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Open AccessCorrection: Functional redundancy between Apc and Apc2 regulates tissue homeostasis and prevents tumorigenesis in murine mammary epithelium
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Open AccessCHARIOT: a phase I study of berzosertib with chemoradiotherapy in oesophageal and other solid cancers using time to event continual reassessment method
Berzosertib (M6620) is a highly potent (IC50 = 19 nM) and selective, first-in-class ataxia telangiectasia-mutated and Rad3-related protein kinase (ATR) inhibitor. This trial assessed the safety, preliminary ...
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Open AccessAssociation study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation
Acute Graft versus Host Disease (aGvHD) grades 2–4 occurs in 15–60% of pediatric patients undergoing allogeneic haematopoietic stem-cell transplantation (allo-HSCT). The collateral damage to normal tissue by c...
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Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder
The study of monozygotic twins discordant for attention deficit hyperactivity disorder can elucidate mechanisms that contribute to the disorder, which affects ~7% of children. First, using in vivo neuroanatomic i...
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Article
Open AccessFunctional redundancy between Apc and Apc2 regulates tissue homeostasis and prevents tumorigenesis in murine mammary epithelium
Aberrant Wnt signaling within breast cancer is associated with poor prognosis, but regulation of this pathway in breast tissue remains poorly understood and the consequences of immediate or long-term dysregula...
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Thermal Bake-Out of Reduction Cell Cathodes — Advantages and Problem Areas
Electrical bake-out of reduction cell cathodes is the predominant method of preparing cathodes for the start of electrolytic operations. Several electrical methods are employed, including resistor coke bed, gr...
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Subcortical and cortical morphological anomalies as an endophenotype in obsessive-compulsive disorder
Endophentoypes, quantifiable traits lying on the causal chain between a clinical phenotype and etiology, can be used to accelerate genomic discovery in obsessive-compulsive disorder (OCD). Here we identify the...
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Open AccessEvidence for a time-dependent association between FOLR1 expression and survival from ovarian carcinoma: implications for clinical testing. An Ovarian Tumour Tissue Analysis consortium study
Folate receptor 1 (FOLR1) is expressed in the majority of ovarian carcinomas (OvCa), making it an attractive target for therapy. However, clinical trials testing anti-FOLR1 therapies in OvCa show mixed results...
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Article
Open AccessFrequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer
Mutations in genes for hereditary non-polyposis colorectal cancer (HNPCC) in ovarian cancer patients remains poorly defined. We sought to estimate the frequency and characteristics of HNPCC gene mutations in a...
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Long-term follow-up of HCV-infected hematopoietic SCT patients and effects of antiviral therapy
This prospective study was initiated in 1993 with the aim to study late effects and responses to antiviral therapy in a cohort of hepatitis C virus (HCV)-infected patients. A total of 195 patients were include...
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Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene
To determine the genetic basis of myotonia congenita (MC) and strabismus in a large Caucasian family.
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Erratum: Regionally limited or rare infections: prevention after hematopoietic cell transplantation
Guidelines for preventing infectious complications among hematopoietic cell transplant recipients: a global perspective Tomblyn M, Chiller T, Einsele H, Gress R, Sepkowitz K, Storek J, Wingard JR, Young J-AH, ...
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Caspase-1 and ASC but not NLRP3 mediate antifungal defense in candidiasis sepsis
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Regionally limited or rare infections: prevention after hematopoietic cell transplantation
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Effects of the Val158Met catechol-O-methyltransferase polymorphism on cortical structure in children and adolescents
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Neuregulin 1 (8p12) and childhood-onset schizophrenia: susceptibility haplotypes for diagnosis and brain developmental trajectories
Childhood-onset schizophrenia (COS), defined as onset of psychosis by the age of 12, is a rare and malignant form of the illness, which may have more salient genetic influence. Since the initial report of asso...
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Intellectual ability and cortical development in children and adolescents
Here's a subject guaranteed to cause controversy: the relationship between intelligence, measured by IQ tests, and physical brain development in children and adolescents. A study that followed 307 typically de...
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Outbreaks of infectious diseases in stem cell transplant units: a silent cause of death for patients and transplant programmes
Following the closure of the National Blood and Bone Marrow Transplant Unit in Dublin, because of an outbreak of vancomycin-resistant enterococcal infection, a survey was carried out by the EBMT to investigate...
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Terminology for sample collection in clinical genetic studies
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An unusual case of intrapulmonary granulocytic sarcoma presenting as interstitial pneumonitis following allogeneic bone marrow transplantation for acute myeloid leukaemia and responding to donor lymphocyte infusion
We report a 45-year-old female with AML who underwent a T cell-depleted sibling allograft and relapsed a year later with extramedullary disease involving the lung parenchyma and presenting with the clinical an...
