Cargando…

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of disorders that often severely impair vision. Some patients manifest poor central vision as the first symptom due to cone-dysfunction, which is consistent with cone dystrophy (COD), Stargardt disease (STGD),...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fernández-Suárez, Elena, González-del Pozo, María, García-Núñez, Alejandro, Méndez-Vidal, Cristina, Martín-Sánchez, Marta, Mejías-Carrasco, José Manuel, Ramos-Jiménez, Manuel, Morillo-Sánchez, María José, Rodríguez-de la Rúa, Enrique, Borrego, Salud, Antiñolo, Guillermo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401274/ https://www.ncbi.nlm.nih.gov/pubmed/37547476 http://dx.doi.org/10.3389/fcell.2023.1197744

Ejemplares similares

A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies
por: González-del Pozo, María, et al.
Publicado: (2022)

A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification
por: Martín-Sánchez, Marta, et al.
Publicado: (2020)

Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing
por: González-del Pozo, María, et al.
Publicado: (2018)

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel
por: Bravo-Gil, Nereida, et al.
Publicado: (2016)

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease
por: Sánchez-Mejías, Avencia, et al.
Publicado: (2010)

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
por: Pozo, María González-del, et al.
Publicado: (2014)

Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients
por: Fernández, Raquel María, et al.
Publicado: (2017)

Unravelling the genetic basis of simplex Retinitis Pigmentosa cases
por: Bravo-Gil, Nereida, et al.
Publicado: (2017)

A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique
por: Núñez-Torres, Rocío, et al.
Publicado: (2009)

Unmasking Retinitis Pigmentosa complex cases by a whole genome sequencing algorithm based on open-access tools: hidden recessive inheritance and potential oligogenic variants
por: González-del Pozo, María, et al.
Publicado: (2020)

Expanding the clinical and mutational spectrum of germline ABL1 mutations-associated syndrome: A case report
por: Bravo-Gil, Nereida, et al.
Publicado: (2019)

Multimodal imaging in dominant cystoid macular dystrophy
por: Roy, Rupak, et al.
Publicado: (2017)

High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population
por: Gamundi, María José, et al.
Publicado: (2007)

Comment on: “Multimodal imaging in dominant cystoid macular dystrophy”
por: Tripathy, Koushik
Publicado: (2018)

Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy
por: Fernández-Perea, Yolanda, et al.
Publicado: (2017)

A Korean Family with an Early-Onset Autosomal Dominant Macular Dystrophy Resembling North Carolina Macular Dystrophy
por: Kim, Sang Jin, et al.
Publicado: (2006)

Quantitative analysis of the ThrbCRM1-centered gene regulatory network
por: Souferi, Benjamin, et al.
Publicado: (2019)

Response to comment on “Multimodal imaging in dominant cystoid macular dystrophy”
por: Roy, Rupak, et al.
Publicado: (2018)

Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
por: Fernández, Raquel M, et al.
Publicado: (2010)

Reduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance
por: Heldmann, Marcus, et al.
Publicado: (2021)

Changes in brain structure in subjects with resistance to thyroid hormone due to THRB mutations
por: Rogge, Berenike, et al.
Publicado: (2023)

Dnmt3b knock-down in enteric precursors reveals a possible mechanism by which this de novo methyltransferase is involved in the enteric nervous system development and the onset of Hirschsprung disease
por: Torroglosa, Ana, et al.
Publicado: (2017)

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations
por: Manes, Gaël, et al.
Publicado: (2017)

Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree
por: Méndez-Vidal, Cristina, et al.
Publicado: (2014)

A novel mutation of the THRB gene in a Japanese family with resistance to thyroid hormone
por: Ito, Jumpei, et al.
Publicado: (2016)

FRI532 Thyroid Hormone Resistance: A Possible New Variant In The THRB Gene
por: Siddiqui, Anood, et al.
Publicado: (2023)

Experience of Preimplantation Genetic Diagnosis for Hemophilia at the University Hospital Virgen Del Rocío in Spain: Technical and Clinical Overview
por: Fernández, Raquel M., et al.
Publicado: (2015)

Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
por: Sánchez, Javier, et al.
Publicado: (2014)

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients
por: Luzón-Toro, Berta, et al.
Publicado: (2015)

Clinical and Technical Overview of Preimplantation Genetic Diagnosis for Fragile X Syndrome: Experience at the University Hospital Virgen del Rocio in Spain
por: Fernández, Raquel M., et al.
Publicado: (2015)

Expression of PROKR1 and PROKR2 in Human Enteric Neural Precursor Cells and Identification of Sequence Variants Suggest a Role in HSCR
por: Ruiz-Ferrer, Macarena, et al.
Publicado: (2011)

Overexpression of DNMT3b target genes during Enteric Nervous System development contribute to the onset of Hirschsprung disease
por: Villalba-Benito, Leticia, et al.
Publicado: (2017)

Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease
por: Torroglosa, Ana, et al.
Publicado: (2020)

ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease
por: Villalba-Benito, Leticia, et al.
Publicado: (2020)

Experience of Preimplantation Genetic Diagnosis with HLA Matching at the University Hospital Virgen del Rocío in Spain: Technical and Clinical Overview
por: Fernández, Raquel María, et al.
Publicado: (2014)

Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events
por: Núñez-Torres, Rocio, et al.
Publicado: (2011)

Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing
por: González-del Pozo, María, et al.
Publicado: (2011)

MACULAR ATROPHY AND PHENOTYPIC VARIABILITY IN AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY DUE TO PROM1 MUTATION
por: Ricca, Aaron M., et al.
Publicado: (2023)

Contributions of PHOX2B in the Pathogenesis of Hirschsprung Disease
por: Fernández, Raquel María, et al.
Publicado: (2013)

Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease
por: Enguix-Riego, María Valle, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_d1urt69fcg7e2i3re7ad6nqn55