Results 61 to 70 of about 10,016,032 (374)

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results [PDF]

, 2019
Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio ...
Acerbi, Francesco, Baracchini, Claudio, Bedini, Gloria, Bersano, Anna, Binelli, Simona, Blecharz, Kinga, Bono, Giorgio, Bruzzone, Maria Grazia, Calloni, Maria Vittoria, Capone, Fioravanti, Capra, Valeria, Caputi, Luigi, Caria, Filomena, Carolei, Antonio, Caso, Valeria, Cenzato, Marco, Ciceri, Elisa, Ciusani, Emilio, De Lodovici, Maria Luisa, Dell' Acqua, Maria Luisa, Di Lazzaro, Vincenzo, Di Piero, Vittorio, Esposito, Silvia, Faragò, Giuseppe, Farina, Filippo, Ferroli, Paolo, Franceschetti, Silvana, Fratianni, Alessia, Gioppo, Andrea, Grisoli, Marina, Lanfranconi, Silvia, Lasserve, Elisabeth Tournier, Marzoli, Stefania Bianchi, Nardocci, Nardo, Nava, Sara, null, null, Paciaroni, Maurizio, Pantaleoni, Chiara, Pantoni, Leonardo, Parati, Eugenio Agostino, Pavanello, Marco, Perrone, Patrizia, Pezzini, Alessandro, Prontera, Paolo, Raso, Alessandro, Riva, Daria, Romani, Alfredo, Sacco, Simona, Saletti, Veronica, Sanguigni, Sandro, Sarti, Cristina, Sebastiano, Davide Rossi, Toni, Danilo, Toscano, Massimiliano, Vajkoczy, Peter, Zedde, Maria Luisa, Zibordi, Federica, Zini, Andrea   +57 more
core   +1 more source

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]

, 2020
Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C, Baple, E, Baptista, J, Caswell, R, Cunningham, MH, Dean, J, Durigon, R, Durlacher-Betzer, K, Ellard, S, Fernandez Pelayo, U, Grochowski, CM, Gunning, AC, Harel, T, Holt, IJ, Homfray, T, Jones, AWE, Lahiri, N, Lupski, JR, Misra, VK, Muñoz Oreja, M, Parrish, A, Scurr, I, Spinazzola, A, Stals, KL, Strucinska, K, Taylor, RW, Tysoe, C, Wright, CF, Yoon, WH   +28 more
core   +3 more sources

Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia

FEBS Letters, EarlyView.
This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley   +1 more source

Assessing Medical Students’ Knowledge of Genetics: Basis for Improving Genetics Curriculum for Future Clinical Practice

Advances in Medical Education and Practice, 2021
Amal A Alotaibi, Mary Anne W Cordero Basic Science Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh, 11671, Kingdom of Saudi ArabiaCorrespondence: Mary Anne W CorderoBasic Science Department, College of Medicine ...
Alotaibi AA, Cordero MAW
doaj  

circIFNGR2 regulating ankylosing spondylitis-associated inflammation through macrophage polarization

iScience, 2023
Summary: Macrophages activation is crucial in pathogenesis of rheumatic diseases like ankylosing spondylitis (AS). Circular RNAs (circRNAs)-induced macrophage-associated inflammation participates in many autoimmune diseases but remains elusive in AS ...
Minkai Song, Xiangyu Wang, Jiawen Gao, Weizhou Jiang, Enguang Bi, Taixue An, Ting Wang, Zishuo Chen, Weilu Liu, Zhanjun Shi, Jun Xiao, Chao Zhang   +11 more
doaj   +1 more source

Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)

International Journal of Molecular Sciences, 2020
Autism spectrum disorder (ASD) consists of a genetically heterogenous group of neurobehavioral disorders characterized by impairment in three behavioral domains including communication, social interaction, and stereotypic repetitive behaviors.
A. Genovese, M. Butler
semanticscholar   +1 more source

Clinical Genetics in Britain: Origins and development [PDF]

, 2010
Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
core  

Making tau amyloid models in vitro: a crucial and underestimated challenge

FEBS Letters, EarlyView.
This review highlights the challenges of producing in vitro amyloid assemblies of the tau protein. We review how accurately the existing protocols mimic tau deposits found in the brain of patients affected with tauopathies. We discuss the important properties that should be considered when forming amyloids and the benchmarks that should be used to ...
Julien Broc, Clara Piersson, Yann Fichou
wiley   +1 more source

Promoting genetics in non-alcoholic fatty liver disease: Combined risk score through polymorphisms and clinical variables

World Journal of Gastroenterology, 2018
Non-alcoholic fatty liver disease (NAFLD) has a prevalence of approximately 30% in western countries, and is emerging as the first cause of liver cirrhosis and hepatocellular carcinoma (HCC). Therefore, risk stratification emerges as fundamental in order
U. Vespasiani‐Gentilucci, Paolo Gallo, Chiara dell'Unto, Mara Volpentesta, R. Antonelli-Incalzi, A. Picardi   +5 more
semanticscholar   +1 more source

Clinical and Genetic Aspects of CADASIL [PDF]

Frontiers in Aging Neuroscience, 2020
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary cerebral small vessel disease caused by mutations in NOTCH3, is characterized by recurrent stroke without vascular risk factors, mood disturbances, and dementia.
Mao Mukai, Akiko Watanabe-Hosomi, Takashi Koizumi, Toshiki Mizuno, Ikuko Mizuta   +4 more
openaire   +4 more sources