SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders

Lin, Hui; Chen, Yanhui

doi:10.1016/j.seizure.2023.06.018

Cited by 4 publications

(2 citation statements)

References 15 publications

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“…Genome editing has been used to model human tumors such as liver cancer [70], paraganglioma [71], skin melanoma [72], and epithelioid sarcoma [73]. Among neurologic diseases, amyotrophic lateral sclerosis [74], epilepsy [75][76][77][78][79] [105,106], inner ear [107][108][109][110][111], vestibular apparatus [111], otoliths [112], brain [89, [113][114][115][116][117], neural tissue [118][119][120][121][122][123][124][125][126][127] and nervous system [128][129][130], heart [131][132][133][134][135][136][137][138][139], cardiomyocytes [140][141]…”

Section: Zebrafish As a Model Object In Studies Using Genome Editingmentioning

confidence: 99%

“…Genome editing has been used to model human tumors such as liver cancer [ 70 ], paraganglioma [ 71 ], skin melanoma [ 72 ], and epithelioid sarcoma [ 73 ]. Among neurologic diseases, amyotrophic lateral sclerosis [ 74 ], epilepsy [ 75 , 76 , 77 , 78 , 79 ], Hirschprung’s disease [ 80 ], autism [ 81 , 82 , 83 , 84 ], spastic paraplegia [ 85 ], restless legs syndrome [ 86 ], insomnia [ 87 ], microcephaly [ 46 ], neurotransmitter function of dopamine [ 88 ], monoamine [ 89 ], and others [ 90 , 91 ]. Cleft lip and cleft palate mutants also have been tested [ 92 ].…”

Section: Genome Editing In Salmonidae and Cyprinidae Aquaculture Fish...mentioning

confidence: 99%

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In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

Orlova,

Ruzina,

Emelianova

et al. 2024

Genes

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Aquaculture supplies the world food market with a significant amount of valuable protein. Highly productive aquaculture fishes can be derived by utilizing genome-editing methods, and the main problem is to choose a target gene to obtain the desirable phenotype. This paper presents a review of the studies of genome editing for genes controlling body development, growth, pigmentation and sex determination in five key aquaculture Salmonidae and Cyprinidae species, such as rainbow trout (Onchorhynchus mykiss), Atlantic salmon (Salmo salar), common carp (Cyprinus carpio), goldfish (Carassius auratus), Gibel carp (Carassius gibelio) and the model fish zebrafish (Danio rerio). Among the genes studied, the most applicable for aquaculture are mstnba, pomc, and acvr2, the knockout of which leads to enhanced muscle growth; runx2b, mutants of which do not form bones in myoseptae; lepr, whose lack of function makes fish fast-growing; fads2, Δ6abc/5Mt, and Δ6bcMt, affecting the composition of fatty acids in fish meat; dnd mettl3, and wnt4a, mutants of which are sterile; and disease-susceptibility genes prmt7, gab3, gcJAM-A, and cxcr3.2. Schemes for obtaining common carp populations consisting of only large females are promising for use in aquaculture. The immobilized and uncolored zebrafish line is of interest for laboratory use.

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Section: Zebrafish As a Model Object In Studies Using Genome Editingmentioning

confidence: 99%

“…Genome editing has been used to model human tumors such as liver cancer [ 70 ], paraganglioma [ 71 ], skin melanoma [ 72 ], and epithelioid sarcoma [ 73 ]. Among neurologic diseases, amyotrophic lateral sclerosis [ 74 ], epilepsy [ 75 , 76 , 77 , 78 , 79 ], Hirschprung’s disease [ 80 ], autism [ 81 , 82 , 83 , 84 ], spastic paraplegia [ 85 ], restless legs syndrome [ 86 ], insomnia [ 87 ], microcephaly [ 46 ], neurotransmitter function of dopamine [ 88 ], monoamine [ 89 ], and others [ 90 , 91 ]. Cleft lip and cleft palate mutants also have been tested [ 92 ].…”

Section: Genome Editing In Salmonidae and Cyprinidae Aquaculture Fish...mentioning

confidence: 99%

In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

Orlova,

Ruzina,

Emelianova

et al. 2024

Genes

View full text Add to dashboard Cite

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Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders

Luo,

Wang,

Zhou

et al. 2024

The American Journal of Human Genetics

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Epilepsy-associated genes: discovery, clinical significance, and underlying principles of genetic medicine

Liao

2024

Seizure: European Journal of Epilepsy

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SCAF4 variants associated with focal epilepsy accompanied by multisystem disorders

Cited by 4 publications

References 15 publications

In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

In Search of a Target Gene for a Desirable Phenotype in Aquaculture: Genome Editing of Cyprinidae and Salmonidae Species

Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders

Epilepsy-associated genes: discovery, clinical significance, and underlying principles of genetic medicine

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