Results 61 to 70 of about 436,315 (283)

Severe congenital factor X deficiency with intracranial bleeding in two siblings

, 2004
Congenital factor X deficiency is a rare autosomal recessive disorder that usually presents with variable bleeding tendency, prolonged prothrombin time and partial thromboplastin time.
R Ors, F Orhan, A Tastekin, Ermiş, Bahri   +3 more
core   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Factor X deficiency presenting as an intracranial bleed in a young infant

Pediatric Hematology Oncology Journal
Inherited Factor X deficiency is a rare bleeding disorder. It is inherited in autosomal recessive manner. The genotype and the phenotype are variable. The management is tailored as per individual patient.
Sanyukta Sandeep Ghodke, Rishab Bhurat, Dhaarani Jayaraman, Sri Gayathri Shanmugam, Febe Renjitha Suman, Ramya Uppuluri, Rajakumar Padur Sivaraman, Julius Xavier Scott   +7 more
doaj   +1 more source

Partial gene deletion in a family with factor X deficiency

, 1989
The presence of gene lesions in coagulation factor X (FX, Stuart factor) was investigated in patients with FX deficiency or an FX abnormality (FX Friuli).
BERNARDI, Francesco, MARCHETTI, Giovanna, Patracchini P, VOLINIA, Stefano, Simoni P, Girolami A., GEMMATI, Donato   +6 more
core   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

DUA KASUS ACQUIRED PROTHROMBIN COMPLEX DEFICIENCY DENGAN PERDARAHAN INTRAKRANIAL : LAPORAN KASUS

JKS (Jurnal Kedokteran Syiah Kuala), 2017
Abstrak. Acquired Prothrombin Complex Deficiency (APCD) merupakan perdarahan spontan yang disebabkan oleh penurunan aktivitas faktor koagulasi yang tergantung vitamin K (faktor II, VII, IX dan X), sedangkan aktivitas faktor koagulasi lain, kadar ...
Jufitriani Ismy
doaj   +1 more source

Fatal acquired coagulation factor V deficiency after hepatectomy for advanced hepatocellular carcinoma as a possible immune checkpoint inhibitor-related adverse event: a case report

Surgical Case Reports, 2023
Background Atezolizumab plus bevacizumab therapy was recently introduced as the first line for unresectable advanced hepatocellular carcinoma (HCC), but immune-related adverse events (IrAEs) due to atezolizumab are a great concern.
Shintaro Arakaki, Shinichiro Ono, Futoshi Kawamata, Shinichiro Ishino, Yasunori Uesato, Tomo Nakajima, Yukiko Nishi, Satoko Morishima, Shingo Arakaki, Tatsuji Maeshiro, Masayoshi Souri, Akitada Ichinose, Hiroaki Masuzaki, Mitsuhisa Takatsuki   +13 more
doaj   +1 more source

Residual tail twisting in ascidian larvae is stabilized by asymmetric myofibrils that resist bilateral symmetry restoration

FEBS Letters, EarlyView.
Ascidian Ciona larvae initially show strong clockwise tail twisting, which is largely corrected during development. However, a small residual twist remains. This study shows that organized helical myofibrils in tail muscles mechanically stabilize this residual asymmetry, preventing complete restoration of bilateral symmetry and revealing how embryos ...
Yuki S. Kogure, Misaki K. Nishio, Satoru Okuda, Kohji Hotta   +3 more
wiley   +1 more source

Review Dental Treatment of Patients with Congenital Bleeding Disorders

Česká Stomatologie a Praktické Zubní Lékařství, 2014
Objectives: The commonest congenital bleeding disorders in childhood are hemophilia, von Willebrand disease and deficiency of factor XI. Disease is characterized by a deficient of coagulability. It is a gonosomal recessive condition.
J. Papež, K. Chleborád, T. Dostálová
doaj   +1 more source