المؤلفون: Zeng Z; Department of Critical Care Medicine, Medical Center of Anesthesiology and Pain, the First Affiliation Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China., Abdelwahid E; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States., Chen W; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States., Ascoli C; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States., Pham T; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States., Jacobson JR; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States., Dudek SM; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States., Natarajan V; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States., Aldaz CM; MD Anderson Cancer Center, University of Texas, Houston, Texas, United States., Machado RF; Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Indiana University, Indianapolis, Indiana, United States., Singla S; Division of Pulmonary, Critical Care, Sleep and Allergy Medicine, University of Illinois at Chicago, Chicago, Illinois, United States.

المصدر: American journal of physiology. Lung cellular and molecular physiology [Am J Physiol Lung Cell Mol Physiol] 2024 Jun 01; Vol. 326 (6), pp. L687-L697. Date of Electronic Publication: 2024 Apr 02.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: American Physiological Society Country of Publication: United States NLM ID: 100901229 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1522-1504 (Electronic) Linking ISSN: 10400605 NLM ISO Abbreviation: Am J Physiol Lung Cell Mol Physiol Subsets: MEDLINE

مواضيع طبية MeSH: WW Domain-Containing Oxidoreductase*/metabolism , WW Domain-Containing Oxidoreductase*/genetics , Mice, Knockout* , Endothelial Cells*/metabolism , Endothelial Cells*/pathology , Inflammation*/metabolism , Inflammation*/pathology , Ventilator-Induced Lung Injury*/metabolism , Ventilator-Induced Lung Injury*/pathology , Ventilator-Induced Lung Injury*/genetics, Animals ; Mice ; Cytokines/metabolism ; Mice, Inbred C57BL ; Gene Knockdown Techniques ; Male ; Lung/metabolism ; Lung/pathology ; Tumor Suppressor Proteins/metabolism ; Tumor Suppressor Proteins/genetics

المؤلفون: Wang T; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China., Cheng MM; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China., Liu WW; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China., Tan QZ; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China., Liu CH; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China., Yang Y; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China., Yang XL; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China., Zhang YH; Neurological Department of Children's Medical Center, Peking University First Hospital, Beijing 100176, China.

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2024 Aug 02; Vol. 62 (8), pp. 752-757.

نوع المنشور: English Abstract; Journal Article

بيانات الدورية: Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310 (Print) Linking ISSN: 05781310 NLM ISO Abbreviation: Zhonghua Er Ke Za Zhi Subsets: MEDLINE

مواضيع طبية MeSH: WW Domain-Containing Oxidoreductase*/genetics , Phenotype* , Genotype* , Electroencephalography* , Mutation*, Humans ; Male ; Female ; Infant ; Spasms, Infantile/genetics ; Epilepsy/genetics ; Epilepsy/diagnosis ; Infant, Newborn ; Magnetic Resonance Imaging ; Seizures/genetics ; Microcephaly/genetics ; Developmental Disabilities/genetics ; Child, Preschool ; Tumor Suppressor Proteins/genetics

المؤلفون: You Y; Department of Imaging, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China., Wu W; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China., Du Y; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China., Hu J; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China., Li B; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China.; Key Laboratory of Pediatric Epilepsy and Neurological Disorders of Hebei Province, Shijiazhuang, P.R. China.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2500.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: WW Domain-Containing Oxidoreductase*/genetics , Homozygote* , Spasms, Infantile*/genetics , Spasms, Infantile*/pathology , Phenotype*, Humans ; Female ; Infant ; Anticonvulsants/therapeutic use ; Mutation ; Vigabatrin/therapeutic use ; Tumor Suppressor Proteins

المؤلفون: Nishino M; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Tanaka M; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Imagawa K; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan., Yaita K; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Enokizono T; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan., Ohto T; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan., Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Yamada M; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Shinjuku City, Tokyo, Japan., Takada H; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Ibaraki, Japan.; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63575. Date of Electronic Publication: 2024 Feb 26.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: WW Domain-Containing Oxidoreductase*/genetics , Spasms, Infantile*/genetics , Spasms, Infantile*/drug therapy , Spasms, Infantile*/pathology , Uniparental Disomy*/genetics , Uniparental Disomy*/pathology , RNA Splice Sites*/genetics , Mutation*/genetics, Humans ; Female ; Infant ; Phenotype ; Exome Sequencing ; Electroencephalography ; Tumor Suppressor Proteins

SCR Disease Name: Infantile Epileptic-Dyskinetic Encephalopathy

المؤلفون: Martínez-Lumbreras S; Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Munich, Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany. santiago.martinez@tum.de.; TUM School of Natural Sciences, Department of Bioscience and Bavarian NMR Center, Technical University of Munich, Lichtenbergstrasse 4, 85748, Garching, Germany. santiago.martinez@tum.de., Träger LK; TUM School of Natural Sciences, Department of Bioscience and Bavarian NMR Center, Technical University of Munich, Lichtenbergstrasse 4, 85748, Garching, Germany., Mulorz MM; Institute of Molecular Biology (IMB) gGmbH, Ackermannweg 4, 55128, Mainz, Germany., Payr M; TUM School of Natural Sciences, Department of Bioscience and Bavarian NMR Center, Technical University of Munich, Lichtenbergstrasse 4, 85748, Garching, Germany., Dikaya V; TUM School of Natural Sciences, Department of Bioscience and Bavarian NMR Center, Technical University of Munich, Lichtenbergstrasse 4, 85748, Garching, Germany., Hipp C; Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Munich, Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany.; TUM School of Natural Sciences, Department of Bioscience and Bavarian NMR Center, Technical University of Munich, Lichtenbergstrasse 4, 85748, Garching, Germany., König J; Institute of Molecular Biology (IMB) gGmbH, Ackermannweg 4, 55128, Mainz, Germany., Sattler M; Institute of Structural Biology, Molecular Targets and Therapeutics Center, Helmholtz Munich, Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany. michael.sattler@helmholtz-munich.de.; TUM School of Natural Sciences, Department of Bioscience and Bavarian NMR Center, Technical University of Munich, Lichtenbergstrasse 4, 85748, Garching, Germany. michael.sattler@helmholtz-munich.de.

المصدر: Nature communications [Nat Commun] 2024 May 08; Vol. 15 (1), pp. 3888. Date of Electronic Publication: 2024 May 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

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: Proline*/metabolism , Proline*/chemistry , Protein Binding* , WW Domains*, Humans ; Amino Acid Motifs ; Models, Molecular ; RNA Splicing ; RNA Splicing Factors/metabolism ; RNA Splicing Factors/chemistry ; RNA Splicing Factors/genetics ; Scattering, Small Angle ; Spliceosomes/metabolism ; X-Ray Diffraction

المؤلفون: Akkawi R; The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research, IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Hidmi O; The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research, IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Haj-Yahia A; The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research, IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Monin J; The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research, IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Diment J; Department of Pathology, Hadassah University Medical Center, Jerusalem, Israel., Drier Y; The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research, IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Stein GS; Department of Biochemistry, Larner College of Medicine, UVM Cancer Center, University of Vermont, Burlington, VT, USA., Aqeilan RI; The Concern Foundation Laboratories, The Lautenberg Center for Immunology and Cancer Research, Department of Immunology and Cancer Research, IMRIC, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel. ramiaq@mail.huji.ac.il.; Cyprus Cancer Research Institute (CCRI), Nicosia, Cyprus. ramiaq@mail.huji.ac.il.

المصدر: Cell death & disease [Cell Death Dis] 2024 Jan 05; Vol. 15 (1), pp. 13. Date of Electronic Publication: 2024 Jan 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101524092 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-4889 (Electronic) NLM ISO Abbreviation: Cell Death Dis Subsets: MEDLINE

مواضيع طبية MeSH: Bone Neoplasms*/genetics , Osteosarcoma*/genetics , WW Domain-Containing Oxidoreductase*/genetics , WW Domain-Containing Oxidoreductase*/metabolism , Proto-Oncogene Proteins c-myc*/genetics , Proto-Oncogene Proteins c-myc*/metabolism, Animals ; Humans ; Mice ; Tumor Suppressor Proteins/genetics ; Up-Regulation/genetics

المؤلفون: Lim LZ; Department of Biological Sciences, Faculty of Science, National University of Singapore, 10 Kent Ridge Crescent, Singapore 119260, Singapore., Song J; Department of Biological Sciences, Faculty of Science, National University of Singapore, 10 Kent Ridge Crescent, Singapore 119260, Singapore.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 04; Vol. 25 (13). Date of Electronic Publication: 2024 Jul 04.

نوع المنشور: 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: Protein Stability*, Magnetic Resonance Spectroscopy/methods ; Thermodynamics ; Protein Folding ; Protein Denaturation ; WW Domains ; Nuclear Magnetic Resonance, Biomolecular ; Protein Domains ; Molecular Dynamics Simulation

المؤلفون: Bernardes NE; Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX, USA., Chook YM; Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas, TX, USA.

المصدر: The Journal of cell biology [J Cell Biol] 2024 Jun 03; Vol. 223 (6). Date of Electronic Publication: 2024 May 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Comment

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

مواضيع طبية MeSH: Nuclear Localization Signals*/metabolism, Humans ; WW Domains/genetics ; alpha Karyopherins/metabolism ; alpha Karyopherins/genetics ; alpha Karyopherins/chemistry ; Protein Binding ; Adaptor Proteins, Signal Transducing/metabolism ; Adaptor Proteins, Signal Transducing/chemistry ; Adaptor Proteins, Signal Transducing/genetics ; Transcription Factors/metabolism ; Transcription Factors/genetics ; Transcription Factors/chemistry ; YAP-Signaling Proteins/metabolism

المؤلفون: Yang Y; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Wu M; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Pan Y; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Hua Y; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., He X; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Li X; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Wang J; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China., Gan X; Department of Biochemistry and Molecular Biology, Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, School of Basic Medical Sciences, Fudan University, Shanghai, PR China.

المصدر: The Journal of cell biology [J Cell Biol] 2024 Jun 03; Vol. 223 (6). Date of Electronic Publication: 2024 Mar 15.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 0375356 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8140 (Electronic) Linking ISSN: 00219525 NLM ISO Abbreviation: J Cell Biol Subsets: MEDLINE

مواضيع طبية MeSH: Cell Nucleus*/metabolism , Nuclear Localization Signals*/genetics , Nuclear Localization Signals*/metabolism , YAP-Signaling Proteins*/chemistry , YAP-Signaling Proteins*/metabolism, Humans ; Active Transport, Cell Nucleus ; Proteins/metabolism ; WW Domains ; alpha Karyopherins/metabolism ; beta Karyopherins/metabolism

المؤلفون: Chen YA; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan., Liu TY; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan., Wen KY; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan., Hsu CY; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan., Sze CI; Department of Cell Biology and Anatomy, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan., Chang NS; Institute of Molecular Medicine, College of Medicine, National Cheng Kung University, Tainan 70101, Taiwan.; Graduate Institute of Biomedical Sciences, College of Medicine, China Medical University, Taichung 40402, Taiwan.; Department of Neurochemistry, New York State Institute for Basic Research in Developmental Disabilities, New York, NY 10314, USA.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Mar 20; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 20.

نوع المنشور: Journal Article; Review

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: Amyloid beta-Peptides* , Neoplasms*/metabolism, Mice ; Animals ; WW Domain-Containing Oxidoreductase/genetics ; WW Domain-Containing Oxidoreductase/metabolism ; Apoptosis ; Signal Transduction/physiology