117 results match your criteria fa-associated genes


Daily full spectrum light exposure prevents food allergy-like allergic diarrhea by modulating vitamin D and microbiota composition.

NPJ Biofilms Microbiomes 2021 May 6;7(1):41. Epub 2021 May 6.

Liver Transplantation Center, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.

The importance of sun exposure on human health is well recognized, and a recent trend in the avoidance of sun exposure has led to the risk of missing the beneficial effects such as vitamin D biogenesis. Vitamin D insufficiency is one of the risk factors for the development of food allergies (FAs), and vitamin D status controls gut homeostasis by modulating the microbiota. This study aimed to explore the impact of daily full spectrum light exposure (phototherapy) on the pathogenesis of FAs. Read More

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Genetics of Food Allergy.

Immunol Allergy Clin North Am 2021 May 26;41(2):301-319. Epub 2021 Mar 26.

Division of Asthma Research, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, 3333 Burnet Avenue, Cincinnati, OH 45229-3026, USA. Electronic address:

The risk factors for food allergy (FA) include both genetic variants and environmental factors. Advances using both candidate-gene association studies and genome-wide approaches have led to the identification of FA-associated genes involved in immune responses and skin barrier functions. Epigenetic changes have also been associated with the risk of FA. Read More

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Fatty acid modulation and desaturase gene expression are differentially triggered in grapevine incompatible interaction with biotrophs and necrotrophs.

Plant Physiol Biochem 2021 Jun 6;163:230-238. Epub 2021 Apr 6.

BioISI - Biosystems & Integrative Sciences Institute, Faculdade de Ciências da Universidade de Lisboa, Lisboa, Portugal. Electronic address:

Grapevine (Vitis vinifera L.) is prone to fungal and oomycete diseases. Downy and powdery mildews and grey mold, are caused by Plasmopara viticola, Erisiphe necator and Botrytis cinerea, respectively. Read More

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Comparative transcriptome analysis reveals ectopic delta-5 and delta-6 desaturases enhance protective gene expression upon Vibrio vulnificus challenge in Tilapia (Oreochromis niloticus).

BMC Genomics 2021 Mar 22;22(1):200. Epub 2021 Mar 22.

Marine Research Station, Institute of Cellular and Organismic Biology, Academia Sinica, 23-10 Dahuen Rd., Jiaushi, Ilan, 262, Taiwan.

Background: Tilapia (Oreochromis niloticus) cultures are frequently infected by Vibrio vulnificus, causing major economic losses to production units. Previously, tilapia expressing recombinant delta-5 desaturase and delta-6 desaturase (D56) were found to be resistant to V. vulnificus infection. Read More

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Diffusion tensor imaging of the visual pathway in dogs with primary angle-closure glaucoma.

Vet Ophthalmol 2021 Mar 29;24 Suppl 1:63-74. Epub 2020 Sep 29.

Clinical Ophthalmology and Eye Health, University of Sydney, Sydney, NSW, Australia.

Objective: To describe measurements of in vivo structures of the visual pathway beyond the retina and optic nerve head associated with canine primary angle-closure glaucoma (PACG).

Methods: A prospective pilot study was conducted using magnetic resonance diffusion tensor imaging (DTI) to obtain quantitative measures of the optic nerve, chiasm, tract, and lateral geniculate nucleus (LGN) in dogs with and without PACG. 3-Tesla DTI was performed on six affected dogs and five breed, age- and sex-matched controls. Read More

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Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex.

Orphanet J Rare Dis 2020 06 1;15(1):133. Epub 2020 Jun 1.

Department of Urology, The Jikei University School of Medicine, Tokyo, Japan.

Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder forming hamartomas throughout the body. Facial angiofibromas (FAs) occur in 75% of TSC patients, which are often enlarged, impairing the appearance of the face, and reducing the patient's quality of life (QOL). The aim of this study was to characterize the impact of topical sirolimus treatment on the health-related QOL in patients with FA associated with TSC. Read More

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Emerging functions of Fanconi anemia genes in replication fork protection pathways.

Hum Mol Genet 2020 10;29(R2):R158-R164

Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore 639798, Singapore.

Germline mutations in Fanconi anemia (FA) genes predispose to chromosome instability syndromes, such as FA and cancers. FA gene products have traditionally been studied for their role in interstrand cross link (ICL) repair. A fraction of FA gene products are classical homologous recombination (HR) factors that are involved in repairing DNA double-strand breaks (DSBs) in an error-free manner. Read More

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October 2020

Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure.

J Clin Invest 2020 06;130(6):2827-2844

German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), Heidelberg, Germany.

Inherited bone marrow failure syndromes (IBMFSs) are a heterogeneous group of disorders characterized by defective hematopoiesis, impaired stem cell function, and cancer susceptibility. Diagnosis of IBMFS presents a major challenge due to the large variety of associated phenotypes, and novel, clinically relevant biomarkers are urgently needed. Our study identified nuclear interaction partner of ALK (NIPA) as an IBMFS gene, as it is significantly downregulated in a distinct subset of myelodysplastic syndrome-type (MDS-type) refractory cytopenia in children. Read More

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Milk metabolites as noninvasive indicators of nutritional status of mid-lactation Holstein and Montbéliarde cows.

J Dairy Sci 2020 Apr 12;103(4):3133-3146. Epub 2020 Feb 12.

INRAE, Université Clermont Auvergne, VetAgro Sup, UMR Herbivores, F-63122 Saint-Genès-Champanelle, France. Electronic address:

The objective was to investigate the effects of feed restriction on concentrations of selected milk metabolites in mid-lactation Holstein and Montbéliarde cows and to explore their correlations with energy balance and classic plasma and milk indicators of nutritional status. Eight Holstein and 10 Montbéliarde cows (165 ± 21 d in milk) underwent 6 d of feed restriction during which feed allowance was reduced to meet 50% of their net energy for lactation (NE) requirements. The experiment was divided in 4 periods: control (CON; d -3 to -1), restriction (RES; d 1 to 6), wk 1 (W1; d 7 to 13), and wk 2 (W2; d 14 to 18) after refeeding at ad libitum intake. Read More

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Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex.

Nucleic Acids Res 2020 04;48(6):3328-3342

Department of Life Science, Pohang University of Science and Technology, Pohang, 37673, Republic of Korea.

Monoubiquitination of the Fanconi anemia complementation group D2 (FANCD2) protein by the FA core ubiquitin ligase complex is the central event in the FA pathway. FANCA and FANCG play major roles in the nuclear localization of the FA core complex. Mutations of these two genes are the most frequently observed genetic alterations in FA patients, and most point mutations in FANCA are clustered in the C-terminal domain (CTD). Read More

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Fanconi anemia and the underlying causes of genomic instability.

Environ Mol Mutagen 2020 08 6;61(7):693-708. Epub 2020 Feb 6.

Department of Pharmacological Sciences, State University of New York at Stony Brook, Stony Brook, New York.

Fanconi anemia (FA) is a rare genetic disorder, characterized by birth defects, progressive bone marrow failure, and a predisposition to cancer. This devastating disease is caused by germline mutations in any one of the 22 known FA genes, where the gene products are primarily responsible for the resolution of DNA interstrand cross-links (ICLs), a type of DNA damage generally formed by cytotoxic chemotherapeutic agents. However, the identity of endogenous mutagens that generate DNA ICLs remains largely elusive. Read More

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Structure of the Fanconi anaemia monoubiquitin ligase complex.

Nature 2019 11 30;575(7781):234-237. Epub 2019 Oct 30.

MRC Laboratory of Molecular Biology, Cambridge, UK.

The Fanconi anaemia (FA) pathway repairs DNA damage caused by endogenous and chemotherapy-induced DNA crosslinks, and responds to replication stress. Genetic inactivation of this pathway by mutation of genes encoding FA complementation group (FANC) proteins impairs development, prevents blood production and promotes cancer. The key molecular step in the FA pathway is the monoubiquitination of a pseudosymmetric heterodimer of FANCD2-FANCI by the FA core complex-a megadalton multiprotein E3 ubiquitin ligase. Read More

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November 2019

The focal adhesion scaffold protein Hic-5 regulates vimentin organization in fibroblasts.

Mol Biol Cell 2019 12 23;30(25):3037-3056. Epub 2019 Oct 23.

Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, NY 13210.

Focal adhesion (FA)-stimulated reorganization of the F-actin cytoskeleton regulates cellular size, shape, and mechanical properties. However, FA cross-talk with the intermediate filament cytoskeleton is poorly understood. Genetic ablation of the FA-associated scaffold protein Hic-5 in mouse cancer-associated fibroblasts (CAFs) promoted a dramatic collapse of the vimentin network, which was rescued following EGFP-Hic-5 expression. Read More

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December 2019

Altered working memory-related brain responses and white matter microstructure in extremely preterm-born children at school age.

Brain Cogn 2019 11 25;136:103615. Epub 2019 Sep 25.

Department of Neuroscience and Biomedical Engineering, Aalto University School of Science, Espoo, Finland; Department of Physiology, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Advanced Magnetic Imaging Centre, Aalto University School of Science, Espoo, Finland. Electronic address:

Preterm birth poses a risk for neurocognitive and behavioral development. Preterm children, who have not been diagnosed with neurological or cognitive deficits, enter normal schools and are expected to succeed as their term-born peers. Here we tested the hypotheses that despite an uneventful development after preterm birth, these children might exhibit subtle abnormalities in brain function and white-matter microstructure at school-age. Read More

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November 2019

Reduced fractional anisotropy in depressed patients due to childhood maltreatment rather than diagnosis.

Neuropsychopharmacology 2019 11 5;44(12):2065-2072. Epub 2019 Aug 5.

Department of Psychiatry, University of Münster, Münster, Germany.

Reduced fractional anisotropy (FA) associated with Major Depressive Disorder (MDD) overlaps anatomically with effects of childhood maltreatment experiences. The aim of this study was, therefore, to replicate the negative effect of childhood maltreatment on white matter fiber structure and to demonstrate, that alterations in MDD might be partially attributed to the higher occurrence of childhood maltreatment in MDD. Two independent cohorts (total N = 1 256) were investigated in a diffusion tensor imaging study: The Münster Neuroimaging Cohort (MNC, N = 186 MDD, N = 210 healthy controls, HC) as discovery sample and the Marburg-Münster Affective Disorders Cohort Study (MACS, N = 397 MDD, N = 462 HC) as replication sample. Read More

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November 2019

Milk fat response and milk fat and urine biomarkers of microbial nitrogen flow during supplementation with 2-hydroxy-4-(methylthio)butanoate.

J Dairy Sci 2019 Jul 2;102(7):6157-6166. Epub 2019 May 2.

Department of Animal Science, Penn State University, University Park 16802. Electronic address:

2-Hydroxy-4-(methylthio)butanoate (HMTBa) is a methionine analog that has been observed to attenuate biohydrogenation (BH)-induced milk fat depression (MFD), possibly through reducing the shift to altered BH pathways. It has also been suggested that HMTBa increases microbial protein synthesis in the rumen. Our objectives were to stimulate BH-induced MFD and (1) verify HMTBa inhibition of BH-induced MFD and changes in milk fatty acids (FA) associated with altered rumen BH (i. Read More

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The Fanconi Anemia Pathway in Cancer.

Annu Rev Cancer Biol 2019 Mar 3;3:457-478. Epub 2018 Dec 3.

Department of Radiation Oncology and Center for DNA Damage and Repair, Dana-Farber Cancer Institute, Boston, Massachusetts 02215, USA;

Fanconi anemia (FA) is a complex genetic disorder characterized by bone marrow failure (BMF), congenital defects, inability to repair DNA interstrand cross-links (ICLs), and cancer predisposition. FA presents two seemingly opposite characteristics: () massive cell death of the hematopoietic stem and progenitor cell (HSPC) compartment due to extensive genomic instability, leading to BMF, and () uncontrolled cell proliferation leading to FA-associated malignancies. The canonical function of the FA proteins is to collaborate with several other DNA repair proteins to eliminate clastogenic (chromosome-breaking) effects of DNA ICLs. Read More

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Limited detection of human polyomaviruses in Fanconi anemia related squamous cell carcinoma.

PLoS One 2018 27;13(12):e0209235. Epub 2018 Dec 27.

Division of Oncology, Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, United States of America.

Fanconi anemia is a rare genome instability disorder with extreme susceptibility to squamous cell carcinoma of the head and neck and anogenital tract. In patients with this inherited disorder, the risk of head and neck cancer is 800-fold higher than in the general population, a finding which might suggest a viral etiology. Here, we analyzed the possible contribution of human polyomaviruses to FA-associated head and neck squamous cell carcinoma (HNSCC) by a pan-polyomavirus immunohistochemistry test which detects the T antigens of all known human polyomaviruses. Read More

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Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.

PLoS Genet 2018 12 12;14(12):e1007821. Epub 2018 Dec 12.

Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America.

Fanconi Anemia (FA) is a genomic instability syndrome resulting in aplastic anemia, developmental abnormalities, and predisposition to hematological and other solid organ malignancies. Mutations in genes that encode proteins of the FA pathway fail to orchestrate the repair of DNA damage caused by DNA interstrand crosslinks. Zebrafish harbor homologs for nearly all known FA genes. Read More

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December 2018

Defective DNA repair in hereditary ovarian cancers: Implications for therapy.

Am J Health Syst Pharm 2018 Nov 18;75(21):1697-1707. Epub 2018 Sep 18.

Precision Medicine Center, University of Kentucky Markey Cancer Center, Lexington, KY, and College of Pharmacy, University of Kentucky, Lexington, KY

Purpose: The role of mutated DNA repair pathways in hereditary ovarian cancer (OC) and the clinical basis for the use of poly(ADP-ribose) polymerase (PARP) enzyme inhibitors and an immune checkpoint inhibitor as novel targeted therapies in the treatment of certain OC subtypes are reviewed.

Summary: OC is the most lethal of all gynecologic malignancies and encompasses a highly diverse collection of cancers. Hereditary OCs are a unique subtype of OC encompassing up to 24% of all OCs, including cancers driven by germline mutations of the or genes, mutations associated with Fanconi anemia (FA), BRCAness germline mutations, and Lynch syndrome. Read More

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November 2018

Focal Adhesions Undergo Longitudinal Splitting into Fixed-Width Units.

Curr Biol 2018 07 14;28(13):2033-2045.e5. Epub 2018 Jun 14.

Department of Biochemistry and Cell Biology, Geisel School of Medicine at Dartmouth, Hanover, NH 03755, USA. Electronic address:

Focal adhesions (FAs) and stress fibers (SFs) act in concert during cell motility and in response to the extracellular environment. Although the structures of mature FAs and SFs are well studied, less is known about how they assemble and mature de novo during initial cell spreading. In this study using live-cell Airyscan microscopy, we find that FAs undergo "splitting" during their assembly, in which the FA divides along its longitudinal axis. Read More

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Delineation of the visual pathway in paediatric optic pathway glioma patients using probabilistic tractography, and correlations with visual acuity.

Neuroimage Clin 2018 11;17:541-548. Epub 2017 Oct 11.

Developmental Imaging & Biophysics Section, University College London Great Ormond Street Institute of Child Health, London, UK.

Background: Radiological biomarkers which correlate with visual function are needed to improve the clinical management of optic pathway glioma (OPG) patients. Currently, these are not available using conventional magnetic resonance imaging (MRI) sequences. The aim of this study was to determine whether diffusion MRI could be used to delineate the entire optic pathway in OPG patients, and provide imaging biomarkers within this pathway which correlate with a patient's visual acuity (VA). Read More

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February 2019

Conformational states during vinculin unlocking differentially regulate focal adhesion properties.

Sci Rep 2018 02 9;8(1):2693. Epub 2018 Feb 9.

Department of Molecular Cell Biology, Weizmann Institute of Science, Rehovot, 7610001, Israel.

Focal adhesions (FAs) are multi-protein complexes that connect the actin cytoskeleton to the extracellular matrix, via integrin receptors. The growth, stability and adhesive functionality of these structures are tightly regulated by mechanical stress, yet, despite the extensive characterization of the integrin adhesome, the detailed molecular mechanisms underlying FA mechanosensitivity are still unclear. Besides talin, another key candidate for regulating FA-associated mechanosensing, is vinculin, a prominent FA component, which possesses either closed ("auto-inhibited") or open ("active") conformation. Read More

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February 2018

Comparable Outcomes after HLA-Matched Sibling and Alternative Donor Hematopoietic Cell Transplantation for Children with Fanconi Anemia and Severe Aplastic Anemia.

Biol Blood Marrow Transplant 2018 04 2;24(4):765-771. Epub 2017 Dec 2.

Division of Blood and Marrow Transplant, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

Fanconi anemia (FA)-associated severe aplastic anemia (SAA) requires allogeneic hematopoietic cell transplantation (HCT) for cure. With the evolution of conditioning regimens over time, outcomes of alternative donor HCT (AD-HCT) have improved dramatically. We compared outcomes of HLA-matched sibling donor HCT (MSD-HCT; n = 17) and AD-HCT (n = 57) performed for FA-associated SAA at a single institution between 2001 and 2016. Read More

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Thermal Stimulation Changes Diffusivity of the Spinothalamic Tract.

Spine (Phila Pa 1976) 2018 06;43(12):E697-E702

Department of Psychology, University of Alabama at Birmingham, University Boulevard, Birmingham, Alabama.

Study Design: An experimental study.

Objective: This study aimed to investigate task-dependent changes in fractional anisotropy (FA) within the spinal cord during painful stimulation.

Summary Of Background Data: Earlier experiments by Mandl et al (2008, 2013) used non-invasive functional diffusion tensor imaging (fDTI) to detect white matter fibers that were active during functional tasks. Read More

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Fanconi-Anemia-Associated Mutations Destabilize RAD51 Filaments and Impair Replication Fork Protection.

Cell Rep 2017 Oct;21(2):333-340

Department of Biology, Masaryk University, 62500 Brno, Czech Republic; International Clinical Research Center, St. Anne's University Hospital, 656 91 Brno, Czech Republic; National Centre for Biomolecular Research, Masaryk University, 62500 Brno, Czech Republic. Electronic address:

Fanconi anemia (FA) is a genetic disorder characterized by a defect in DNA interstrand crosslink (ICL) repair, chromosomal instability, and a predisposition to cancer. Recently, two RAD51 mutations were reported to cause an FA-like phenotype. Despite the tight association of FA/HR proteins with replication fork (RF) stabilization during normal replication, it remains unknown how FA-associated RAD51 mutations affect replication beyond ICL lesions. Read More

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October 2017

Impact of diabetes in the Friedreich ataxia clinical outcome measures study.

Ann Clin Transl Neurol 2017 09 26;4(9):622-631. Epub 2017 Jul 26.

Department of Pediatrics Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania 19104.

Objective: Friedreich ataxia (FA) is a progressive neuromuscular disorder caused by GAA triplet repeat expansions or point mutations in the gene. FA is associated with increased risk of diabetes mellitus (DM). This study assessed the age-specific prevalence of FA-associated DM and its impact on neurologic outcomes. Read More

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September 2017

Structural and functional insights into the interaction between the Cas family scaffolding protein p130Cas and the focal adhesion-associated protein paxillin.

J Biol Chem 2017 11 31;292(44):18281-18289. Epub 2017 Aug 31.

From the Stein Eye Institute, Department of Ophthalmology, David Geffen School of Medicine at UCLA, Los Angeles, California 90095,

The Cas family scaffolding protein p130Cas is a Src substrate localized in focal adhesions (FAs) and functions in integrin signaling to promote cell motility, invasion, proliferation, and survival. p130Cas targeting to FAs is essential for its tyrosine phosphorylation and downstream signaling. Although the N-terminal SH3 domain is important for p130Cas localization, it has also been reported that the C-terminal region is involved in p130Cas FA targeting. Read More

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November 2017

Circulating Docosahexaenoic Acid Associates with Insulin-Dependent Skeletal Muscle and Whole Body Glucose Uptake in Older Women Born from Normal Weight Mothers.

Nutrients 2017 Feb 4;9(2). Epub 2017 Feb 4.

Turku PET Centre, University of Turku, Turku FI-20521, Finland.

Background: Obesity among pregnant women is common, and their offspring are predisposed to obesity, insulin resistance, and diabetes. The circulating metabolites that are related to insulin resistance and are associated with this decreased tissue-specific uptake are unknown. Here, we assessed metabolite profiles in elderly women who were either female offspring from obese mothers (OOM) or offspring of lean mothers (OLM). Read More

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February 2017

Lessons Learned from Two Decades of Clinical Trial Experience in Gene Therapy for Fanconi Anemia.

Curr Gene Ther 2017 ;16(5):338-348

Centro de Investigaciones Energeticas, Medioambientales y Tecnologicas (CIEMAT) Madrid, Spain.

Allogeneic hematopoietic stem cell transplantation is the only curative treatment for patients with the non-malignant bone marrow failure syndrome called Fanconi anemia (FA). However, early and late complications associated with this approach underscore the need for alternative treatments. Gene therapy approaches aiming to correct the genetic defect in the patient's own hematopoietic stem cells remain the most promising strategy to overcome FA-associated bone marrow failure. Read More

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