Abstract
Two Japanese patients were newly diagnosed as having B subunit (XIIIB) deficiency of factor XIII (former type I deficiency). Both patients have a previously described one-base deletion at the boundary between intron A/exon II in the XIIIB gene, heterozygously or homozygously. A founder effect was proposed for this mutation because 3 unrelated patients with XIIIB deficiency also share 2 3'-polymorphisms. In one patient heterozygous for the above mutation, a novel mutation was also identified: a deletion of guanosine in exon IX (delG) of the XIIIB gene. To understand the molecular and cellular pathology of the delG mutation, expression studies were performed using a cultured mammalian cell line. Pulse-chase experiments showed that a resultant truncated XIIIB remained inside the cells and could not be secreted into the culture medium. Furthermore, immunocytochemical examinations by epifluorescence, confocal, and electron microscopes indicated impaired intracellular transportation of the truncated XIIIB from the endoplasmic reticulum to the Golgi apparatus. No mutations in the gene for the A subunit (XIIIA) were identified in this patient. Therefore, secretion of the truncated XIIIB must also be impaired in vivo, leading to a secon...Continue Reading
References
Jan 1, 1991·American Journal of Hematology·F RodeghieroG Castaman
Aug 24, 1990·Cell·R D Klausner, R Sitia
Mar 1, 1990·British Journal of Haematology·M SaitoT Matsuda
Aug 12, 1986·Biochemistry·A IchinoseE W Davie
Dec 8, 1972·Annals of the New York Academy of Sciences·F Duckert
May 1, 1980·Journal of Clinical Pathology·F Rodeghiero, T Barbui
Mar 1, 1995·The Journal of Clinical Investigation·T Hashiguchi, A Ichinose
May 1, 1996·Journal of Biochemistry·H KaetsuA Ichinose
Jan 1, 1996·Seminars in Thrombosis and Hemostasis·A IchinoseT Hashiguchi
Jun 3, 1998·British Journal of Haematology·A IchinoseH Umeyama
May 11, 2000·Seminars in Thrombosis and Hemostasis·A IchinoseN Takahashi
May 24, 2000·Proceedings of the National Academy of Sciences of the United States of America·R HalabanD N Hebert
Citations
Nov 8, 2003·International Journal of Hematology·Baohua DuanZhenyi Wang
Jan 29, 2008·International Journal of Hematology·Masayoshi SouriAkitada Ichinose
Apr 6, 2012·International Journal of Hematology·Akitada Ichinose
Feb 5, 2005·Pathophysiology of Haemostasis and Thrombosis·Zsuzsanna BereczkyLászló Muszbek
Feb 15, 2013·Thrombosis and Haemostasis·Hideho WadaAkitada Ichinose
Oct 29, 2008·Blood·Eva AjznerLászló Muszbek
Aug 13, 2013·PloS One·Sho MokudaKiyoshi Takasugi
Mar 5, 2011·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Minghua JiangChanggeng Ruan
Jun 7, 2011·Blood Reviews·Arijit BiswasJohannes Oldenburg
Sep 1, 2005·Haemophilia : the Official Journal of the World Federation of Hemophilia·W OnlandM Peters
Jan 15, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·L Hsieh, D Nugent
Mar 25, 2010·Haemophilia : the Official Journal of the World Federation of Hemophilia·V IvaskeviciusJ Oldenburg
Sep 3, 2013·Haemophilia : the Official Journal of the World Federation of Hemophilia·L A T Sharief, R A Kadir
Nov 30, 2013·Haemophilia : the Official Journal of the World Federation of Hemophilia·M SouriA Ichinose
Oct 22, 2014·Blood·Joanne L MitchellNicola J Mutch
May 22, 2016·Thrombosis Research·Joanne L Mitchell, Nicola J Mutch
Dec 14, 2011·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Peyman EshghiMehran Karimi
Jul 19, 2016·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Nacim LouhichiFaiza Fakhfakh
Apr 21, 2018·Journal of Thrombosis and Haemostasis : JTH·E L HethershawH Philippou
Jul 9, 2009·Physiological Reviews·Siiri E IismaaRobert M Graham
Aug 23, 2003·Blood·Shiori Koseki-KunoAkitada Ichinose
Mar 25, 2006·Blood·Amy E LovejoyDiane J Nugent
Mar 27, 2015·The Journal of Biological Chemistry·Masayoshi SouriAkitada Ichinose