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Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by bone marrow (BM) failure and cancer susceptibility. Identification of the cDNAs of FA complementation types allows the potential of using gene transfer technology to introduce functional cDNAs as transgenes into autologous stem cells and provide a cure for the BM failure in FA(More)
BACKGROUND Epilepsy is a serious health problem associated with an increased risk of premature mortality. Few studies have investigated risk factors for this. Understanding these risks may enable the implementation of preventative measures to reduce premature mortality. METHODS A management program for convulsive forms of epilepsy has been in place at the(More)
Fanconi anemia (FA) is a complex genetic disorder characterized by congenital abnormalities, bone marrow failure, and myeloid malignancies. Identification of 13 FA genes has been instrumental to explore gene transfer technologies aimed at correction of autologous FA-deficient stem cells. To date, 3 human FA stem cell gene therapy trials with standard 4-day(More)
The SATB2-associated syndrome (SAS) was recently proposed as a clinically recognizable syndrome that results from deleterious alterations of the SATB2 gene in humans. Although interstitial deletions at 2q33 encompassing SATB2, either alone or contiguously with other genes, have been reported before, there is limited literature regarding intragenic mutations(More)
Fanconi anemia (FA) is an inherited chromosomal instability syndrome characterized by bone marrow failure, myelodysplasia (MDS), and acute myeloid leukemia (AML). Eight FA proteins associate in a nuclear core complex to monoubiquitinate FANCD2/FANCI in response to DNA damage. Additional functions have been described for some of the core complex proteins;(More)
Departments of 1Microbiology and Immunology and 2Pediatrics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis; 3Department of Pediatric Oncology, Hematology and Clinical Immunology, Children’s Hospital, Heinrich Heine University, Duesseldorf, Germany; 4Department of Internal Medicine III, University of(More)
Objective: To perform genotype–phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. Methods: We performed whole-exome sequencing in a preterm neonate with congenital arthrogryposis and a severe(More)
OBJECTIVE To perform genotype-phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. METHODS We performed whole-exome sequencing in a preterm neonate with congenital arthrogryposis and a severe(More)
A new vacuum pressure casting technique for fabricating fiber reinforcing metal matrix composites is presented in this paper. This process is somehow like a combination of vacuum infiltration and pressure casting. Without use of an autoclave, the infiltration between a carbon multifiber preform and molten alloy can be performed in vacuum under a high(More)
http://bloodjournal.hematologylibrary.org/content/112/12/4458.full.html Updated information and services can be found at: (3094 articles) Hematopoiesis and Stem Cells • (517 articles) Gene Therapy • Articles on similar topics can be found in the following Blood collections http://bloodjournal.hematologylibrary.org/site/misc/rights.xhtml#repub_requests(More)
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