Search Results - "Hubank, Mike"
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A global profile of replicative polymerase usage
Published in Nature structural & molecular biology (01-03-2015)“…Genome-wide DNA polymerase usage maps determined in fission yeast, using a new sequencing strategy based on ribonucleotide misincorporation, track the division…”
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2
Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients
Published in Clinical infectious diseases (15-03-2015)“…Background. An 18-month-old boy developed encephalopathy, for which extensive investigation failed to identify an etiology, 6 weeks after stem cell transplant…”
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3
Photoreceptor precursors derived from three-dimensional embryonic stem cell cultures integrate and mature within adult degenerate retina
Published in Nature biotechnology (01-08-2013)“…Optic cup-like structures generated from mouse ES cells produce photoreceptor precursors that integrate and mature in vivo in three models of retinal…”
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Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
Published in Journal of medical genetics (01-04-2013)“…Clinical interpretation of the large number of rare variants identified by high throughput sequencing (HTS) technologies is challenging. The aim of this study…”
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5
Inactivating NF1 Mutations Are Enriched in Advanced Breast Cancer and Contribute to Endocrine Therapy Resistance
Published in Clinical cancer research (01-02-2020)“…Advanced breast cancer (ABC) has not been subjected to the same degree of molecular scrutiny as early primary cancer. Breast cancer evolves with time and under…”
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Same Exposure but Two Radically Different Responses to Antibiotics: Resilience of the Salivary Microbiome versus Long-Term Microbial Shifts in Feces
Published in mBio (10-11-2015)“…Due to the spread of resistance, antibiotic exposure receives increasing attention. Ecological consequences for the different niches of individual microbiomes…”
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7
High throughput sequencing in acute lymphoblastic leukemia reveals clonal architecture of central nervous system and bone marrow compartments
Published in Haematologica (Roma) (01-03-2018)Get full text
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8
Mutations in ALK signaling pathways conferring resistance to ALK inhibitor treatment lead to collateral vulnerabilities in neuroblastoma cells
Published in Molecular cancer (10-06-2022)“…Development of resistance to targeted therapies has tempered initial optimism that precision oncology would improve poor outcomes for cancer patients…”
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Isolation and Comparative Transcriptome Analysis of Human Fetal and iPSC-Derived Cone Photoreceptor Cells
Published in Stem cell reports (12-12-2017)“…Loss of cone photoreceptors, crucial for daylight vision, has the greatest impact on sight in retinal degeneration. Transplantation of stem cell-derived…”
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High‐throughput sequencing of peripheral blood for minimal residual disease monitoring in childhood precursor B‐cell acute lymphoblastic leukemia: A prospective feasibility study
Published in Pediatric blood & cancer (01-03-2022)“…Background Minimal residual disease (MRD) measured on end‐of‐induction bone marrow (BM) is the most important biomarker for guiding therapy in pediatric acute…”
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The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
Published in Journal of medical genetics (01-03-2015)“…Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown…”
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12
Transcriptional instability during evolving sepsis may limit biomarker based risk stratification
Published in PloS one (27-03-2013)“…Sepsis causes extensive morbidity and mortality in children worldwide. Prompt recognition and timely treatment of sepsis is critical in reducing morbidity and…”
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13
Global analysis of gene expression in NGF-deprived sympathetic neurons identifies molecular pathways associated with cell death
Published in BMC genomics (08-11-2011)“…Developing sympathetic neurons depend on nerve growth factor (NGF) for survival and die by apoptosis after NGF withdrawal. This process requires de novo gene…”
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A genomic atlas of human adrenal and gonad development
Published in Wellcome open research (2017)“…In humans, the adrenal glands and gonads undergo distinct biological events between 6-10 weeks post conception (wpc), such as testis determination, the onset…”
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15
Prox1 maintains muscle structure and growth in the developing heart
Published in Development (Cambridge) (01-02-2009)“…Impaired cardiac muscle growth and aberrant myocyte arrangement underlie congenital heart disease and cardiomyopathy. We show that cardiac-specific…”
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A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing
Published in PloS one (08-05-2014)“…Li-Fraumeni syndrome is caused by germline TP53 mutations and is clinically characterized by a predisposition to a range of cancers, most commonly sarcoma,…”
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Risk HLA-DQA1 and PLA2R1 Alleles in Idiopathic Membranous Nephropathy
Published in The New England journal of medicine (17-02-2011)Get full text
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Sterol O-Acyltransferase 1 (SOAT1, ACAT) Is a Novel Target of Steroidogenic Factor-1 (SF-1, NR5A1, Ad4BP) in the Human Adrenal
Published in The journal of clinical endocrinology and metabolism (01-04-2011)“…We used up- and down-regulation of the nuclear receptor steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) to identify new components of adrenal function and…”
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Subtype-Specific FBXW7 Mutation and MYCN Copy Number Gain in Wilms' Tumor
Published in Clinical cancer research (01-04-2010)“…Wilms' tumor (WT), the most common pediatric renal malignancy, is associated with mutations in several well-characterized genes, most notably WT1, CTNNB1, WTX,…”
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Cord blood transplantation recapitulates fetal ontogeny with a distinct molecular signature that supports CD4+ T-cell reconstitution
Published in Blood advances (14-11-2017)“…Omission of in vivo T-cell depletion promotes rapid, thymic-independent CD4+-biased T-cell recovery after cord blood transplant. This enhanced T-cell…”
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