133 results found
Pavlu J, Andreasson C, Chuah C, et al., 2007, Dual inhibition of ras and bcr-abl signalling pathways in chronic myeloid leukaemia: a phase I/II study in patients in complete haematological remission, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 137, Pages: 423-428, ISSN: 0007-1048
Pavlu J, Babb A, 2007, Pneumococcal septicaemia, LANCET INFECTIOUS DISEASES, Vol: 7, Pages: 234-234, ISSN: 1473-3099
Pavlu J, Jackson M, Panoskaltsis N, 2006, GM1-gangliosidosis type I., Br J Haematol, Vol: 135, ISSN: 0007-1048
Pavlu J, Carey MP, Winer JB, 2006, Hypothyroidism and nemaline myopathy in an adult, JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, Vol: 77, Pages: 708-709, ISSN: 0022-3050
Pavlu J, Jan-Mohamed R, Kaczmarski R, 2006, Pathological odontoid fracture., Lancet Oncol, Vol: 7, ISSN: 1470-2045
, 2005, Dysplastic polychromatic "snowblast"., Blood, Vol: 106, ISSN: 0006-4971
Varga Z, Pavlu J, 2005, Roth's spots, NEW ENGLAND JOURNAL OF MEDICINE, Vol: 353, Pages: 1041-1041, ISSN: 0028-4793
Pavlu J, Czepulkowski B, Kaczmarski R, et al., 2005, Early blastic transformation with CNS infiltration in a patient with chronic myeloid leukaemia treated with imatinib, LANCET ONCOLOGY, Vol: 6, Pages: 128-128, ISSN: 1470-2045
Pavlů J, Necas E, 1998, [Paroxysmal nocturnal hemoglobinuria and its association with aplastic anemia]., Cas Lek Cesk, Vol: 137, Pages: 419-423, ISSN: 0008-7335
Paroxysmal nocturnal haemoglobinuria (PNH) is an acquired clonal disorder of haematopoiesis. Clinically it is characterized by intravascular haemolysis, venous thrombosis and often by bone marrow hypoplasia. Haemolysis and thrombosis develop as a consequence of deficiency of several proteins on the cell membrane of the affected clone of blood elements. This is caused by somatic mutations in the PIG-A gene, which encodes an enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor. Spectrum of mutations in the PIG-A gene is different to that observed in other genes. The mutations are mainly small deletions and insertions causing frameshift; large deletions are rare. Recently, however, a 88 base pairs direct tandem repeat insertion has been reported in a patient with PNH developed on the background of aplastic anaemia (AA). The peculiar pattern of the PIG-A gene mutations and the finding that more than one mutated clone is commonly present in patients with PNH might suggest that some form of hypermutability, caused by decreased DNA stability, deficient repair or increased generation of mutagens, might underline PNH. As most mutations cause cell death, it would explain the hypoplastic nature of the disorder and its association with AA. Other models of pathogenesis of PNH are also discussed.
Mortazavi Y, Pavlu J, Harsh JCW, et al., 1998, Distinctive and multiple mutations of the PIG-A gene in aplastic anaemia paroxysmal nocturnal haemoglobinuria, Publisher: BLACKWELL SCIENCE LTD, Pages: 11-11, ISSN: 0007-1048
Pavlu J, Mortazavi Y, Tooze J, et al., 1997, Paroxysmal nocturnal haemoglobinuria due to an 88 bp direct tandem repeat insertion in the PIG-A gene, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 98, Pages: 289-291, ISSN: 0007-1048
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