Cargando…

The Dct(−/−) Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism

We have recently identified DCT encoding dopachrome tautomerase (DCT) as the eighth gene for oculocutaneous albinism (OCA). Patients with loss of function of DCT suffer from eye hypopigmentation and retinal dystrophy. Here we investigate the eye phenotype in Dct(−/−) mice. We show that their retinal...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tingaud-Sequeira, Angèle, Mercier, Elina, Michaud, Vincent, Pinson, Benoît, Gazova, Ivet, Gontier, Etienne, Decoeur, Fanny, McKie, Lisa, Jackson, Ian J., Arveiler, Benoît, Javerzat, Sophie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324463/ https://www.ncbi.nlm.nih.gov/pubmed/35885947 http://dx.doi.org/10.3390/genes13071164

Ejemplares similares

Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation
por: Moreno-Artero, Ester, et al.
Publicado: (2022)

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS
por: Tingaud‐Sequeira, Angèle, et al.
Publicado: (2020)

Ophthalmologic Phenotype–Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
por: Seguy, Paul-Henri, et al.
Publicado: (2023)

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism
por: Michaud, Vincent, et al.
Publicado: (2022)

The Role of egr1 in Early Zebrafish Retinogenesis
por: Zhang, Liyun, et al.
Publicado: (2013)

dachshund Potentiates Hedgehog Signaling during Drosophila Retinogenesis
por: Brás-Pereira, Catarina, et al.
Publicado: (2016)

Retinogenesis of the Human Fetal Retina: An Apical Polarity Perspective
por: Quinn, Peter M.J., et al.
Publicado: (2019)

Challenging Safety and Efficacy of Retinal Gene Therapies by Retinogenesis
por: Marrocco, Elena, et al.
Publicado: (2021)

Albinism, Partial Albinism, and Vitiligo
por: Kugelman, Thomas P., et al.
Publicado: (1961)

Retinal Organoids from Pluripotent Stem Cells Efficiently Recapitulate Retinogenesis
por: Völkner, Manuela, et al.
Publicado: (2016)

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences
por: Kruijt, Charlotte C., et al.
Publicado: (2022)

RINT1 Loss Impairs Retinogenesis Through TRP53-Mediated Apoptosis
por: Gomes, Anielle L., et al.
Publicado: (2020)

Transcription factors involved in retinogenesis are co-opted by the circadian clock following photoreceptor differentiation
por: Laranjeiro, Ricardo, et al.
Publicado: (2014)

Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma
por: Aldiri, Issam, et al.
Publicado: (2015)

Retinogenesis in a Dish: Bibliometric Analysis and Visualization of Retinal Organoids From 2011 to 2022
por: Shen, Wenyue, et al.
Publicado: (2023)

Structural and functional divergence of two fish aquaporin-1 water channels following teleost-specific gene duplication
por: Tingaud-Sequeira, Angèle, et al.
Publicado: (2008)

Misregulated Posttranscriptional Checkpoints: Inflammation and Tumorigenesis
por: Brewer, Gary
Publicado: (2001)

Misregulation of the IgH Locus in Thymocytes
por: Kumari, Gita, et al.
Publicado: (2018)

DCT creates wellbeing whiteboards
Publicado: (2021)

Oculocutaneous albinism
por: Grønskov, Karen, et al.
Publicado: (2007)

New insights into molecular pathways associated with flatfish ovarian development and atresia revealed by transcriptional analysis
por: Tingaud-Sequeira, Angèle, et al.
Publicado: (2009)

The zebrafish genome encodes the largest vertebrate repertoire of functional aquaporins with dual paralogy and substrate specificities similar to mammals
por: Tingaud-Sequeira, Angèle, et al.
Publicado: (2010)

Protective effects of resveratrol on the ethanol‐induced disruption of retinogenesis in pluripotent stem cell‐derived organoids
por: Li, Hongyu, et al.
Publicado: (2023)

Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis
por: Watson, Avril, et al.
Publicado: (2022)

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism
por: Chan, Hwei Wuen, et al.
Publicado: (2021)

Transcriptional regulation and its misregulation in Alzheimer’s disease
por: Chen, Xiao-Fen, et al.
Publicado: (2013)

Transcriptional Regulation: Molecules, Involved Mechanisms, and Misregulation
por: Casamassimi, Amelia, et al.
Publicado: (2019)

Misregulation of the expression and activity of DNA methyltransferases in cancer
por: Mensah, Isaiah K, et al.
Publicado: (2021)

Transcriptional Regulation and Its Misregulation in Human Diseases
por: Casamassimi, Amelia, et al.
Publicado: (2023)

Channel Estimation in DCT-Based OFDM
por: Wang, Yulin, et al.
Publicado: (2014)

4DCT is long overdue for improvement
por: Tryggestad, Erik, et al.
Publicado: (2023)

Pax6 modulates intra-retinal axon guidance and fasciculation of retinal ganglion cells during retinogenesis
por: Lalitha, Soundararajan, et al.
Publicado: (2020)

Considerable interobserver variation in delineation of pancreatic cancer on 3DCT and 4DCT: a multi-institutional study
por: Versteijne, Eva, et al.
Publicado: (2017)

Albin, Vasconcelos, Elizondo
por: Albin Zychlisky, Enrique, 1954-
Publicado: (1995)

Albinism: Images in ophthalmology
por: Sreelatha, O. K., et al.
Publicado: (2009)

Albinism in barley androgenesis
por: Makowska, Katarzyna, et al.
Publicado: (2013)

Retinal detachment in albinism
por: Mansour, Ahmad M, et al.
Publicado: (2018)

A Rapid Transcriptome Response Is Associated with Desiccation Resistance in Aerially-Exposed Killifish Embryos
por: Tingaud-Sequeira, Angèle, et al.
Publicado: (2013)

Occipital Petalia and Albinism: A Study of Interhemispheric VEP Asymmetries in Albinism with No Nystagmus
por: Liasis, Alkiviades, et al.
Publicado: (2019)

Evaluation of dosimetric variance in whole breast forward-planned intensity-modulated radiotherapy based on 4DCT and 3DCT
por: Wang, Wei, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_83qaj9ll09efpjt34lj6tk7enr