Results 131 to 140 of about 77,059 (283)

Detection of protein symmetry and structural rearrangements using secondary structure elements

Protein Science, Volume 35, Issue 6, June 2026.
Abstract Many proteins exhibit a degree of internal symmetry in their tertiary structure, including circular permutations. These characteristics play an important role in terms of the functional robustness of proteins against mutations, and are pivotal for the study of protein function and evolution.
Runfeng Lin, Sebastian E. Ahnert
wiley   +1 more source

Catheter-associated recurrent intracardiac thrombosis and factor V Leiden mutation in a child with non-Hodgkin's lymphoma

The Turkish Journal of Pediatrics, 2005
Patients with cancer have an increased risk for thromboembolism, which might be related to several factors including central venous catheters and chemotherapeutics.
Funda Corapçioğlu, Kamer Mutafoğlu Uysal, Erdem Silistreli, Nurettin Unal, Hale Oren, Unal Açikel   +5 more
doaj  

Homozygous factor V leiden mutation: Rare etiology of pulmonary embolism. [PDF]

Ann Med Surg (Lond), 2022
El Marraki Z, Bouzhir A, Eddhima Z, El Bouanani AE, Mouine N, Benyass A.   +5 more
europepmc   +1 more source

Dissociating role of Bassoon in glutamatergic and dopaminergic neurons in alcohol‐related behaviour and affective state in mice

British Journal of Pharmacology, Volume 183, Issue 11, Page 3111-3128, June 2026.
Abstract Background and Purpose Alcohol abuse and affective disorders are severe comorbid psychiatric diseases characterized by impaired brain synaptic transmission. The role of presynaptic scaffolding proteins coordinating presynaptic plasticity and neurotransmitter release, such as Bassoon (Bsn), in the pathogenesis of these disorders remains elusive.
Liubov S. Kalinichenko, Mona Krenbauer, Janosh Isert, Marlon Kamlah, Thorben Tanzer, Hannes Rödel, Tobias Müller, Anil Annamneedi, Enes Yağız Akdaş, Volker Eulenburg, Bernd Lenz, Eckart D. Gundelfinger, Johannes Kornhuber, Anna Fejtova, Christian P. Müller   +14 more
wiley   +1 more source

The prevalence of factor V Leiden (1691 G-->A) mutation in Turkey

The Turkish Journal of Pediatrics, 1997
Resistance to activated protein C (APC), which is caused by a single point mutation in the gene for factor V, is a common risk factor for thrombosis. In this study, we screened factor V (FV) Leiden mutation in 81 subjects.
A Gürgey, L Mesci
doaj  

Case report: Umbilical vessel aneurysm thrombosis and factor V Leiden mutation leading to fetal demise. [PDF]

Front Med (Lausanne), 2022
Oualiken C, Martz O, Idrissi N, Harizay FT, Martin L, De Maistre E, Ricaud L, Tarris G.   +7 more
europepmc   +1 more source

Single Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment‐Resistant Subclones at the Time of Diagnosis

American Journal of Hematology, Volume 101, Issue 5, Page 1025-1035, May 2026.
ABSTRACT Mantle cell lymphoma (MCL) is a B‐cell malignancy with a chronically relapsing clinical course and pronounced genetic heterogeneity. To investigate the clonal dynamics underlying early disease relapse, we performed single‐cell RNA sequencing of paired tumor samples collected at diagnosis and at first relapse. Inference of copy number variants (
Dmitry Manakov, Magdalena Klanova, Michal Kolar, Robert Ivanek, Florian Geier, Julien Roux, Tomas Zikmund, Lucie Winkowska, Eva Kriegova, Jirina Manakova, Liliana Tuskova, Silvia Spanikova, Alexandra Scasna, Marek Trneny, Pavel Klener   +14 more
wiley   +1 more source

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer. [PDF]

, 2019
Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk.
Aalfs, Cora M, ABCTB Investigators, Adank, Muriel A, Adlard, Julian, Agata, Simona, Agnarsson, Bjarni A, Ahearn, Thomas, Aittomäki, Kristiina, Ambrosone, Christine B, Andrews, Lesley, Anton-Culver, Hoda, Antonenkova, Natalia N, Arndt, Volker, Arnold, Norbert, Aronson, Kristan J, Arun, Banu K, Asseryanis, Ella, Auber, Bernd, Auvinen, Päivi, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barnes, Daniel R, Barrowdale, Daniel, Barwell, Julian, Beane Freeman, Laura E, Beauparlant, Charles Joly, Beckmann, Matthias W, Behrens, Sabine, Benitez, Javier, Berger, Raanan, Bermisheva, Marina, Blanco, Amie M, Blomqvist, Carl, Bogdanova, Natalia V, Bogliolo, Massimo, Bojesen, Anders, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Borg, Ake, Brady, Angela F, Brauch, Hiltrud, Brenner, Hermann, Brüning, Thomas, Burwinkel, Barbara, Buys, Saundra S, Cadoo, Karen, Caldés, Trinidad, Caleca, Laura, Caliebe, Almuth, Caligo, Maria A, Campa, Daniele, Campbell, Ian G, Canzian, Federico, Castelao, Jose E, Catucci, Irene, Chang-Claude, Jenny, Chanock, Stephen J, Claes, Kathleen BM, Clarke, Christine L, Collavoli, Anita, Conner, Thomas A, Cox, David G, Cybulski, Cezary, Czene, Kamila, Daly, Mary B, de la Hoya, Miguel, Dennis, Joe, Devilee, Peter, Diez, Orland, Ding, Yuan Chun, Dite, Gillian S, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Dos-Santos-Silva, Isabel, Durda, Katarzyna, Dwek, Miriam, Eccles, Diana M, Ekici, Arif B, Eliassen, A Heather, Ellberg, Carolina, Eriksson, Mikael, Evans, D Gareth, Fasching, Peter A, Figlioli, Gisella, Figueroa, Jonine, Flyger, Henrik, Foulkes, William D, Friebel, Tara M, Friedman, Eitan, Gabrielson, Marike, Gaddam, Pragna, Kiiski, Johanna I, Lasheras, Sandra Viz, Leslie, Goska, Michailidou, Kyriaki, Muranen, Taru A, Pujol, Roser   +99 more
core  

Factor V Leiden mutation increases the risk for venous thromboembolism in cancer patients – results from the Vienna Cancer And Thrombosis Study (CATS)

Journal of Thrombosis and Haemostasis, 2015
Ingrid Pabinger, Cihan Ay, Daniela Dunkler, J. Thaler, Eva-Maria Reitter, Christine Marosi, Christoph C. Zielinski, C. Mannhalter   +7 more
semanticscholar   +1 more source

Exploring alternatives to tumor tissue for BRCA1/2 next‐generation sequencing testing in high‐grade serous ovarian cancer: A 34‐case series of malignant ascites

Cancer Cytopathology, Volume 134, Issue 5, May 2026.
Abstract Background BRCA1/2 testing is currently recommended at diagnosis for high‐grade serous ovarian carcinoma (HGSOC) because of its impact on patients' survival when treated with poly(adenosine diphosphate ribose) polymerase inhibitors. Standard clinical practice involves analyzing BRCA1/2 genes in formalin‐fixed, paraffin‐embedded (FFPE ...
Chiara Pighi, Giulio Settanni, Marta Angelini, Laura Bortesi, Valeria Viassolo, Marcello Ceccaroni, Francesco Bruni, Stefania Gori, Gian Franco Zannoni, Anna Pesci   +9 more
wiley   +1 more source