Cargando…

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

BACKGROUND: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome. However, establishing its molecular diagnosis remains challenging. Chromosomal breakage analysis is the gold standard diagnostic test for this disease. Nevertheless, molecular analysis is always required for t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Repczynska, Anna, Julga, Katarzyna, Skalska-Sadowska, Jolanta, Kacprzak, Magdalena M., Bartoszewska-Kubiak, Alicja, Lazarczyk, Ewelina, Loska, Damian, Drozniewska, Malgorzata, Czerska, Kamila, Wachowiak, Jacek, Haus, Olga
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295492/ https://www.ncbi.nlm.nih.gov/pubmed/35854323 http://dx.doi.org/10.1186/s13023-022-02424-4

Ejemplares similares

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

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

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

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia
por: Bottega, Roberta, et al.
Publicado: (2018)

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

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

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

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

Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
por: Pasińska, Magdalena, et al.
Publicado: (2018)

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

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures
por: Lazarczyk, Ewelina, et al.
Publicado: (2014)

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)

Prenatal identification of partial 3q duplication syndrome
por: Pasińska, Magdalena, et al.
Publicado: (2019)

Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation
por: Pasińska, Magdalena, et al.
Publicado: (2022)

The Levels of Pregnancy-Associated Plasma Protein (PAPP-A) and Chorionic Gonadotropin (β-hCG) in the Blood Serum of Women with Hypothyroidism in the 1st Trimester of Pregnancy
por: Pasińska, Magdalena, et al.
Publicado: (2023)

Myeloid sarcoma in children – diagnostic and therapeutic difficulties
por: Samborska, Magdalena, et al.
Publicado: (2017)

Outcome of refractory and relapsed acute myeloid leukemia in children treated during 2005–2011 – experience of the Polish Pediatric Leukemia/Lymphoma Study Group (PPLLSG)
por: Skalska-Sadowska, Jolanta, et al.
Publicado: (2014)

PAX3 gene deletion detected by microarray analysis in a girl with hearing loss
por: Drozniewska, Malgorzata, et al.
Publicado: (2014)

Selected Parameters of Angiogenesis and the JAK2, CALR, and MPL Mutations in Patients With Essential Thrombocythemia
por: Gadomska, Grażyna, et al.
Publicado: (2018)

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

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

Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2022)

Rare variants in FANCA induce premature ovarian insufficiency
por: Yang, Xi, et al.
Publicado: (2019)

From KIT-mutated into wild-type: dedifferentiation of gastrointestinal stromal tumor in adolescent patient—a case report
por: Andrzejewska, Marta, et al.
Publicado: (2023)

FANCA Polymorphism Is Associated with the Rate of Proliferation in Uterine Leiomyoma in Korea
por: Ha, Eunyoung, et al.
Publicado: (2020)

Fanca deficiency is associated with alterations in osteoclastogenesis that are rescued by TNFα
por: Oppezzo, Alessia, et al.
Publicado: (2023)

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome
por: Junkiert-Czarnecka, Anna, et al.
Publicado: (2022)

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

Health status of Polish children and adolescents after cancer treatment
por: Krawczuk-Rybak, Maryna, et al.
Publicado: (2017)

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

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

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

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)

Does FANCA Assist CENP-E in Architectural Organization of Chromosomes at Spindle Equator?
por: El-Arabey, Amr Ahmed, et al.
Publicado: (2018)

A germline FANCA alteration that is associated with increased sensitivity to DNA damaging agents
por: Wilkes, David C., et al.
Publicado: (2017)

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

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

Cannot write session to /tmp/vufind_sessions/sess_p27qqvj4dq68n42jopmbf9a2bg