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1.
J Craniofac Surg ; 2024 May 21.
Artigo em Inglês | MEDLINE | ID: mdl-38771195

RESUMO

Intraductal papillomas have been mostly described in minor salivary glands but are extremely rare in the parotid gland. Consequently, limited information is available to guide otolaryngologists and pathologists in managing intraductal papillomas, specifically in the parotid gland. Diagnosing intraductal papillomas in this location poses significant challenges. In this report, the authors present a new case and first conduct a systematic literature review of the intraductal papillomas originating from the parotid gland. This study contributes valuable insights that can improve diagnostic accuracy, providing more precise treatments, and patient outcomes in cases of intraductal papillomas in the parotid gland.

2.
Genes Dis ; 9(1): 268-274, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35005123

RESUMO

Ribosome RNA (rRNA) accounts for more than 80% of the cell's total RNA, while the physiological functions of rRNA modifications are poorly understood. Mutations of 18S rRNA m6A methyltransferase METTL5 cause intellectual disability, microcephaly, and facial dysmorphisms in patients, however, little is known about the underlying mechanisms. In this study, we identified METTL5 protein complex and revealed that METTL5 mainly interacts with RNA binding proteins and ribosome proteins. Functionally, we found that Mettl5 knockout in mESCs leads to the abnormal craniofacial and nervous development. Moreover, using Mettl5 knockout mouse model, we further demonstrated that Mettl5 knockout mice exhibit intellectual disability, recapitulating the human phenotype. Mechanistically, we found that Mettl5 maintains brain function and intelligence by regulating the myelination process. Our study uncovered the causal correlation between mis-regulated 18S rRNA m6A modification and neural function defects, supporting the important physiological functions of rRNA modifications in human diseases.

3.
Mitochondrial DNA A DNA Mapp Seq Anal ; 27(6): 4185-4186, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-25630732

RESUMO

In the present work, we undertook the complete mitochondrial genome sequencing of an important laryngeal cancer model inbred rat strain for the first time. The total length of the mitogenome was 16,308 bp. It harbored 13 protein-coding genes, two ribosomal RNA genes, 22 transfer RNA genes, and one non-coding control region (D-loop region). The mutation events were also reported.


Assuntos
Genoma Mitocondrial , Neoplasias Laríngeas/genética , Neoplasias Experimentais/genética , Animais , Ratos , Ratos Nus
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