ArticleGenetics and molecular biology2019
Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome.
Article in Genetics and molecular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 26 citations in OpenAlex.
- Diffuse alveolar hemorrhage in a pediatric patient with cri du chat syndrome: a case report.Annals of medicine and surgery (2012) · 2026Article
- Establishment and characterization of Cri Du Chat neuronal stem cells: a novel promising resource to study the syndrome.Human cell · 2025Article
- A Hypothesis: Metabolic Contributions to 16p11.2 Deletion Syndrome.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.Children (Basel, Switzerland) · 2024Review
- DNA copy number profiles and systems biology connect chromatin remodeling and DNA repair in high-risk neuroblastoma.Genetics and molecular biology · 2024Article
- Article
- Analysis of potential copy-number variations and genes associated with first-trimester missed abortion.Heliyon · 2023Article
- Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.Molecular syndromology · 2023Article
- Delta-Catenin as a Modulator of Rho GTPases in Neurons.Frontiers in cellular neuroscience · 2022Review
- Embryology, Malformations, and Rare Diseases of the Cochlea.Laryngo- rhino- otologie · 2021Article
- Genetic developmental disability diagnosed in adulthood: a case report.Journal of medical case reports · 2021Article
- Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.Frontiers in genetics · 2021Article
- Abnormal Expression of Mitochondrial Ribosomal Proteins and Their Encoding Genes with Cell Apoptosis and Diseases.International journal of molecular sciences · 2020Review
- Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated theprotein-protein interaction (PPI) network within the critical chromosomal region 5p15.3-p15.2 associated with CdCs using systemsbiology. Data were extracted from cytogenomic findings from patients with CdCs. Based on clinical findings, molecular characterization of chromosomal rearrangements, and systems biology data, we explored possible genotype-phenotype correlations involving biological processes connected with CdCs candidate genes. We identified biological processes involving genes previously found to be associated with CdCs, such as TERT, SLC6A3, and CTDNND2, as well as novel candidate proteins with potential contributions to CdCs phenotypes, including CCT5, TPPP, MED10, ADCY2, MTRR, CEP72, NDUFS6, and MRPL36. Although further functional analyses of these proteins are required, we identified candidate proteins for the development of new multi-target genetic editing tools to study CdCs. Further research may confirm those that are directly involved in the development of CdCs phenotypes and improve our understanding of CdCs-associated molecular mechanisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.