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001-es BibID:BIBFORM058218
Első szerző:Losonczy Gergely (szemész)
Cím:A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa / Gergely Losonczy, Nurit Rosenberg, Csongor Kiss, János Kappelmayer, György Vereb, Adrienne Kerényi, István Balogh, László Muszbek
Dátum:2005
ISSN:0340-6245
Megjegyzések:The absence of agonist-induced platelet aggregation and the lack of fibrinogen receptor (GPIIb/IIIa) on the platelet surface demonstrated that the severe hemorrhagic complications of a child of Romany descent were caused by Glanzmann thrombasthenia. DNA sequencing revealed a novel homozygous deletion of a cytosine (1619delC) in the GPIIb gene causing a frameshift and predicting a novel stop codon at position 533 following 24 altered amino acids. Both parents possessed the same deletion in heterozygous form. The amount of GPIIb mRNA in the patient's platelets was 0.06% of the amount measured in control platelets. Neither GPIIb nor its truncated form could be detected in the platelets of the patient by Western blotting, while a small amount of GPIIIa was demonstrated. Quantitative flowcytometric analysis showed an elevated number of vitronectin receptors, a component of which is GPIIIa, on the patient's platelets. The surface expression of vitronectin receptor on thrombasthenic, but not on normal platelets was further increased by activation with thrombin receptor agonist peptide. BHK cells transfected with wild type GPIIIa andmutated GPIIb failed to express any mature GPIIb or pro-GPIIb. Immunoprecipitation with a polyclonal antibody recognizing both GPIIb and GPIIIa recovered a 60 kDa truncated form of GPIIb. This band was absent when immunoprecipitation was carried out with an antibody recognizing GPIIIa, suggesting that the truncated protein, lacking calf-1, calf-2 domains and major part of the thigh domain, is unable to form complex with GPIIIa.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Amino Acids
analysis
Animals
Antibodies
biosynthesis
Blood Platelets
Blotting, Western
Case Report
Cell Line
Cells
chemistry
Child
Cricetinae
Cytosine
Dna
Electrophoresis, Polyacrylamide Gel
Exons
Family Health
Female
Flow Cytometry
Gene Deletion
genetics
Homozygote
Humans
Hungary
Immunoprecipitation
Integrin alphaVbeta3
Integrin beta3
Male
metabolism
Mutagenesis, Site-Directed
Mutation
Platelet Aggregation
Platelet Glycoprotein GPIIb-IIIa Complex
Platelet Membrane Glycoprotein IIb
Polymerase Chain Reaction
Protein Binding
Protein Structure, Tertiary
Research
RNA, Messenger
Sequence Analysis, DNA
Support
Thrombasthenia
Thrombin
Transfection
Megjelenés:Thrombosis and Haemostasis. - 93 : 5 (2005), p. 904-909. -
További szerzők:Rosenberg, Nurit Kiss Csongor (1956-) (hematológus, onkológus) Kappelmayer János (1960-) (laboratóriumi szakorvos) Vereb György (1965-) (biofizikus, orvos) Kerényi Adrienne (1970-) (laboratóriumi szakorvos) Balogh István (1972-) (molekuláris biológus, genetikus) Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:Szerző által megadott URL
DOI
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2.

001-es BibID:BIBFORM001206
Első szerző:Losonczy Gergely (szemész)
Cím:Three novel mutations in the glycoprotein IIb gene in a patient with type II Glanzmann thrombasthenia / Losonczy G., Rosenberg N., Boda Z., Vereb G., Kappelmayer J., Hauschner H., Bereczky Z., Muszbek L.
Dátum:2007
Megjegyzések:In the platelets of a type II Glanzmann thrombasthenia patient, the amount of glycoprotein (GP) IIb and IIIa was significantly reduced. Three novel mutations were identified in the GPIIb gene (c.440C->G/p.Leu116Val, c.1772_1773insG/p.Asp560 GlyfsX16 and c.2438C->A/p.His782Asn). p.Leu116Val did not represent a causative mutation. The c.1772_1773insG mutation resulted in an early stop codon and nonsense mediated decay of mRNA. When expressed in transfected BHK cells, the truncated protein was unable to form complex with GPIIIa. The p.His782Asn mutation compromised transport of the pro-GPIIb/IIIa complex from the endoplasmic reticulum to the Golgi, hindering its maturation and surface expression.
Tárgyszavak:Orvostudományok Klinikai orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
fibrinogen receptor
Glanzmann thrombasthenia
glycoprotein IIb mutations
Megjelenés:Haematologica. - 92 : 5 (2007), p. 698-701. -
További szerzők:Rosenberg, Nurit Boda Zoltán (1947-) (belgyógyász, haematologus, klinikai onkológus) Vereb György (1965-) (biofizikus, orvos) Kappelmayer János (1960-) (laboratóriumi szakorvos) Hauschner, Hagit Bereczky Zsuzsanna (1974-) (orvosi laboratóriumi diagnosztika szakorvos) Muszbek László (1942-) (haematológus, kutató orvos)
Internet cím:elektronikus változat
DOI
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