Cargando…

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes

Inherited bone marrow failure syndromes (IBMFS) are a group of cancer-prone genetic diseases characterized by hypocellular bone marrow with impairment in one or more hematopoietic lineages. The pathogenesis of IBMFS involves mutations in several genes which encode for proteins involved in DNA repair...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bezzerri, Valentino, Api, Martina, Allegri, Marisole, Fabrizzi, Benedetta, Corey, Seth J., Cipolli, Marco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7369780/ https://www.ncbi.nlm.nih.gov/pubmed/32630050 http://dx.doi.org/10.3390/ijms21134672

Ejemplares similares

The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis
por: Kawashima, Nozomu, et al.
Publicado: (2023)

mTOR and STAT3 Pathway Hyper-Activation is Associated with Elevated Interleukin-6 Levels in Patients with Shwachman-Diamond Syndrome: Further Evidence of Lymphoid Lineage Impairment
por: Vella, Antonio, et al.
Publicado: (2020)

Peering through zebrafish to understand inherited bone marrow failure syndromes
por: Oyarbide, Usua, et al.
Publicado: (2019)

Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants
por: Kawashima, Nozomu, et al.
Publicado: (2023)

Overview of inherited bone marrow failure syndromes
por: Park, Meerim
Publicado: (2022)

Inherited bone marrow failure in the pediatric patient
por: Dokal, Inderjeet, et al.
Publicado: (2022)

Does cystic fibrosis constitute an advantage in COVID-19 infection?
por: Bezzerri, Valentino, et al.
Publicado: (2020)

Current insights into inherited bone marrow failure syndromes
por: Chung, Nack-Gyun, et al.
Publicado: (2014)

Bone Mineral Density in Patients with Inherited Bone Marrow Failure Syndromes
por: Shankar, Roopa Kanakatti, et al.
Publicado: (2017)

Concise Review: Getting to the Core of Inherited Bone Marrow Failures
por: Adam, Soheir, et al.
Publicado: (2016)

Is cellular senescence involved in cystic fibrosis?
por: Bezzerri, Valentino, et al.
Publicado: (2019)

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly
por: Zhang, Shu, et al.
Publicado: (2016)

ERCC6L2‐associated inherited bone marrow failure syndrome
por: Shabanova, Iren, et al.
Publicado: (2018)

The clinical impact of copy number variants in inherited bone marrow failure syndromes
por: Waespe, Nicolas, et al.
Publicado: (2017)

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome
por: Bezzerri, Valentino, et al.
Publicado: (2022)

Reduced Intensity Bone Marrow Transplantation with Post-Transplant Cyclophosphamide for Pediatric Inherited Immune Deficiencies and Bone Marrow Failure Syndromes
por: Klein, Orly R., et al.
Publicado: (2020)

Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes
por: Miwata, Shunsuke, et al.
Publicado: (2021)

Counteracting the Common Shwachman–Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing
por: Peretto, Laura, et al.
Publicado: (2023)

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes
por: Walne, Amanda J., et al.
Publicado: (2021)

Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene
por: Pierandrei, Silvia, et al.
Publicado: (2019)

Novel hemizygous nonsense mutation in DRP2 is associated with inherited neuropathy
por: Roda, Ricardo H., et al.
Publicado: (2018)

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes
por: Gadalla, Shahinaz M., et al.
Publicado: (2010)

Attenuation of Nonsense-Mediated mRNA Decay Enhances In Vivo Nonsense Suppression
por: Keeling, Kim M., et al.
Publicado: (2013)

New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes
por: Bezzerri, Valentino, et al.
Publicado: (2016)

Repurposing tRNAs for nonsense suppression
por: Albers, Suki, et al.
Publicado: (2021)

Gene therapy for congenital marrow failure syndromes – no longer grasping at straws?
por: Voit, Richard A., et al.
Publicado: (2023)

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up
por: Alter, Blanche P., et al.
Publicado: (2018)

Minor PNH clones do not distinguish inherited bone marrow failure syndromes from immune-mediated aplastic anemia
por: Narita, Atsushi, et al.
Publicado: (2022)

Erratum: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis
por: Frontiers Production Office,
Publicado: (2022)

Fanconi anemia and dyskeratosis congenita/telomere biology disorders: Two inherited bone marrow failure syndromes with genomic instability
por: Fiesco-Roa, Moisés Ó., et al.
Publicado: (2022)

Role of bronchoscopy in critically ill patients managed in intermediate care units - indications and complications: A narrative review
por: Menditto, Vincenzo G, et al.
Publicado: (2021)

SARS-CoV-2 viral entry and replication is impaired in Cystic Fibrosis airways due to ACE2 downregulation
por: Bezzerri, Valentino, et al.
Publicado: (2023)

Combining nonsense mutation suppression therapy with nonsense-mediated decay inhibition in neurofibromatosis type 1
por: Osum, Sara H., et al.
Publicado: (2023)

Immunogenicity and Safety of the BNT162b2 COVID-19 Vaccine in Patients with Cystic Fibrosis with or without Lung Transplantation
por: Lucca, Francesca, et al.
Publicado: (2023)

Suppression of Nonsense Mutations by New Emerging Technologies
por: Morais, Pedro, et al.
Publicado: (2020)

Case Report: Novel Biallelic Variants in DNAJC21 Causing an Inherited Bone Marrow Failure Spectrum Phenotype: An Odyssey to Diagnosis
por: Chirita-Emandi, Adela, et al.
Publicado: (2022)

A new hypothesis for the bone marrow edema pathogenesis during transient osteoporosis
por: Negri, G., et al.
Publicado: (2006)

Suppressing nonsense—a surprising function for 5-azacytidine
por: Shao, Ada, et al.
Publicado: (2014)

Nonsense mRNA suppression via nonstop decay
por: Arribere, Joshua A, et al.
Publicado: (2018)

Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases
por: Keeling, Kim M.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_jeershv6o6c5iu193141884h35