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作者：Juna, Dong-Jae; Schumacher, Marc M.; Joa, Youngah; Faulkner, Rebecca A.; Yang, Yangyang; Tsien, Jet; Qin, Tian; DeBose-Boyd, Russell A.
作者单位：University of Texas System; University of Texas Southwestern Medical Center; University of Texas System; University of Texas Southwestern Medical Center; Dallas Baptist University
摘要：Schnyder corneal dystrophy (SCD) is a rare autosomal dominant condition characterized by the opacification of the cornea owing to the abnormal deposition of cholesterol. SCD-associated mutations have been identified in the gene encoding UbiA prenyltransferase domain-containing protein-1 (UBIAD1), which uses geranylgeranyl pyrophosphate (GGpp) to synthesize the vitamin K2 subtype menaquinone-4 (MK-4). Beyond its enzymatic role, UBIAD1 serves as a key regulator of the endoplasmic reticulum (ER)-...
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作者：Pacella, Gina N.; Kuprasertkul, Nina; Bao, Lydia; Huang, Sijia; D'souza, Carina; Prouty, Stephen M.; Anderson, Amy; Lopez, Alexandra M. Maldonado; Sinkfield, Morgan; Olingou, Cyria; Seykora, John T.; Capell, Brian C.
作者单位：University of Pennsylvania; University of Pennsylvania; University of Pennsylvania; University of Pennsylvania; University of Pennsylvania; University of Pennsylvania
摘要：The X-linked histone demethylase, UTX (KDM6A), is a master regulator of gene enhancers, though its role in self-renewing epithelia like the skin is not well understood. Here, we find that UTX is a key regulator of skin differentiation via the regulation of retinoic acid (RA) signaling, an essential metabolic pathway in both skin homeostasis, as well as in the treatment of an array of skin conditions ranging from cancer and acne to aging. Through deletion of Utx in the skin, we demonstrate dire...
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作者：Wang, Jun; Liao, Long; Yang, Bo; Miao, Beiping; Bernards, Rene; Qin, Wenxin; Sun, Chong; Wang, Cun
作者单位：Shanghai Jiao Tong University; Chinese Academy of Sciences; University of Science & Technology of China, CAS; Helmholtz Association; German Cancer Research Center (DKFZ); Netherlands Cancer Institute
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作者：Aston-Jones, Gary; Foote, Stephen L.; Morrison, John H.
作者单位：Rutgers University System; Rutgers University New Brunswick; Rutgers University System; Rutgers University New Brunswick; Rutgers University Biomedical & Health Sciences; University of California System; University of California Davis
摘要：Floyd E. Bloom, M.D. was a prominent leader and spokesperson for the neuroscience and broader scientific communities; sadly, were focused on multidisciplinary characterizations of transmitter- specific neural pathways in the brain. An innovative neuroanatomist and neurophysiologist, he spearheaded the development of new techniques and multidisciplinary paradigms for demonstrating the functions of neurotransmitters at the circuit, cellular, and subcellular levels. His work was especially import...
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作者：Sakamoto, Takashi; Leca, Julie; Zhang, Xin; Meydan, Cem; Foox, Jonathan; Ramachandran, Parameswaran; Hendrikse, Liam D.; Zhou, Wenjing; Berger, Thorsten; Fortin, Jerome; Chan, Steven M.; Chiang, Ming-Feng; Inoue, Satoshi; Li, Wanda Y.; Chu, Mandy F.; Duncan, Gordon S.; Wakeham, Andrew; Lemonnier, Francois; Tobin, Chantal; Mcwilliam, Ryan; Colonna, Isabelle; Bontoux, Christophe; Jafari, Soode Moghadas; Bowman, Robert L.; Nicolay, Brandon; Ronseaux, Sebastien; Narayanaswamy, Rohini; Levine, Ross L.; Melnick, Ari M.; Mason, Christopher E.; Minden, Mark D.; Mak, Tak W.
作者单位：University of Toronto; University Health Network Toronto; Princess Margaret Cancer Centre; Kyoto University; Universite Claude Bernard Lyon 1; UNICANCER; Centre Leon Berard; Institut National de la Sante et de la Recherche Medicale (Inserm); Cornell University; Weill Cornell Medicine; Cornell University; Weill Cornell Medicine; Cornell University; Weill Cornell Medicine; Cornell University; Weill Cornell Medicine; McGill University; National Cancer Center - Japan; Universite Paris-Est-Creteil-Val-de-Marne (UPEC); Institut National de la Sante et de la Recherche Medicale (Inserm); Universite de Toulouse; Universite Toulouse III - Paul Sabatier; CHU de Toulouse; Institut National de la Sante et de la Recherche Medicale (Inserm); Memorial Sloan Kettering Cancer Center; Agios Pharmaceuticals; Memorial Sloan Kettering Cancer Center; Memorial Sloan Kettering Cancer Center; University of Hong Kong
摘要：In human acute myeloid leukemia (AML), mutations of isocitrate dehydrogenase-1 (IDH1) often co-occur with NPM1 mutations, and less frequently with FLT3 mutations. To investigate whether the effects of IDH1 mutation differ according to the specific co-occurring mutation, we generated two strains of double knock-in mutant mice. Idh1R132H combined with Npm1c induced overt AML, whereas Idh1R132H plus Flt3ITD resulted in Flt3ITD-driven myelo-or lymphoproliferation that was minimally affected by Idh...
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作者：Daans, Nicolas; Kala, Vitezslav; Man, Siu Hang; Widmer, Martin; Yatsyna, Pavlo
作者单位：Charles University Prague; KU Leuven; Graz University of Technology
摘要：We show that, in the space of all totally real fields equipped with the constructible topology, the set of fields that admit a universal quadratic form, or have the Northcott property, is meager. The main tool is a theorem on the number of square classes of totally positive units represented by a quadratic lattice of a given rank.
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作者：Matadamas-Gomora, Diego; Nesbitt, Jason; Tapia, Rodolfo Aguilar; Lujan, Leonardo Lopez; Sjodahl, Julia; Murakami, Tatsuya; Pastrana, Alejandro
作者单位：Tulane University
摘要：This study presents the results of geochemical compositional analysis through portable X-ray fluorescence of 788 artifacts from the Templo Mayor in Mexico City. The results reveal that the Mexica (Aztecs) preferred green obsidian from Sierra de Pachuca. However, a diachronic analysis (c. 1375-1520 CE) demonstrated that they continuously consumed obsidian from seven additional sources with some temporal variations related to the sociopolitical transformations of the empire. In the early phases,...
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作者：Stupacher, Jan; Matarrelli, Benedetta; Cozzoli, Danilo; Ventura, Mario; Montinaro, Francesco; de Gennaro, Luciana; Vuust, Peter; Brattico, Elvira
作者单位：Aarhus University; Universita degli Studi di Bari Aldo Moro; Universita degli Studi di Bari Aldo Moro; University of Tartu
摘要：Substance use disorders disrupt the dopaminergic system of the human brain, which plays a central role in movement and reward processing, altering perception, and cognition. The pleasurable urge to move to music, known as groove, relies on dopamine for reward, anticipation, beat perception, and motor system activity. Using a well- established paradigm, which shows an inverted- U relationship between groove and musical complexity, we investigated how dopamine downregulation from long- term coca...
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作者：Wang, Gaojianyong; Korody, Marisa L.; Braendl, Bjoern; Hernandez-Toro, Camilo Jose; Rohrandt, Christian; Hong, Karl; Pang, Andy Wing Chun; Lee, Joyce; Migliorelli, Giovanna; Stanke, Mario; Ford, Sarah M.; Pollmann, Iris; Houck, Marlys L.; Lewin, Harris A.; Lear, Teri L.; Ryder, Oliver A.; Meissner, Alexander; Loring, Jeanne F.; Mueller, Franz-Josef
作者单位：Max Planck Society; University of Kiel; University of Kiel; Schleswig Holstein University Hospital; University of Kiel; Universitat Greifswald; Universitat Greifswald; University of California System; University of California Santa Cruz; University of California System; University of California Davis; University of California System; University of California Davis; University of California System; University of California Davis; University of Kentucky; Scripps Research Institute
摘要：The northern white rhinoceros (NWR; Ceratotherium simum cottoni) is functionally extinct, with only two nonreproductive females alive. Efforts to rescue the NWR from its inevitable demise have inspired the exploration of unconventional conservation methods, including the development of induced pluripotent stem cells (iPSCs) for the in vitro generation of artificial gametes. The integrity of iPSC genomes is critical for in vitro gametogenesis to be used for assisted reproductive technologies us...
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作者：Mannino, Robert G.; Sullivan, Julie; Frediani, Jennifer K.; George, Paul; Whitson, Jeremy; Tumlin, James; Lyon, L. Andrew; Tyburski, Erika A.; Lam, Wilbur A.
作者单位：Emory University; Children's Healthcare of Atlanta (CHOA); Emory University; Chapman University System; Chapman University; Chapman University System; Chapman University; University System of Georgia; Georgia Institute of Technology; Emory University
摘要：Anemia, characterized by low blood hemoglobin (Hgb) levels, afflicts >2 billion individuals worldwide. Here, we report real-world data generated by a smartphone app that noninvasively screens for anemia using only fingernail selfies. App data for anemia screening were obtained from >1.4 million uses across the United States enabling geographic mapping of Hgb levels. Of those, 9,061 users also self-reported complete blood count Hgb levels for comparison, resulting in accuracy and performance th...
