Search Results - "HOFMAN, I"
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RPL5 on 1p22.1 is recurrently deleted in multiple myeloma and its expression is linked to bortezomib response
Published in Leukemia (01-08-2017)“…Chromosomal region 1p22 is deleted in ⩾20% of multiple myeloma (MM) patients, suggesting the presence of an unidentified tumor suppressor. Using…”
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Relation between finger cold-induced vasodilation and rewarming speed after cold exposure
Published in European journal of applied physiology (01-01-2019)“…Purpose The risk for local cold injuries has been linked to poor cold-induced vasodilation (CIVD) during cold exposure and to poor rewarming after cold…”
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ACCELERATED RNA SPLICING DYNAMICS DURING ERYTHROID DIFFERENTIATION AMPLIFY MIS-SPLICING IN SF3B1-MUTANT MDS-RS
Published in LEUKEMIA RESEARCH (01-05-2023)Get full text
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Cancer-associated mutations in the ribosomal protein L5 gene dysregulate the HDM2/p53-mediated ribosome biogenesis checkpoint
Published in Oncogene (23-04-2020)“…Perturbations in ribosome biogenesis have been associated with cancer. Such aberrations activate p53 through the RPL5/RPL11/5S rRNA complex-mediated inhibition…”
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Microsatelite GT polymorphism in the toll-like receptor 2 is associated with colorectal cancer
Published in Clinical genetics (01-08-2006)“…Factors underlying genetic predisposition for development of sporadic colorectal cancer are largely unknown. The fact that this cancer is more common in…”
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Spotlight on measles 2010: excretion of vaccine strain measles virus in urine and pharyngeal secretions of a child with vaccine associated febrile rash illness, Croatia, March 2010
Published in Euro surveillance : bulletin européen sur les maladies transmissibles (02-09-2010)“…We describe excretion of measles vaccine strain Schwarz in a child who developed a febrile rash illness eight days after primary immunisation against measles,…”
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A Rapid Fluorogenic Palmitoyl-Protein Thioesterase Assay: Pre- and Postnatal Diagnosis of INCL
Published in Molecular genetics and metabolism (01-04-1999)“…A deficiency of palmitoyl-protein thioesterase (PPT) was recently shown to be the primary defect in infantile neuronal ceroid lipofuscinosis (INCL). The…”
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Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits
Published in Human molecular genetics (01-02-1998)“…A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural…”
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Phenotype- genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
Published in Neurology (22-08-2000)“…The authors analyzed the clinical phenotype, including MRI, of eight patients with Finnish variant late infantile neuronal ceroid lipofuscinosis (vLINCLFin;…”
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Autopsy: Traditional Jewish Laws and Customs "Halacha"
Published in The American journal of forensic medicine and pathology (01-09-2011)“…Judaism has many traditions, customs, rules, and laws, which relate to the proper and ethical disposition of a decedent when a Medical Examiner/ Coroner is…”
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Observations in institutionalized neuronal ceroid‐lipofuscinosis patients with special reference to involuntary movements
Published in Journal of inherited metabolic disease (01-03-1993)Get full text
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12
Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation
Published in The Journal of neuroscience (12-08-2015)“…In adult mice, monocular enucleation (ME) results in an immediate deactivation of the contralateral medial monocular visual cortex. An early restricted…”
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Angiosarcoma presenting as diffuse alveolar hemorrhage
Published in Chest (01-07-1988)“…Angiosarcoma has been reported as occurring in both postirradiation and postradical mastectomy patients. Described is a patient, postmastectomy and…”
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Somatic antigens of Shigella: structure of the O-specific polysaccharide chain of the Shigella dysenteriae type 7 lipopolysaccharide
Published in Carbohydrate research (15-08-1988)“…4-(N-Acetylglycyl)amino-4,6-dideoxy-D-glucose has been identified as a component of the Shigella dysenteriae type 7 O-specific polysaccharide, in addition to…”
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Lumican inhibits angiogenesis by interfering with α2β1 receptor activity and downregulating MMP-14 expression
Published in Thrombosis research (08-11-2011)Get full text
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Ceroid lipofuscinosis
Published in Tijdschrift voor kindergeneeskunde (01-10-1989)“…Experiences with the care for the 37 patients with the juvenile type of neuronal (generalised) ceroid lipofuscinoses in a centre for multihandicapped people…”
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DNAzyme as an efficient tool to modulate invasiveness of human carcinoma cells
Published in Acta biochimica Polonica (01-01-2010)“…In this study we evaluated efficiency of DNAzymes to modulate motility of cancer cells, an important factor in the progression and metastasis of cancers. For…”
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Spotlight on measles 2010: Excretion of vaccine strain measles virus in urine and pharyngeal secretions of a child with vaccine-associated febrile rash illness, Croatia, March 2010: MEASLES Part II, July-December 2010
Published in Euro surveillance : bulletin européen sur les maladies transmissibles (2010)Get full text
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Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD)
Published in American journal of medical genetics (05-06-1995)“…The juvenile-onset subtype of the neuronal ceroid lipofuscinoses (JNCL) is well known [Hofman, ISBN90-71534-19-7 1990] and ultrastructurally characterized by…”
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Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts
Published in Cancer research (Chicago, Ill.) (16-01-2024)“…Myelodysplastic syndromes with ring sideroblasts (MDS-RS) commonly develop from hematopoietic stem cells (HSC) bearing mutations in the splicing factor SF3B1…”
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