دورية أكاديمية
The multi-omic landscape of sex chromosome abnormalities: current status and future directions
| العنوان: | The multi-omic landscape of sex chromosome abnormalities: current status and future directions |
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| المؤلفون: | Helene Bandsholm Leere Tallaksen, Emma B Johannsen, Jesper Just, Mette Hansen Viuff, Claus H Gravholt, Anne Skakkebæk |
| المصدر: | Endocrine Connections, Vol 12, Iss 9, Pp 1-12 (2023) |
| بيانات النشر: | Bioscientifica, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Diseases of the endocrine glands. Clinical endocrinology |
| مصطلحات موضوعية: | sex chromosome abnormalities, turner syndrome, klinefelter syndrome, genetics, Diseases of the endocrine glands. Clinical endocrinology, RC648-665 |
| الوصف: | Sex chromosome abnormalities (SCAs) are chromosomal disorders with either a complete or partial loss or gain of sex chromosomes. The most frequent SCAs include Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Trisomy X syndrome (47,XXX), and Double Y syndrome (47,XYY). The phenotype seen in SCAs is highly variable and may not merely be due to the direct genomic imbalance from altered sex chromosome gene dosage but also due to additive alterations in gene networks and regulatory pathways across the genome as well as individual genetic modifiers. This review summarizes the current insight into the genomics of SCAs. In addition, future directions of research that can contribute to decipher the genomics of SCA are discussed such as single-cell omics, spatial transcriptomics, system biology thinking, human-induced pluripotent stem cells, and animal models, and how these data may be combined to bridge the gap between genomics and the clinical phenotype. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2049-3614 61407658 |
| Relation: | https://ec.bioscientifica.com/view/journals/ec/12/9/EC-23-0011.xml; https://doaj.org/toc/2049-3614 |
| DOI: | 10.1530/EC-23-0011 |
| URL الوصول: | https://doaj.org/article/df1b9f29e43849e39c614076585dcdff |
| رقم الأكسشن: | edsdoj.f1b9f29e43849e39c614076585dcdff |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20493614 61407658 |
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| DOI: | 10.1530/EC-23-0011 |