Zobrazeno 1 - 10
of 294
pro vyhledávání: '"ANKRD11"'
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 9, Iss 3, Pp 184-188 (2024)
Background: KBG syndrome is a rare autosomal dominant genetic disease characterized by facial dysmorphism, developmental disorders, and short stature. The syndrome is caused by the haploinsufficiency of the ankyrin repeat domain-containing protein 11
Externí odkaz:
https://doaj.org/article/05d967908e5e4381b75348602882ce34
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Ankyrin repeat domain containing-protein 11 (ANKRD11), a transcriptional factor predominantly localized in the cell nucleus, plays a crucial role in the expression regulation of key genes by recruiting chromatin remodelers and interacting wi
Externí odkaz:
https://doaj.org/article/d10bf4630dd94add8fa879c3c6433bb4
Autor:
Chen‐Hui Li, Shao‐Bo Liang, Qi‐Wei Huang, Zhen‐Zhen Zhou, Zhan Ding, Ni Long, Kwang‐Chon Wi, Liang Li, Xi‐Ping Jiang, Yu‐Jie Fan, Yong‐Zhen Xu
Publikováno v:
Advanced Science, Vol 11, Iss 29, Pp n/a-n/a (2024)
Abstract RNA splicing is crucial in the multilayer regulatory networks for gene expression, making functional interactions with DNA‐ and other RNA‐processing machineries in the nucleus. However, these established couplings are all major spliceoso
Externí odkaz:
https://doaj.org/article/b476c78574ba4f85a96a9f552cf9944a
Autor:
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. vanKempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle deJong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Publikováno v:
Epilepsia Open, Vol 8, Iss 4, Pp 1300-1313 (2023)
Abstract Objective The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype–phenotype correlation. Methods We collected data on patients with ANKRD11
Externí odkaz:
https://doaj.org/article/aed334dc863943859f018af92b96be34
Autor:
Shuoshuo Wei, Yanying Li, Wanling Yang, Shuxiong Chen, Fupeng Liu, Mei Zhang, Bo Ban, Dongye He
Publikováno v:
Heliyon, Vol 10, Iss 6, Pp e28082- (2024)
KBG syndrome is a rare autosomal dominant condition characterized by multisystem developmental disorder, primarily caused by loss-of-function variants in ankyrin repeat domain-containing protein 11 (ANKRD11). Approximately 80 % of ANKRD11 variants as
Externí odkaz:
https://doaj.org/article/9017b69e67e74b76b156e3e1c86d5c3d
Publikováno v:
Epilepsy & Behavior Reports, Vol 25, Iss , Pp 100647- (2024)
KBG syndrome is characterised by developmental delay, dental (macrodontia of upper central incisors), craniofacial and skeletal anomalies. Since the identification of variants in the gene (ANKRD11) responsible for KBG syndrome, wider phenotypes are e
Externí odkaz:
https://doaj.org/article/1497e9a6e58445899901e4e3631a7e3b
Akademický článek
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Autor:
Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract Background KBG syndrome is a rare genetic disorder involving macrodontia of the upper central incisors, craniofacial, skeletal, and neurologic symptoms, caused either by a heterozygous variant in ANKRD11 or deletion of 16q24.3, including ANK
Externí odkaz:
https://doaj.org/article/a823ec684ffc4806b271bea7426ae051
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Genomic analysis has revealed that the genes for various chromatin regulators are mutated in many individuals with neurodevelopmental disorders (NDDs), emphasizing the important role of chromatin regulation in nervous system development and function.
Externí odkaz:
https://doaj.org/article/220e7714b9a447b5a624ba44132757de
Akademický článek
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