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https://www.readbyqxmd.com/read/29154021/diagnosis-of-fanconi-anaemia-by-ionising-radiation-or-mitomycin-c-induced-micronuclei
#1
Flavia Zita Francies, Rosalind Wainwright, Janet Poole, Kim De Leeneer, Ilse Coene, Greet Wieme, Hélène A Poirel, Bénédicte Brichard, Stephanie Vermeulen, Anne Vral, Jacobus Slabbert, Kathleen Claes, Ans Baeyens
Fanconi Anaemia (FA) is an autosomal recessive disorder characterised by defects in DNA repair, associated with chromosomal instability and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (MMC). The FA repair pathway involves complex DNA repair mechanisms crucial for genomic stability. Deficiencies in DNA repair genes give rise to chromosomal radiosensitivity. FA patients have shown increased clinical radiosensitivity by exhibiting adverse normal tissue side-effects. The study aimed to investigate chromosomal radiosensitivity of homozygous and heterozygous carriers of FA mutations using three micronucleus (MN) assays...
November 8, 2017: DNA Repair
https://www.readbyqxmd.com/read/29098742/a-comprehensive-approach-to-identification-of-pathogenic-fanca-variants-in-fanconi-anemia-patients-and-their-families
#2
Danielle C Kimble, Francis P Lach, Siobhan Q Gregg, Frank X Donovan, Elizabeth K Flynn, Aparna Kamat, Alice Young, Meghana Vemulapalli, James W Thomas, James C Mullikin, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
Fanconi anemia (FA) is a rare recessive DNA repair deficiency resulting from mutations in one of at least 22 genes. Two-thirds of FA families harbor mutations in FANCA. To genotype patients in the International Fanconi Anemia Registry (IFAR) we employed multiple methodologies, screening 216 families for FANCA mutations. We describe identification of 57 large deletions and 261 sequence variants, in 159 families. All but seven families harbored distinct combinations of two mutations demonstrating high heterogeneity...
November 2, 2017: Human Mutation
https://www.readbyqxmd.com/read/28938540/microrna-128-3p-regulates-mitomycin-c-induced-dna-damage-response-in-lung-cancer-cells-through-repressing-sptan1
#3
Rui Zhang, Chang Liu, Yahan Niu, Ying Jing, Haiyang Zhang, Jin Wang, Jie Yang, Ke Zen, Junfeng Zhang, Chen-Yu Zhang, Donghai Li
The DNA damage response is critical for maintaining genome integrity and preventing damage to DNA due to endogenous and exogenous insults. Mitomycin C (MMC), a potent DNA cross-linker, is used as a chemotherapeutic agent because it causes DNA inter-strand cross-links (DNA ICLs) in cancer cells. While many microRNAs, which may serve as oncogenes or tumor suppressors, are grossly dysregulated in human cancers, little is known about their roles in MMC-treated lung cancer. Here, we report that miR-128-3p can attenuate repair of DNA ICLs by targeting SPTAN1 (αII Sp), resulting in cell cycle arrest and promoting chromosomal aberrations in lung cancer cells treated with MMC...
August 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28899930/therapeutic-gene-editing-in-cd34-hematopoietic-progenitors-from-fanconi-anemia-patients
#4
Begoña Diez, Pietro Genovese, Francisco J Roman-Rodriguez, Lara Alvarez, Giulia Schiroli, Laura Ugalde, Sandra Rodriguez-Perales, Julian Sevilla, Cristina Diaz de Heredia, Michael C Holmes, Angelo Lombardo, Luigi Naldini, Juan Antonio Bueren, Paula Rio
Gene targeting constitutes a new step in the development of gene therapy for inherited diseases. Although previous studies have shown the feasibility of editing fibroblasts from Fanconi anemia (FA) patients, here we aimed at conducting therapeutic gene editing in clinically relevant cells, such as hematopoietic stem cells (HSCs). In our first experiments, we showed that zinc finger nuclease (ZFN)-mediated insertion of a non-therapeutic EGFP-reporter donor in the AAVS1 "safe harbor" locus of FA-A lymphoblastic cell lines (LCLs), indicating that FANCA is not essential for the editing of human cells...
November 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28893156/erythrosine-b-and-quinoline-yellow-dyes-regulate-dna-repair-gene-expression-in-human-hepg2-cells
#5
Farah Md Chequer, Vinicius P Venancio, Mara R Almeida, Alexandre F Aissa, Maria Lourdes P Bianchi, Lusânia Mg Antunes
Erythrosine B (ErB) is a cherry pink food colorant and is widely used in foods, drugs, and cosmetics. Quinoline yellow (QY) is a chinophthalon derivative used in cosmetic compositions for application to the skin, lips, and/or body surface. Previously, ErB and QY synthetic dyes were found to induce DNA damage in HepG2 cells. The aim of this study was to investigate the molecular basis underlying the genotoxicity attributed to ErB and QY using the RT(2) Profiler polymerase chain reaction array and by analyzing the expression profile of 84 genes involved in cell cycle arrest, apoptosis, and DNA repair in HepG2 cells...
October 2017: Toxicology and Industrial Health
https://www.readbyqxmd.com/read/28870985/whole-exome-sequencing-gives-additional-benefits-compared-to-candidate-gene-sequencing-in-the-molecular-diagnosis-of-children-with-growth-hormone-or-igf-1-insensitivity
#6
Lucy Shapiro, Sumana Chatterjee, Dina G Ramadan, Kate M Davies, Martin O Savage, Louise A Metherell, Helen L Storr
BACKGROUND: GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE: To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome sequencing (WES) and assess factors associated with the discovery of a genetic defect...
December 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28864460/a-germline-fanca-alteration-that-is-associated-with-increased-sensitivity-to-dna-damaging-agents
#7
David C Wilkes, Verena Sailer, Hui Xue, Hongwei Cheng, Colin C Collins, Martin Gleave, Yuzhuo Wang, Francesca Demichelis, Himisha Beltran, Mark A Rubin, David S Rickman
Defects in genes involved in DNA damage repair (DDR) pathway are emerging as novel biomarkers and targets for new prostate cancer drug therapies. A previous report revealed an association between an exceptional response to cisplatin treatment and a somatic loss of heterozygosity (LOH) of FANCA in a patient with metastatic prostate cancer who also harbored a germline FANCA variant (S1088F). Although germline FANCA mutations are the most frequent alterations in patients with Fanconi anemia, germline alterations are less common in prostate cancer...
September 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28837157/biallelic-truncating-fancm-mutations-cause-early-onset-cancer-but-not-fanconi-anemia
#8
Massimo Bogliolo, Dominique Bluteau, James Lespinasse, Roser Pujol, Nadia Vasquez, Catherine Dubois d'Enghien, Dominique Stoppa-Lyonnet, Thierry Leblanc, Jean Soulier, Jordi Surrallés
PurposeMutations in genes involved in Fanconi anemia (FA)/BRCA DNA repair pathway cause cancer susceptibility diseases including familial breast cancer and Fanconi anemia (FA). A single FA patient with biallelic FANCM mutations was reported in 2005 but concurrent FANCA pathogenic mutations precluded assignment of FANCM as an FA gene. Here we report three individuals with biallelic FANCM truncating mutations who developed early-onset cancer and toxicity to chemotherapy but did not present congenital malformations or any hematological phenotype suggestive of FA...
August 24, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28816065/improved-hematopoietic-gene-therapy-in-a-mouse-model-of-fanconi-anemia-mediated-by-mesenchymal-stromal-cells
#9
Maria Fernandez-Garcia, Maria Lamana Luzuriaga, Miriam Hernando-Rodriguez, Rebeca Sanchez-Dominguez, Juan Bueren, Rosa Yañez
In this study we propose a novel approach based on the use of mesenchymal stromal cells (MSC) aiming at limiting risks of graft failure in gene therapy protocols associated with low conditioning regimens. Because the engraftment of corrected hematopoietic stem cells (HSCs) is particularly challenging in Fanconi anemia (FA), we have investigated the relevance of MSCs in an experimental model of FA gene therapy. Our results firstly showed that risks of graft failure in recipients conditioned with a moderate dose of 5Gy and infused with limited numbers of WT HSCs are significantly higher in Fanca-/- recipients as compared to WT recipients...
August 17, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28801449/engraftment-and-in-vivo-proliferation-advantage-of-gene-corrected-mobilized-cd34-cells-from-fanconi-anemia-patients
#10
Paula Río, Susana Navarro, Guillermo Guenechea, Rebeca Sánchez-Domínguez, Maria Luisa Lamana, Rosa Yañez, Jose A Casado, Parinda A Mehta, Maria Roser Pujol, Jordi Surrallés, Sabine Charrier, Anne Galy, José C Segovia, Cristina Díaz de Heredia, Julián Sevilla, Juan A Bueren
Previous Fanconi anemia (FA) gene therapy studies have failed to demonstrate engraftment of gene-corrected hematopoietic stem and progenitor cells (HSPCs) from FA patients, either after autologous transplantation or infusion into immunodeficient mice. In this study, we demonstrate that a validated short transduction protocol of G-CSF plus plerixafor-mobilized CD34(+) cells from FA-A patients with a therapeutic FANCA-lentiviral vector corrects the phenotype of in vitro cultured hematopoietic progenitor cells...
September 28, 2017: Blood
https://www.readbyqxmd.com/read/28753783/gene-expression-profiling-of-advanced-penile-squamous-cell-carcinoma-receiving-cisplatin-based-chemotherapy-improves-prognostication-and-identifies-potential-therapeutic-targets
#11
Andrea Necchi, Bernhard J Eigl, Eddy Shih-Hsin Yang, Sejong Bae, Darshan Chandrashekar, Dongquan Chen, Gurudatta Naik, Amitkumar Mehta, Patrizia Giannatempo, Maurizio Colecchia, Jennifer Gordetsky, Shi Wei, Tiffiny Cooper, Sooryanarayana Varambally, Guru Sonpavde
In men with advanced penile squamous cell carcinoma receiving first-line chemotherapy, visceral metastases (VM) and Eastern Cooperative Oncology Group performance status ≥1 are poor prognostic factors for overall survival (OS). We hypothesized that tumor gene expression profiling may enhance prognostic stratification and identify potential therapeutic targets. In this retrospective study, RNA extracted from macrodissected tumors underwent profiling for the expression of 738 genes using NanoString. Univariate and multivariate analyses assessed the association of genes, VM, and performance status with OS...
August 27, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28717661/a-strategy-for-molecular-diagnostics-of-fanconi-anemia-in-brazilian-patients
#12
Daniela V Pilonetto, Noemi F Pereira, Carmem M S Bonfim, Lisandro L Ribeiro, Marco A Bitencourt, Lianne Kerkhoven, Karijn Floor, Najim Ameziane, Hans Joenje, Johan J P Gille, Ricardo Pasquini
BACKGROUND: Fanconi anemia (FA) is a predominantly autosomal recessive disease with wide genetic heterogeneity resulting from mutations in several DNA repair pathway genes. To date, 21 genetic subtypes have been identified. We aimed to identify the FA genetic subtypes in the Brazilian population and to develop a strategy for molecular diagnosis applicable to routine clinical use. METHODS: We screened 255 patients from Hospital de Clínicas, Universidade Federal do Paraná for 11 common FA gene mutations...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28666371/the-identification-of-fancd2-dna-binding-domains-reveals-nuclear-localization-sequences
#13
Joshi Niraj, Marie-Christine Caron, Karine Drapeau, Stéphanie Bérubé, Laure Guitton-Sert, Yan Coulombe, Anthony M Couturier, Jean-Yves Masson
Fanconi anemia (FA) is a recessive genetic disorder characterized by congenital abnormalities, progressive bone-marrow failure, and cancer susceptibility. The FA pathway consists of at least 21 FANC genes (FANCA-FANCV), and the encoded protein products interact in a common cellular pathway to gain resistance against DNA interstrand crosslinks. After DNA damage, FANCD2 is monoubiquitinated and accumulates on chromatin. FANCD2 plays a central role in the FA pathway, using yet unidentified DNA binding regions...
August 21, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28627524/screening-for-mutations-in-two-exons-of-fancg-gene-in-pakistani-population
#14
Ujala Aymun, Saima Iram, Iram Aftab, Saba Khaliq, Ali Nadir, Ahmed Nisar, Shahida Mohsin
BACKGROUND: Fanconi anemia is a rare autosomal recessive disorder of genetic instability. It is both molecularly and clinically, a heterogeneous disorder. Its incidence is 1 in 129,000 births and relatively high in some ethnic groups. Sixteen genes have been identified among them mutations in FANCG gene are most common after FANCA and FANCC gene mutations. OBJECTIVE: To study mutations in exon 3 and 4 of FANCG gene in Pakistani population. METHODS: Thirty five patients with positive Diepoxybutane test were included in the study...
June 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28544907/micrornas-that-affect-the-fanconi-anemia-brca-pathway-are-downregulated-in-imatinib-resistant-chronic-myeloid-leukemia-patients-without-detectable-bcr-abl-kinase-domain-mutations
#15
E Yap, Z A Norziha, A Simbun, N R Tumian, S K Cheong, C F Leong, C L Wong
Chronic myeloid leukemia (CML) patients who do not achieve landmark responses following treatment with imatinib mesylate (IM) are considered IM-resistant. Although IM-resistance can be due to BCR-ABL kinase domain (KD) mutations, many IM-resistant patients do not have detectable BCR-ABL KD mutations. MicroRNAs (miRNAs) are short non-coding RNAs that control gene expression. To investigate the role of miRNAs in IM-resistance, we recruited 8 chronic phase CML patients with IM-resistance who tested negative for BCR-ABL KD mutations and 2 healthy normal controls...
August 2017: Leukemia Research
https://www.readbyqxmd.com/read/28524082/cellular-repair-of-dna-dna-cross-links-induced-by-1-2-3-4-diepoxybutane
#16
Lisa N Chesner, Amanda Degner, Dewakar Sangaraju, Shira Yomtoubian, Susith Wickramaratne, Bhaskar Malayappan, Natalia Tretyakova, Colin Campbell
Xenobiotic-induced interstrand DNA-DNA cross-links (ICL) interfere with transcription and replication and can be converted to toxic DNA double strand breaks. In this work, we investigated cellular responses to 1,4-bis-(guan-7-yl)-2,3-butanediol (bis-N7G-BD) cross-links induced by 1,2,3,4-diepoxybutane (DEB). High pressure liquid chromatography electrospray ionization tandem mass spectrometry (HPLC-ESI⁺-MS/MS) assays were used to quantify the formation and repair of bis-N7G-BD cross-links in wild-type Chinese hamster lung fibroblasts (V79) and the corresponding isogenic clones V-H1 and V-H4, deficient in the XPD and FANCA genes, respectively...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28493158/common-variable-immunodeficiency-caused-by-fanc-mutations
#17
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which are known to be the cause of different diseases, have recently been reported as the cause of CVID in patients by performing whole exome sequencing (WES) analysis. Here, we found FANC gene mutations as a cause of adult-onset CVID in two patients. B cells were absent and CD4(+) T cells were skewed toward CD45RO(+) memory T cells. T-cell receptor excision circles (TRECs) and signal joint kappa-deleting recombination excision circles (sjKRECs) were undetectable in both patients...
July 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28475398/persistent-response-of-fanconi-anemia-haematopoietic-stem-and-progenitor-cells-to-oxidative-stress
#18
Yibo Li, Surya Amarachintha, Andrew F Wilson, Xue Li, Wei Du
Oxidative stress is considered as an important pathogenic factor in many human diseases including Fanconi anemia (FA), an inherited bone marrow failure syndrome with extremely high risk of leukemic transformation. Members of the FA protein family are involved in DNA damage and other cellular stress responses. Loss of FA proteins renders cells hypersensitive to oxidative stress and cancer transformation. However, how FA cells respond to oxidative DNA damage remains unclear. By using an in vivo stress-response mouse strain expressing the Gadd45β-luciferase transgene, we show here that haematopoietic stem and progenitor cells (HSPCs) from mice deficient for the FA gene Fanca or Fancc persistently responded to oxidative stress...
June 18, 2017: Cell Cycle
https://www.readbyqxmd.com/read/28440412/a-rare-fanca-gene-variation-as-a-breast-cancer-susceptibility-allele-in-an-iranian-population
#19
Sakineh Abbasi, Mina Rasouli
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure and Fanconi anemia complementation group A (FANCA) is also a potential breast and ovarian cancer susceptibility gene. A novel allele with tandem duplication of 13 base pair sequence in promoter region was identified. To investigate whether the 13 base pair sequence of tandem duplication in promoter region of the FANCA gene is of high penetrance in patients with breast cancer and to determine if the presence of the duplicated allele was associated with an altered risk of breast cancer, the present study screened DNA in blood samples from 304 breast cancer patients and 295 normal individuals as controls...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28395741/generation-of-an-induced-pluripotent-stem-cell-line-that-mimics-the-disease-phenotypes-from-a-patient-with-fanconi-anemia-by-conditional-complementation
#20
Sumitha Prameela Bharathan, Krittika Nandy, Dhavapriya Palani, Nancy Beryl Janet A, Kasthuri Natarajan, Biju George, Alok Srivastava, Shaji Ramachandran Velayudhan
Generation of Fanconi anemia (FA) patient-specific induced pluripotent stem cells (iPSCs) has been reported to be technically challenging due to the defects in the FA-pathway in the patients' somatic cells. By inducible complementation of FA-pathway, we successfully reprogrammed the fibroblasts of an FA patient to iPSCs. CSCR19i-indCFANCA, one of the iPSC lines generated by the inducible complementation of FA-pathway, was extensively characterized for its pluripotency and karyotype. In the absence of doxycycline (DOX) and FANCA expression, this line showed the cellular phenotypes of FA, suggesting it is an excellent tool for FA disease modeling and drug screening...
April 2017: Stem Cell Research
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