Results 101 to 110 of about 1,273,440 (291)

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. [PDF]

, 2019
Tobacco and alcohol use are leading causes of mortality that influence risk for many complex diseases and disorders1. They are heritable2,3 and etiologically related4,5 behaviors that have been resistant to gene discovery efforts6-11.
23andMe Research Team, Bjornsdottir, Gyda, Boardman, Jason D, Boehnke, Michael, Boomsma, Dorret I, Brazel, David M, Chen, Chu, Chen, Fang, Choquet, Hélène, Cucca, Francesco, Datta, Gargi, Davies, Gareth E, Davila-Velderrain, Jose, Docherty, Anna R, Eaton, Charles B, Ehringer, Marissa A, Esko, Tõnu, Faul, Jessica D, Fiorillo, Edoardo, Foerster, Johanna R, Fritsche, Lars G, Gabrielsen, Maiken Elvestad, Gillespie, Nathan A, Gordon, Scott D, Gudbjartsson, Daniel F, Haessler, Jeffrey, Haller, Toomas, Harris, Kathleen Mullan, Heath, Andrew C, Hewitt, John K, Hickie, Ian B, Hokanson, John E, Hopfer, Christian J, Hottenga, Jouke-Jan, Huang, Hongyan, HUNT All-In Psychiatry, Hunter, David J, Iacono, William G, Jang, Seon-Kyeong, Jansen, Philip R, Jiang, Yu, Johnson, Eric O, Kamatani, Yoichiro, Kardia, Sharon LR, Keller, Matthew C, Kellis, Manolis, Kooperberg, Charles, Kraft, Peter, Krauter, Kenneth S, Laakso, Markku, Li, Yue, Lind, Penelope A, Ling, Yueh, Liu, Mengzhen, Loukola, Anu, Lutz, Sharon M, Madden, Pamela AF, Martin, Nicholas G, Matoba, Nana, McGue, Matt, McGuire, Daniel, McMahon, George, McQueen, Matthew B, Medland, Sarah E, Metspalu, Andres, Mohlke, Karen L, Mulas, Antonella, Mägi, Reedik, Nielsen, Jonas B, Okada, Yukinori, Orrù, Valeria, Palviainen, Teemu, Pandit, Anita, Peters, Ulrike, Polderman, Tinca JC, Posthuma, Danielle, Reginsson, Gunnar W, Reiner, Alexander P, Rice, John P, Rimm, Eric, Rose, Richard J, Runarsdottir, Valgerdur, Skogholt, Anne Heidi, Smith, Jennifer A, Stallings, Michael C, Stančáková, Alena, Stefansson, Hreinn, Taylor, Amy E, Thai, Khanh K, Tian, Chao, Tindle, Hilary A, Turman, Constance, Wedow, Robbee, Willemsen, Gonneke, Young, Hannah, Young, Kendra A, Zajac, Gregory JM, Zhan, Xiaowei, Zhao, Wei, Zhou, Wei   +99 more
core  

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana, Mariana Maschietto, Daniela Paz Leal, Ricardo de Santos de Oliveira, Mayara Ferreira Euzébio, Antonio Carlos dos Santos, Luciano Neder, Carlos Alberto Scrideli, Elvis Terci Valera   +8 more
wiley   +1 more source

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source

Smith–Lemli–Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development

Biomedicines
Background/Objectives: Smith–Lemli–Opitz syndrome is a metabolic autosomal recessive disease, characterized by congenital defects, with concomitant psychomotor developmental delay. The symptoms are variable and depend on the clinical form of the disease.
Dorota Olczak-Kowalczyk, Aneta Witt-Porczyk, Paula Piekoszewska-Ziętek, Małgorzata Krajewska-Walasek   +3 more
doaj   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Psychosocial Risks of Storing and Using Human Tissues in Research [PDF]

, 1997
Dr. Merz argues that genetics technology makes it more compelling that researchers plan more carefully for the collection and disposition of information derived from subjects\u27 tissues and ...
Merz, Jon F.
core   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Medical genetics [PDF]

Postgraduate Medical Journal, 1991
openaire   +3 more sources

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source