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Connexins and deafness: From molecules to disease

Seminars in Hearing 2006年第3期27卷 148-159页

作者： Azaiez, Hela Van Camp, Guy Smith, Richard J. H. Department of Otolaryngology-Head and Neck Surgery University of Iowa Hospitals and Clinics Iowa City IA United States Interdepartmental Ph.D. Program in Genetics University of Iowa Hospitals and Clinics Iowa City IA United States Department of Medical Genetics University of Antwerp Antwerp Belgium Department of Otolaryngology Iowa City IA 52240 120 Hawkins Drive United States

Gap junctions are important structures in cell communication. Mutations in connexins, the building blocks of gap junctions, are involved in several human disorders including skin disease, peripheral neuropathy, cataracts, and deafness, the most common of all sensory deficits. Mutations in five connexin-encoding genes-GJB1, GJB2, GJB3, GJB6, and GJA1-are linked to deafness. GJB2 is of particular importance since mutations in this gene are the most common cause of congenital autosomal recessive nonsyndromic deafness. The severity of deafness caused by mutations in GJB2 varies from mild to profound as a function of the type of mutation. Persons who segregate two mutations of GJB2 that result in no protein product (also known as truncating mutations) are more likely to have severe-to-profound hearing loss than are persons with one truncating mutation and one missense mutation (a mutation that results in the generation of an abnormal protein product). Persons carrying two missense mutations have the mildest degree of GJB2-related deafness. Understanding these phenotype-genotype relationships and the limitations of GJB2 mutation screening is of major importance for genetic counseling. Copyright © 2006 by Thieme Medical Publishers, Inc.

关键词： Clinical application Connexins deafness dFNB1 Genotype-phenotype

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Correction to: Multiplexed inhibition of immunosuppressive genes with Cas13d for combinatorial cancer immunotherapy (Nature Biotechnology, (2025), 10.1038/s41587-024-02535-2)

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Nature Biotechnology 2025年

作者： Zhang, Feifei Chow, Ryan d. He, Emily dong, Chuanpeng Xin, Shan Mirza, daniyal Feng, Yanzhi Tian, Xiaolong Verma, Nipun Majety, Medha Zhang, Yueqi Wang, Guangchuan Chen, Sidi Department of Genetics Yale University School of Medicine New HavenCT United States System Biology Institute Yale University West HavenCT United States Center for Cancer Systems Biology Yale University West HavenCT United States M.D.–Ph.D. Program Yale University West HavenCT United States Molecular Cell Biology Genetics and Development Program Yale University New HavenCT United States Yale College New HavenCT United States Immunobiology Program Yale University New HavenCT United States Department of Therapeutic Radiology Yale University School of Medicine New HavenCT United States Department of Neurosurgery Yale University School of Medicine New HavenCT United States Yale Comprehensive Cancer Center Yale University School of Medicine New HavenCT United States Yale Stem Cell Center Yale University School of Medicine New HavenCT United States Yale Center for Biomedical Data Science Yale University School of Medicine New HavenCT United States Key Laboratory of Multi-Cell Systems Shanghai Institute of Biochemistry and Cell Biology Center for Excellence in Molecular Cell Science Chinese Academy of Sciences Shanghai China

Correction to: Nature Biotechnologyhttps://***/10.1038/s41587-024-02535-2, published online 16 January 2025. In the version of the article initially published, Sidi Chen was incorrectly associated with a present address. This has now been corrected in the HTML and PdF versions of the article. © The Author(s), under exclusive licence to Springer Nature America, Inc. 2025.

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Correction: A network-based approach to overcome BCR::ABL1-independent resistance in chronic myeloid leukemia

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Cell communication and signaling : CCS 2025年第1期23卷 205页

作者： Valeria Bica Veronica Venafra Giorgia Massacci Simone Graziosi Sara Gualdi Gessica Minnella Federica Sorà Patrizia Chiusolo Maria Elsa Brunetti Gennaro Napolitano Massimo Breccia dimitrios Mougiakakos Martin Böttcher Thomas Fischer Livia Perfetto Francesca Sacco Ph.D. Program in Cellular and Molecular Biology Department of Biology University of Rome 'Tor Vergata' Rome Italy. Department of Biology and Biotechnologies "C. Darwin" University of Rome La Sapienza Rome Italy. Department of Biology University of Rome Tor Vergata Rome Italy. Sezione di Ematologia Dipartimento di Scienze Radiologiche ed Ematologiche Università Cattolica del Sacro Cuore Roma Italy. Dipartimento di Scienze di laboratorio ed Ematologiche Fondazione Policlinico A. Gemelli IRCCS Roma Italy. Telethon Institute of Genetics and Medicine (TIGEM) Naples Italy. Department of Medical and Translational Science Federico II University Naples Italy. Scuola Superiore Meridionale (SSM) School for Advanced Studies Genomics and Experimental Medicine program Naples Italy. Department of Translational and Precision Medicine Azienda Policlinico Umberto I Sapienza University of Rome Rome Italy. Health campus for Inflammation Immunity and Infection (GCI3) University of Magdeburg Magdeburg Germany. Department of Hematology Oncology and Cell Therapy University of Magdeburg Magdeburg Germany. Department of Biology and Biotechnologies "C. Darwin" University of Rome La Sapienza Rome Italy. livia.perfetto@uniroma1.it. Department of Biology University of Rome Tor Vergata Rome Italy. francesca.sacco@uniroma2.it. Telethon Institute of Genetics and Medicine (TIGEM) Naples Italy. francesca.sacco@uniroma2.it.

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Advanced ZnFe₂O₄@f-CNF electrode: A robust electrochemical sensor for Tert-butyl hydroquinone detection in food and edible oil

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Food Chemistry 2025年 486卷 144648页

作者： Yemmi, Rajeshwari Swamy, B.E. Kumara Manjunath, Kumbar Mudakappa Yusuf, Kareem Aljuwayid, Ahmed M. Govindasamy, Mani 577451 India Division of Plant Breeding and Genetics Central Coffee Research Institute Karnataka Chikkamagaluru577117 India Department of Chemistry College of Science King Saud University Riyadh11451 Saudi Arabia International Ph.D. Program in Innovative Technology of Biomedical Engineering and Medical Devices Ming Chi University of Technology New Taipei City243303 Taiwan Research Center for Intelligence Medical Devices Ming Chi University of Technology New Taipei City243303 Taiwan Department of Chemistry Korea University Seoul Seongbuk-gu Korea Republic of

Fabrication of a binary electrocatalyst is expounded in this study, which is based on a biocompatible ZnFe2O4 nanoparticles that is adorned onto the functionalized carbon nanofiber (f-CNF) through a straightforward ultrasonication technique. This electrocatalyst is applied for the reliable quantification of the food additive Tert-Butyl Hydroquinone (TBHQ) from various food samples and products. The electrochemical performance of the ZnFe2O4@f-CNF composite is investigated using cyclic voltammetry and electrochemical impedance spectroscopy analysis. The structural features of the composite, characterized by X-ray diffraction, scanning electron microscopy and transmission electron microscopy which reveals its crystalline and porous attributes. Then electrochemical characteristics of the ZnFe2O4@f-CNF composite for TBHQ detection is evaluated employing cyclic voltammetry and differential pulse voltammetry methodologies. Notably, this composite demonstrates a remarkable low detection limit (LOd) of 0.026 μM with a good linear detection range, accompanied by a favorable sensitivity towards TBHQ. Lastly, the developed sensor system manifests a substantial recovery range for real sample analysis, suggesting its potential as a viable alternative to existing diagnostic tools for TBHQ detection. © 2025 Elsevier Ltd

关键词： Cyclic voltammetry

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Remote access to neurosurgical ICU physiological data using the world wide web

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Studies in Health Technology and Informatics 1996年 29卷 242-249页

作者： Nenov, Valeriy Klopp, John Division of Neurosurgery University of California at Los Angeles School of Medicine Los Angeles CA 90024 United States Computer Science Department United States Interdepartmental Neuroscience Ph.D. Program University of California at Los Angeles Los Angeles CA 90024 United States

There is a significant demand by physicians and clinical researchers for remote access to continuously acquired physiological patient data. Until recently such access was technically unfeasible. However, with the recent development of Internet-based World Wide Web (WWW) client/server applications and underlying communication protocols, there is now a real possibility for the development of costeffective, platform independent solutions to this problem. We have devised a way using existing WWW tools and minimal startup costs to provide access to current as well as previously acquired physiological patient data. physicians and clinical researchers can obtain access to these data through personal computers located in the office, at home or even through portable computers while traveling to conferences or while on vacation. © The authors 1996.

关键词： Hospital data processing

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Rabs on the fly: Functions of Rab GTPases during development

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Small GTPases 2019年第2期10卷 89-98页

作者： Caviglia, Sara Flores-Benitez, david Lattner, Johanna Luschnig, Stefan Brankatschk, Marko Danish Stem Cell Center (DanStem) University of Copenhagen Copenhagen Denmark Max Planck Institute for Cell Biology and Genetics (MPI-CBG) Dresden Germany Institute of Molecular Life Sciences and Ph.D. Program in Molecular Life Sciences University of Zurich Zurich Switzerland Institute of Neurobiology and Cluster of Excellence Cells-in-Motion (EXC 1003–CiM) University of Münster Münster Germany The Biotechnological Center of the TU Dresden (BIOTEC) Dresden Germany

The organization of intracellular transport processes is adapted specifically to different cell types, developmental stages, and physiologic requirements. Some protein traffic routes are universal to all cells and constitutively active, while other routes are cell-type specific, transient, and induced under particular conditions only. Small GTPases of the Rab (Ras related in brain) subfamily are conserved across eukaryotes and regulate most intracellular transit pathways. The complete sets of Rab proteins have been identified in model organisms, and molecular principles underlying Rab functions have been uncovered. Rabs provide intracellular landmarks that define intracellular transport sequences. Nevertheless, it remains a challenge to systematically map the subcellular distribution of all Rabs and their functional interrelations. This task requires novel tools to precisely describe and manipulate the Rab machinery in vivo. Here we discuss recent findings about Rab roles during development and we consider novel approaches to investigate Rab functions in vivo. © 2017, © 2017 The Author(s). Published with license by Taylor & Francis. © 2017, © Sara Caviglia, david Flores-Benitez, Johanna Lattner, Stefan Luschnig, and Marko Brankatschk.

关键词： cell polarity lysosome related organelles (LROs) Rab GTPases Staccato/Munc13-4

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Electrochemical sensor based on ZnO@MWCNT/ glassy carbon electrode for the detection of warfarin (blood anticoagulant)

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Surfaces and Interfaces 2025年 67卷

作者： Manjunath, Kumbar Mudakappa Yemmi, Rajeshwari Swamy, B.E. Kumara Eldesoky, Gaber E. Govindasamy, Mani Division of Plant Breeding and Genetics Central Coffee Research Institute Karnataka Chikkamagaluru 577117 India Department of Chemistry Korea University Seoul Seongbuk-gu South Korea Department of Industrial Chemistry Kuvempu University Karnataka Shivamogga India Department of Chemistry College of Science King Saud University P. O. Box 2455 Riyadh 11451 Saudi Arabia International Ph.D. Program in Innovative Technology of Biomedical Engineering and Medical Devices Ming Chi University of Technology New Taipei City 243303 Taiwan Centre for Applied Research Saveetha School of Engineering Saveetha Institute of Medical and Technical Sciences (SIMATS) Tamil Nadu Chennai 602105 India Research Center for Intelligence Medical Devices Ming Chi University of Technology New Taipei City 243303 Taiwan

This study employed ZnO nanoparticles, multi-walled carbon nanotubes (MWCNTs), and a modified glassy carbon electrode (GCE) as a quick and sensitive method for detecting warfarin at biological ph levels. The ultrasonication technique was utilized in the synthesis of the ZnO@MWCNTs nanocomposite. The ZnO@MWCNTs were characterized using Transmission electron microscopy (TEM), Scanning electron microscopy (SEM), X-ray diffraction (XRd), spectroscopy, analytical techniques, and electrochemical impedance spectroscopy (EIS). Cyclic voltammetry (CV) as well as differential pulse voltammetry (dPV) techniques are employed in the presence of PBS buffer as an electrolyte. We observed unique oxidative peak currents an indication of the electrochemical mechanism of warfarin at low potentials for ZnO @MWCNTs/GCE. Moreover, we successfully attained effective electrochemical detection of warfarin utilizing the proposed sensor, which exhibited an excellent low limit of detection (LOd) of 0.0188 μM across a linear range of 0.02–2867.37 μM. The proposed sensor exhibits excellent storage stability, repeatability, and reproducibility, and has been effectively utilized for the quantification of warfarin in real samples, including blood serum and urine as obtained good recovery and RSd value. © 2025 Elsevier B.V.

关键词： differential pulse voltammetry Glassy carbon electrode Multiwalled carbon nanotubes Warfarin ZnO nanoparticles

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Author Correction: Multiplexed inhibition of immunosuppressive genes with Cas13d for combinatorial cancer immunotherapy

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Nature biotechnology 2025年 2025 Feb 3页

作者： Feifei Zhang Ryan d Chow Emily He Chuanpeng dong Shan Xin daniyal Mirza Yanzhi Feng Xiaolong Tian Nipun Verma Medha Majety Yueqi Zhang Guangchuan Wang Sidi Chen Department of Genetics Yale University School of Medicine New Haven CT USA. System Biology Institute Yale University West Haven CT USA. Center for Cancer Systems Biology Yale University West Haven CT USA. M.D.-Ph.D. Program Yale University West Haven CT USA. Molecular Cell Biology Genetics and Development Program Yale University New Haven CT USA. Yale College New Haven CT USA. Immunobiology Program Yale University New Haven CT USA. Department of Therapeutic Radiology Yale University School of Medicine New Haven CT USA. Department of Genetics Yale University School of Medicine New Haven CT USA. guangchuan.wang@***. System Biology Institute Yale University West Haven CT USA. guangchuan.wang@***. Center for Cancer Systems Biology Yale University West Haven CT USA. guangchuan.wang@***. Key Laboratory of Multi-Cell Systems Shanghai Institute of Biochemistry and Cell Biology Center for Excellence in Molecular Cell Science Chinese Academy of Sciences Shanghai China. guangchuan.wang@***. Department of Genetics Yale University School of Medicine New Haven CT USA. sidi.chen@yale.edu. System Biology Institute Yale University West Haven CT USA. sidi.chen@yale.edu. Center for Cancer Systems Biology Yale University West Haven CT USA. sidi.chen@yale.edu. M.D.-Ph.D. Program Yale University West Haven CT USA. sidi.chen@yale.edu. Molecular Cell Biology Genetics and Development Program Yale University New Haven CT USA. sidi.chen@yale.edu. Yale College New Haven CT USA. sidi.chen@yale.edu. Immunobiology Program Yale University New Haven CT USA. sidi.chen@yale.edu. Department of Neurosurgery Yale University School of Medicine New Haven CT USA. sidi.chen@yale.edu. Yale Comprehensive Cancer Center Yale University School of Medicine New Haven CT USA. sidi.chen@yale.edu. Yale Stem Cell Center Yale University School of Medicine New Haven CT USA. sidi.chen@yale.edu. Yale Center for Biomedical Data Science Yale University School of Medicine New Have

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Structure-Guided discovery of Pd-1/Pd-L1 Interaction Inhibitors: Peptide design, Screening, and Optimization via Computation-Aided phage display Engineering

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Journal of Chemical Information and Modeling 2024年第5期64卷 1615-1627页

作者： Tseng, Tien-Sheng Lee, Chao-Chang Chen, Po-Juei Lin, Chiu-Yuen Chen, Wang-Chuan Lee, Yu-Ching Lin, Jiun-Han Chen, Kaun-Wen Tsai, Keng-Chang Institute of Molecular Biology National Chung Hsing University Taichung40202 Taiwan National Research Institute of Chinese Medicine Ministry of Health and Welfare Taipei11221 Taiwan The School of Chinese Medicine for Post Baccalaureate I-Shou University Kaohsiung824005 Taiwan Department of Chinese Medicine E-Da Hospital Kaohsiung824005 Taiwan TMU Research Center of Cancer Translational Medicine Taipei Medical University Taipei11031 Taiwan Ph.D. Program in Medical Biotechnology College of Medical Science and Technology Taipei Medical University Taipei11031 Taiwan Department of Industrial Technology Ministry of Economic Affairs Taipei100210 Taiwan Food Industry Research and Development Institute Hsinchu30062 Taiwan Molecular Science and Digital Innovation Center Genetics Generation Advancement Corporation Taipei11949 Taiwan

Cancer immunotherapy harnesses the immune system to combat tumors and has emerged as a major cancer treatment modality. The Pd-1/Pd-L1 immune checkpoint modulates interactions between tumor cells and T cells and has been extensively targeted in cancer immunotherapy. However, the monoclonal antibodies known to target this immune checkpoint have considerable side effects, and novel Pd-1/Pd-L1 inhibitors are therefore required. Herein, a peptide inhibitor to disrupt Pd-1/Pd-L1 interactions was designed through structure-driven phage display engineering coupled to computational modification and optimization. BetaPb, a novel peptide library constructed by using the known structure of Pd-1/Pd-L, was used to develop inhibitors against the immune checkpoint, and specific peptides with high affinity toward Pd-1 were screened through enzyme-linked immunosorbent assays, homogeneous time-resolved fluorescence, and biolayer interferometry. A potential inhibitor, B8, was preliminarily screened through biopanning. The binding affinity of B8 toward Pd-1 was confirmed through computation-aided optimization. Assessment of B8 variants (B8.1, B8.2, B8.3, B8.4, and B8.5) demonstrated their attenuation of Pd-1/Pd-L1 interactions. B8.4 exhibited the strongest attenuation efficiency at a half-maximal effective concentration of 0.1 μM and the strongest binding affinity to Pd-1 (equilibrium dissociation constant = 0.1 μM). B8.4 outperformed the known Pd-1/Pd-L1 interaction inhibitor PL120131 in disrupting Pd-1/Pd-L1 interactions, revealing that B8.4 has remarkable potential for modification to yield an antitumor agent. This study provides valuable information for the future development of peptide-based drugs, therapeutics, and immunotherapies for cancer. © 2024 American Chemical Society.

关键词： Peptides

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Structural biology - Structure of PTB bound to RNA: Specific binding and implications for splicing regulation

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Science 2005年第5743期309卷 2054-2057页

作者： Oberstrass, Florian C. Auwetor, Sigrid d. Erat, Michèle Hargous, Yann Henning, Anke Wenter, philipp Reymond, Luc Amir-Ahmady, Batoul Pitsch, Stefan Black, douglas L. Allain, Frédéric H.-T. Institute for Molecular Biology and Biophysics Department of Biology ETH-Hönggerberg CH-8093 Zürich Switzerland Department of Microbiology Immunology and Molecular Genetics Howard Hughes Medical Institute University of California Los Angeles Los Angeles CA 90095 United States Laboratory of Nucleic Acid Chemistry LCAN-EPFL Lausanne Switzerland Molecular Life Science Ph.D. Program Zürich Switzerland

The polypyrimidine tract binding protein (PTB) is a 58-kilodalton RNA binding protein involved in multiple aspects of messenger RNA metabolism, including the repression of alternative exons. We have determined the solution structures of the four RNA binding domains (RBds) of PTB, each bound to a CUCUCU oligonucleotide. Each RBd binds RNA with a different binding specificity. RBd3 and RBd4 interact, resulting in an antiparallel orientation of their bound RNAs. Thus, PTB will induce RNA looping when bound to two separated pyrimidine tracts within the same RNA. This leads to structural models for how PTB functions as an alternative-splicing repressor.

关键词： Proteins

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