Results 51 to 60 of about 1,912 (211)

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia [PDF]

, 2017
Congenital afibrinogenemia is a rare bleeding disorder characterized by the absence in circulation of fibrinogen, a hexamer composed of two sets of three polypeptides (Aα, Bβ and γ).
Caille, Dorothée, de Moerloose, Philippe, Di Sanza, Corinne, Meda, Paolo, Neerman-Arbez, Marguerite, Scheib, Holger, Vu, Dung   +6 more
core  

Spectrum of afibrinogenemia: Bleeding to thrombosis- retrospective analysis of five patients

Pediatric Hematology Oncology Journal
Background: Afibrinogenemia is a rare disorder, with autosomal recessive inheritance, most often associated with consanguinity. To date, very few cases have been reported from India.
Sneha Waghela, Sujata Sharma, Nikita Shah, Harshada Uchil, Radha Ghildiyal   +4 more
doaj   +1 more source

CONGENITAL AFIBRINOGENEMIA (CASE REPORT)

Eurasian Journal of Medicine, 2019
We report a 42 year –old man with congenital afibrinogenemia presenting with ecchymoses and hemoptysis. Moreover we describe the diagnostic importance of congenital afibrinogenemia.
Fuat Erdem, Abdullah Uyanık, Mehmet Gündoğdu   +2 more
doaj  

Inflammation-induced effector CD4+ T cell interstitial migration is alpha-v integrin dependent [PDF]

, 2014
Leukocytes must traverse inflamed tissues to effectively control local infection. Although motility in dense tissues appears to be integrin-independent actin-myosin based, during inflammation changes to the extracellular matrix (ECM) may necessitate ...
Acharya, Mridu, Angermann, Bastian, Billroth-Maclurg, Alison C., Fowell, Deborah J., Gaylo, Alison, Hughson, Angela, Hyun, Young-min, Kim, Minsoo, Lacy-Hulbert, Adam, Lambert, Kris, Meier-Schellersheim, Martin, Overstreet, Michael G., Rosenberg, Alexander F., Topham, David J., Yagita, Hideo   +14 more
core   +1 more source

siRNA down-regulation of FGA mRNA in HepG2 cells demonstrated that heterozygous abnormality of the A alpha-chain gene does not affect the plasma fibrinogen level [PDF]

, 2013
Introduction: We encountered two afibrinogenemia patients with homozygous and compound heterozygous FGA mutation. Of interest, the patients' parents, who are heterozygous, had normal levels of plasma fibrinogen; thus, we hypothesized that liver FGA mRNA ...
Honda, Takayuki, Matsuda, Kazuyuki, Okumura, Nobuo, Sugano, Mitsutoshi, Takezawa, Yuka, Terasawa, Fumiko   +5 more
core   +4 more sources

Afibrinogenemia en el embarazo

Revista Colombiana de Obstetricia y Ginecología, 1955
La literatura médica reciente nos trae un sin número de estudios sobre la diátesis hemorrágica que en algunos casos de embarazo se presenta, producida por el síndrome de "Afibrinogenemia adquirida" y que se asocia principalmente a tres entidades ...
Rafael Quiñones Daza
doaj   +1 more source

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I

Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.
This study describes a rare autosomal recessive disorder with paternal uniparental disomy of chromosome 4 leading to the homozygosity of the α‐L‐iduronidase (IDUA) splicing variant in patients with mucopolysaccharidosis type I for the first time.
Lulu Yan, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Haibo Li   +5 more
wiley   +1 more source

New insights into the expression and role of platelet FXIII-A [PDF]

, 2009
25 p.-6 fig.Background: The A subunit of factor XIII (FXIII-A) functions as an intracellular transglutaminase (TG) in the megakaryocyte/platelet lineage, where it probably participates in the cytoskeletal remodeling associated with cell activation ...
Conde, Isabel, González-Manchón, Consuelo, Jayo, Asier, Jiménez-Yuste, Victor, Lastres, Pedro   +4 more
core   +2 more sources

Severe haemorrhages leading to a diagnosis of rare bleeding disorder occur at a very young age: A study from the FranceCoag network

Haemophilia, Volume 30, Issue 4, Page 981-987, July 2024.
Abstract Introduction In the context of severe unexplained haemorrhage (SH), it is usual to seek haematological evaluation and investigate for an inherited rare bleeding disorder (IRBD). In such circumstances, appropriate screen can discriminate between IRBD and suspected child abuse.
Sandrine Meunier, Annie Harroche, Antoine Rauch, Cécile Bally, Yoann Huguenin, Romain Voltzenlogel, Clémence Tabélé, Hervé Chambost, Martine Balençon, FranceCoag   +9 more
wiley   +1 more source

Congenital fibrinogen deficiency in Hemophilia Center Medical City/Baghdad

Iraqi Journal of Hematology, 2021
CONTEXT: Congenital fibrinogen deficiency is a rare inherited coagulation disorder with an estimated prevalence of 1:1,000,000 which is characterized by bleeding that varies from mild to severe and by an extremely low level or complete absence of plasma ...
Afrah A Salih, Murtadha H Ali, Mohammed J Alwan   +2 more
doaj   +1 more source