Results 271 to 280 of about 271,662 (318)

Assessment of intrathecal therapy in the treatment of familial haemophagocytic lymphohistiocytosis

British Journal of Haematology, EarlyView.
Katarina Zivkovic, Elisabet Bergsten, Maurizio Aricó, Itziar Astigarraga, Eiichi Ishii, Stephan Ladisch, Kai Lehmberg, Milen Minkov, Vasanta Nanduri, Jan‐Inge Henter   +9 more
wiley   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Single-Cell Genetic Mapping of Gasdermin Expression Across Immune-Mediated Inflammatory Diseases. [PDF]

FASEB J
Gao X, Guo X, Yin K, Jin X.
europepmc   +1 more source

Disentangling the relationship between glucose, insulin and brain health: A UK Biobank study

Diabetes, Obesity and Metabolism, EarlyView.
Abstract Background Glycaemic traits are associated with poorer brain health and dementia risk. Recent advances in genetic instruments for specific glycaemic markers enable an in‐depth investigation of the likely nature of associations and underlying mechanisms between diabetes‐related mechanisms and brain health and dementia.
Andrew C. Mason, Nasri Fatih, Reecha Sofat, Christopher T. Rentsch, Liam Smeeth, Krishnan Bhaskaran, Nish Chaturvedi, Victoria Garfield   +7 more
wiley   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, EarlyView.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source

Assessing the impact of maternal blood pressure during pregnancy on perinatal health: a wide-angled Mendelian randomization study. [PDF]

BMC Med
Morales-Berstein F, Gonçalves-Soares A, Yang Q, McBride N, Bond T, Al Arab M, Fernández-Sanlés A, Magnus MC, Sanderson E, Hart E, Fraser A, Birchenall KA, Lawlor DA, Clayton GL, Borges MC.   +14 more
europepmc   +1 more source

Causal Effects of Gut Microbiota and Metabolites on Chronic Obstructive Pulmonary Disease: A Bidirectional Two Sample Mendelian Randomization Study

Yongkun Du, Shuai Wang, Ting Zhou, Zhongyan Zhao   +3 more
openalex   +2 more sources

Targeting the microbiota‐miRNA‐protease axis: A new therapeutic avenue in melanoma

The FEBS Journal, EarlyView.
Modulation of extracellular matrix (ECM) turnover is central to melanoma progression and metastasis, driven largely by ECM proteases. This review highlights the epigenetic regulation of ECM proteases by microRNAs and their roles in melanoma growth, invasion, and immune modulation.
Elias N. Katsoulieris, Paraskevi Ioannou, Nikolaos A. Afratis   +2 more
wiley   +1 more source

Dissecting the relationship between hypertensive disorders of pregnancy and branched-chain amino acids: An integrated investigation combining Mendelian randomization, transcriptomics, and machine learning. [PDF]

Medicine (Baltimore)
Zheng Y, Qin D, Zhang X, Sun H, Fei W, Yao Y.   +5 more
europepmc   +1 more source

Integration of Mendelian randomization and transcriptome wide association studies for causal gene identification in ovarian cancer genetic architecture. [PDF]

Discov Oncol
Yang Q, Zeng Z, Wang J, Wei X.
europepmc   +1 more source