Cargando…

Retinitis Pigmentosa Due to Rp1 Biallelic Variants

In the present study, we screened 529 Brazilian individuals affected by inherited retinal disorders. A total of seven unrelated and nonsyndromic patients with RP1 biallelic variants (OMIM # 180100) were diagnosed in our centre and included in the study. They had classic retinitis pigmentosa with dia...

Descripción completa

Detalles Bibliográficos
Autores principales:	Silva, Rita Sousa, Salles, Mariana Vallim, Motta, Fabiana Louise, Sallum, Juliana Maria Ferraz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6994576/ https://www.ncbi.nlm.nih.gov/pubmed/32005865 http://dx.doi.org/10.1038/s41598-020-58243-9

Ejemplares similares

Gene panel sequencing in Brazilian patients with retinitis pigmentosa
por: Costa, Kárita Antunes, et al.
Publicado: (2017)

Relative frequency of inherited retinal dystrophies in Brazil
por: Motta, Fabiana Louise, et al.
Publicado: (2018)

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes
por: Motta, Fabiana Louise, et al.
Publicado: (2017)

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia
por: da Palma, Mariana Matioli, et al.
Publicado: (2020)

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease
por: Salles, Mariana Vallim, et al.
Publicado: (2018)

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy
por: da Palma, Mariana Matioli, et al.
Publicado: (2021)

Differential pattern of RP1 mutations in retinitis pigmentosa
por: Zhang, Xin, et al.
Publicado: (2010)

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
por: Jurkute, Neringa, et al.
Publicado: (2022)

Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum
por: Huckfeldt, Rachel M., et al.
Publicado: (2020)

Adaptive optics ophthalmoscopy in retinitis pigmentosa (RP): Typical patterns
por: Kortuem, Friederike C., et al.
Publicado: (2022)

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families
por: Nadeem, Raheela, et al.
Publicado: (2020)

Retinitis Pigmentosa (RP): The Role of Oxidative Stress in the Degenerative Process Progression
por: Vingolo, Enzo M., et al.
Publicado: (2022)

NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene
por: Strafella, Claudia, et al.
Publicado: (2019)

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees
por: Al-Bdour, Muawyah, et al.
Publicado: (2020)

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids
por: Lane, Amelia, et al.
Publicado: (2020)

Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases
por: Kabir, Firoz, et al.
Publicado: (2016)

Novel codon 15 RHO gene mutation associated with retinitis pigmentosa
por: Vilela, Manuel AP, et al.
Publicado: (2018)

Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants
por: Patil, Suresh B., et al.
Publicado: (2011)

The X-linked Retinitis Pigmentosa protein RP2 facilitates traffic of cilia target proteins
por: Schwarz, N, et al.
Publicado: (2012)

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
por: Jiang, Jingjing, et al.
Publicado: (2017)

Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa
por: Aloe, G., et al.
Publicado: (2019)

Commentary: Visual impairment due to retinitis pigmentosa in India
por: Battu, Rajani
Publicado: (2023)

Retinitis pigmentosa
por: Hamel, Christian
Publicado: (2006)

Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family
por: Berry, Vanita, et al.
Publicado: (2023)

Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
por: Wilkie, Susan E., et al.
Publicado: (2008)

Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa
por: Frio, Thomas Rio, et al.
Publicado: (2009)

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family
por: Siemiatkowska, Anna M., et al.
Publicado: (2012)

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY
por: Raparia, Eva, et al.
Publicado: (2023)

Structural but Not Functional Alterations in Cones in the Absence of the Retinal Disease Protein Retinitis Pigmentosa 2 (RP2) in a Cone-Only Retina
por: Li, Linjing, et al.
Publicado: (2019)

Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy
por: Bodenbender, Jan-Philipp, et al.
Publicado: (2023)

Retinal detachment in retinitis pigmentosa
por: Chan, Weng Onn, et al.
Publicado: (2020)

Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
por: Strubbe, Ine, et al.
Publicado: (2021)

Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India
por: Gandra, Mamatha, et al.
Publicado: (2008)

Secretory Defect and Cytotoxicity: THE POTENTIAL DISEASE MECHANISMS FOR THE RETINITIS PIGMENTOSA (RP)-ASSOCIATED INTERPHOTORECEPTOR RETINOID-BINDING PROTEIN (IRBP)
por: Li, Songhua, et al.
Publicado: (2013)

Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report
por: Lee, Hyun Woo, et al.
Publicado: (2023)

A Hybrid Model Composed of Two Convolutional Neural Networks (CNNs) for Automatic Retinal Layer Segmentation of OCT Images in Retinitis Pigmentosa (RP)
por: Wang, Yi-Zhong, et al.
Publicado: (2021)

Decoding retinitis pigmentosa
por: Natarajan, Sundaram
Publicado: (2013)

On the Heredity of Retinitis Pigmentosa
por: Schmidt, Herman
Publicado: (1875)

The Genetic Basis of Pericentral Retinitis Pigmentosa—A Form of Mild Retinitis Pigmentosa
por: Comander, Jason, et al.
Publicado: (2017)

Retinal cell transplantation in retinitis pigmentosa
por: Tezel, Tongalp H., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_clol9j79nnbt4sftmge5kojg7d