Cargando…

An Update on Phosphodiesterase Mutations Underlying Genetic Etiology of Hearing Loss and Retinitis Pigmentosa

Detalles Bibliográficos
Autores principales:	Mittal, Rahul, Bencie, Nicole, Parrish, James M., Liu, George, Mittal, Jeenu, Yan, Denise, Liu, Xue Zhong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809491/ https://www.ncbi.nlm.nih.gov/pubmed/29472945 http://dx.doi.org/10.3389/fgene.2018.00009

Ejemplares similares

Role of Cyclic Nucleotide Phosphodiesterases in Inner Ear and Hearing
por: Mittal, Rahul, et al.
Publicado: (2017)

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa
por: Latif, Zahid, et al.
Publicado: (2018)

Pseudodominant Inheritance of Retinitis Pigmentosa Due to Mutations in the Phosphodiesterase 6B Gene: A Case Report
por: Robles Bocanegra, Andrea, et al.
Publicado: (2023)

Genotype-Phenotype Correlation for Predicting Cochlear Implant Outcome: Current Challenges and Opportunities
por: Eshraghi, Adrien A., et al.
Publicado: (2020)

Mutations in phosphodiesterase 6 identified in familial cases of retinitis pigmentosa
por: Ullah, Inayat, et al.
Publicado: (2016)

Recent Advancements in the Regeneration of Auditory Hair Cells and Hearing Restoration
por: Mittal, Rahul, et al.
Publicado: (2017)

Allele-specific gene-editing approach for vision loss restoration in RHO-associated retinitis pigmentosa
por: Liu, Xiaozhen, et al.
Publicado: (2023)

An Unusual Case of Congenital Hepatic Fibrosis with Retinitis Pigmentosa
por: Butt, Nazish, et al.
Publicado: (2019)

Recent advancements in cell-based models for auditory disorders
por: Langlie, Jake, et al.
Publicado: (2022)

Unraveling pathological mechanisms in neurological disorders: the impact of cell-based and organoid models
por: Langlie, Jake, et al.
Publicado: (2022)

Retinitis Pigmentosa Sine Pigmento in a Carrier of Usher Syndrome
por: Ayala Rodríguez, Sofía C, et al.
Publicado: (2023)

Association of PRPS1 Mutations with Disease Phenotypes
por: Mittal, Rahul, et al.
Publicado: (2015)

Recent Perspectives on Gene-Microbe Interactions Determining Predisposition to Otitis Media
por: Mittal, Rahul, et al.
Publicado: (2019)

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin
por: Jung, Young Hoon, et al.
Publicado: (2023)

Central Visual Function and Genotype–Phenotype Correlations in PDE6A-Associated Retinitis Pigmentosa
por: Kuehlewein, Laura, et al.
Publicado: (2022)

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome
por: Colombo, Leonardo, et al.
Publicado: (2021)

The Potential Role of Epigenetic Mechanisms in the Development of Retinitis Pigmentosa and Related Photoreceptor Dystrophies
por: Dvoriantchikova, Galina, et al.
Publicado: (2022)

Molecular Genetic Analysis of the Autosomal Recessive Non-Syndromic Inherited Retinitis Pigmentosa
por: Habib, Faiza, et al.
Publicado: (2023)

Preimplantation genetic testing for hereditary hearing loss in Chinese population
por: Bi, Qingling, et al.
Publicado: (2023)

Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome
por: Li, Wei, et al.
Publicado: (2022)

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)

Recent advancements in noninvasive brain modulation for individuals with autism spectrum disorder
por: Griff, Jessica R., et al.
Publicado: (2022)

Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
por: Ali, Shahbaz, et al.
Publicado: (2011)

In Vivo CRISPR/Cas9-Mediated Genome Editing Mitigates Photoreceptor Degeneration in a Mouse Model of X-Linked Retinitis Pigmentosa
por: Hu, Shuang, et al.
Publicado: (2020)

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
por: Beryozkin, Avigail, et al.
Publicado: (2016)

Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa
por: Sarkar, Hajrah, et al.
Publicado: (2020)

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update
por: Gao, Yajuan, et al.
Publicado: (2022)

A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa
por: Wheway, Gabrielle, et al.
Publicado: (2019)

Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa
por: Wang, Yihui, et al.
Publicado: (2021)

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family
por: Vaclavik, Veronika, et al.
Publicado: (2022)

Phosphodiesterase Type 5 Inhibitors and sudden sensorineural hearing loss
por: Barreto, Monique Antunes de Souza Chelminski, et al.
Publicado: (2015)

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

Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients
por: Inaba, Akira, et al.
Publicado: (2020)

Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867
por: Wang, Junwen, et al.
Publicado: (2022)

Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations
por: Nazlamova, Liliya, et al.
Publicado: (2022)

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

Recent advancements toward gapless neural-electrode interface post-cochlear implantation
por: Li, Crystal Y., et al.
Publicado: (2021)

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder
por: Kovač, Jernej, et al.
Publicado: (2017)

Novel compound heterozygous variants in the USH2A gene associated with autosomal recessive retinitis pigmentosa without hearing loss
por: Huang, Yanxia, et al.
Publicado: (2023)

Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa
por: Chen, Nelson, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_22fm367m8kh7vjdc2436ljol34