Two novel mutations in the fibrinogen .gamma. nodule

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61389013%3A_____%2F14%3A00431675" target="_blank" >RIV/61389013:_____/14:00431675 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00023736:_____/14:00011071

Výsledek na webu

<a href="http://dx.doi.org/10.1016/j.thromres.2014.07.021" target="_blank" >http://dx.doi.org/10.1016/j.thromres.2014.07.021</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.thromres.2014.07.021" target="_blank" >10.1016/j.thromres.2014.07.021</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Two novel mutations in the fibrinogen .gamma. nodule

Popis výsledku v původním jazyce

Congenital dysfibrinogenemia and hypofibrinogenemia are rare diseases characterized by inherited abnormality in the fibrinogen molecule, resulting in functional defects (dysfibrinogenemia) or low fibrinogen plasma levels (hypofibrinogenemia). We have described two abnormal fibrinogens ? fibrinogen Hranice (? Phe204Val) and Praha IV (? Ser313Gly). The carrier of the Hranice mutation was a 40-year-old female with low fibrinogen levels. The carrier of the Praha IV mutation was a 42-year-old man with a history of idiopathic thrombosis, low functional fibrinogen levels, and a prolonged thrombin time. Fibrin polymerization kinetics measurement was normal in both cases (after the addition of either thrombin or reptilase), as well as was fibrinolysis. Scanningelectron microscopy and confocal microscopy revealed significantly wider fibers in both cases, when compared with fibers prepared from healthy control samples. Although both cases are situated in the ?-nodule, they manifested differently

Název v anglickém jazyce

Two novel mutations in the fibrinogen .gamma. nodule

Popis výsledku anglicky

Congenital dysfibrinogenemia and hypofibrinogenemia are rare diseases characterized by inherited abnormality in the fibrinogen molecule, resulting in functional defects (dysfibrinogenemia) or low fibrinogen plasma levels (hypofibrinogenemia). We have described two abnormal fibrinogens ? fibrinogen Hranice (? Phe204Val) and Praha IV (? Ser313Gly). The carrier of the Hranice mutation was a 40-year-old female with low fibrinogen levels. The carrier of the Praha IV mutation was a 42-year-old man with a history of idiopathic thrombosis, low functional fibrinogen levels, and a prolonged thrombin time. Fibrin polymerization kinetics measurement was normal in both cases (after the addition of either thrombin or reptilase), as well as was fibrinolysis. Scanningelectron microscopy and confocal microscopy revealed significantly wider fibers in both cases, when compared with fibers prepared from healthy control samples. Although both cases are situated in the ?-nodule, they manifested differently

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

BO - Biofyzika

OECD FORD obor

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Projekt

<a href="/cs/project/GBP205%2F12%2FG118" target="_blank" >GBP205/12/G118: Nanobiofotonika pro medicínu budoucnosti</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Thrombosis Research

ISSN

0049-3848

e-ISSN

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Svazek periodika

134

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

8

Strana od-do

901-908

Kód UT WoS článku

000342360900023

EID výsledku v databázi Scopus

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