Cargando…

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emerging. The purpose of this work was to assess wheth...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Ferrata Storti Foundation 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830397/ https://www.ncbi.nlm.nih.gov/pubmed/29269525 http://dx.doi.org/10.3324/haematol.2017.176131

Ejemplares similares

Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40
por: Comar, Manola, et al.
Publicado: (2013)

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation
por: Persico, Ilaria, et al.
Publicado: (2023)

Esophageal cancer as initial presentation of Fanconi anemia in patients with a hypomorphic FANCA variant
por: Lach, Francis P., et al.
Publicado: (2020)

Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology
por: Nicchia, Elena, et al.
Publicado: (2015)

The passage from bone marrow niche to bloodstream triggers the metabolic impairment in Fanconi Anemia mononuclear cells
por: Cappelli, Enrico, et al.
Publicado: (2020)

Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event
por: Persico, Ilaria, et al.
Publicado: (2023)

FANCA Gene Mutations in North African Fanconi Anemia Patients
por: Ben Haj Ali, Abir, et al.
Publicado: (2021)

Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex
por: Jeong, Eunyoung, et al.
Publicado: (2020)

A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A
por: Cappelli, Enrico, et al.
Publicado: (2021)

FANCA Gene Mutations with 8 Novel Molecular Changes in Indian Fanconi Anemia Patients
por: Solanki, Avani, et al.
Publicado: (2016)

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome
por: Ravera, Silvia, et al.
Publicado: (2016)

Investigation of FANCA gene in Fanconi anaemia patients in Iran
por: Saffar Moghadam, Ali Akbar, et al.
Publicado: (2016)

Genetic variants in Fanconi Anemia Pathway Genes BRCA2 and FANCA Predict Melanoma Survival
por: Yin, Jieyun, et al.
Publicado: (2014)

Dysregulated Ca(2+) Homeostasis in Fanconi anemia cells
por: Usai, Cesare, et al.
Publicado: (2015)

Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia
por: Bertola, Nadia, et al.
Publicado: (2023)

Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1
por: Bertola, Nadia, et al.
Publicado: (2023)

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report
por: Repczynska, Anna, et al.
Publicado: (2020)

Generating New FANCA-Deficient HNSCC Cell Lines by Genomic Editing Recapitulates the Cellular Phenotypes of Fanconi Anemia
por: Errazquin, Ricardo, et al.
Publicado: (2021)

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia
por: Repczynska, Anna, et al.
Publicado: (2022)

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis
por: Amouri, Ahlem, et al.
Publicado: (2014)

Treatment of FANCA Cells with Resveratrol and N-Acetylcysteine: A Comparative Study
por: Columbaro, Marta, et al.
Publicado: (2014)

Mutated FANCA Gene Role in the Modulation of Energy Metabolism and Mitochondrial Dynamics in Head and Neck Squamous Cell Carcinoma
por: Bertola, Nadia, et al.
Publicado: (2022)

Fanconi anemia - learning from children
por: Svahn, Johanna, et al.
Publicado: (2011)

Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress
por: Tomaszowski, Karl-Heinz, et al.
Publicado: (2023)

Mutated Fanconi anemia pathway in non-Fanconi anemia cancers
por: Shen, Yihang, et al.
Publicado: (2015)

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?
por: Bottega, Roberta, et al.
Publicado: (2019)

Fanconi anemia and vaginal squamous cell carcinoma
por: Dias, Altamiro Ribeiro, et al.
Publicado: (2012)

The Fanconi anemia pathway and ubiquitin
por: Jacquemont, Céline, et al.
Publicado: (2007)

The 13th Fanconi Anemia Gene Identified: FANCI – Importance of the ‘Fanconi Anemia Pathway’ for Cellular Oncology
por: Meijer, Gerrit A.
Publicado: (2007)

Honey, chromosomal breakage and fanconi anemia
por: Wiwanitkit, Somsri, et al.
Publicado: (2012)

The Fanconi Anemia Pathway of Genomic Maintenance
por: Levitus, Marieke, et al.
Publicado: (2006)

Oral lesions associated with Fanconi anemia
por: Stoopler, Eric T., et al.
Publicado: (2017)

Focal Point of Fanconi Anemia Signaling
por: Zhan, Sudong, et al.
Publicado: (2021)

Coregulation of FANCA and BRCA1 in human cells
por: Haitjema, Anneke, et al.
Publicado: (2014)

Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis
por: Oostra, Anneke B., et al.
Publicado: (2012)

Mutations of the SLX4 gene in Fanconi anemia
por: Kim, Yonghwan, et al.
Publicado: (2011)

Update of the human and mouse Fanconi anemia genes
por: Dong, Hongbin, et al.
Publicado: (2015)

Current and emerging therapeutic strategies for Fanconi anemia
por: Shukla, Pallavi, et al.
Publicado: (2012)

Recent advances in understanding hematopoiesis in Fanconi Anemia
por: Bagby, Grover
Publicado: (2018)

Cutaneous Manifestations of Fanconi's Anemia in Two Siblings
por: Singh, Satyendra K., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_3buvlk110h5hrh9eq90vpm0qv8