Results 61 to 70 of about 8,844 (195)

Deletion of chromosome 20 in bone marrow of patients with Shwachman-Diamond syndrome, loss of the EIF6 gene and benign prognosis [PDF]

, 2012
Shwachman-Diamond Syndrome (SDS; On-line Mendelian Inheritance in Man database number 260400) is an autosomal recessive disorder caused by mutations in the SBDS gene in at least 90% of cases (Boocock et al, 2003).
Lo Curto F, Mare L, Marletta C, Maserati E, Montalbano G, Pasquali F, Pressato B, Valli R   +7 more
core   +1 more source

Proteolytic remodelling of the extracellular matrix by pericytes

The FEBS Journal, EarlyView.
Pericytes are specialised perivascular cells intimately connected with endothelial cells and essential for the maintenance of vascular beds. They contribute to the formation and remodelling of the extracellular matrix by actively secreting proteases and protease inhibitors.
Tina Burkhard, Ella Milne, Kate Qian, Paola Campagnolo, Salvatore Santamaria   +4 more
wiley   +1 more source

Prognostic value of von Willebrand factor levels in patients with metastatic melanoma treated by immune checkpoint inhibitors

Journal for ImmunoTherapy of Cancer, 2023
Background An increased incidence of thrombotic complications associated with an increased mortality rate has been observed under immune checkpoint inhibition (ICI).
Stefan W Schneider, Klaus Pantel, Christoffer Gebhardt, Robin Reschke, Christian Mess, Julia-Christina Stadler, Laura Keller, Alexander T Bauer, Julian Koett, Glenn Geidel, Isabel Heidrich, Sabine Vidal-y-Sy, Antje Andreas, Carlotta Stramaglia, Mark Sementsov, Wiebcke Haberstroh, Benjamin Deitert, Inka Lilott Hoehne, Thomas Haalck   +18 more
doaj   +1 more source

Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report [PDF]

, 2015
INTRODUCTION: Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction.
Abdulkadir Unsal, Cuneyt Akgol, David Kavanagh, Ekrem Kara, Elbis Ahbap, Mustafa Sevinc, Tamer Sakaci, Taner Basturk, Tim HJ Goodship, Tuncay Sahutoglu, Vicky Brocklebank, Yener Koc   +11 more
core   +1 more source

Seventh Åland Island Meeting on von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The seventh Åland Island Meeting on von Willebrand Disease (VWD) was held on the Åland archipelago in Finland, from 26 to 28 September 2024. Aim The meeting brought together experts in the field of VWD from around the world to share the latest advances and knowledge in VWD.
Riitta Lassila, Ruben Bierings, Nathan T. Connell, Fernando F. Corrales‐Medina, Augusto B. Federici, Veronica H. Flood, Floor Heubel‐Moenen, Jill M. Johnsen, Geoffrey Kuppens, Davide Matino, Carolyn Millar, Ingmar Schoen, Anish Sharda, Robert F. Sidonio Jr, Alok Srivastava, Timea Szanto, Angela C. Weyand, Erik Berntorp   +17 more
wiley   +1 more source

PROTEOLYTIC PROCESSING OF VON WILLEBRAND FACTOR BY ADAMTS13 AND LEUKOCYTE PROTEASES

Mediterranean Journal of Hematology and Infectious Diseases, 2013
ADAMTS13 is a 190 kDa zinc protease encoded by a gene located on chromosome 9q34.   This protease specifically hydrolyzes von Willebrand factor (VWF) multimers, thus causing VWF size reduction.
Stefano Lancellotti, Maria Basso, Raimondo De Cristofaro   +2 more
doaj   +1 more source

Multi-lectin Affinity Chromatography and Quantitative Proteomic Analysis Reveal Differential Glycoform Levels between Prostate Cancer and Benign Prostatic Hyperplasia Sera. [PDF]

, 2018
Currently prostate-specific antigen is used for prostate cancer (PCa) screening, however it lacks the necessary specificity for differentiating PCa from other diseases of the prostate such as benign prostatic hyperplasia (BPH), presenting a clinical need
Adusumilli, Ravali, Brooks, James D, Kullolli, Majlinda, Mallick, Parag, Pitteri, Sharon J, Tanimoto, Cheylene, Totten, Sarah M   +6 more
core   +2 more sources

Genetic Susceptibility to Periodontitis

Journal of Periodontal Research, EarlyView.
Aim: The aim of this narrative review was to identify genes carrying risk alleles associated with an increased risk of periodontitis and to place them in a biological context. Methods: The literature was reviewed based on predefined criteria. Results: The identified genes largely fall into functions linking immune response with tissue repair. The genes
Gesa M. Richter, Arne S. Schaefer
wiley   +1 more source

Atypical hemolytic uremic syndrome [PDF]

, 2011
Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia, thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shiga-toxin-HUS and even if some authors include secondary aHUS due to Streptococcus pneumoniae
Chantal Loirat, Véronique Frémeaux-Bacchi   +1 more
core   +2 more sources

Integrative genomic and functional characterization of ADAMTS3 reveals its inflammatory regulation via NF‐κB and STAT3 pathways in osteosarcoma

Journal of Cell Communication and Signaling, Volume 20, Issue 2, June 2026.
Abstract Osteosarcoma (OS) is an aggressive bone malignancy characterized by genomic instability and extensive extracellular matrix (ECM) remodeling. Members of the ADAMTS family are matrix‐associated proteases implicated in tumorigenesis; however, their roles in OS remain poorly defined. This study provides a comprehensive genomic, transcriptomic, and
Ehed Muhammed Aymaz, Meltem Alper, Feyza Nur Sav, Tuğşen Aydemir, Feray Köçkar   +4 more
wiley   +1 more source