Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome (2023)
- Authors:
- 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, Celia Priszkulnik
- Passos-Bueno, Maria Rita
- Mendes, Tiago Antonio de Oliveira
- Krepischi, Ana Cristina Victorino
- Rosenberg, Carla
- USP affiliated authors: CARRAMASCHI, LYGIA DA VEIGA PEREIRA - IB ; KOIFFMANN, CELIA PRISZKULNIK - IB ; BUENO, MARIA RITA DOS SANTOS E PASSOS - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; ROSENBERG, CARLA - IB ; CARVALHO, LAURA MACHADO LARA - IB ; BRANCO, ELISA VARELLA - IB ; SARAFIAN, RAQUEL DELGADO - Interunidades em Biotecnologia ; KOBAYASHI, GERSON SHIGERU - IB ; ARAUJO, FABIANO TÓFOLI DE - IB ; SOUZA, LUCAS SANTOS E - IB ; MOREIRA, DANIELLE DE PAULA - IB ; HSIA, GABRIELLA SHIH PING - IB ; VASCONCELOS, FELIPE TADEU GALANTE ROCHA DE - IB ; BRITO, LUCIANO ABREU - IB ; MACHADO, LUCIANA ELENA DE SOUZA FRAGA - IQ ; RAMOS, IGOR CABREIRA - IB
- Unidades: IB; Interunidades em Biotecnologia; IQ
- DOI: 10.1016/j.gene.2023.147424
- Subjects: GENÉTICA MÉDICA; DOENÇAS GENÉTICAS; PESSOAS COM DEFICIÊNCIA INTELECTUAL
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de acesso aberto
- Este artigo NÃO é de acesso aberto
-
ABNT
CARVALHO, Laura Machado Lara et al. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, v. 871, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.gene.2023.147424. Acesso em: 12 fev. 2026. -
APA
Carvalho, L. M. L., Branco, E. V., Sarafian, R. D., Kobayashi, G. S., Araújo, F. T. de, Souza, L. S., et al. (2023). Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, 871. doi:10.1016/j.gene.2023.147424 -
NLM
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2026 fev. 12 ] Available from: https://doi.org/10.1016/j.gene.2023.147424 -
Vancouver
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2026 fev. 12 ] Available from: https://doi.org/10.1016/j.gene.2023.147424 - A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review
- Recapitulation of neural crest specification and EMT via induction from neural plate border-like cells
- ACTB loss-of-function variant and AUTS2 duplication in a patient with syndromic intellectual disability
- Neural crest E-cadherin loss drives cleft lip/palate by epigenetic modulation via pro-inflammatory gene–environment interaction
- SCAF4-related syndromic intellectual disability
- Two novel pathogenic variants in MED13L: one familial and one isolated case
- Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila
- Generation and characterization of cortical organoids from iPSC-derived dental pulp stem cells using traditional and innovative approaches
- Van der Woude syndrome and amniotic band sequence: a clue to a common genetic etiology? A case report
- Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast
Informações sobre o DOI: 10.1016/j.gene.2023.147424 (Fonte: oaDOI API)
Download do texto completo
| Tipo | Nome | Link | |
|---|---|---|---|
 |
3140064.pdf |
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
