المؤلفون: Yano N; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Chong PF; Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Kojima KK; Genetic Information Research Institute, Cupertino, CA, USA., Miyoshi T; Laboratory for Retrotransposon Dynamics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Department of Gene Mechanisms, Kyoto University Graduate School of Biostudies, Kyoto, Japan., Luqmen-Fatah A; Laboratory for Retrotransposon Dynamics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan., Kimura Y; Department of Energy and Hydrocarbon Chemistry, Graduate School of Engineering, Kyoto University, Kyoto, Japan., Kora K; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kayaki T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Maizuru K; Department of Pediatrics, Tenri Yorozu Hospital, Tenri, Japan., Hayashi T; Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan., Yokoyama A; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Ajiro M; Division of Cancer RNA Research, National Cancer Center Research Institute, Tokyo, Japan., Hagiwara M; Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan.; Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Kyoto, Japan., Kondo T; Department of Energy and Hydrocarbon Chemistry, Graduate School of Engineering, Kyoto University, Kyoto, Japan., Kira R; Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan., Takita J; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan., Yoshida T; Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan tayoshi@kuhp.kyoto-u.ac.jp.

المصدر: Journal of medical genetics [J Med Genet] 2024 Sep 24; Vol. 61 (10), pp. 950-958. Date of Electronic Publication: 2024 Sep 24.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Copper-Transporting ATPases*/genetics , Retroelements*/genetics , Introns*/genetics, Humans ; Male ; Adolescent ; Central Nervous System Cysts/genetics ; Central Nervous System Cysts/pathology ; Genetic Diseases, X-Linked/genetics ; Genetic Diseases, X-Linked/pathology ; Alu Elements/genetics ; Mutagenesis, Insertional/genetics ; Brain Diseases/genetics ; Brain Diseases/pathology ; RNA Splicing/genetics ; Cutis Laxa ; Ehlers-Danlos Syndrome

SCR Disease Name: Occipital horn syndrome

المؤلفون: Ochoa S; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD 20892, USA., Kumar D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Chauss D; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., van Hamburg JP; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., van Laar GG; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Oikonomou V; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Ganesan S; Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD 20892, USA., Ferré EMN; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Schmitt MM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., DiMaggio T; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Barber P; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Constantine GM; Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, MD 20892, USA., Rosen LB; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Auwaerter PG; Sherrilyn and Ken Fisher Center for Environmental Infectious Diseases, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Gandhi B; Division of Internal Medicine-Pediatrics, Department of Medicine, Medstar Georgetown University Hospital, Washington, DC 20007, USA., Miller JL; Division of Pediatric Endocrinology, Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Eisenberg R; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA., Rubinstein A; Division of Allergy and Immunology, Department of Pediatrics, Montefiore Medical Center, Bronx, NY 10467, USA.; Department of Microbiology and Immunology, Montefiore Medical Center, Bronx, NY 10467, USA., Schussler E; Division of Pulmonary, Allergy, and Immunology, Department of Pediatrics, Weill Cornell Medicine, New York, NY 10065, USA., Balliu E; Department of Endocrinology, Diabetes and Metabolism, Lakeland Regional Health Grasslands Campus, Lakeland, FL 33803, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.; Undiagnosed Diseases Network, Duke University Medical Center, Durham, NC 27710, USA., Neth O; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain., Olbrich P; Inborn Errors of Immunity Laboratory, Biomedicine Institute in Seville (IBiS), University of Seville/CSIC, 'Red de Investigación Translacional en Infectología Pediátrica,' Paediatric Infectious Diseases, Rheumatology and Immunology Unit, Virgen del Rocío University Hospital, Seville 41013, Spain.; Departamento de Farmacología, Pediatría y Radiología, Facultad de Medicina, Universidad de Sevilla, Seville 41004, Spain., Le KM; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Mamia N; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Laakso S; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; Folkhälsan Research Center, Helsinki 00250, Finland.; Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, Helsinki 00014, Finland., Nevalainen PI; JJP Biologics, Warsaw 00-728, Poland., Grönholm J; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland., Seppänen MRJ; Translational Immunology Research Program, University of Helsinki, Helsinki 00014, Finland.; Pediatric Research Center, New Children's Hospital, University of Helsinki and HUS Helsinki University Hospital, Helsinki 00290, Finland.; European Reference Network Rare Immunodeficiency Autoinflammatory and Autoimmune Diseases Network (ERN RITA) Core Center, Utrecht, 3584 CX, Netherlands., Boon L; JJP Biologics, Warsaw 00-728, Poland., Uzel G; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Franco LM; Functional Immunogenomics Unit, Systemic Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA., Heller T; Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Winer KK; Pediatric Growth and Nutrition Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA., Ghosh R; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Seifert BA; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Walkiewicz M; Centralized Sequencing Program, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20892, USA., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Zhou Q; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Askentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA., Gahl W; Medical Genetics Branch, National Human Genome Research Institute, and NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA., Dalgard CL; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.; American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA., Perera L; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC 27709, USA., Afzali B; Immunoregulation Section, Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA., Tas SW; Departments of Rheumatology and Clinical Immunology and Experimental Immunology, Amsterdam UMC, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA., Lionakis MS; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

المصدر: Science translational medicine [Sci Transl Med] 2024 Sep 18; Vol. 16 (765), pp. eadk0845. Date of Electronic Publication: 2024 Sep 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: AIRE Protein* , Exons*/genetics , Introns*/genetics , Oligonucleotides, Antisense* , Polyendocrinopathies, Autoimmune*/genetics , Transcription Factors*/genetics , Transcription Factors*/metabolism, Adolescent ; Adult ; Child ; Female ; Humans ; Male ; Base Sequence ; Cell Line ; Mutation/genetics ; Pedigree ; RNA Splicing/genetics

المؤلفون: Bolikhova AK; Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo 121205, Russia.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia., Buyan AI; Institute of Protein Research, Russian Academy of Sciences, Pushchino 142290, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia., Mariasina SS; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia.; Faculty of Fundamental Medicine, Lomonosov Moscow State University, Moscow 119991, Russia., Rudenko AY; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia., Chekh DS; Faculty of Biology, Lomonosov Moscow State University, Moscow 119991, Russia., Mazur AM; Institute of Bioengineering, Research Center of Biotechnology of the Russian Academy of Sciences, Moscow 119071, Russia., Prokhortchouk EB; Institute of Bioengineering, Research Center of Biotechnology of the Russian Academy of Sciences, Moscow 119071, Russia., Dontsova OA; Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo 121205, Russia.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Functioning of Living Systems, Shemyakin-Ovchinnikov Institute of Bioorganic Chemistry, Moscow 117997, Russia., Sergiev PV; Center of Life Sciences, Skolkovo Institute of Science and Technology, Skolkovo 121205, Russia petya@genebee.msu.ru.; A.N. Belozersky Institute of Physico-Chemical Biology, Lomonosov Moscow State University, Moscow 119991, Russia.; Department of Chemistry, Lomonosov Moscow State University, Moscow 119991, Russia.; Institute of Functional Genomics, Lomonosov Moscow State University, Moscow 119991, Russia.

المصدر: RNA (New York, N.Y.) [RNA] 2024 Sep 16; Vol. 30 (10), pp. 1356-1373. Date of Electronic Publication: 2024 Sep 16.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9509184 Publication Model: Electronic Cited Medium: Internet ISSN: 1469-9001 (Electronic) Linking ISSN: 13558382 NLM ISO Abbreviation: RNA Subsets: MEDLINE

مواضيع طبية MeSH: RNA Splicing* , RNA Splice Sites* , Introns*, Humans ; HeLa Cells ; Kinetics ; RNA, Small Nuclear/genetics ; RNA, Small Nuclear/metabolism ; Uridine/metabolism ; RNA Splicing Factors/metabolism ; RNA Splicing Factors/genetics

المؤلفون: Wang C; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.; National Animal Tuberculosis Para-Reference Laboratory (Wuhan) of Ministry of Agriculture and Rural Affairs, Huazhong Agricultural University, Wuhan, China., Jiang Y; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.; National Animal Tuberculosis Para-Reference Laboratory (Wuhan) of Ministry of Agriculture and Rural Affairs, Huazhong Agricultural University, Wuhan, China., Yang Z; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China., Xu H; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China., Khalid AK; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China., Iftakhar T; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China., Peng Y; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.; National Animal Tuberculosis Para-Reference Laboratory (Wuhan) of Ministry of Agriculture and Rural Affairs, Huazhong Agricultural University, Wuhan, China., Lu L; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.; National Animal Tuberculosis Para-Reference Laboratory (Wuhan) of Ministry of Agriculture and Rural Affairs, Huazhong Agricultural University, Wuhan, China., Zhang L; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.; National Animal Tuberculosis Para-Reference Laboratory (Wuhan) of Ministry of Agriculture and Rural Affairs, Huazhong Agricultural University, Wuhan, China., Bermudez L; Department of Biomedical Sciences, College of Veterinary Medicine, Oregon State University, Corvallis, OR, United States., Guo A; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.; National Animal Tuberculosis Para-Reference Laboratory (Wuhan) of Ministry of Agriculture and Rural Affairs, Huazhong Agricultural University, Wuhan, China.; Hubei Hongshan Laboratory, Huazhong Agricultural University, Wuhan, China., Chen Y; The National Key Laboratory of Agricultural Microbiology, College of Veterinary Medicine, Huazhong Agricultural University, Wuhan, China.; National Animal Tuberculosis Para-Reference Laboratory (Wuhan) of Ministry of Agriculture and Rural Affairs, Huazhong Agricultural University, Wuhan, China.

المصدر: Frontiers in immunology [Front Immunol] 2024 Sep 06; Vol. 15, pp. 1431207. Date of Electronic Publication: 2024 Sep 06 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Apoptotic Protease-Activating Factor 1*/genetics , Apoptotic Protease-Activating Factor 1*/metabolism , Apoptosis*/genetics , Mycobacterium bovis*/physiology , Tuberculosis, Bovine*/microbiology , Tuberculosis, Bovine*/genetics , Introns*/genetics , Epithelial Cells*/microbiology , Epithelial Cells*/metabolism, Animals ; Cattle ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism ; Alternative Splicing ; Down-Regulation ; Host-Pathogen Interactions/genetics

المؤلفون: Martino S; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., D'Addabbo P; Department of Biosciences, Biotechnologies & Environment, University of Bari 'Aldo Moro', Via Edoardo Orabona 4, 70125 Bari, Italy., Turchiano A; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Radio FC; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy., Cordeddu V; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy., Mancini C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy., Stella A; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Laforgia N; Section of Neonatology and Neonatal Intensive Care Unit, Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', 70121 Bari, Italy., Capodiferro D; Section of Neonatology and Neonatal Intensive Care Unit, Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', 70121 Bari, Italy., Simonetti S; Clinical Pathology and Neonatal Screening, Hospital 'Giovanni XXIII', University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy., Bagnulo R; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Palumbo O; Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013 Foggia, Italy., Marzano F; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Consiglio Nazionale delle Ricerche, Via Amendola 122/O, 70126 Bari, Italy., Tabaku O; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Garganese A; Medical Genetic Unit, University Hospital Consortium Corporation Polyclinics of Bari, 70124 Bari, Italy., Stasi M; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy., Pesole G; Department of Biosciences, Biotechnologies & Environment, University of Bari 'Aldo Moro', Via Edoardo Orabona 4, 70125 Bari, Italy.; Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies, Consiglio Nazionale delle Ricerche, Via Amendola 122/O, 70126 Bari, Italy., Resta N; Medical Genetics Unit, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari 'Aldo Moro', 70124 Bari, Italy.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Sep 05; Vol. 25 (17). Date of Electronic Publication: 2024 Sep 05.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Multiple Acyl Coenzyme A Dehydrogenase Deficiency*/genetics , Electron-Transferring Flavoproteins*/genetics , Oxidoreductases Acting on CH-NH Group Donors*/genetics , Iron-Sulfur Proteins*/genetics , Introns*/genetics, Humans ; Infant, Newborn ; Mutation ; Male ; Female ; Whole Genome Sequencing

المؤلفون: Wu C; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China.; Sanya Institute, Henan University, Sanya, 572025, China.; The National Engineering Lab of Crop Stress Resistance Breeding, School of Life Sciences, Anhui Agricultural University, Hefei, 230036, China., Wang X; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China., Li Y; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China., Zhen W; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China., Wang C; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China., Wang X; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China., Xie Z; State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China., Xu X; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China.; Sanya Institute, Henan University, Sanya, 572025, China., Guo S; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China.; Sanya Institute, Henan University, Sanya, 572025, China., Botella JR; Plant Genetic Engineering Laboratory, School of Agriculture and Food Sciences, The University of Queensland, Brisbane, QLD, 4072, Australia., Zheng B; State Key Laboratory of Genetic Engineering, Ministry of Education Key Laboratory of Biodiversity Sciences and Ecological Engineering, Institute of Plant Biology, School of Life Sciences, Fudan University, Shanghai, 200438, China., Wang W; State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China.; Center for Life Sciences, Beijing, 100871, China., Song CP; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China. songcp@henu.edu.cn.; Sanya Institute, Henan University, Sanya, 572025, China. songcp@henu.edu.cn., Hu Z; The Zhongzhou Laboratory for Integrative Biology, State Key Laboratory of Crop Stress Adaptation and Improvement, School of Life Sciences, Henan University, Kaifeng, 475004, China. zhubinghu@henu.edu.cn.; Sanya Institute, Henan University, Sanya, 572025, China. zhubinghu@henu.edu.cn.

المصدر: Nature communications [Nat Commun] 2024 Sep 03; Vol. 15 (1), pp. 7696. Date of Electronic Publication: 2024 Sep 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Arabidopsis*/genetics , Arabidopsis*/metabolism , Arabidopsis Proteins*/metabolism , Arabidopsis Proteins*/genetics , Heat-Shock Response*/genetics , Introns*/genetics , Gene Expression Regulation, Plant* , RNA Splicing*, Stress Granules/metabolism ; Stress Granules/genetics ; RNA, Plant/metabolism ; RNA, Plant/genetics ; Thermotolerance/genetics ; RNA, Circular/metabolism ; RNA, Circular/genetics ; Plants, Genetically Modified

المؤلفون: McGowan EC; Division of Hematology and Transfusion Medicine, Department of Laboratory Medicine, Biomedical Center C14, Lund University, Lund SE-221 84, Sweden., Storry JR; Division of Hematology and Transfusion Medicine, Department of Laboratory Medicine, Biomedical Center C14, Lund University, Lund SE-221 84, Sweden.; Department of Clinical Immunology and Transfusion Medicine, Office for Medical Services, Region Skåne, Lund SE-221 85, Sweden., Olsson ML; Division of Hematology and Transfusion Medicine, Department of Laboratory Medicine, Biomedical Center C14, Lund University, Lund SE-221 84, Sweden.; Department of Clinical Immunology and Transfusion Medicine, Office for Medical Services, Region Skåne, Lund SE-221 85, Sweden.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Sep 03; Vol. 121 (36), pp. e2412585121. Date of Electronic Publication: 2024 Aug 22.

نوع المنشور: Letter

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: 2,3-Diphosphoglycerate*/metabolism , 2,3-Diphosphoglycerate*/blood , Erythrocytes*/metabolism , Introns*/genetics, Humans ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide

المؤلفون: Earley EJ; Division of Analytics, Research Triangle Institute International, Research Triangle Park, NC 27709., D'Alessandro A; Department of Biochemistry and Molecular Genetics, University of Colorado Denver Anschutz Medical Campus, Aurora, CO 80045., Kaestner L; Theoretical Medicine and Biosciences, Saarland University, Homburg D-66421, Germany.; Dynamics of Fluids, Experimental Physics, Saarland University, Saarbrücken D-66421, Germany., Page GP; Division of Analytics, Research Triangle Institute International, Atlanta, GA 30329.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2024 Sep 03; Vol. 121 (36), pp. e2413726121. Date of Electronic Publication: 2024 Aug 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: 2,3-Diphosphoglycerate*/metabolism , Erythrocytes*/metabolism , Introns*/genetics, Humans ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide

المؤلفون: Kouniaki D; Immunology and Histocompatibility Department, Evangelismos General Hospital, Athens, Greece., Kitsiou V; Immunology and Histocompatibility Department, Evangelismos General Hospital, Athens, Greece., Tsirogianni A; Immunology and Histocompatibility Department, Evangelismos General Hospital, Athens, Greece.

المصدر: HLA [HLA] 2024 Sep; Vol. 104 (3), pp. e15705.

نوع المنشور: Journal Article; Letter

بيانات الدورية: Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101675570 Publication Model: Print Cited Medium: Internet ISSN: 2059-2310 (Electronic) Linking ISSN: 20592302 NLM ISO Abbreviation: HLA Subsets: MEDLINE

مواضيع طبية MeSH: HLA-DQ beta-Chains*/genetics , Alleles* , High-Throughput Nucleotide Sequencing* , Introns*, Humans ; Histocompatibility Testing/methods ; Exons ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA/methods ; Base Sequence

المؤلفون: Fan Y; Shandong Engineering Research Center for Environment-friendly Agricultural Pest Management, College of Plant Health and Medicine, Qingdao Agricultural University, Shandong Province Centre for Bio-invasions and Eco-security, China-Australia Cooperative Research Center for Crop Health and Biological Invasions, Qingdao 266109, PR China., Qin Y; Shandong Engineering Research Center for Environment-friendly Agricultural Pest Management, College of Plant Health and Medicine, Qingdao Agricultural University, Shandong Province Centre for Bio-invasions and Eco-security, China-Australia Cooperative Research Center for Crop Health and Biological Invasions, Qingdao 266109, PR China., Dong X; Shandong Engineering Research Center for Environment-friendly Agricultural Pest Management, College of Plant Health and Medicine, Qingdao Agricultural University, Shandong Province Centre for Bio-invasions and Eco-security, China-Australia Cooperative Research Center for Crop Health and Biological Invasions, Qingdao 266109, PR China., Wang Z; Shandong Engineering Research Center for Environment-friendly Agricultural Pest Management, College of Plant Health and Medicine, Qingdao Agricultural University, Shandong Province Centre for Bio-invasions and Eco-security, China-Australia Cooperative Research Center for Crop Health and Biological Invasions, Qingdao 266109, PR China., Zhou H; Shandong Engineering Research Center for Environment-friendly Agricultural Pest Management, College of Plant Health and Medicine, Qingdao Agricultural University, Shandong Province Centre for Bio-invasions and Eco-security, China-Australia Cooperative Research Center for Crop Health and Biological Invasions, Qingdao 266109, PR China. Electronic address: hxzhou@qau.edu.cn.

المصدر: Pesticide biochemistry and physiology [Pestic Biochem Physiol] 2024 Sep; Vol. 204, pp. 106084. Date of Electronic Publication: 2024 Aug 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Academic Press Country of Publication: United States NLM ID: 1301573 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9939 (Electronic) Linking ISSN: 00483575 NLM ISO Abbreviation: Pestic Biochem Physiol Subsets: MEDLINE

مواضيع طبية MeSH: Voltage-Gated Sodium Channels*/genetics , Voltage-Gated Sodium Channels*/metabolism , Introns* , Pyrethrins*/pharmacology , Pyrethrins*/toxicity , Insecticide Resistance*/genetics , Tephritidae*/genetics , Tephritidae*/drug effects, Animals ; Insecticides/pharmacology ; Insecticides/toxicity ; Insect Proteins/genetics ; Insect Proteins/metabolism

SCR Organism: Bactrocera dorsalis