Results 41 to 50 of about 29,955 (251)

Reconstructing enzyme evolution by protein engineering

FEBS Letters, EarlyView.
Natural enzyme evolution can be retraced by protein engineering methods such as directed evolution, rational design, and ancestral sequence reconstruction. These approaches reveal how enzymes emerged from ligand‐binding scaffolds, developed varying substrate preferences, formed oligomeric complexes, adapted to environmental changes, and evolved novel ...
Lukas Drexler, Markus R. Busch, Reinhard Sterner   +2 more
wiley   +1 more source

CLINICAL PROFILE OF PATIENTS WITH RARE INHERITED COAGULATION DISORDERS: A RETROSPECTIVE ANALYSIS OF 67 PATIENTS FROM NORTHERN INDIA

Mediterranean Journal of Hematology and Infectious Diseases, 2012
Introduction: Inherited bleeding disorders are characterized by the absence or reduced level of clotting factors, and the clinical manifestations vary according to the type and magnitude of the deficient factor. Aim: To study the clinical presentation of
Sanjeev Kumar Sharma, Suman Kumar, Tulika Seth, Pravas Mishra, Narendra Agrawal, Gurmeet Singh, Avinash Singh, Manoranjan Mahapatra, Seema Tyagi, Haraprasad Pati, Renu Saxena   +10 more
doaj   +3 more sources

Thrombosis in inherited factor VII deficiency

Journal of Thrombosis and Haemostasis, 2003
Thrombosis in congenital factor (F) VII deficiency was investigated through extensive phenotypic and molecular-genetic studies. Patients with a history of thrombosis among 514 entries in the FVII Deficiency Study Group database were evaluated. Thrombotic events were arterial in one case, disseminated intravascular coagulation in another and venous in ...
MARIANI G, HERRMANN FH, SCHULMAN S, BATOROVA A, WULFF K, ETRO, Daniela, DOLCE A, AUERSWALD G, ASTERMARK J, SCHVED JF, INGERSLEV J, BERNARDI, Francesco, INTERNATIONAL FACTOR VII DEFICIENCY STUDY GROUP   +12 more
openaire   +3 more sources

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

Fatal intracranial hemorrhage in a newborn with factor VII deficiency

The Turkish Journal of Pediatrics, 1996
Factor VII deficiency is a rare congenital coagulopathy. Prolonged prothrombin time with normal partial thromboplastin time indicates factor VII deficiency. For the definitive diagnosis, the specific factor VII level should be investigated.
R Uçsel, S Savaşan, A Coban, F Metin, G Can   +4 more
doaj  

EDNRB‐dependent endothelin signaling reduces proliferation and promotes proneural‐to‐mesenchymal transition in gliomas

Molecular Oncology, EarlyView.
Glioma cells mainly express the endothelin receptor EDNRB, while EDNRA is restricted to a perivascular tumor subpopulation. Endothelin signaling reduces glioma cell proliferation while promoting migration and a proneural‐to‐mesenchymal transition associated with poor prognosis. This pathway activates Ca2+, K+, ERK, and STAT3 signalings and is regulated
Donovan Pineau, Leonor Garcia, Hugo Arnold, Antonija Hanžek, Maialen Arrieta, Laurent R Gauthier, Christine Granotier‐Beckers, François D Boussin, Amaury Herbet, Marie Hautière, Valentin Asei‐Ceschino, Clémentin Jacques, Laura Brard, Thomas Harnois, Valérie Coronas, Bruno Constantin, Aurélien Chatelier, Jean Chemin, Serge Urbach, Martial Seveno, Szimonetta Hideg, Chantal Ripoll, Kasandra Aguilar‐Cázarez, Min Zheng, Guo‐Hao Huang, Sheng‐Qing Lv, Lei Zhang, Philippe Rondard, Laurent Prezeau, Jean‐Philippe Pin, Hugues Duffau, Luc Bauchet, Valérie Rigau, Franck Denat, Charles Truillet, Didier Boquet, Jean‐Philippe Hugnot   +36 more
wiley   +1 more source

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Combined Factor VII and X Deficiency

Online Journal of Health & Allied Sciences, 2011
Factor VII deficiency and factor X deficiency and very rare disorders individually. Combined Factor VII and X is a rare congenital blood disorder with very few cases reported in the literature.
Gursharan Singh Narang,, Sunita Arora,, Jivtesh Singh Pahwa,   +2 more
doaj  

Constrictive pericarditis in a patient with inherited factor VII deficiency

Терапевтический архив, 2018
Constrictive pericarditis (CP) is the final stage of a chronic inflammatory process characterized by fibrous thickening and calcification of the pericardium that impairs diastolic filling, reduces cardiac output, and ultimately leads to heart failure. We
R V PONOMAREV, S V MODEL, N I ZOZULYA, V A IVANOV, D A PODCHASOV, E A MERSHINA, V E SINITSYN, E A LUKINA   +7 more
doaj   +1 more source

Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

Haematologica, 2020
Despite the exhaustive screening of F7 gene exons and exon-intron boundaries and promoter region, a significant proportion of mutated alleles remains unidentified in patients with coagulation factor VII deficiency.
Paolo Ferraresi, Dario Balestra, Caroline Guittard, Delphine Buthiau, Brigitte Pan-Petesh, Iva Maestri, Roula Farah, Mirko Pinotti, Muriel Giansily-Blaizot   +8 more
doaj   +1 more source