Results 211 to 220 of about 33,034 (254)

Red blood cell PK deficiency: An update of PK-LR gene mutation database

Blood Cells, Molecules, and Diseases, 2016
Pyruvate kinase (PK) deficiency is known as being the most common cause of chronic nonspherocytic hemolytic anemia (CNSHA). Clinical PK deficiency is transmitted as an autosomal recessive trait, that can segregate neither in homozygous or in a compound heterozygous modality, respectively.
Canu G, De Bonis M, Minucci A, Capoluongo E   +3 more
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Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis

The Journal of Pediatrics, 2007
Pyruvate kinase (PK) deficiency is asymptomatic in heterozygotes, but it can lead in homozygous neonates to a severe neonatal hemolysis, sometimes life-threatening. We report five cases, with a 1- to 17-month delayed diagnosis, highlighting the need to measure PK activity in neonates and parents in case of an hemolysis at birth.
Serge, Pissard, Mariane, de Montalembert, Dora, Bachir, Isabelle, Max-Audit, Michel, Goossens, Henri, Wajcman, Brigitte, Bader-Meunier   +6 more
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Immunological Studies of PK and PFK Deficiencies Induced by Chemotherapy

Scandinavian Journal of Haematology, 1983
Pyruvate kinase (PK) and phosphofructokinase (PFK) erythrocyte deficiencies induced by chemotherapy were studied in 6 patients. From immunological tests it may be assumed that the PK and PFK deficiencies were due to different direct mechanisms: a disturbance of the synthesis of one of the PFK subunit; mutation(s) in the structural gene of PK which ...
J, Etiemble, C, Picat, P, Boivin
openaire   +2 more sources

Erythrocyte pyruvate kinase deficiency: Characterization of a new variant (PK ?Aarau?)

Blut, 1984
A new PK variant with moderate hemolytic anemia is described. The enzymes of the nonanemic parents show sigmoidal reaction kinetics, with normal kinetic parameters, but differ with respect to nucleotide specificity, thermostability, and the concentrations of the glycolytic intermediates in the erythrocytes.
Lakomek, M., Winkler, A., Scharnetzky, M., Tillmann, W., Laier, G., Marti, H., Schröter, W.   +6 more
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Membrane alterations in G6PD- and PK-deficient erythrocytes exposed to oxidizing agents

Biochemical Medicine and Metabolic Biology, 1991
After in vitro treatment of normal, glucose-6-phosphate dehydrogenase-deficient or pyruvate kinase-deficient human erythrocytes with three different oxidizing agents, the extent of lipid peroxidative degradation and the alterations of membrane proteins were evaluated.
P, Caprari, A, Bozzi, L, Ferroni, A, Giuliani, B F, La Chiusa, R, Strom, A M, Salvati   +6 more
openaire   +2 more sources

Transcription by RNA polymerase II in DNA-PK deficient scid mouse cells

Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 2000
DNA-dependent protein kinase (DNA-PK) is involved in DNA repair but there is some evidence to suggest that it is also involved in regulating transcription. We used a pair of cell lines, SCVA2 and SC(8)-10, which are DNA-PK negative and positive respectively, in order to examine the effect of DNA-PK upon transcription. Initial experiments were performed
H M, Sheppard, X, Liu
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Nucleoside transport-deficient mutants of PK-15 pig kidney cell line

Biochimica et Biophysica Acta (BBA) - Biomembranes, 1992
Previous studies indicated that PK-15 pig kidney cells express solely a nitrobenzylthioinosine-sensitive, equilibrative nucleoside transporter. In the present study, PK-15 cells were mutagenized by treatment with ICR-170 and nucleoside transport-deficient mutants selected in a single step in growth medium containing tubercidin and cytosine arabinoside ...
J M, Aran, P G, Plagemann
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Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

British Journal of Haematology, 2001
We studied the PK‐LR gene in 16 unrelated patients with congenital haemolytic anaemia associated with erythrocyte pyruvate kinase deficiency. Fifteen different mutations were detected among the 28 mutated alleles identified: two deletions (del 1010G, del 1042–1044); one four nucleotide duplication (nt 1515–1518, GGTC); one splice site [IVS6(−2)t]; nine
Zanella, Alberto, Bianchi, Paola, Fermo, Elisa, Iurlo, Alessandra, Zappa, Manuela, Vercellati, Cristina, Boschetti, Carla, Baronciani, Luciana, Cotton, Frédéric   +8 more
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Red cell pyruvate kinase deficiency: 17 new mutations of the PK‐LR gene

British Journal of Haematology, 2005
SummaryThe PK‐LR gene was studied in 23 patients with congenital haemolytic anaemia associated with erythrocyte pyruvate kinase (PK) deficiency. Twenty‐seven different mutations were detected among the 42 mutated alleles identified: 19 missense mutations, four splice site mutations and one nonsense, one single base deletion and two large deletions ...
FERMO E, BIANCHI P, COTTON F, VERCELLATI C, WRITZL K, BAKER K, HANN I, RODWELL R, ZANELLA A., CHIARELLI, LAURENT, VALENTINI, GIOVANNA   +10 more
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Pharmacokinetic (PK) Comparison of Two Fibrinogen Concentrates for the Treatment of Congenital Fibrinogen Deficiency

Blood, 2014
Patients with congenital afibrinogenaemia and hypofibrinogenaemia, experience frequent severe bleeding episodes starting at birth or early childhood. Bleeding may occur after a minor trauma or a small surgical intervention, into the skin, mucosa, muscles, gastrointestinal tract, or the brain.
Bruce A. Schwartz, Savita Rangarajan, Flora Peyvandi, Mehran Karimi, Sigurd Knaub   +4 more
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