Results 111 to 120 of about 34,114 (259)

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Functional assessment of inherited myeloid neoplasm‐associated SAMD9L germline variants via Monoallelic CRISPR modelling

British Journal of Haematology, EarlyView.
Summary While the majority of myeloid neoplasms are sporadic, the increasing application of germline genetic testing has led the World Health Organization to designate ‘Myeloid malignancies with germline predisposition’ as a distinct clinical entity, carrying major implications for clinical care and research.
Elena Vuelta, Alessandro Liquori, Matias Morín, Lucia Soletto, Miguel Ángel Marugal, Marta Santiago‐Balsera, Miguel Gallardo, Miguel Ángel Moreno‐Pelayo, José Cervera, Alejandra Sanjuan‐Pla   +9 more
wiley   +1 more source

Pertumbuhan dan Produksi Rumput Odot (Pennisetum purpureum cv. Mott) pada Tanah Entisol di Lahan Kering Akibat Pemberian Pupuk Organik Cair Berbahan Feses Babi Dengan Volume Air Berbeda

Jurnal Ilmu Peternakan Terapan, 2019
This study aims to examine the growth and production of odot grass (Pennisetum purpureum cv. Mott) on entisol soils with different amounts of water volume in Liquid Organic Fertilizer (LOF) made of pig feces.
Celeste De Araujo, Maria Yasinta Un, Bernadete Barek Koten, Melkianus D. S. Randu, Redempta Wea   +4 more
doaj  

Genetic Modifiers of ABCA1 Activity Interact with APOE Isoforms to Mediate Alzheimer's Disease Risk. [PDF]

Ann Neurol
Objective ATP‐binding cassette transporter A1 (ABCA1) has been associated with Alzheimer's disease (AD), but the mechanisms by which it impacts disease risk are unknown. ABCA1 is known to bind apolipoprotein E (ApoE) and catalyze apolipoprotein lipidation.
Peña-Tauber A, Hernández Arriaza R, Reil D, Muntaner M, Park J, Grenier-Boley B, Hulsman M, Amouyel P, Bellenguez C, Charbonnier C, Deleuze JF, Dols-Icardo O, Hardy J, Holstege H, Nicolas G, Mead S, Wagner M, Ramirez A, Sims R, van Swieten J, Willams J, Lambert JC, Khosla C, Le Guen Y, Greicius MD.   +24 more
europepmc   +2 more sources

Renal‐vascular axis: unmasking its role in vascular endothelial growth factor‐inhibitor vascular toxicity in cancer patients

British Journal of Pharmacology, EarlyView.
Abstract Vascular toxicity is a growing concern in cancer patients receiving vascular endothelial growth factor inhibitor (VEGFi) therapy, posing a significant threat to patient prognosis. While the primary mechanism of VEGFi‐induced vascular toxicity is linked to redox‐sensitive reactions that disrupt vascular tone, leading to hypertension and ...
Grace Whelan, Karla B. Neves
wiley   +1 more source

lof

lof? Withdraw.

core  

Gut microbiota as a novel therapeutic target for eating disorders and obesity

British Journal of Pharmacology, EarlyView.
The graphical abstract highlights the bidirectional interaction between the gut microbiota and central homeostatic and hedonic mechanisms regulating food intake, which contributes to overweight and obesity. It also illustrates emerging microbiota‐based biomarkers and therapeutic strategies (including prebiotics, probiotics, postbiotics, synbiotics and ...
Solveiga Samulėnaitė, Victor Mathis, Emmanuel Darcq, Aurelijus Burokas, Elena Martín‐García, Rafael Maldonado   +5 more
wiley   +1 more source

LOF 1B or not LOF 1B, That is the Question: Insights From a New Mouse Model of SCN1B DEE

Epilepsy Currents
Epilepsy and sudden unexpected death in epilepsy in a mouse model of human SCN1B-linked developmental and epileptic encephalopathy. Chen C, Ziobro J, Robinson-Cooper L, Hodges SL, Chen Y, Edokobi N, Lopez-Santiago L,
openaire   +2 more sources

Elucidating PI3K/AKT/PTEN Pathway Alterations at Single‐Cell Level in CTCs From HR+/HER2− Metastatic Breast Cancer

Cancer Science, EarlyView.
Single CTC analysis revealed extensive inter‐ and intra‐patient heterogeneity of PI3K/AKT/PTEN pathway alterations in HR+/HER2− metastatic breast cancer, capturing both SNVs and CNAs, including PTEN loss‐of‐function events. Longitudinal CTC profiling also uncovered dynamic clonal evolution, highlighting its potential to complement tissue and ctDNA ...
Tania Rossi, Michela Palleschi, Caterina Gianni, Filippo Merloni, Alessandra Virga, Sara Bandini, Davide Angeli, Michela Tebaldi, Roberta Maltoni, Paola Ulivi, Antonino Musolino   +10 more
wiley   +1 more source

Characterization of a C9orf72 Knockout Danio rerio model for ALS and cross-species validation of potential therapeutics screened in Caenorhabditis elegans.

PLoS ONE
Intronic hexanucleotide repeat expansions in the C9orf72 gene represent the most common genetic cause of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.
Alexandre Emond, Carl Laflamme, Martine Therrien, Meijiang Liao, Claudia Maios, Audrey Labarre, Pierre Drapeau, J Alex Parker   +7 more
doaj   +1 more source