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Fanconi Anemia

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https://www.readbyqxmd.com/read/29767366/expression-profiling-of-differentially-regulated-genes-in-fanconi-anemia
#1
Binita Zipporah E, Kavitha Govarthanan, Pavithra Shyamsunder, Rama S Verma
Gene expression analysis mainly helps to study gene quantification methods by using various downstream detection approaches like imaging, amplification, probe hybridization, or sequencing. With respect to DNA, which is less static, mRNA levels vary over time, between cell types under divergent conditions. Gene expression analysis is principally focused on determination of mRNA levels transcribed from DNA. DNA microarrays are one of the robust and powerful tools to detect changes in multiple transcripts in larger cohorts in parallel...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29760432/microcephaly-short-stature-and-limb-abnormality-disorder-due-to-novel-autosomal-biallelic-donson-mutations-in-two-german-siblings
#2
Solveig Schulz, Martin A Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim Kentouche
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia. This occurred because the present cases exhibited clinical findings in addition to those of the microcephalic primordial dwarfism disorder, including severe limb malformations. These findings suggest that the DONSON and Fanconi anemia proteins could have supplementary roles in developmental processes as they have in the maintenance of genomic integrity, resulting in related disease phenotypes...
May 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29744075/graves-orbitopathy-after-allogeneic-bone-marrow-transplantation-in-a-patient-with-fanconi-anemia-side-effect-of-alemtuzumab-therapy
#3
Luminita Nicoleta Cima, Ioana Maria Lambrescu, Lavinia Stejereanu, Anca Colita, Reuven Or, Simona Fica
A few cases of thyroid eye disease following alemtuzumab therapy have been described in patients with multiple sclerosis. Our patient is the first case of Graves' orbitopathy after alemtuzumab conditioning for hematopoietic stem cell transplantation.
May 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29734785/the-guardian-of-the-genome-revisited-p53-downregulates-genes-required-for-telomere-maintenance-dna-repair-and-centromere-structure
#4
REVIEW
Eléonore Toufektchan, Franck Toledo
The p53 protein has been extensively studied for its capacity to prevent proliferation of cells with a damaged genome. Surprisingly, however, our recent analysis of mice expressing a hyperactive mutant p53 that lacks the C-terminal domain revealed that increased p53 activity may alter genome maintenance. We showed that p53 downregulates genes essential for telomere metabolism, DNA repair, and centromere structure and that a sustained p53 activity leads to phenotypic traits associated with dyskeratosis congenita and Fanconi anemia...
May 6, 2018: Cancers
https://www.readbyqxmd.com/read/29719599/fanconi-anemia-and-homologous-recombination-gene-variants-are-associated-with-functional-dna-repair-defects-in-vitro-and-poor-outcome-in-patients-with-advanced-head-and-neck-squamous-cell-carcinoma
#5
Caroline V M Verhagen, David M Vossen, Kerstin Borgmann, Floor Hageman, Reidar Grénman, Manon Verwijs-Janssen, Lisanne Mout, Roel J C Kluin, Marja Nieuwland, Tesa M Severson, Arno Velds, Ron Kerkhoven, Mark J O'Connor, Martijn van der Heijden, Marie-Louise van Velthuysen, Marcel Verheij, Volkert B Wreesmann, Lodewyk F A Wessels, Michiel W M van den Brekel, Conchita Vens
Mutations in Fanconi Anemia or Homologous Recombination (FA/HR) genes can cause DNA repair defects and could therefore impact cancer treatment response and patient outcome. Their functional impact and clinical relevance in head and neck squamous cell carcinoma (HNSCC) is unknown. We therefore questioned whether functional FA/HR defects occurred in HNSCC and whether they are associated with FA/HR variants. We assayed a panel of 29 patient-derived HNSCC cell lines and found that a considerable fraction is hypersensitive to the crosslinker Mitomycin C and PARP inhibitors, a functional measure of FA/HR defects...
April 6, 2018: Oncotarget
https://www.readbyqxmd.com/read/29712865/mechanism-for-survival-of-homozygous-nonsense-mutations-in-the-tumor-suppressor-gene-brca1
#6
Aaron Seo, Orna Steinberg-Shemer, Sule Unal, Silvia Casadei, Tom Walsh, Fatma Gumruk, Stavit Shalev, Akiko Shimamura, Nurten Ayse Akarsu, Hannah Tamary, Mary-Claire King
BRCA1 is essential for repair of DNA double-strand breaks by homologous recombination, and hence for survival. Complete loss of its function is lethal during early embryonic development. Patients who are compound heterozygous for BRCA1 truncating mutations and missense alleles that retain some DNA repair capacity may survive, albeit with very high risk of early onset breast or ovarian cancer and features of Fanconi anemia. However, a mechanism enabling survival of patients homozygous for BRCA1 truncating mutations has not been described...
April 30, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29707407/variants-associated-with-infantile-cholestatic-syndromes-detected-in-extrahepatic-biliary-atresia-by-whole-exome-studies-a-20-case-series-from-thailand
#7
Surasak Sangkhathat, Wison Laochareonsuk, Wanwisa Maneechay, Kanita Kayasut, Piyawan Chiengkriwate
Biliary atresia (BA) is the most severe form of obstructive cholangiopathy occurring in infants. Definitive diagnosis of BA usually relies on operative findings together with supporting pathological patterns found in the extrahepatic bile duct. In infancy, overlapping clinical patterns of cholestasis can be found in other diseases including biliary hypoplasia and progressive familial intrahepatic cholestasis. In addition, BA has been reported as a phenotype in some rare genetic syndromes. Unlike BA, other cholangiopathic phenotypes have their own established genetic markers...
June 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29702541/novel-variations-of-fanca-gene-provokes-fanconi-anemia-molecular-diagnosis-in-a-special-chinese-family
#8
Niu Li, Aiyun Song, Lixia Ding, Hua Zhu, Guoqiang Li, Yan Miao, Jian Wang, Benshang Li, Jing Chen
Fanconi anemia (FA) is a rare autosomal recessive or X-linked disorder with highly variable clinical manifestations and an incidence of ∼1 to 5 in 1 million births. To date, 15 bona fide FA genes have been reported to be responsible for the known FA complementation groups and the FANCA gene accounts for almost 60%. In the present study, we report a special Chinese family, which has 2 children with classic FA characteristics. Via 2-step analysis of the whole-exome sequencing data and verification using multiplex ligation-dependent probe amplification test, one child was found to have a novel compound heterozygous mutation of a splicing variant (c...
April 26, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29673308/withdrawn-allogeneic-stem-cell-transplantation-in-fanconi-anemia-and-other-inherited-bone-marrow-failure-disorders
#9
(no author information available yet)
Withdrawn by the publisher.
April 19, 2018: Current Drug Targets
https://www.readbyqxmd.com/read/29668547/trilineage-hematopoiesis-induced-by-low-dose-eltrombopag-in-a-patient-with-fanconi-anemia-can-be-used-as-a-bridge-to-hematopoietic-stem-cell-transplant
#10
Ashish Gupta, Rasmi Palassery, Howard Meyerson, Sanjay Ahuja, Yousif Matloub
Fanconi anemia (FA) is an autosomal recessive, progressive bone marrow failure disorder characterized by congenital defects and marked cancer predisposition. Hematopoietic stem cell transplant is the therapy of choice for FA patients with progressive pancytopenia. These patients receive multiple transfusions for cytopenias. Oxymetholone has been used with variable success to improve cytopenias. Eltrombopag has been shown to induce bilineage or trilineage hematopoiesis in aplastic anemia and patients with myelodysplastic marrow...
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29650274/oral-cancer-in-fanconi-anemia-review-of-121-cases
#11
REVIEW
Camila Pinheiro Furquim, Allana Pivovar, José Miguel Amenábar, Carmem Bonfim, Cassius Carvalho Torres-Pereira
Fanconi anemia (FA) is a rare autosomal recessive genetic disorder characterized by aplastic anemia, progressive pancytopenia, congenital anomalies, and increased risk of cancer development. After hematopoietic stem cell transplant (HSCT), patients have an estimated 500-fold increase in the risk of developing head and neck cancer compared to a non-affected, and the oral cavity is affected in one-third of cases. Thus, this study aimed to better understand the natural history of oral cavity cancer in patients affected by FA...
May 2018: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/29621589/identification-of-rare-heterozygous-missense-mutations-in-fanca-in-esophageal-atresia-patients-using-next-generation-sequencing
#12
Yu Feng, Runsen Chen, Min Da, Bo Qian, Xuming Mo
Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively common malformations in newborns, but the etiology of EA/TEF remains unknown. Fanconi anemia (FA) complementation group A (FANCA) is a key component of the FA core complex and is essential for the activation of the DNA repair pathway. The middle region (amino acids 674-1208) of FANCA is required for its interaction with FAAP20. We performed targeted sequencing of this binding region of FANCA (exons 23-36) in 40 EA/TEF patients. We also investigated the effect of the p...
April 2, 2018: Gene
https://www.readbyqxmd.com/read/29606637/oral-epithelial-dysplasia-atypical-verrucous-lesions-and-oral-potentially-malignant-disorders-focus-on-histopathology
#13
REVIEW
Susan Müller
The term oral potentially malignant disorders (OPMDs) describes a recognizable group of mucosal diseases that have a risk of progressing to squamous cell carcinoma. Oral leukoplakia, the most common OPMD, has a 1% prevalence and reported malignant transformation rates of 2% to 5%. Other OPMDs include erythroplakia, erythroleukoplakia, submucous fibrosis, lesions of reverse smokers, and inherited genetic disorders, such as Fanconi anemia. The histopathologic assessment of OPMDs is an area of subjectivity, and oral epithelial dysplasia (OED) is fraught with both interrater variability and intrarater variability...
March 1, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29605812/targeted-mass-spectrometry-enables-robust-quantification-of-fancd2-mono-ubiquitination-in-response-to-dna-damage
#14
Jeffrey R Whiteaker, Lei Zhao, Richard G Ivey, Marilyn Sanchez-Bonilla, Heather D Moore, Regine M Schoenherr, Ping Yan, Chenwei Lin, Akiko Shimamura, Amanda G Paulovich
The Fanconi anemia pathway is an important coordinator of DNA repair pathways and is particularly relevant to repair of DNA inter-strand crosslinks. Central to the pathway is monoubiquitination of FANCD2, requiring the function of multiple proteins in an upstream Fanconi core complex. We present development and analytical characterization of a novel assay for quantification of unmodified and monoubiquitinated FANCD2 proteoforms, based on peptide immunoaffinity enrichment and targeted multiple reaction monitoring mass spectrometry (immuno-MRM)...
March 21, 2018: DNA Repair
https://www.readbyqxmd.com/read/29597073/p21-activated-kinase-1-nuclear-activity-and-its-role-during-dna-damage-repair
#15
REVIEW
Eloy Andrés Pérez-Yépez, Héctor Iván Saldívar-Cerón, Olga Villamar-Cruz, Carlos Pérez-Plasencia, Luis Enrique Arias-Romero
p21-activated kinase 1 (PAK1) is a serine/threonine kinase activated by the small GTPases Rac1 and Cdc42. It is located in the chromosome 11q13 and is amplified and/or overexpressed in several human cancer types including 25-30% of breast tumors. This enzyme plays a pivotal role in the control of a number of fundamental cellular processes by phosphorylating its downstream substrates. In addition to its role in the cytoplasm, it is well documented that PAK1 also plays crucial roles in the nucleus participating in mitotic events and gene expression through its association and/or phosphorylation of several transcription factors, transcriptional co-regulators and cell cycle-related proteins, including Aurora kinase A (AURKA), polo-like kinase 1 (PLK1), the forkhead transcription factor (FKHR), estrogen receptor α (ERα), and Snail...
March 21, 2018: DNA Repair
https://www.readbyqxmd.com/read/29588287/fanconi-anemia-fancm-fncm-1-and-fancd2-fcd-2-are-required-for-maintaining-histone-methylation-levels-and-interact-with-the-histone-demethylase-lsd1-spr-5-in-caenorhabditis-elegans
#16
Hyun-Min Kim, Sara E Beese-Sims, Monica P Colaiácovo
The histone demethylase LSD1 was originally discovered as removing methyl groups from di- and monomethylated histone H3 lysine 4 (H3K4me2/1). Several studies suggest LSD1 plays roles in meiosis as well as in the epigenetic regulation of fertility given that in its absence there is evidence of a progressive accumulation of H3K4me2 and increased sterility through generations. In addition to the progressive sterility phenotype observed in the mutants, growing evidence for the importance of histone methylation in the regulation of DNA damage repair has attracted more attention to the field in recent years...
March 27, 2018: Genetics
https://www.readbyqxmd.com/read/29584588/amelioration-of-head-and-neck-radiation-induced-mucositis-and-distant-marrow-suppression-in-fanca-and-fancg-mice-by-intraoral-administration-of-gs-nitroxide-jp4-039
#17
John Willis, Michael W Epperly, Renee Fisher, Xichen Zhang, Donna Shields, Wen Hou, Hong Wang, Song Li, Peter Wipf, Kalindi Parmar, Eva Guinan, Justin Steinman, Joel S Greenberger
Squamous cell carcinomas of the head and neck are appearing with increased frequency in both marrow transplanted and non-transplanted Fanconi anemia (FA) patients. FA patients commonly display radiosensitivity of epithelial tissues, complicating effective radiotherapy. Fancd2-/- mice (C57BL/6J and 129/Sv background) demonstrate epithelial tissue sensitivity to single-fraction or fractionated irradiation to the head and neck and distant marrow suppression (abscopal effect), both ameliorated by intraoral administration of the mitochondrial-targeted antioxidant, GS-nitroxide, JP4-039...
March 27, 2018: Radiation Research
https://www.readbyqxmd.com/read/29577315/the-recq-like-helicase-hrq1-is-involved-in-dna-crosslink-repair-in-arabidopsis-in-a-common-pathway-with-the-fanconi-anemia-associated-nuclease-fan1-and-the-postreplicative-repair-atpase-rad5a
#18
Sarah Röhrig, Annika Dorn, Janina Enderle, Angelina Schindele, Natalie J Herrmann, Alexander Knoll, Holger Puchta
RecQ helicases are important caretakers of genome stability and occur in varying copy numbers in different eukaryotes. Subsets of RecQ paralogs are involved in DNA crosslink (CL) repair. The orthologs of AtRECQ2, AtRECQ3 and AtHRQ1, HsWRN, DmRECQ5 and ScHRQ1 participate in CL repair in their respective organisms, and we aimed to define the function of these helicases for plants. We obtained Arabidopsis mutants of the three RecQ helicases and determined their sensitivity against CL agents in single- and double-mutant analyses...
March 25, 2018: New Phytologist
https://www.readbyqxmd.com/read/29562469/-treatment-of-four-cases-of-fanconi-anemia-by-allogeneic-hematopoietic-stem-cell-transplantation-with-low-intensity-conditional-regimen
#19
H Hou, Y H Yao, J Lu, P F Xiao, X N Bian, H Liu, D X Hu, J Ling, J Li, Z Zhai, L J Kong, S Y Hu
Objective: To evaluate the efficiency and safety of low intensity conditional regimen for children with Fanconi anemia (FA) receiving allogenic hematopoietic stem cells transplantation (allo-HSCT). Methods: Four patients diagnosed as Fanconi anemia were enrolled in this study. One patient received HLA-identical sibling donor hematopoietic stem cell transplantation, two patients underwent unrelated donor matched (UD) HSCT, and one patient received unrelated cord blood transplantation. The conditional regimen consisted of Busulfan with low dose of cyclophosphamide...
March 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29559578/the-colibactin-genotoxin-generates-dna-interstrand-cross-links-in-infected-cells
#20
Nadège Bossuet-Greif, Julien Vignard, Frédéric Taieb, Gladys Mirey, Damien Dubois, Claude Petit, Eric Oswald, Jean-Philippe Nougayrède
Colibactins are hybrid polyketide-nonribosomal peptides produced by Escherichia coli , Klebsiella pneumoniae , and other Enterobacteriaceae harboring the pks genomic island. These genotoxic metabolites are produced by pks -encoded peptide-polyketide synthases as inactive prodrugs called precolibactins, which are then converted to colibactins by deacylation for DNA-damaging effects. Colibactins are bona fide virulence factors and are suspected of promoting colorectal carcinogenesis when produced by intestinal E...
March 20, 2018: MBio
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