Results 61 to 70 of about 77,059 (283)

Crystal structures of the human Dysferlin inner DysF domain [PDF]

, 2014
Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R., Keep, Nicholas H., Orengo, C., Sula, Altin, Yeats, C.   +4 more
core   +1 more source

Decoding the Mechanism of Action of a Parasite TGFβ Antagonist Inspires the Creation of Cell‐Type‐Specific TGFβ Modulators

Advanced Science, EarlyView.
The mammalian TGFβ interacts with ubiquitously expressed TGFBR1 and TGFBR2, and current TGFβ‐targeting agents are non‐cell‐selective. The cooperative interaction of the modular parasite TGFβ antagonist with multiple host (co‐)receptors empowers the design of TGM chimeras and bispecific antibodies that activate or inhibit TGFβ signaling in a cell ...
Maarten van Dinther, Tristin Schwartze, Jiying Zhang, Kun Fan, Gerard van der Zon, Luke Power, Cynthia S. Hinck, Claire Ciancia, Ananya Mukundan, Roman Gonzalez‐Prieto, Peter van Veelen, Rick M. Maizels, Andrew P. Hinck, Peter ten Dijke   +13 more
wiley   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman, Carli M. Tops, Jelmer Legebeke, Ting Yang, Marcos Díaz Gay, Diantha Terlouw, Lisa E. E. L. O. Lashley, Stefan Aretz, Anna K. Sommer, Mariona Terradas, Laura Valle, Richarda M. de Voer, Ludmil B. Alexandrov, Hans Morreau, Tom van Wezel, Maartje Nielsen   +15 more
wiley   +1 more source

FACTOR V LEIDEN MUTATIONS AND UNILATERAL RETINAL VEIN OCCLISION: A REGIONAL STUDY OF EASTERN PART OF TURKEY

Eurasian Journal of Medicine, 2019
Purpose: We investigated the role of factor V Leiden mutation in patients with retinal vein occlusion (RVO). Method: Factor V Leiden mutation was investigated in DNA obtained from the peripheral blood of 30 patients, diagnosed with retinal vein ...
Orhan Ateş, Orhan Baykal
doaj  

Interleukin‐5, Eosinophils, and Interleukin‐5 Pathway Inhibitors in Eosinophilic Granulomatosis With Polyangiitis

Arthritis &Rheumatology, EarlyView.
Interlukin‐5 (IL‐5) plays a crucial role in the pathogenesis of eosinophilic granulomatosis with polyangiitis (EGPA) by promoting eosinophil differentiation, activation, and survival. We present here a typical case of EGPA in which treatment with IL‐5 pathway inhibitors is prescribed, showing to be beneficial for the patient.
Alvise Berti, Christian Pagnoux
wiley   +1 more source

Factor V H1299r (Hr2) Heterozygosity: A Risk Factor For Recurrent Implantation Failure Particularly In Non-Carriers For Factor V Leiden Mutation-A Case-Control Study

Gynecology Obstetrics & Reproductive Medicine, 2022
Objective: The association between recurrent implantation failure and thrombophilia is still controversial depending on the published reports with conflicting results.
A. Seval Ozgu-Erdinc, Pınar Gulsen Coban, Nafiye Yilmaz, Zuhal Candemir, Saynur Yilmaz, Salim Erkaya   +5 more
doaj   +1 more source

Influence of factor V Leiden on the development of neovascularisation secondary to central retinal vein occlusion. [PDF]

, 2003
Aims: To investigate if the presence of factor V Leiden has an influence on the prognosis in central retinal vein occlusion (CRVO). Methods: 166 patients with CRVO were studied retrospectively. They were tested for factor V Leiden using DNA analysis. The
Lindberg, Charlotte, Hillarp, Andreas, Larsson, Jörgen   +2 more
core   +1 more source

Single‐Cell Level Characterization of B Cell Depletion and Repopulation Following Rituximab in Systemic Lupus Erythematosus

Arthritis &Rheumatology, EarlyView.
Objective Rituximab, a CD20+ B cell depletion therapy, is frequently used to treat systemic lupus erythematosus (SLE). However, variability in patient response highlights the need for a deeper understanding of the underlying immune cell dynamics of B cell depletion and repopulation.
Haerin Jang, Norzawani Buang, Catherine Sutherland, Wanseon Lee, Lauren Overend, Tarran S. Rupall, Katie L. Burnham, Matthew C. Pickering, Marina Botto, Emma E. Davenport   +9 more
wiley   +1 more source

Chlamydia pneumoniae fertőzés szerepe a makula degeneráció kialakulásában angiográfiával igazolt koszorúérbetegekben = The role of chlamydia pneumoniae infection in the pathogenesis of age-related macular degeneration in patients with proven coronary artery disease [PDF]

, 2007
Célul tűztük ki, hogy megvizsgáljuk: - a Chlamydia pneumoniae fertőzöttség mértékét AMD-ben (age related macular degeneration) szenvedő és koszorúér betegeken. - a cytokinek kiválasztását pathologias human könnymintákban (1.
Czuriga, István, Facskó, Andrea, Nagy, Annamária, Sziklai Pálné dr. Deák, Judit, Édes, István   +4 more
core  

Adverse immunostimulation in early phase clinical trials: Key findings and recommendations based on the investigator's clinical experience

British Journal of Clinical Pharmacology, EarlyView.
Problem setting The emergence of therapeutic proteins has coincided with an increase of acute adverse immunostimulation (AIS). AIS has occured in clinical trials despite compliance with regulatory guidelines on preclinical evaluation and its incidence is anticipated to increase even further.
Juliette A. van den Noort, Marella C. E. van Ruissen, Lisanne C. A. Smidt, Naomi B. Klarenbeek, Philip H. K. Kremer, Manon A. A. Jansen, Jacobus Burggraaf, Joop M. A. van Gerven, Matthijs Moerland   +8 more
wiley   +1 more source