Adenine base editing efficiently restores the function of Fanconi anemia hematopoietic stem and progenitor cells
SM Siegner, L Ugalde, A Clemens… - Nature …, 2022 - nature.com
Fanconi Anemia (FA) is a debilitating genetic disorder with a wide range of severe
symptoms including bone marrow failure and predisposition to cancer. CRISPR-Cas …
symptoms including bone marrow failure and predisposition to cancer. CRISPR-Cas …
The Fanconi anemia ubiquitin E3 ligase complex as an anti-cancer target
Agents that induce DNA damage can cure some cancers. However, the side effects of
chemotherapy are severe because of the indiscriminate action of DNA-damaging agents on …
chemotherapy are severe because of the indiscriminate action of DNA-damaging agents on …
[HTML][HTML] Clinical and genetic features of Fanconi anemia associated with a variant of FANCA gene: case report and literature review
L Zhong, W Zhang, K Zhang, C Li, X Mu, Y Chu, Z Gai… - Medicine, 2024 - journals.lww.com
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Rare variants in FANCA induce premature ovarian insufficiency
X Yang, X Zhang, J Jiao, F Zhang, Y Pan, Q Wang… - Human genetics, 2019 - Springer
Premature ovarian insufficiency (POI) is a major cause of reduced female fertility and affects
approximately 1% women under 40 years of age. Recent advances emphasize the genetic …
approximately 1% women under 40 years of age. Recent advances emphasize the genetic …
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility
R Ramanagoudr-Bhojappa, B Carrington… - PLoS …, 2018 - journals.plos.org
Fanconi Anemia (FA) is a genomic instability syndrome resulting in aplastic anemia,
developmental abnormalities, and predisposition to hematological and other solid organ …
developmental abnormalities, and predisposition to hematological and other solid organ …
Clinical response of the novel activating ALK-I1171T mutation in neuroblastoma to the ALK inhibitor ceritinib
Tumors with anaplastic lymphoma kinase (ALK) fusion rearrangements, including non-small-
cell lung cancer and anaplastic large cell lymphoma, are highly sensitive to ALK tyrosine …
cell lung cancer and anaplastic large cell lymphoma, are highly sensitive to ALK tyrosine …
Association of clinical severity with FANCB variant type in Fanconi anemia
M Jung, R Ramanagoudr-Bhojappa… - Blood, The Journal …, 2020 - ashpublications.org
Fanconi anemia (FA) is the most common genetic cause of bone marrow failure and is
caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X …
caused by inherited pathogenic variants in any of 22 genes. Of these, only FANCB is X …
[HTML][HTML] Transcriptome-Wide Association Study Reveals New Molecular Interactions Associated with Melanoma Pathogenesis
Simple Summary The journey of discovering melanoma—the most dangerous type of skin
cancer—biomarkers is never-ending. Under that assumption, this study attempts to partially …
cancer—biomarkers is never-ending. Under that assumption, this study attempts to partially …
[HTML][HTML] Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients
Fanconi anemia is a rare recessive disease characterized by multiple congenital
abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It …
abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It …
Inflammatory leiomyosarcoma/rhabdomyoblastic tumor: a report of two cases with novel genetic findings
M Sukhanova, F Obeidin, L Streich… - Genes, Chromosomes …, 2022 - Wiley Online Library
Inflammatory leiomyosarcoma (ILMS) is a malignant neoplasm showing smooth muscle
differentiation, a prominent inflammatory infiltrate, and near‐haploidization. These tumors …
differentiation, a prominent inflammatory infiltrate, and near‐haploidization. These tumors …