Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome

Carvalho, Laura Machado Lara; Branco, Elisa Varella; Sarafian, Raquel Delgado; Kobayashi, Gerson Shigeru; Araújo, Fabiano Tófoli de; Souza, Lucas Santos; Moreira, Danielle de Paula; Hsia, Gabriella Shih Ping; Bertollo, Eny Maria Goloni; Buck, Cecília Barbosa; Costa, Silvia Souza da; Fialho, Davi Mendes; Vasconcelos, Felipe Tadeu Galante Rocha de; Brito, Luciano Abreu; Machado, Luciana Elena de Souza Fraga; Ramos, Igor Cabreira; Pereira, Lygia da Veiga; Koiffmann, Célia Priszkulnik; Passos‐Bueno, Maria Rita; Mendes, Tiago; Krepischi, Ana Cristina Victorino; Rosenberg, Carla

doi:10.1016/j.gene.2023.147424

Cited by 2 publications

(2 citation statements)

References 31 publications

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“…Bernard-Soulier syndrome [36], Xia-Gibbs syndrome [37], Lee syndrome [38], Laron syndrome [39], Aicardi-Gutierrez syndrome [40], Finnish-type nephrotic syndrome [41], fragile cornea syndrome [42], multicentric carpotarsal osteolysis syndrome [43], Bietti crystalline dystrophy [44], sarcoglycanopathy [45], autosomal recessive microcephaly [46], sphingolipidosess [47], and mitochondrial diseases caused by polg gene mutations [48].…”

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

confidence: 99%

“…In creating disease models, known mutations in genes that cause particular genetic syndromes in humans are obtained, such as muscle laminopathy [ 31 ], Charlevoix-Saguenay spastic ataxia [ 32 ], Marfan syndrome [ 33 ], Sanfilippo syndrome [ 34 ], Joubert syndrome [ 35 ], Bernard-Soulier syndrome [ 36 ], Xia-Gibbs syndrome [ 37 ], Lee syndrome [ 38 ], Laron syndrome [ 39 ], Aicardi-Gutierrez syndrome [ 40 ], Finnish-type nephrotic syndrome [ 41 ], fragile cornea syndrome [ 42 ], multicentric carpotarsal osteolysis syndrome [ 43 ], Bietti crystalline dystrophy [ 44 ], sarcoglycanopathy [ 45 ], autosomal recessive microcephaly [ 46 ], sphingolipidosess [ 47 ], and mitochondrial diseases caused by polg gene mutations [ 48 ].…”

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%

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

show abstract

Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A)

Kobayashi,

Vieira-Silva,

Varella-Branco

et al. 2023

Stem Cell Research

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Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome

Cited by 2 publications

References 31 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

Generation of four induced pluripotent stem cells lines from PBMC of the DFNA58 family members: Two hearing-impaired duplication carriers (USPi006-A e USPi007-A) and two normal-hearing noncarriers (USPi004-A and USPi005-A)

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