Zobrazeno 1 - 10
of 116
pro vyhledávání: '"EBF3"'
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 2 (2024)
Pathogenetic nucleotide variants at many genetic loci can cause conditions like cerebral palsy. Establishing the etiologic diagnosis is clinically important for optimal disease management and treatment.The presented family case demonstrates a clinica
Externí odkaz:
https://doaj.org/article/4460049fc25043b3b99f1d5fb956dc18
Autor:
Marcela Maria de Souza, Simone Cristina Méo Niciura, Marina Ibelli Pereira Rocha, Zhangyuan Pan, Huaijun Zhou, Jennifer Jessica Bruscadin, Wellison Jarles da Silva Diniz, Juliana Afonso, Priscila Silva Neubern de Oliveira, Gerson B. Mourão, Adhemar Zerlotini, Luiz Lehmann Coutinho, James E. Koltes, Luciana Correia de Almeida Regitano
Publikováno v:
Epigenetics & Chromatin, Vol 15, Iss 1, Pp 1-16 (2022)
Abstract Background Beef tenderness is a complex trait of economic importance for the beef industry. Understanding the epigenetic mechanisms underlying this trait may help improve the accuracy of breeding programs. However, little is known about epig
Externí odkaz:
https://doaj.org/article/d9a0fde4ef134748abd5451d9672dc27
Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients
Autor:
Jitao Zhu, Wenhui Li, Sha Yu, Wei Lu, Qiong Xu, Sujuan Wang, Yanyan Qian, Qiufang Guo, Suzhen Xu, Yao Wang, Ping Zhang, Xuemei Zhao, Qi Ni, Renchao Liu, Xu Li, Bingbing Wu, Shuizhen Zhou, Huijun Wang
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. EBF3 is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this s
Externí odkaz:
https://doaj.org/article/973b5253555a4ee8948d740b749af302
Autor:
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta Byrska-Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Benech, Kevin Uguen, Séverine Audebert-Bellanger, Cédric Le Marechal, Claude Férec, Stephanie Efthymiou, Fatima Rahman, Shazia Maqbool, Reza Maroofian, Henry Houlden, Rajeeva Musunuri, Giuseppe Narzisi, Avinash Abhyankar, Riana D. Hunter, Jennifer Akiyama, Lauren E. Fries, Jeffrey K. Ng, Elvisa Mehinovic, Nick Stong, Andrew S. Allen, Diane E. Dickel, Raphael A. Bernier, David U. Gorkin, Len A. Pennacchio, Michael C. Zody, Tychele N. Turner
Publikováno v:
Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)
Abstract Background Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo noncoding variation ha
Externí odkaz:
https://doaj.org/article/a0957b4159c64ec8b85c8227ab117a02
Publikováno v:
Jixie qiangdu, Vol 43, Pp 570-576 (2021)
In this paper,using 304 stainless steel material 1 mm in diameter to fuse electron beam deposition rapid prototyping,by controlling the wire feed speed,electronic beam intensity and molding parameters such as the same,choose different forming path wa
Externí odkaz:
https://doaj.org/article/13c247ab4e394e5aa085020191adc28e
Akademický článek
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Akademický článek
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Autor:
Yanru Huang, Libin Mei, Yangdan Wang, Huiming Ye, Xiaomin Ma, Jian Zhang, Meijiao Cai, Ping Li, Yunsheng Ge, Yulin Zhou
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
ObjectiveGlobal developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global de
Externí odkaz:
https://doaj.org/article/0077f7668c884639a5f4153518a43d81
Akademický článek
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Autor:
Chao Wu, Zujin Luo, Baosen Pang, Wenyi Wang, Mingqin Deng, Rong Jin, Xirennayi Muhataer, Yafang Li, Qifeng Li, Xiaohong Yang
Publikováno v:
Cellular Physiology and Biochemistry, Vol 47, Iss 3, Pp 1141-1151 (2018)
Background/Aims Pigeon breeder’s lung (PBL) results from Th1/Th2 cell imbalance. B cells inhibit the immune activity of Th1, and EBF3 is a key B cell factor. This study explored the relationship between EBF3 and Th1/Th2 imbalance in chronic PBL cas
Externí odkaz:
https://doaj.org/article/a91e5984858d4677af4bd7a2dde57e20