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Fanconi Anemia

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https://www.readbyqxmd.com/read/28067886/dose-adapted-post-transplant-cyclophosphamide-for-hla-haploidentical-transplantation-in-fanconi-anemia
#1
M S Thakar, C Bonfim, M C Walters, R Storb, R Pasquini, L Burroughs, B M Sandmaier, A Woolfrey, H-P Kiem
We developed a haploidentical transplantation protocol with post-transplant cyclophosphamide (CY) for in vivo T-cell depletion (TCD) using a novel adapted-dosing schedule (25 mg/kg on days +3 and +4) for Fanconi anemia (FA). With median follow-up of 3 years (range, 37 days to 6.2 years), all six patients engrafted. Two patients with multiple pre-transplant comorbidities died, one from sepsis and one from sepsis with associated chronic GVHD. Four patients without preexisting comorbidities and early transplant referrals are alive with 100% donor chimerism and excellent performance status...
January 9, 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28067166/stem-cell-genetic-therapy-for-fanconi-anemia-a-new-hope
#2
Helmut Hanenberg, Katharina Roellecke, Constanze Wiek
Fanconi anemia (FA) is a rare inherited DNA disorder clinically characterized by congenital malformations, progressive bone marrow failure, and cancer susceptibility. Due to a strong survival advantage of spontaneously corrected 'normal' hematopoietic stem cells (HSCs) in a few patients, FA is considered a model disorder for genetic correction of autologous stem cells, where genetically corrected stem cells and their progeny have a strong in vivo selective advantage, ultimately leading to normal hematopoiesis...
January 9, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28067165/gene-therapy-in-fanconi-anemia-a-matter-of-time-safety-and-gene-transfer-tool-efficiency
#3
Verhoeyen Els, Francisco José Román Rodríguez, François-Loïc Cosset, Camille Lévy, Paula Rio
Fanconi anemia (FA) is a rare genetic syndrome characterized by progressive marrow failure. Gene therapy by infusion of FA-corrected autologous hematopoietic stem cells (HSCs) may offer a potential cure since it is a monogenetic disease with mutations in the FANC genes, coding for DNA repair enzymes (See review[1]). However, the collection of hCD34 +-cells in FA patients implies particular challenges because of the reduced numbers of progenitor cells present in their bone marrow (BM)[2] or mobilized peripheral blood[3-5]...
January 9, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28060124/fanconi-anemia-a-rarely-considered-cause-of-macrocytosis-during-childhood
#4
Deniz Aslan
We describe a Turkish boy newly diagnosed with Fanconi anemia with mutation in the FANCA gene. The patient, with normal clinical phenotype and negative chromosomal breakage test result, presented with macrocytosis. No clinical or laboratory changes were observed in a follow-up period of 4 years. The diagnosis was confirmed molecularly after a prolonged and exhaustive investigation. He was found to be a compound heterozygote for 2 mutations in the FANCA gene (1 of which is novel, c.4261-2A>C). We present this experience to alert physicians that Fanconi anemia should be considered in the differential diagnosis of otherwise unexplained macrocytosis during childhood...
January 5, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28024295/characterization-of-two-novel-fancg-mutations-in-indian-fanconi-anemia-patients
#5
Avani Solanki, C Kumar Selvaa, Frenny Sheth, Nita Radhakrishnan, Manas Kalra, Babu Rao Vundinti
FA is a rare recessive genetic disorder with autosomal or X-linked mode of inheritance and is associated with 19 different FA complementation groups. We have studied three patients clinically diagnosed as FA. All three patients showed a high frequency chromosomal breakage in MMC induced blood cultures and FANCD2 non-monoubiquitination by western blotting. The molecular analysis using direct sequencing revealed two novel mutations in FANCG; 2 novel mutations c.1143+5G>C and c.883dupG, and a reported mutation c...
November 29, 2016: Leukemia Research
https://www.readbyqxmd.com/read/28012539/systematic-review-and-individual-patient-data-analysis-of-pediatric-head-and-neck-squamous-cell-carcinoma-an-analysis-of-217-cases
#6
V Bhanu Prasad, Supriya Mallick, Ashish Dutt Upadhyay, G K Rath
INTRODUCTION: Pediatric head and neck Squamous cell carcinoma (PHNSCC) is a rare disease. The optimum treatment and outcome remains poorly understood because of rarity. METHODS: We conducted an individual patient data analysis of PHNSCC. Two authors independently searched PubMed, google search, and Cochrane library for eligible studies using following search words: Pediatric Head and neck squamous cell carcinoma, Head and neck squamous cell carcinoma under age of 20, Head and neck squamous cell carcinoma in young, PHNSCC till June 1, 2016 published in English language...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28007957/molecular-portrait-of-metastasis-competent-circulating-tumor-cells-in-colon-cancer-reveals-the-crucial-role-of-genes-regulating-energy-metabolism-and-dna-repair
#7
Catherine Alix-Panabières, Laure Cayrefourcq, Thibault Mazard, Thierry Maudelonde, Eric Assenat, Said Assou
BACKGROUND: Unraveling the molecular mechanisms that regulate the biology of metastasis-competent circulating tumor cells (CTCs) is urgently needed to understand metastasis formation and tumor relapse. Our group previously established the first cell line (CTC-MCC-41) derived from metastasis-competent CTCs of a patient with colon cancer. METHODS: In this study, we analyzed the transcriptome of CTC-MCC-41 cells using Human Genome U133 Plus 2.0 microarrays with the aim of unraveling the molecular basis of their special features (stem cell properties and ability to initiate and support metastasis formation)...
December 22, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27998970/a-phase-i-trial-of-paclitaxel-cisplatin-and-veliparib-in-the-treatment-of-persistent-or-recurrent-carcinoma-of-the-cervix-an-nrg-oncology-study-nct-01281852
#8
P H Thaker, R Salani, W E Brady, H A Lankes, D E Cohn, D G Mutch, R S Mannel, K M Bell-McGuinn, P A DiSilvestro, D Jelovac, J S Carter, W Duan, K E Resnick, D S Dizon, C Aghajanian, P M Fracasso
BACKGROUND: Preclinical studies demonstrate poly (ADP-ribose) polymerase (PARP) inhibition augments apoptotic response and sensitizes cervical cancer cells to the effects of cisplatin. Given the use of cisplatin and paclitaxel as first-line treatment for persistent or recurrent cervical cancer, we aimed to estimate the maximum tolerated dose (MTD) of the PARP inhibitor veliparib when added to chemotherapy. PATIENTS AND METHODS: Women with persistent or recurrent cervical carcinoma not amenable to curative therapy were enrolled...
December 19, 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/27998889/kit-blockade-is-sufficient-for-donor-hematopoietic-stem-cell-engraftment-in-fanconi-anemia-mice
#9
Shanmuganathan Chandrakasan, Rajeswari Jayavaradhan, John Ernst, Archana Shrestha, Anastacia Loberg, Phillip Dexheimer, Michael Jordan, Qishen Pang, Bruce Aronow, Punam Malik
No abstract text is available yet for this article.
December 20, 2016: Blood
https://www.readbyqxmd.com/read/27989548/dna-replication-and-inter-strand-crosslink-repair-symmetric-activation-of-dimeric-nanomachines
#10
Paolo Swuec, Alessandro Costa
Eukaryotic DNA replication initiation and the Fanconi anemia pathway of interstrand crosslink repair both revolve around the recruitment of a set of DNA-processing factors onto a dimeric protein complex, which functions as a loading platform (MCM and FANCI-FANCD2 respectively). Here we compare and contrast the two systems, identifying a set of unresolved mechanistic questions. How is the dimeric loading platform assembled on the DNA? How can equivalent covalent modification of both factors in a dimer be achieved? Are multicomponent DNA-interacting machines built symmetrically around their dimeric loading platform? Recent biochemical reconstitution studies are starting to shed light on these issues...
November 10, 2016: Biophysical Chemistry
https://www.readbyqxmd.com/read/27987078/heterogeneous-diagnoses-underlying-radial-ray-anomalies
#11
Rosalba Sevilla-Montoya, Mónica Aguinaga, Alejandro Martínez, Guadalupe Razo, Bertha Molina, Sara Frías, Patricia Grether
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy...
December 17, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27986592/the-fa-core-complex-contains-a-homo-dimeric-catalytic-module-for-the-symmetric-mono-ubiquitination-of-fanci-fancd2
#12
Paolo Swuec, Ludovic Renault, Aaron Borg, Fenil Shah, Vincent J Murphy, Sylvie van Twest, Bram Snijders, Andrew J Deans, Alessandro Costa
Activation of the main DNA interstrand crosslink repair pathway in higher eukaryotes requires mono-ubiquitination of FANCI and FANCD2 by FANCL, the E3 ligase subunit of the Fanconi anemia core complex. FANCI and FANCD2 form a stable complex; however, the molecular basis of their ubiquitination is ill defined. FANCD2 mono-ubiquitination by FANCL is stimulated by the presence of the FANCB and FAAP100 core complex components, through an unknown mechanism. How FANCI mono-ubiquitination is achieved remains unclear...
December 9, 2016: Cell Reports
https://www.readbyqxmd.com/read/27986371/mechanism-of-ubiquitination-and-deubiquitination-in-the-fanconi-anemia-pathway
#13
Sylvie van Twest, Vincent J Murphy, Charlotte Hodson, Winnie Tan, Paolo Swuec, Julienne J O'Rourke, Jörg Heierhorst, Wayne Crismani, Andrew J Deans
Monoubiquitination and deubiquitination of FANCD2:FANCI heterodimer is central to DNA repair in a pathway that is defective in the cancer predisposition syndrome Fanconi anemia (FA). The "FA core complex" contains the RING-E3 ligase FANCL and seven other essential proteins that are mutated in various FA subtypes. Here, we purified recombinant FA core complex to reveal the function of these other proteins. The complex contains two spatially separate FANCL molecules that are dimerized by FANCB and FAAP100. FANCC and FANCE act as substrate receptors and restrict monoubiquitination to the FANCD2:FANCI heterodimer in only a DNA-bound form...
December 9, 2016: Molecular Cell
https://www.readbyqxmd.com/read/27980104/the-fa-brca-pathway-identified-as-the-major-predictor-of-cisplatin-response-in-head-and-neck-cancer-by-functional-genomics
#14
Sanne R Martens-de Kemp, Arjen Brink, Ida H van der Meulen, Renee X De Menezes, Dennis E Te Beest, C Rene Leemans, Victor W van Beusechem, Boudewijn J M Braakhuis, Ruud H Brakenhoff
Patients with advanced stage head and neck squamous cell carcinoma (HNSCC) are often treated with cisplatin-containing chemoradiation protocols. Although cisplatin is an effective radiation sensitizer, it causes severe toxicity and not all patients benefit from the combination treatment. HNSCCs expectantly not responding to cisplatin may better be treated with surgery and postoperative radiation or cetuximab and radiation, but biomarkers to personalize chemoradiotherapy, are not available. We performed an unbiased genome-wide functional genetic screen in vitro to identify genes that influence the response to cisplatin in HNSCC cells...
December 15, 2016: Molecular Cancer Therapeutics
https://www.readbyqxmd.com/read/27979864/metformin-treating-the-cause-of-fanconi-anemia
#15
Gerry P Crossan
No abstract text is available yet for this article.
December 15, 2016: Blood
https://www.readbyqxmd.com/read/27976488/azacitidine-as-a-bridge-to-allogeneic-hematopoietic-cell-transplantation-in-a-pediatric-patient-with-fanconi-anemia-and-acute-myeloid-leukemia
#16
Hilda Ding, Hasan Hashem, Linda Cabral, Hemalatha Rangarajan, Ghada Abusin, Hillard M Lazarus, Rolla Abu-Arja
HCT is the definitive therapy for patients with FA and AML. Conventional cytotoxic agents cause potential DNA damage, and currently, there is no established regimen for these patients prior to HCT. A 13-year-old male with FA and refractory AML was given azacitidine, achieved morphologic remission and underwent HCT. At 95 days after HCT, he relapsed. Azacitidine along with DLI was used as first salvage therapy. Azacitidine was overall well tolerated with minimal side effects. In patients with AML and FA, azacitidine can be considered an alternative to conventional chemotherapy...
December 15, 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27956467/linc-complexes-promote-homologous-recombination-in-part-through-inhibition-of-nonhomologous-end-joining
#17
Katherine S Lawrence, Erin C Tapley, Victor E Cruz, Qianyan Li, Kayla Aung, Kevin C Hart, Thomas U Schwartz, Daniel A Starr, JoAnne Engebrecht
The Caenorhabditis elegans SUN domain protein, UNC-84, functions in nuclear migration and anchorage in the soma. We discovered a novel role for UNC-84 in DNA damage repair and meiotic recombination. Loss of UNC-84 leads to defects in the loading and disassembly of the recombinase RAD-51. Similar to mutations in Fanconi anemia (FA) genes, unc-84 mutants and human cells depleted of Sun-1 are sensitive to DNA cross-linking agents, and sensitivity is rescued by the inactivation of nonhomologous end joining (NHEJ)...
December 19, 2016: Journal of Cell Biology
https://www.readbyqxmd.com/read/27929686/hematopoietic-cell-transplantation-in-fanconi-anemia-current-evidence-challenges-and-recommendations
#18
Christen L Ebens, Margaret L MacMillan, John E Wagner
Hematopoietic cell transplantation for Fanconi Anemia (FA) has improved dramatically over the past 40 years. With an enhanced understanding of the intrinsic DNA-repair defect and pathophysiology of hematopoietic failure and leukemogenesis, sequential changes to conditioning and graft engineering have significantly improved the expectation of survival after allogeneic hematopoietic cell transplantation (alloHCT) with incidence of graft failure decreased from 35% to <10% and acute graft-versus-host disease (GVHD) from >40% to <10%...
January 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/27915139/impairment-of-fetal-hematopoietic-stem-cell-function-in-the-absence-of-fancd2
#19
Sakiko Suzuki, Ronny R Racine, Nathan A Manalo, Sharon B Cantor, Glen D Raffel
Fanconi Anemia (FA), results from mutations in genes necessary for DNA damage repair and often leads to progressive bone marrow failure. Although the exhaustion of the bone marrow leads to cytopenias in FA patients as they age, evidence from human FA and mouse model fetal livers suggests hematopoietic defects originate in utero which may lead to deficient seeding of the bone marrow. To address this possibility, we examined the consequences of loss of Fancd2, a central component of the FA pathway. Examination of E14...
November 30, 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27913467/transplantation-for-bone-marrow-failure-current-issues
#20
Régis Peffault de Latour
The preferred treatment of idiopathic aplastic anemia (AA) is allogeneic hematopoietic stem cell transplantation (HSCT) from a human leukocyte antigen (HLA)-identical sibling donor. Transplantation from a well-matched unrelated donor (MUD) may be considered for patients without a sibling donor after failure of immunosuppressive therapy, as may alternative transplantation (mismatched, cord blood or haplo-identical HSCT) for patients without a MUD. HSCT may also be contemplated for congenital disorders in cases of pancytopenia or severe isolated cytopenia...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
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