da Rosa, Susana Elaine Alves de Lima, Larissa Barbosa Silveira, Caroline Nunes Cortes, Luiz Gustavo Ferreira de Oliveira Filho, João Bosco de Souza Reis, Rodrigo Cervato, Murilo Castro Rodrigues, Pedro Henrique Sebe de Oliveira Pelegrino, Karla Petroni, Roberta Cardoso
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Published in
Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
Acute myeloid leukemia (AML) is a myeloid neoplasm associated with a high morbidity and mortality. The diagnosis, risk stratification and therapy selection in AML have changed substantially in the last decade with the progressive incorporation of clinically relevant molecular markers. In this work, our aim was to describe a real-world genomic profi...
Krishnamoorthy, Harini Sri Kannan, Balachander Ganapathy, Dhanraj Jayaseelan, Vijayashree Priyadharsini Arumugam, Paramasivam
Published in
Journal of stomatology, oral and maxillofacial surgery
N6-methyladenosine (m6A) RNA modification and its regulatory enzymes play important roles in the modulation of inflammation by regulating inflammation-related gene expression. Dysregulation of m6A has been associated with inflammatory diseases, including periodontitis. This study aimed to investigate the potential role of m6A modification and its m...
van der Loos, Luna M D'hondt, Sofie Engelen, Aschwin H Pavia, Henrik Toth, Gunilla B Willems, Anne Weinberger, Florian De Clerck, Olivier Steinhagen, Sophie
Published in
Molecular ecology
The green seaweed Ulva is a model system to study seaweed-bacteria interactions, but the impact of environmental drivers on the dynamics of these interactions is little understood. In this study, we investigated the stability and variability of the seaweed-associated bacteria across the Atlantic-Baltic Sea salinity gradient. We characterized the ba...
García-Camarero, Tamara Remuzgo-Martínez, Sara Genre, Fernanda López-Mejías, Raquel Pulito-Cueto, Verónica Veiga, Gabriela Lee Hwang, Dae-Hyun Sáinz Laso, Fermín Gil Ongay, Aritz González-Gay, Miguel Ángel
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Published in
Revista espanola de cardiologia (English ed.)
Patients with clinically evident coronary artery disease differ in their rate of progression, which impacts prognosis. We aimed to characterize serum and genetic markers in patients with rapid clinical progression (RCP) of coronary artery disease vs those with long standing stable (LSS) disease. Retrospective study of cases (RCP) and controls (LSS)...
Matuozzo, Daniela Talouarn, Estelle Marchal, Astrid Zhang, Peng Manry, Jeremy Seeleuthner, Yoann Zhang, Yu Bolze, Alexandre Chaldebas, Matthieu Milisavljevic, Baptiste
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BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identi...
Pellegrini, Elisabeth Fernezelian, Danielle Malleret, Cassandra Gueguen, Marie-Madeleine Patche-Firmin, Jessica Rastegar, Sepand Meilhac, Olivier Diotel, Nicolas
Published in
The Journal of comparative neurology
The blood-brain barrier (BBB) is a physical interface between the blood and the brain parenchyma, playing key roles in brain homeostasis. In mammals, the BBB is established thanks to tight junctions between cerebral endothelial cells, involving claudin, occludin, and zonula occludens proteins. Estrogens have been documented to modulate BBB permeabi...
Daich Varela, Malena Conti, Giovanni Marco Malka, Samantha Vaclavik, Veronika Mahroo, Omar A Webster, Andrew R Tran, Viet Michaelides, Michel
Published in
Ophthalmology
To describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV). Multicenter retrospective cohort study. A total of 67 patients with IRD-related CLV. Review of clinical notes, ophthalmic imaging, and molecular diagnosis from 2 international centers. V...
French, Emilie Logan Kader, Leena Young, Erin E Fontes, Joseph D
Published in
Medical education online
The objective of this study was to determine physician perceptions regarding the importance of and comfort with the use of medical genetics and genomics in medical education and practice, as well as physician expectations for medical trainees. A retrospective survey was sent to physicians employed by a health system associated with a public medical...
Fortuno, Cristina Richardson, Marcy Pesaran, Tina Yussuf, Amal Horton, Carolyn James, Paul A Spurdle, Amanda B
Published in
Journal of medical genetics
The gene-disease relationship for CHEK2 remains listed as 'Li-Fraumeni syndrome 2' in public resources such as OMIM and MONDO, despite published evidence to the contrary, causing frustration among Li-Fraumeni syndrome (LFS) clinical experts. Here, we compared personal cancer characteristics of 2095 CHEK2 and 248 TP53 pathogenic variant carriers und...
Alpaslan, Murat Mestré-Godin, Sandrine Lay, Aurélie Giacalone, Guido Helaers, Raphaël Adham, Salma Kovacsik, Hélène Guillemard, Sophie Mercier, Erick Boon, Laurence
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Published in
Journal of medical genetics
Primary lymphoedema (PL) is a chronic, debilitating disease caused by developmental and functional defects of the lymphatic system. It is marked by an accumulation of interstitial fluid, fat and tissue fibrosis. There is no cure. More than 50 genes and genetic loci have been linked to PL. We sought to study systematically cell polarity signalling p...