Cargando…

A putative frameshift variant in the CHM gene is associated with an unexpected splicing alteration in a choroideremia patient

BACKGROUND: Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X‐linked eye...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fioretti, Tiziana, Ungari, Silvana, Savarese, Maria, Cattaneo, Fabio, Pirozzi, Enza, Esposito, Gabriella
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667377/ https://www.ncbi.nlm.nih.gov/pubmed/32949230 http://dx.doi.org/10.1002/mgg3.1490

Ejemplares similares

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription
por: Fioretti, Tiziana, et al.
Publicado: (2021)

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

Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia
por: Bae, Kunho, et al.
Publicado: (2017)

Novel CHM mutations identified in Chinese families with Choroideremia
por: Cai, Xue-Bi, et al.
Publicado: (2016)

The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype
por: Simunovic, Matthew P., et al.
Publicado: (2016)

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants
por: McLaren, Terri L., et al.
Publicado: (2020)

In silico data analyses of the hotspot mutations of CHM gene in choroideremia disease
por: Imani, Saber, et al.
Publicado: (2018)

Gene Augmentation of CHM Using Non-Viral Episomal Vectors in Models of Choroideremia
por: Toualbi, Lyes, et al.
Publicado: (2023)

Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
por: Skorczyk-Werner, Anna, et al.
Publicado: (2018)

Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
por: Yang, Lisha, et al.
Publicado: (2017)

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families
por: Hayashi, Takaaki, et al.
Publicado: (2020)

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report
por: Di Giosaffatte, Niccolò, et al.
Publicado: (2022)

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa
por: Guo, Hui, et al.
Publicado: (2015)

Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia
por: Dan, Handong, et al.
Publicado: (2020)

Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation
por: Moussa, Michael T., et al.
Publicado: (2022)

A Case Study of Choroideremia and Choroideremia Carrier
por: Pidro, Ajla, et al.
Publicado: (2019)

Molecular Therapies for Choroideremia
por: Cehajic Kapetanovic, Jasmina, et al.
Publicado: (2019)

Choroideremia Gene Therapy
por: Lam, Byron L., et al.
Publicado: (2021)

Choroideremia: The Endpoint Endgame
por: Abdalla Elsayed, Maram E. A., et al.
Publicado: (2023)

Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia
por: Lin, Ying, et al.
Publicado: (2011)

Unexpected phenotype in a frameshift mutation of PTCH1
por: Beltrami, Benedetta, et al.
Publicado: (2019)

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene
por: Contestabile, Maria T., et al.
Publicado: (2014)

Molecular genetic diagnostic techniques in choroideremia
por: Furgoch, Mira J.B., et al.
Publicado: (2014)

Recent advances and future prospects in choroideremia
por: Zinkernagel, Martin S, et al.
Publicado: (2015)

Multimodal Imaging of Photoreceptor Structure in Choroideremia
por: Sun, Lynn W., et al.
Publicado: (2016)

Multimodal imaging in a case of choroideremia
por: Goel, Sugandha, et al.
Publicado: (2019)

Choroideremia associated with an X-autosomal translocation
por: Siu, Victoria M., et al.
Publicado: (1990)

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients
por: Fioretti, Tiziana, et al.
Publicado: (2020)

Nuclear FGFR2 Interacts with the MLL-AF4 Oncogenic Chimera and Positively Regulates HOXA9 Gene Expression in t(4;11) Leukemia Cells
por: Fioretti, Tiziana, et al.
Publicado: (2021)

Are Michigan State University medical school (MSU-CHM) alumni more likely to practice in the region of their graduate medical education primary care program compared to non-MSU-CHM alumni?
por: Switzer, Richard, et al.
Publicado: (2018)

Choroideremia: Update On Clinical Features And Emerging Treatments
por: Brambati, Maria, et al.
Publicado: (2019)

An In Silica Model for RPE Loss Patterns in Choroideremia
por: Young, Benjamin K., et al.
Publicado: (2021)

Clinical and Genetic Findings in Korean Patients with Choroideremia
por: Jo, Woo Gyeong, et al.
Publicado: (2023)

Ribosomal frameshifting in plants: a novel signal directs the -1 frameshift in the synthesis of the putative viral replicase of potato leafroll luteovirus.
por: Prüfer, D, et al.
Publicado: (1992)

The endochondral bone protein CHM1 sustains an undifferentiated, invasive phenotype, promoting lung metastasis in Ewing sarcoma
por: von Heyking, Kristina, et al.
Publicado: (2017)

MiR‐27a downregulates 14‐3‐3θ, RUNX1, AF4, and MLL‐AF4, crucial drivers of blast transformation in t(4;11) leukemia cells
por: Fioretti, Tiziana, et al.
Publicado: (2022)

Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis
por: Liu, Yuefang, et al.
Publicado: (2023)

Author Response to Letter to the Editor from CHM van den Ende et al
por: Álvarez, et al.
Publicado: (2020)

excluderanges: exclusion sets for T2T-CHM13, GRCm39, and other genome assemblies
por: Ogata, Jonathan D, et al.
Publicado: (2023)

Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab
por: Palejwala, Neal V, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_plrgj6c9pjkfv0itk2lqrjpud5