Results 61 to 70 of about 851,546 (305)

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

Biomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley, Bahar I. Meshkat, Monica M. Jablonski, T.J. Hollingsworth   +3 more
doaj   +1 more source

PAK in Alzheimer disease, Huntington disease and X-linked mental retardation. [PDF]

, 2012
Developmental cognitive deficits including X-linked mental retardation (XLMR) can be caused by mutations in P21-activated kinase 3 (PAK3) that disrupt actin dynamics in dendritic spines.
Cole, Greg M, Frautschy, Sally A, Ma, Qiu-Lan, Yang, Fusheng   +3 more
core   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Chinese Medical Journal, 2017
X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations.A total of 22 patients from unrelated ...
Yuan-Yuan Lu, He Lyu, Su-Qin Jin, Yue-Huan Zuo, Jing Liu, Zhao-Xia Wang, Wei Zhang, Yun Yuan   +7 more
openaire   +3 more sources

Bose-Einstein distribution, condensation transition and multiple stationary states in multiloci evolution of diploid population

, 2010
The mapping between genotype and phenotype is encoded in the complex web of epistatic interaction between genetic loci. In this rugged fitness landscape, recombination processes, which tend to increase variation in the population, compete with selection ...
A. Hartmann, C. Darwin, C. J. Pethick, D. Hartl, E. Ben-Naim, Ginestra Bianconi, J. H. Gillespie, J. Hofbauer, J. Monod, J. S. Yedidia, K. Huang, K. Jain, K. Sneppen, L. Peliti, M. A. Nowak, M. Mézard, Olaf Rotzschke, R. A. Fisher, U. Alon   +18 more
core   +1 more source

pH‐mediated activation of the lysosomal arginine sensor SLC38A9

FEBS Letters, EarlyView.
Cells monitor nutrient levels via the lysosomal transporter SLC38A9 to activate the mechanistic target of rapamycin complex 1 (mTORC1). This study reveals that SLC38A9 function is regulated by pH. We identified histidine 544 as a critical pH sensor that undergoes conformational changes to control amino acid efflux from lysosomes; therefore, it ...
Xuelang Mu, Ampon Sae Her, Tamir Gonen
wiley   +1 more source

The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes

Frontiers in Cell and Developmental Biology, 2023
Dental mesenchymal stem cells (DMSCs) are multipotent progenitor cells that can differentiate into multiple lineages including odontoblasts, osteoblasts, chondrocytes, neural cells, myocytes, cardiomyocytes, adipocytes, endothelial cells, melanocytes ...
Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Houwen Pan, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Yiling Yang, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Hongyuan Xu, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Anting Jin, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xiangru Huang, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Xin Gao, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Siyuan Sun, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Yuanqi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Jingyi Liu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Tingwei Lu, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Xinyu Wang, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Yanfei Zhu, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang, Lingyong Jiang   +77 more
doaj   +1 more source

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. [PDF]

, 2020
Identifying the underlying genetic drivers of the heritability of breast cancer prognosis remains elusive. We adapt a network-based approach to handle underpowered complex datasets to provide new insights into the potential function of germline variants ...
Abraham, Jean, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Ashworth, Alan, Auer, Paul L, Auvinen, Päivi, Beckmann, Matthias W, Beesley, Jonathan, Behrens, Sabine, Benitez, Javier, Bermisheva, Marina, Blomqvist, Carl, Blot, William, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Brauch, Hiltrud, Brenner, Hermann, Brucker, Sara Y, Burwinkel, Barbara, Børresen-Dale, Anne-Lise, Caldas, Carlos, Canzian, Federico, Chang-Claude, Jenny, Chanock, Stephen J, Chin, Suet-Feung, Clarke, Christine L, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Daly, Mary B, Dennis, Joe, Devilee, Peter, Dunn, Janet A, Dunning, Alison M, Dwek, Miriam, Earl, Helena M, Eccles, Diana M, Eliassen, A Heather, Ellberg, Carolina, Escala-Garcia, Maria, Evans, D Gareth, Fasching, Peter A, Figueroa, Jonine, Flyger, Henrik, Gago-Dominguez, Manuela, Gapstur, Susan M, García-Closas, Montserrat, García-Sáenz, José A, Gaudet, Mia M, George, Angela, Giles, Graham G, Goldgar, David E, González-Neira, Anna, Grip, Mervi, Guo, Qi, Guénel, Pascal, Haiman, Christopher A, Hamann, Ute, Harrington, Patricia A, Hiller, Louise, Hooning, Maartje J, Hopper, John L, Howell, Anthony, Huang, Chiun-Sheng, Huang, Guanmengqian, Hunter, David J, Håkansson, Niclas, Jakubowska, Anna, John, Esther M, Kaaks, Rudolf, Kapoor, Pooja Middha, Keeman, Renske, Kitahara, Cari M, Koppert, Linetta B, Kraft, Peter, Kristensen, Vessela N, Lambrechts, Diether, Le Marchand, Loic, Lejbkowicz, Flavio, Lindblom, Annika, Lubiński, Jan, Mannermaa, Arto, Manoochehri, Mehdi, Manoukian, Siranoush, Margolin, Sara, Martinez, Maria Elena, Maurer, Tabea, Mavroudis, Dimitrios, Meindl, Alfons, Milne, Roger L, Mulligan, Anna Marie, Neuhausen, Susan L, Nevanlinna, Heli, Newman, William G, Olshan, Andrew F, Olson, Janet E, Olsson, Håkan   +99 more
core  

NOD2 and inflammation: current insights [PDF]

, 2018
The nucleotide-binding oligomerization domain (NOD) protein, NOD2, belonging to the intracellular NOD-like receptor family, detects conserved motifs in bacterial peptidoglycan and promotes their clearance through activation of a proinflammatory ...
Cucchiara, Salvatore, Negroni, Anna, Pierdomenico, Maria, Stronati, Laura   +3 more
core   +2 more sources