 81. https://doi.org/10.3892/mmr.2025.13446
MLA
Gao, J., Zheng, J., Chen, S., Lin, S., Duan, S."RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia". Molecular Medicine Reports 31.3 (2025): 81.
Chicago
Gao, J., Zheng, J., Chen, S., Lin, S., Duan, S."RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia". Molecular Medicine Reports 31, no. 3 (2025): 81. https://doi.org/10.3892/mmr.2025.13446
Copy and paste a formatted citation
x
Spandidos Publications style
Gao J, Zheng J, Chen S, Lin S and Duan S: RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia. Mol Med Rep 31: 81, 2025.
APA
Gao, J., Zheng, J., Chen, S., Lin, S., & Duan, S. (2025). RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia. Molecular Medicine Reports, 31, 81. https://doi.org/10.3892/mmr.2025.13446
MLA
Gao, J., Zheng, J., Chen, S., Lin, S., Duan, S."RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia". Molecular Medicine Reports 31.3 (2025): 81.
Chicago
Gao, J., Zheng, J., Chen, S., Lin, S., Duan, S."RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia". Molecular Medicine Reports 31, no. 3 (2025): 81. https://doi.org/10.3892/mmr.2025.13446
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