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作者：Ryan, Allison T.; Kim, Minsoo
作者单位：University of Rochester
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作者：Wang, Junli; Sun, Xinhua; Xiong, Fei; Lapin, Dmitry; Lee, Tak; Martin-Ramirez, Sergio; Prakken, Anna; Shen, Qiaochu; Bautor, Jaqueline; Maekawa, Takaki; Parker, Jane E.
作者单位：Max Planck Society; University of Cologne; Max Planck Society; Southwest University - China; Utrecht University; Wageningen University & Research; University of Michigan System; University of Michigan
摘要：The plant immune system utilizes nucleotide-binding/leucine-rich repeat (NLR) proteins to detect pathogen virulence factors (effectors) inside host cells and transduce recognition to rapid defense. In dicotyledenous plants, pathogen activated Toll-like/interleukin-1 receptor-containing NLRs (TNLs) establish a signaling network of enhanced susceptibility 1 (EDS1)-family dimers with RPW8-type coiled-coil (CCR) domain NLRs (RNLs) to stimulate transcriptional reprogramming leading to host cell dea...
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作者：Keahi, Danielle L.; Sanders, Mathijs A.; Paul, Matthew R.; Webster, Andrew L. H.; Fang, Yin; Wiley, Tom F.; Shalaby, Samer; Carroll, Thomas S.; Chandrasekharappa, Settara C.; Sandoval-Garcia, Carolina; MacMillan, Margaret L.; Wagner, John E.; Hatten, Mary E.; Smogorzewska, Agata
作者单位：Rockefeller University; Wellcome Trust Sanger Institute; Erasmus University Rotterdam; Erasmus MC; Erasmus MC Cancer Institute; Rockefeller University; Rockefeller University; Rockefeller University; Rockefeller University; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI); University of Minnesota System; University of Minnesota Twin Cities; University of Minnesota System; University of Minnesota Twin Cities
摘要：Biallelic pathogenic variants in the essential DNA repair gene BRCA2 cause Fanconi anemia complementation group D1. Patients in this group are highly prone to develop embryonal tumors, most commonly medulloblastoma arising from the cerebellar granule cell progenitors (GCPs). GCPs undergo high proliferation in the postnatal cerebellum under Sonic Hedgehog (SHH) activation, but the type of DNA lesions that require the function of the BRCA2 to prevent tumorigenesis remains unknown. To identify su...
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作者：Mishol, Nadav; Herzlinger, Gadi; Rak, Yoel; Smilanksy, Uzy; Carmel, Liran; Gokhman, David
作者单位：Weizmann Institute of Science; Hebrew University of Jerusalem; University of Haifa; Hebrew University of Jerusalem; Weizmann Institute of Science; Tel Aviv University; Sackler Faculty of Medicine
摘要：Denisovans are an extinct group of humans whose morphology is mostly unknown. The scarcity of verified Denisovan fossils makes it challenging to study their anatomy, and how well they were adapted to their environment. We previously developed a genetic phenotyping approach to gain insight into Denisovan anatomy by detecting gene regulatory changes that likely altered Denisovan skeletal morphology. Here, we scan the Middle Pleistocene fossil record for crania matching the predicted Denisovan mo...
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作者：Rice, Amy; Zourou, Andriana C.; Cotten, Myriam L.; Pastor, Richard W.
作者单位：National Institutes of Health (NIH) - USA; NIH National Heart Lung & Blood Institute (NHLBI); Oregon State University
摘要：Membrane active peptides (MAPs) represent a diverse group of agents that disrupt the integrity of lipid membranes. One class of MAPs, antimicrobial peptides (AMPs), destroy bacteria by transiently porating the bacterial membrane causing leakage of cellular contents. Transient leakage is classified as graded, where all vesicles in a population leak partially, or all-or-none, where some vesicles leak completely. However, the molecular interactions underlying transient leakage have eluded experim...
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作者：Li, Wenjing; Feng, Yifan; Xu, Zhouyang; Xu, Xing; Yang, Kexin; Yao, Xinya; Pan, Jia- Ji; Cui, Hengxiang; Hu, Ji; Cheng, Bingbing
作者单位：ShanghaiTech University; ShanghaiTech University; Shanghai Jiao Tong University; Shanghai Jiao Tong University; ShanghaiTech University
摘要：Precise, noninvasive drug delivery to small but important brain regions is challenging and highly desired given the brain's inherent complexity and heterogeneous nature. Here, we report an approach utilizing focused ultrasound (FUS) combined with nanobubbles to successfully navigate this challenge. Compared to traditional microbubbles, nanobubbles exhibit superior acoustic properties. The nanobubbles, when exposed to FUS, induce a highly localized and reversible opening of the blood-brain barr...
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作者：Melamed, Daniel; Shemer, Revital; Bolotin, Evgeni; Yakass, Michael B.; Fink-Barkai, Dorit; Hiadzi, Edem K.; Skorecki, Karl L.; Livnat, Adi
作者单位：University of Haifa; University of Haifa; Technion Israel Institute of Technology; Rappaport Faculty of Medicine; Technion Israel Institute of Technology; University of Ghana; Bar Ilan University; Rambam Health Care Campus
摘要：Mutation rates have long been measured as averages across many genomic positions. Recently, a method to measure the rates of individual mutations was applied to a narrow region in the human hemoglobin subunit beta (HBB) gene containing the site of the hemoglobin S (HbS) mutation as well as to a paralogous hemoglobin subunit delta (HBD) region, in sperm samples from sub-Saharan African and northern European donors [Melamed etal., Genome Res. 32, 488-498 (2022)]. The HbS mutation, which protects...
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作者：Perla, Sravan; Stiegler, Amy L.; Yi, Jae-Sung; Enyenihi, Liz; Zhang, Lei; Riaz, Muhammad; An, Elvira; Qyang, Yibing; Boggon, Titus J.; Bennett, Anton M.
作者单位：Yale University; Harvard University; Harvard Medical School; Harvard University; Harvard University Medical Affiliates; Boston Children's Hospital; Harvard Medical School; Yale University; Yale University; Yale University
摘要：Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder caused by mutations in PTPN11 (protein tyrosine phosphatase nonreceptor type 11) which encodes for the protein tyrosine phosphatase, SHP2. Approximately 85% of NSML patients develop hypertrophic cardiomyopathy (HCM). Here, we show that SHP2 is recruited to tyrosyl phosphorylated protein-zero related (PZR) in NSML mice. This recruitment is required for the Iroquois homeobox (IRX) transcription factors 3 and 5 ...
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作者：Du, Samuel W.; Palczewska, Grazyna; Dong, Zhiqian; Lauterborn, Julie C.; Kaipa, Balasankara Reddy; Yan, Alexander L.; Holubowicz, Rafa; Ha, Siyoung; Chen, Paul Z.; Gall, Christine M.; Zode, Gulab; Liu, David R.; Palczewski, Krzysztof
作者单位：University of California System; University of California Irvine; University of California System; University of California Irvine; University of California System; University of California Irvine; Harvard University; Massachusetts Institute of Technology (MIT); Broad Institute; Harvard University; Howard Hughes Medical Institute; Harvard University; Massachusetts Institute of Technology (MIT); University of California System; University of California Irvine; University of California System; University of California Irvine
摘要：In vivo genome editing has the potential to address many inherited and environmental disorders. However, a major hurdle for the clinical translation of genome editing is safe, efficient delivery to disease-relevant tissues. A modality-agnostic reporter animal model that facilitates rapid, precise, and quantifiable assessment of functional delivery and editing could greatly enhance the evaluation and translation of delivery technologies. Here, we present the development of the tdTomato in vivo ...
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作者：Chukoskie, Leanne; Harteveld, Casper
作者单位：Northeastern University; Northeastern University
