Zobrazeno 1 - 10
of 589
pro vyhledávání: '"EXT1"'
Autor:
Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 g
Externí odkaz:
https://doaj.org/article/9b18c72810344e36991efc0b72f3c6ef
Publikováno v:
Translational Oncology, Vol 48, Iss , Pp 102004- (2024)
Circular RNAs (circRNAs) have been reported to be associated with the malignant phenotypes of cancer. However, the role and underlying mechanism of hsa_Circ_0008035 in colorectal cancer (CRC) remains unclear. In this study, we elucidated the pivotal
Externí odkaz:
https://doaj.org/article/35fd60d4f3d145228e9be4b83533c5c0
Autor:
Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea
Publikováno v:
Diseases, Vol 12, Iss 7, p 165 (2024)
Introduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood. Moreover, current studies show a
Externí odkaz:
https://doaj.org/article/7be350909fd44e4898650439d4a63a7f
Autor:
Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani
Publikováno v:
Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Abstract Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1
Externí odkaz:
https://doaj.org/article/0a911331793b4b76a40738f99bf0e9cb
Akademický článek
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Akademický článek
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Publikováno v:
Clinical Case Reports, Vol 10, Iss 9, Pp n/a-n/a (2022)
Abstract To identify the pathogenic gene variation in a Chinese family with Hereditary Multiple Exostoses (HME). By examining blood‐sourced DNA and clinical manifestations of the proband and his family members, the whole exome sequencing (WES) and
Externí odkaz:
https://doaj.org/article/3da96b9c111c4363ac0801a0b3ee8ed6
Autor:
Disheng Wu, Chao Huo, Siyu Jiang, Yanxia Huang, Xuehong Fang, Jun Liu, Min Yang, Jianwei Ren, Bilian Xu, Yi Liu
Publikováno v:
Cancer Medicine, Vol 10, Iss 8, Pp 2787-2801 (2021)
Abstract The exostosin (EXT) protein family is involved in diverse human diseases. However, the expression and prognostic value of EXT genes in human lung squamous cell carcinoma (LUSC) is not well understood. In this study, we analyzed the associati
Externí odkaz:
https://doaj.org/article/3dc3d5d9fda94e3995ead47a93e51dc1
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics perso
Externí odkaz:
https://doaj.org/article/a09ca03b26e24bba9508542aa1b6cce3
Autor:
Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Hereditary Multiple Exostoses (HME), also known as Multiple Osteochondromas (MO) is a rare genetic disorder characterized by multiple benign cartilaginous bone tumors, which are caused by mutations in the genes for exostosin glyco
Externí odkaz:
https://doaj.org/article/e244caec184d480a9e099b3967d703d4