المؤلفون: Yuka Takemon, Erin D. Pleasance, Alessia Gagliardi, Christopher S. Hughes, Veronika Csizmok, Kathleen Wee, Diane L. Trinh, Ryan D. Huff, Andrew J. Mungall, Richard A. Moore, Eric Chuah, Karen L. Mungall, Eleanor Lewis, Jessica Nelson, Howard J. Lim, Daniel J. Renouf, Steven JM. Jones, Janessa Laskin, Marco A. Marra

المصدر: Genome Medicine, Vol 16, Iss 1, Pp 1-31 (2024)

مصطلحات موضوعية: Tumour suppressor genes, KMT2D, Genetic networks, Synthetic lethality, WRN inhibitors, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/2954f6a10f424393a3fd559481966131

المؤلفون: Sihui Chen, Yi Jiang, Guoqin Xie, Peng Wu, Jinyu Zhu

المصدر: Frontiers in Genetics, Vol 15 (2025)

مصطلحات موضوعية: KMT2D, osteoporosis, ferroptosis, aging, BMSCs, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1522809/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/86666a37e3d54e7d89047ad3cf5bc458

المؤلفون: Salvatore Michele Carnazzo

المصدر: Euromediterranean Biomedical Journal, Vol 19, Iss 8, Pp 34-40 (2024)

مصطلحات موضوعية: kabuki syndrome (ks), intellectual disability disorder, kmt2d gene, kdm6a gene, facial dysmorphisms, neurological findings, multisystem anomalies, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.embj.org/wp-content/uploads/2024/08/Carnazzo_08.pdf; https://doaj.org/toc/2279-7165

URL الوصول: https://doaj.org/article/f9a48215563c410fbd992fbc66089686

المؤلفون: Mariya Levkova, Milena Stoyanova, Mari Hachmeriyan

المصدر: Romanian Journal of Pediatrics, Vol 73, Iss 3, Pp 99-102 (2024)

مصطلحات موضوعية: kabuki syndrome, kmt2d, dysmorphic features, genetic counseling, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://rjp.com.ro/articles/2024.2/RJP_2024_2_Art-09.pdf; https://doaj.org/toc/1454-0398; https://doaj.org/toc/2069-6175

URL الوصول: https://doaj.org/article/3be4a843a9c24e9b9df40b64509ddc61

المؤلفون: Zhichun Zhang, Yanyan Guo, Xuejun Gao, Xiaoyan Wang, Chanyuan Jin

المصدر: Regenerative Therapy, Vol 26, Iss , Pp 775-782 (2024)

مصطلحات موضوعية: Marrow mesenchymal stem cell, Osteogenesis, KMT2D, AKT signaling, Histone methyltransferase, Medicine (General), R5-920, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352320424001603; https://doaj.org/toc/2352-3204

URL الوصول: https://doaj.org/article/9eb636875c48482ead6ca11bec1aae6a

المؤلفون: Xuejiao Ba, Xiyao Yang, Yizhi Zhang, Fang Guo, Lihong Zhu, Rui Tong, Yanbin Yang, Yuan Qian, Hongqing Zhang

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: kabuki syndrome, congenital heart disease, KMT2D gene, de novo mutation, hyperinsulinemic hypoglycemia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1455609/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e41868044f784da591857de10bf146e5

المؤلفون: Qi Li, Yuzhu Zheng, Xinyuan Guo, Jiang Xue

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 10, Pp n/a-n/a (2024)

مصطلحات موضوعية: cleft palate, extremely low birth weight infant, Kabuki syndrome, KMT2D gene, premature infants, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/6d86d9224db4487a8a865a6f3e333a6d

المؤلفون: Seehawer, Marco, Li, Zheqi, Nishida, Jun, Foidart, Pierre, Reiter, Andrew H, Rojas-Jimenez, Ernesto, Goyette, Marie-Anne, Yan, Pengze, Raval, Shaunak, Munoz Gomez, Miguel, Cejas, Paloma, Long, Henry W, Papanastasiou, Malvina, Polyak, Kornelia

المصدر: Nature Cell Biology, 26 (7), 1165 - 1175 (2024-07)

مصطلحات موضوعية: Matrix Metalloproteinase 3, Histone Demethylases, KMT2C protein, human, KDM6A protein, human, DNA-Binding Proteins, Neoplasm Proteins, KMT2D protein, human, MMP3 protein, human, Kmt2d protein, mouse, Histone-Lysine N-Methyltransferase, Myeloid-Lymphoid Leukemia Protein, Animals, Humans, Female, Cell Line, Tumor, Mice, DNA-Binding Proteins/metabolism, DNA-Binding Proteins/genetics, Neoplasm Proteins/genetics, Neoplasm Proteins/metabolism, Mice, Knockout, Histone-Lysine N-Methyltransferase/genetics, Histone-Lysine N-Methyltransferase/metabolism, Epigenesis, Genetic, Matrix Metalloproteinase 3/metabolism, Matrix Metalloproteinase 3/genetics, Histone Demethylases/metabolism, Histone Demethylases/genetics, Brain Neoplasms/genetics, Brain Neoplasms/secondary, Brain Neoplasms/pathology, Brain Neoplasms/metabolism, Triple Negative Breast Neoplasms/genetics, Triple Negative Breast Neoplasms/pathology, Triple Negative Breast Neoplasms/metabolism, Gene Expression Regulation, Neoplastic, Up-Regulation, Brain Neoplasms, Triple Negative Breast Neoplasms, Cell Biology, Human health sciences, Oncology, Sciences de la santé humaine, Oncologie

Relation: https://www.nature.com/articles/s41556-024-01446-3.pdf; urn:issn:1465-7392; urn:issn:1476-4679

URL الوصول: https://orbi.uliege.be/handle/2268/324819

المؤلفون: Bing Yao, Mengying Xing, Xiangwei Zeng, Ming Zhang, Que Zheng, Zhi Wang, Bo Peng, Shuang Qu, Lingyun Li, Yucui Jin, Haitao Li, Hongyan Yuan, Quan Zhao, Changyan Ma

المصدر: Clinical and Translational Medicine, Vol 14, Iss 7, Pp n/a-n/a (2024)

مصطلحات موضوعية: histone H3 lysine 4 mono‐methylation (H3K4me1), lysine methyltransferase 2D (KMT2D), triple‐negative breast cancer (TNBC), Y‐box‐binding protein 1 (YBX1), Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2001-1326

URL الوصول: https://doaj.org/article/b76fc2a649484fa59f5b68fe871f6c8e

المؤلفون: Jingyuan Zhang, Yuanbo Kang, Zenan Xia, Yuming Chong, Xiao Long, Min Shen

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: KMT2D, Kabuki syndrome, macrophage activation syndrome, immunodeficiency, T cells, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1412084/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/8566ad5bc9c449ae8ed9bf62b78506b5

المؤلفون: Lingling Wang, Lei Yang, Fangshu Guan, Jing Chen, Yuexin Cheng, Yuqing Miao, Jingsong He, Zhen Cai, He Huang, Yi Zhao

المصدر: Cancer Medicine, Vol 13, Iss 14, Pp n/a-n/a (2024)

مصطلحات موضوعية: KMT2D, next generation sequencing, peripheral T‐cell lymphoma, TP53, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/7a17475de33e4f16883b578711361d09

المؤلفون: Sophia Gandarillas, Horace Tang, Bahar Dasgeb

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: cutaneous squamous cell carcinoma (cSCC), dostarlimab, treatment, cemiplimab, standard of care, KMT2D, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1322210/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/4e99a2d6ae054dbda563cb8bf915a3e8

المؤلفون: Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li

المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-5 (2023)

مصطلحات موضوعية: Pulmonary hypertension, Kabuki syndrome, KMT2D gene mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/5ee30e37062e44f39473042c717093c9

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Diagnostics, Vol 14, Iss 16, p 1815 (2024)

مصطلحات موضوعية: Kabuki syndrome, KMT2D, phenotypic heterogeneity, Taiwan, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2075-4418/14/16/1815; https://doaj.org/toc/2075-4418

URL الوصول: https://doaj.org/article/02c1200cf9204d7da31eabca4f7bccaf

المؤلفون: Bing Yao, Mengying Xing, Shixin Meng, Shang Li, Jingwan Zhou, Ming Zhang, Chen Yang, Shuang Qu, Yucui Jin, Hongyan Yuan, Ke Zen, Changyan Ma

المصدر: Advanced Science, Vol 11, Iss 2, Pp n/a-n/a (2024)

مصطلحات موضوعية: EBF2, H3K4me1, KLLN, KMT2D, pancreatic cancer, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2198-3844

URL الوصول: https://doaj.org/article/a0bf3aac6fab4e6d8308c51e418bd1f4

المؤلفون: Chung-Lin Lee, Chih-Kuang Chuang, Ming-Ren Chen, Ju-Li Lin, Huei-Ching Chiu, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Shuan-Pei Lin

المصدر: Diagnostics, Vol 14, Iss 8, p 846 (2024)

مصطلحات موضوعية: congenital heart defect, Kabuki syndrome, KMT2D gene, Taiwan, Medicine (General), R5-920

Relation: https://www.mdpi.com/2075-4418/14/8/846; https://doaj.org/toc/2075-4418; https://doaj.org/article/8d228755c9434cad837fa45f14317e66

الاتاحة: https://doi.org/10.3390/diagnostics14080846
https://doaj.org/article/8d228755c9434cad837fa45f14317e66

المؤلفون: Karina D. Rysenkova, Julia Gaboriaud, Artem I. Fokin, Raphaëlle Toubiana, Alexandre Bense, Camil Mirdass, Mélissa Jin, Minh Chau N. Ho, Elizabeth Glading, Sophie Vacher, Laura Courtois, Ivan Bièche, Alexis M. Gautreau

المصدر: Cells, Vol 13, Iss 10, p 876 (2024)

مصطلحات موضوعية: KMT2D, MLL2, MLL4, PIK3CA, Arp2/3, Cytology, QH573-671

Relation: https://www.mdpi.com/2073-4409/13/10/876; https://doaj.org/toc/2073-4409; https://doaj.org/article/05fe3e22aa2c4c49b708a8d10c872ace

الاتاحة: https://doi.org/10.3390/cells13100876
https://doaj.org/article/05fe3e22aa2c4c49b708a8d10c872ace

المؤلفون: Marzieh Jamali, Erfaneh Barar, Jiaqi Shi

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 10, p 5069 (2024)

مصطلحات موضوعية: PDAC, KMT2D, KMT2C, KDM6A, KMT2, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/10/5069; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/2139e6dbba384da1aa452b85dc5de207

الاتاحة: https://doi.org/10.3390/ijms25105069
https://doaj.org/article/2139e6dbba384da1aa452b85dc5de207

المؤلفون: Peng Peng, Ying Pan, Xueqing Lu, Hui Xu, Ziwei Zhou, Yuanqing He, Huiru Wang, Changcheng Zheng, Li Zhou

المصدر: Platelets, Vol 34, Iss 1 (2023)

مصطلحات موضوعية: hetrombopag olamine tablets, immune thrombocytopenia (itp), kabuki syndrome, kmt2d mutation, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0953-7104; https://doaj.org/toc/1369-1635

URL الوصول: https://doaj.org/article/848b27d375434ff78ac8016d35394550

المؤلفون: Maines Evelina, Maiorana Arianna, Leonardi Letizia, Piccoli Giovanni, Soffiati Massimo, Franceschi Roberto

المصدر: Endocrine Regulations, Vol 57, Iss 1, Pp 128-137 (2023)

مصطلحات موضوعية: kabuki syndrome, hyperinsulinism, hypoglycemia, kmt2d, kdm6a, review, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1336-0329

URL الوصول: https://doaj.org/article/9cca7ba4967d4d208c7f7dd32ab00aab