Results 81 to 90 of about 114,676 (292)

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

, 2021
Tala Shahin, Hye Sun Kuehn, Mohamed R. Shoeb, Lisa Gawriyski, Sarah Giuliani, Peter Repiščák, Birgit Hoeger, Özlem Yüce Petronczki, Sevgi Köstel Bal, Samaneh Zoghi, Jasmin Dmytrus, Davide Seruggia, Irinka Castanon, Nima Rezaei, Markku Varjosalo, Florian Halbritter, Sergio D. Rosenzweig, Kaan Boztuǧ   +17 more
openalex   +2 more sources

Quantitative Proteomics and CRISPR/Cas9 Editing Reveal UPR‐Mediated Control of Immunoglobulin Homeostasis in Hybridomas

Advanced Science, EarlyView.
BCR sequencing and subclone analysis correlated immunoglobulin (Ig) chain loss in dysfunctional hybridomas with disrupted monoclonal antibody homeostasis. Proteomics‐guided CRISPR/Cas9 editing revealed that the unfolded protein response (UPR) regulates aberrant Ig synthesis.
Rubing Zou, Xinying Lu, Ying Liu, Peiyu Yang, Shuo Sun, Yihua Liu, Yinyuan Mo, Guonian Zhu, Jae Seong Lee, Yirong Guo   +9 more
wiley   +1 more source

Cancer‐Like Fragmentomic Characteristics of Somatic Variants in Cell‐Free DNA

Advanced Science, EarlyView.
We report that in non‐cancerous subjects, cell‐free (cfDNA) molecules harboring somatic variants exhibit cancer‐like fragmentomic characteristics associated with clonal hematopoiesis. Importantly, these somatic variant‐associated fragmentomic aberrations are more pronounced in cancer patients. Leveraging such somatic variant‐associated signals in cfDNA,
Zhenyu Zhang, Yunyun An, Mengqi Yang, Yuqi Pan, Xiaoyi Liu, Fanglei Gong, Huizhen Lin, Bianbian Tang, Yunxia Bai, Xin Zhao, Yu Zhao, Changzheng Du, Kun Sun   +12 more
wiley   +1 more source

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

Advanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang, Weihua Pan, Runtian Gao, Heng Hu, Wentao Gao, Murong Zhou, Yu‐Hang Yin, Zhipeng Qian, Shuilin Jin, Guohua Wang   +9 more
wiley   +1 more source

Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease

Scientific Reports
Clear cell renal cell carcinoma (ccRCC) arising in the setting of von Hippel–Lindau (VHL) disease is a rare type of kidney cancer and features VHL germline mutation. This type of ccRCC is rarely characterised at the single-cell level. In this work, whole-
Wenhao Lu, Tingwei Jin, Xiaoxiang Yu, Yixuan Liu, Zheng Lu, Shengzhu Huang, Zheng Wen, Haibiao Yan, Cheng Su, Yu Ye, Ziyan Huang, Zengnan Mo, Zhenyuan Yu   +12 more
doaj   +1 more source

The Regulatory Role of Iron Transporter SLC39A13 in Liver Fibrosis

Advanced Science, EarlyView.
SLC39A13/ZIP13, a newly discovered intracellular iron transporter, delivers iron to the ER/Golgi to catalyze procollagen hydroxylation during collagen maturation. Here, we systematically characterize the cell type‐specific functions of ZIP13 across distinct hepatic cell populations, and identify hepatic stellate cell‐specific ZIP13 as a promising and ...
Shanshan Guo, Yalin Wang, Binyu Lu, Yu Zhang, David M. Frazer, Bing Zhou   +5 more
wiley   +1 more source

Nanoparticle Immunoadjuvant Complexes Augment Germinal Center Responses to Vaccination

Advanced Science, EarlyView.
Scaffolding IL‐21 on the surface of a self‐assembling nanoparticle immunogen drives improved germinal center and humoral immune responses. These nanoparticle immunoadjuvant complexes (NICs) functionally modulate the germinal center driving improved somatic hypermutation and antibody maturation, suggesting this platform has potential utility as a ...
Nicholas J. Tursi, Colby J. Agostino, Jinwei Huang, Toshitha Kannan, Niklas Laenger, Jennifer Londregan, Katlyn Lederer, Michaela Helble, Nicole Bedanova, Cory Livingston, Ebony N. Gary, Madison McCanna, Marta Tarquis Medina, Rumi Habib, Ignacio Rodriguez Relaño, Ivan Maillard, Ami Patel, David Allman, Andrew Kossenkov, Amelia Escolano, Daniel W. Kulp, David. B. Weiner   +21 more
wiley   +1 more source

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer

npj Breast Cancer
Germline mutations in BRCA1 and BRCA2 (gBRCA1/2) are required for a PARP inhibitor therapy in patients with HER2-negative (HER2−) advanced breast cancer (aBC).
Peter A. Fasching, Chunling Hu, Steven N. Hart, Matthias Ruebner, Eric C. Polley, Rohan D. Gnanaolivu, Andreas D. Hartkopf, Hanna Huebner, Wolfgang Janni, Peyman Hadji, Hans Tesch, Sabrina Uhrig, Johannes Ettl, Michael P. Lux, Diana Lüftner, Markus Wallwiener, Lena A. Wurmthaler, Chloë Goossens, Volkmar Müller, Matthias W. Beckmann, Alexander Hein, Daniel Anetsberger, Erik Belleville, Pauline Wimberger, Michael Untch, Arif B. Ekici, Hans-Christian Kolberg, Arndt Hartmann, Florin-Andrei Taran, Tanja N. Fehm, Diethelm Wallwiener, Sara Y. Brucker, Andreas Schneeweiss, Lothar Häberle, Fergus J. Couch   +34 more
doaj   +1 more source

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma

Frontiers in Oncology
Retinoblastoma (RB) is the most common primary intraocular malignancy in children and mostly initiates with biallelic inactivation of the RB1 gene. Hereditary retinoblastoma accounts for 40% of all cases, with only 6%–10% of patients having a positive ...
Guo-qian He, Guo-qian He, Ying-chun Zheng, Lin-jun Tan, Lin-jun Tan, Cheng-qi Shen, Cheng-qi Shen, Ju Gao, Ju Gao, Fu Xiong, Xia Guo, Xia Guo   +11 more
doaj   +1 more source

Mechanisms of Aristolochic Acid Resistance in Specialist Butterflies and Evolutionary Insights for Potential Protective Pathways

Advanced Science, EarlyView.
The study provides an extreme example of insect adaptation to highly toxic defenses of host plants, and investigates the complex strategies to resist carcinogenic aristolochic acids, including physical isolation, metabolic detoxification, and DNA repair.
Yang Luan, Yubo Zhang, Jingjing Li, Jianqing Zhu, Yuyang Lei, Yushi Hu, Zhenqiang Xin, Tianpei Xie, Jiang Zheng, Yuanyuan Lin, Jingjing Shen, Yiyi Cao, Xinyue You, Jing Xi, Jiaying Wu, Weiying Liu, Xinyu Zhang, Yuanting Zheng, David J. Lohman, Leming Shi, Wei Zhang   +20 more
wiley   +1 more source