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Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.
Lancet
December 2025
Biomedical Innovation Unit, Center for Research on Energy, Environment and Technology (CIEMAT), Madrid, Spain; Biomedical Network Research Center for Rare Diseases (CIBERER), Madrid, Spain; Sanitary Research Institute Fundación Jiménez Díaz (U.A.M), Madrid, Spain. Electronic address:
Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.
Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.
Testis cell pyroptosis mediated by CASP1 and CASP4: possible sertoli cell-only syndrome pathogenesis.
Reprod Biol Endocrinol
June 2023
The First School of Clinical Medicine, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Background: Sertoli cell-only syndrome (SCOS) is the most serious pathological type of non-obstructive azoospermia. Recently, several genes related to SCOS have been identified, including FANCM, TEX14, NR5A1, NANOS2, PLK4, WNK3, and FANCA, but they cannot fully explain the pathogenesis of SCOS. This study attempted to explain spermatogenesis dysfunction in SCOS through testicular tissue RNA sequencing and to provide new targets for SCOS diagnosis and therapy.
View Article and Find Full Text PDFThe neglected members of the family: non-BRCA mutations in the Fanconi anemia/BRCA pathway and reproduction.
Hum Reprod Update
February 2022
Department of Obstetrics and Gynecology, Chaim Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.
Background: BReast CAncer (BRCA) genes are extensively studied in the context of fertility and reproductive aging. BRCA proteins are part of the DNA repair Fanconi anemia (FA)/BRCA pathway, in which more than 20 proteins are implicated. According to which gene is mutated and which interactions are lost owing to the mutation, carriers and patients with monoallelic or biallelic FA/BRCA mutations exhibit very different phenotypes, from overt FA to cancer predisposition or no pathological implications.
View Article and Find Full Text PDFA new step in understanding stem cell mobilization in patients with Fanconi anemia: A bridge to gene therapy.
Transfusion
January 2022
Biotherapy Department, Hôpital Necker Enfants Malades, Asistance Publique-Hôpitaux de Paris, Universite de Paris, Paris, France.
Article Synopsis
- Fanconi anemia (FA) is a genetic disorder that can cause problems like failing bone marrow and a higher risk of cancer.
- A new study tested using two medicines, G-CSF and plerixafor, to help collect stem cells from people with FA for gene therapy.
- The results showed that this method was safe and helped gather stem cells more effectively, especially in younger patients without severe bone marrow issues.
Modifying splice site usage with : Maintaining the while changing the underlying .
Comput Struct Biotechnol J
May 2021
Institute of Virology, Medical Faculty, Heinrich Heine University Düsseldorf, D-40225 Düsseldorf, Germany.
Codon degeneracy of amino acid sequences permits an additional "mRNP code" layer underlying the genetic code that is related to RNA processing. In pre-mRNA splicing, splice site usage is determined by both intrinsic strength and sequence context providing RNA binding sites for splicing regulatory proteins. In this study, we systematically examined modification of splicing regulatory properties in the neighborhood of a GT site, i.
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