Results 41 to 50 of about 436,501 (200)

Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency

Haematologica, 2008
Factor X deficiency is a severe rare hemorrhagic condition inherited as an autosomal recessive trait. It is one of the most severe recessive inherited coagulation disorders. We analyzed the clinical manifestations, laboratory phenotype and genotype in 10
Mehran Karimi, Marzia Menegatti, Abdolreza Afrasiabi, Sanaz Sarikhani, Flora Peyvandi   +4 more
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Calpain small subunit homodimerization is robust and calcium‐independent

FEBS Letters, EarlyView.
Calpains dimerize via penta‐EF‐hand (PEF) domains. Using single‐molecule force spectroscopy, we measured the strength and kinetics of PEF–PEF homodimer binding. The interaction is robust, shows a transient conformational step before dissociation, and remains largely insensitive to Ca2+.
Nesha May O. Andoy, Trina Dykstra‐MacPherson, Mathias A. Bell, Peter L. Davies, Ruby May A. Sullan   +4 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

Structural insights into an engineered feruloyl esterase with improved MHET degrading properties

FEBS Letters, EarlyView.
A feruloyl esterase was engineered to mimic key features of MHETase, enhancing the degradation of PET oligomers. Structural and computational analysis reveal how a point mutation stabilizes the active site and reshapes the binding cleft, expading substrate scope.
Panagiota Karampa, Konstantinos Makryniotis, Theofani‐Iosifina Sousani, Evangelos Topakas, Vangelis Daskalakis, Maria Dimarogona   +5 more
wiley   +1 more source

Factor X Concentrate Treatment Schedule and Dosing in Acquired FX Deficiency

Hematology Reports
Background: Acquired factor X (FX) deficiency is a rare condition that can cause life threatening bleeding. Here we outline a successful management strategy for gastrointestinal bleeding (GI) using human FX concentrate.
Andrew Ross, Rebecca J. Shaw, Louise Garth, Cathy Farrelly   +3 more
doaj   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +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

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

Circulating Inhibitor against Factor X: A Rare Cause of Hemorrhagic Diathesis

Case Reports in Hematology, 2023
Acquired coagulopathies resulting from factor X deficiency are rare and typically associated with amyloidosis or plasma cell dyscrasia. Factor X plays a pivotal role in the coagulation cascade, converting prothrombin into thrombin and facilitating the ...
P. Rossignon, F. Grandjean, A. Claessens, N. Weynants   +3 more
doaj   +1 more source