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Wyszukujesz frazę ""Exons"" wg kryterium: Temat


Tytuł:
Fluorescent protein tagging promotes phase separation and alters the aggregation pathway of huntingtin exon-1.
Autorzy:
Pandey NK; Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Varkey J; Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Ajayan A; Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
George G; Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Chen J; Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Langen R; Physiology and Neuroscience, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA; Biochemistry and Molecular Medicine, Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA. Electronic address: .
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Źródło:
The Journal of biological chemistry [J Biol Chem] 2024 Jan; Vol. 300 (1), pp. 105585. Date of Electronic Publication: 2023 Dec 21.
Typ publikacji:
Journal Article
MeSH Terms:
Artifacts*
Exons*/genetics
Huntingtin Protein*/chemistry
Huntingtin Protein*/genetics
Huntingtin Protein*/metabolism
Huntington Disease*/genetics
Huntington Disease*/metabolism
Luminescent Measurements*/methods
Phase Separation*
Protein Aggregates*
Red Fluorescent Protein*/genetics
Red Fluorescent Protein*/metabolism
Humans ; Electron Spin Resonance Spectroscopy ; Fluorescence ; Fluorescence Recovery After Photobleaching ; Reproducibility of Results
Czasopismo naukowe
Tytuł:
Identification and quantification of small exon-containing isoforms in long-read RNA sequencing data.
Autorzy:
Liu Z; Lingang Laboratory, Shanghai, Shanghai 200031, China.; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, Shanghai 200031, China.
Zhu C; Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305, USA.
Steinmetz LM; Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305, USA.; Stanford Genome Technology Center, Stanford University, Palo Alto, CA 94304, USA.
Wei W; Lingang Laboratory, Shanghai, Shanghai 200031, China.; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, Shanghai 200031, China.; Center for Biomedical Informatics, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, Shanghai 200040, China.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2023 Nov 10; Vol. 51 (20), pp. e104.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exons*
RNA Isoforms*/genetics
Sequence Analysis, RNA*/methods
Humans ; High-Throughput Nucleotide Sequencing/methods ; Protein Isoforms/genetics ; RNA ; RNA-Seq ; Transcriptome
Czasopismo naukowe
Tytuł:
PD-L1 Exon 3 Is a Hidden Switch of Its Expression and Function in Oral Cancer Cells.
Autorzy:
Yan L; The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan 430079, China.
Sun Y; The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan 430079, China.
Guo J; The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan 430079, China.; Department of Endodontics, School & Hospital of Stomatology, Wuhan University, Wuhan 430079, China.
Jia R; The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei-MOST) & Key Laboratory of Oral Biomedicine Ministry of Education, School & Hospital of Stomatology, Wuhan University, Wuhan 430079, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 May 03; Vol. 24 (9). Date of Electronic Publication: 2023 May 03.
Typ publikacji:
Journal Article
MeSH Terms:
B7-H1 Antigen*/genetics
B7-H1 Antigen*/metabolism
Exons*/genetics
Mouth Neoplasms*/genetics
Humans ; Cell Line, Tumor ; Cell Membrane/metabolism
Czasopismo naukowe
Tytuł:
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains.
Autorzy:
Chung M; Department of Cell Biology, Emory University, Atlanta, GA, 30322, USA.; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA, 30322, USA.
Carter EK; Department of Biochemistry, Emory University, Atlanta, GA, 30322, USA.
Veire AM; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA.
Dammer EB; Department of Biochemistry, Emory University, Atlanta, GA, 30322, USA.
Chang J; Department of Cell Biology, Emory University, Atlanta, GA, 30322, USA.
Duong DM; Department of Biochemistry, Emory University, Atlanta, GA, 30322, USA.
Raj N; Department of Cell Biology, Emory University, Atlanta, GA, 30322, USA.; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA, 30322, USA.; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Bassell GJ; Department of Cell Biology, Emory University, Atlanta, GA, 30322, USA.; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA, 30322, USA.; Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, 30322, USA.
Glass JD; Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, 30322, USA.; Department of Neurology, Emory University, Atlanta, GA, 30322, USA.
Gendron TF; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA.; Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Jacksonville, FL, 32224, USA.
Nelson PT; Department of Pathology and Sanders-Brown Center On Aging, University of Kentucky, Lexington, KY, 40536, USA.
Levey AI; Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, 30322, USA. .; Department of Neurology, Emory University, Atlanta, GA, 30322, USA. .
Seyfried NT; Department of Biochemistry, Emory University, Atlanta, GA, 30322, USA. .; Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, 30322, USA. .
McEachin ZT; Department of Cell Biology, Emory University, Atlanta, GA, 30322, USA. .; Laboratory for Translational Cell Biology, Emory University, Atlanta, GA, 30322, USA. .; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA. .; Center for Neurodegenerative Diseases, Emory University, Atlanta, GA, 30322, USA. .
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Źródło:
Acta neuropathologica [Acta Neuropathol] 2024 Feb 03; Vol. 147 (1), pp. 29. Date of Electronic Publication: 2024 Feb 03.
Typ publikacji:
Journal Article
MeSH Terms:
TDP-43 Proteinopathies*/pathology
Alzheimer Disease*/genetics
Alzheimer Disease*/pathology
Dementia*
Humans ; Brain/pathology ; Aging/genetics ; Aging/pathology ; DNA-Binding Proteins/metabolism ; Exons
SCR Disease Name:
limbic-predominant age-related TDP-43 encephalopathy
Czasopismo naukowe
Tytuł:
The impact of genetically controlled splicing on exon inclusion and protein structure.
Autorzy:
Einson J; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY, United States of America.; New York Genome Center, New York, NY, United States of America.
Minaeva M; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.
Rafi F; New York Genome Center, New York, NY, United States of America.; Department of Biotechnology, The City College of New York, New York, NY, United States of America.
Lappalainen T; New York Genome Center, New York, NY, United States of America.; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Mar 13; Vol. 19 (3), pp. e0291960. Date of Electronic Publication: 2024 Mar 13 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Alternative Splicing*
Polymorphism, Single Nucleotide*
RNA Splicing/genetics ; Proteins/genetics ; Exons/genetics
Czasopismo naukowe
Tytuł:
Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.
Autorzy:
Yao M; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.; Department of Infectious Diseases, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Jiang L; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Yu Y; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Cui Y; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Chen Y; Xiamen Biofast Biotechnology Co., Ltd., Xiamen, China.
Zhou D; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gao F; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Mao S; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China. .
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Źródło:
BMC neurology [BMC Neurol] 2024 Mar 11; Vol. 24 (1), pp. 93. Date of Electronic Publication: 2024 Mar 11.
Typ publikacji:
Journal Article
MeSH Terms:
Multiplex Polymerase Chain Reaction*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Humans ; DNA Copy Number Variations/genetics ; Workflow ; Motor Neurons ; Exons/genetics ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł:
Huntingtin HTT1a is generated in a CAG repeat-length-dependent manner in human tissues.
Autorzy:
Hoschek F; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.
Natan J; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.
Wagner M; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.
Sathasivam K; Huntington's Disease Centre, Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Abdelmoez A; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.; Department of Pharmaceutical Organic Chemistry, Faculty of Pharmacy, Assiut University, Assiut, Egypt.
von Einem B; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.
Bates GP; Huntington's Disease Centre, Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
Landwehrmeyer GB; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany.
Neueder A; Department of Neurology, University Hospital Ulm, 89081, Ulm, Germany. .
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Źródło:
Molecular medicine (Cambridge, Mass.) [Mol Med] 2024 Mar 08; Vol. 30 (1), pp. 36. Date of Electronic Publication: 2024 Mar 08.
Typ publikacji:
Journal Article
MeSH Terms:
Huntingtin Protein*/genetics
Huntingtin Protein*/metabolism
Huntington Disease*/genetics
Huntington Disease*/metabolism
Trinucleotide Repeat Expansion*
Adult ; Animals ; Humans ; Mice ; Exons/genetics ; Neurons/metabolism ; RNA/metabolism
Czasopismo naukowe
Tytuł:
A transient in planta editing assay identifies specific binding of the splicing regulator PTB as a prerequisite for cassette exon inclusion.
Autorzy:
Loeser J; Institute for Molecular Physiology (imP), University of Mainz, Hanns-Dieter-Hüsch-Weg 17, 55128, Mainz, Germany.
Bauer J; Institute for Molecular Physiology (imP), University of Mainz, Hanns-Dieter-Hüsch-Weg 17, 55128, Mainz, Germany.
Janßen K; Institute for Molecular Physiology (imP), University of Mainz, Hanns-Dieter-Hüsch-Weg 17, 55128, Mainz, Germany.
Rockenbach K; Institute for Molecular Physiology (imP), University of Mainz, Hanns-Dieter-Hüsch-Weg 17, 55128, Mainz, Germany.
Wachter A; Institute for Molecular Physiology (imP), University of Mainz, Hanns-Dieter-Hüsch-Weg 17, 55128, Mainz, Germany. .
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Źródło:
Plant molecular biology [Plant Mol Biol] 2024 Mar 05; Vol. 114 (2), pp. 22. Date of Electronic Publication: 2024 Mar 05.
Typ publikacji:
Journal Article
MeSH Terms:
RNA Splicing*/genetics
Arabidopsis*/genetics
Catalytic Domain ; Exons ; RNA
Czasopismo naukowe
Tytuł:
Characterization of the novel HLA-DRB1*04:04:20 allele by sequencing-based typing.
Autorzy:
Cargou M; Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.
Elsermans V; CHU de Lille, Institut d'Immunologie-HLA, Lille, France.
Wojciechowski E; Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.
Tenchon O; Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.; Bordeaux University, CNRS, INSERM, ImmunoConcEpt, UMR 5164, ERL 1303, Bordeaux, France.
Visentin J; Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.; Bordeaux University, CNRS, INSERM, ImmunoConcEpt, UMR 5164, ERL 1303, Bordeaux, France.
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Źródło:
HLA [HLA] 2024 Mar; Vol. 103 (3), pp. e15434.
Typ publikacji:
Journal Article
MeSH Terms:
Nucleotides*
Humans ; Alleles ; Exons/genetics ; HLA-DRB1 Chains/genetics
Czasopismo naukowe
Tytuł:
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR.
Autorzy:
Song Y; 3billion, Inc., Seoul, South Korea.
Elwafa RAHA; Department of Clinical Pathology, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Omar OM; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Seo GH; 3billion, Inc., Seoul, South Korea.
Lee H; 3billion, Inc., Seoul, South Korea.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2410.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hypercholesterolemia*
Hyperlipoproteinemia Type II*/genetics
Humans ; Computational Biology ; Egypt ; Exons ; Long Interspersed Nucleotide Elements
Czasopismo naukowe
Tytuł:
A Novel Homozygous Deletion Including Exon 1 of FA2H Gene Causes Spastic Paraplegia-35: Genetic and Lipidomics Analysis of the Patients.
Autorzy:
Mo L; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Tie X; Department of Rehabilitation, Xi'an Children's Hospital, Xi'an, China.
Che F; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Zhang L; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Li B; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Wang G; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China.
Yang Y; Shaanxi Institute for Pediatric Diseases, Xi'an Children's Hospital, Xi'an, China. Electronic address: .
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Źródło:
Pediatric neurology [Pediatr Neurol] 2024 Mar; Vol. 152, pp. 200-208. Date of Electronic Publication: 2024 Jan 05.
Typ publikacji:
Journal Article
MeSH Terms:
Lipidomics*
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/diagnosis
Heredodegenerative Disorders, Nervous System*
Male ; Humans ; Child, Preschool ; Homozygote ; Leukocytes, Mononuclear/pathology ; Sequence Deletion/genetics ; Mutation ; Exons/genetics ; Pedigree ; Paraplegia
SCR Disease Name:
Fatty Acid Hydroxylase-Associated Neurodegeneration
Czasopismo naukowe
Tytuł:
The state of the art of EGFR exon 20 insertions in non-small cell lung cancer: Diagnosis and future perspectives.
Autorzy:
Dorta-Suárez M; Unit of Thoracic and CNS Tumors, Hospital Universitario HM Sanchinarro, Madrid, Spain.
de Miguel M; START-Madrid CIOCC HM Sanchinarro, Madrid, Spain.
Amor-Carro O; Medical Affairs Department, Janssen, Madrid, Spain.
Calderón JM; Medical Affairs Department, Janssen, Madrid, Spain.
González-Ortega M; Medical Affairs Department, Janssen, Madrid, Spain.
Rodríguez-Abreu D; Complejo Hospitalario Universitario Insular-Materno Infantil de Gran Canaria, Las Palmas de Gran Canaria, Spain. Electronic address: .
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Źródło:
Cancer treatment reviews [Cancer Treat Rev] 2024 Mar; Vol. 124, pp. 102671. Date of Electronic Publication: 2023 Dec 20.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Carcinoma, Non-Small-Cell Lung*/drug therapy
Carcinoma, Non-Small-Cell Lung*/genetics
Lung Neoplasms*/drug therapy
Lung Neoplasms*/genetics
Humans ; ErbB Receptors/genetics ; Mutation ; Exons/genetics ; Protein Kinase Inhibitors/therapeutic use
Czasopismo naukowe
Tytuł:
First-line immunotherapy for lung cancer with MET exon 14 skipping and the relevance of TP53 mutations.
Autorzy:
Blasi M; Department of Thoracic Oncology, Thoraxklinik, Heidelberg University Hospital and National Center for Tumor Diseases (NCT), NCT Heidelberg, A Partnership Between DKFZ and Heidelberg University Hospital, Germany; Translational Lung Research Center (TLRC) Heidelberg, member of the German Center for Lung Research (DZL), Heidelberg, Germany.
Kuon J; Department of Thoracic Oncology, Thoraxklinik, Heidelberg University Hospital and National Center for Tumor Diseases (NCT), NCT Heidelberg, A Partnership Between DKFZ and Heidelberg University Hospital, Germany; Translational Lung Research Center (TLRC) Heidelberg, member of the German Center for Lung Research (DZL), Heidelberg, Germany; Lungenklinik Loewenstein, Department of Thoracic Oncology, Loewenstein, Germany.
Lüders H; Department of Respiratory Medicine, Evangelische Lungenklinik Berlin, Berlin, Germany.
Misch D; Department of Pneumology, Helios Klinikum Emil von Behring, Berlin, Germany.
Kauffmann-Guerrero D; Department of Medicine V, University Hospital, LMU Munich, Germany; Comprehensive Pneumology Center Munich (CPC-M), member of the German Center for Lung Research (DZL), Munich, Germany.
Hilbrandt M; Department of Infectious Diseases and Respiratory Medicine, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Kazdal D; Translational Lung Research Center (TLRC) Heidelberg, member of the German Center for Lung Research (DZL), Heidelberg, Germany; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Falkenstern-Ge RF; Robert Bosch Centrum für Tumorerkrankungen (RBCT), Stuttgart, Germany.
Hackanson B; Department of Hematology/Oncology, University Medical Center Augsburg, Augsburg, Germany as part of the BZKF (Bavarian Center for Cancer Research) and Department of Medicine I, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.
Dintner S; Pathology, Medical Faculty, University of Augsburg, Augsburg, Germany, part of the Bavarian Cancer Research Center (BZKF), Augsburg, Germany.
Faehling M; Klinik für Kardiologie, Angiologie und Pneumologie, Klinikum Esslingen, Germany.
Kirchner M; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Volckmar AL; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Kopp HG; Robert Bosch Centrum für Tumorerkrankungen (RBCT), Stuttgart, Germany.
Allgäuer M; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Grohé C; Department of Respiratory Medicine, Evangelische Lungenklinik Berlin, Berlin, Germany.
Tufman A; Department of Medicine V, University Hospital, LMU Munich, Germany; Comprehensive Pneumology Center Munich (CPC-M), member of the German Center for Lung Research (DZL), Munich, Germany.
Reck M; Department of Pneumology, LungenClinic Großhansdorf, Großhansdorf, Germany; Airway Research Center North (ARCN), member of the German Center for Lung Research (DZL), Großhansdorf, Germany.
Frost N; Department of Infectious Diseases and Respiratory Medicine, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Stenzinger A; Translational Lung Research Center (TLRC) Heidelberg, member of the German Center for Lung Research (DZL), Heidelberg, Germany; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Thomas M; Department of Thoracic Oncology, Thoraxklinik, Heidelberg University Hospital and National Center for Tumor Diseases (NCT), NCT Heidelberg, A Partnership Between DKFZ and Heidelberg University Hospital, Germany; Translational Lung Research Center (TLRC) Heidelberg, member of the German Center for Lung Research (DZL), Heidelberg, Germany.
Christopoulos P; Department of Thoracic Oncology, Thoraxklinik, Heidelberg University Hospital and National Center for Tumor Diseases (NCT), NCT Heidelberg, A Partnership Between DKFZ and Heidelberg University Hospital, Germany; Translational Lung Research Center (TLRC) Heidelberg, member of the German Center for Lung Research (DZL), Heidelberg, Germany. Electronic address: .
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Źródło:
European journal of cancer (Oxford, England : 1990) [Eur J Cancer] 2024 Mar; Vol. 199, pp. 113556. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
Lung Neoplasms*/drug therapy
Lung Neoplasms*/genetics
Carcinoma, Non-Small-Cell Lung*/drug therapy
Carcinoma, Non-Small-Cell Lung*/genetics
Humans ; B7-H1 Antigen ; Immunotherapy ; Mutation ; Exons ; Tumor Suppressor Protein p53/genetics
Czasopismo naukowe
Tytuł:
Advances in the Diagnosis and Treatment of Advanced Non-Small-Cell Lung Cancer With EGFR Exon 20 Insertion Mutation.
Autorzy:
Liu J; Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Xiang Y; Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Fang T; Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Zeng L; Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Sun A; Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Lin Y; Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
Lu K; Department of Oncology, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. Electronic address: .
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Źródło:
Clinical lung cancer [Clin Lung Cancer] 2024 Mar; Vol. 25 (2), pp. 100-108. Date of Electronic Publication: 2023 Nov 23.
Typ publikacji:
Systematic Review; Journal Article; Review
MeSH Terms:
Carcinoma, Non-Small-Cell Lung*/diagnosis
Carcinoma, Non-Small-Cell Lung*/drug therapy
Carcinoma, Non-Small-Cell Lung*/genetics
Lung Neoplasms*/diagnosis
Lung Neoplasms*/drug therapy
Lung Neoplasms*/genetics
Humans ; Mutagenesis, Insertional ; Protein Kinase Inhibitors/therapeutic use ; Protein Kinase Inhibitors/pharmacology ; ErbB Receptors ; Mutation/genetics ; Exons/genetics
Czasopismo naukowe
Tytuł:
First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus.
Autorzy:
Chen X; Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan, China.; Laboratory of Endocrinology and Metabolism, Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Yun L; Institute of Forensic Medicine, West China School of Basic Science and Forensic Medicine, Sichuan University, Chengdu, Sichuan, China.
Long Y; Experimental Medicine Center, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
Sun Y; Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Chen T; Department of Endocrinology and Metabolism, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63407. Date of Electronic Publication: 2023 Nov 01.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Diabetes Insipidus, Nephrogenic*/genetics
Twins, Monozygotic*/genetics
Female ; Humans ; Exons ; Mutation, Missense ; Receptors, Vasopressin/genetics
Czasopismo naukowe
Tytuł:
Isolated cardiomyopathy in a pathogenic X-linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms.
Autorzy:
Aljaberi R; Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
Vengoechea J; Department of Human Genetics, Emory University, Atlanta, Georgia, USA.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63475. Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Cardiomyopathies*/diagnosis
Cardiomyopathies*/genetics
Muscular Dystrophy, Duchenne*/genetics
Humans ; Creatine Kinase ; Dystrophin/genetics ; Exons/genetics ; Sequence Deletion/genetics
Raport
Tytuł:
A phase 2 trial combining afatinib with cetuximab in patients with EGFR exon 20 insertion-positive non-small cell lung cancer.
Autorzy:
van Veggel BAMH; Department of Thoracic Oncology, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
van der Wekken AJ; Department of Pulmonary Diseases, University of Groningen and University Medical Center Groningen, Groningen, the Netherlands.
Paats MS; Department of Pulmonary Diseases, Erasmus University Medical Center Cancer Institute, Rotterdam, the Netherlands.
Hendriks LEL; Department of Pulmonary Diseases, Maastricht University Medical Center, Maastricht, the Netherlands.
Hashemi SMS; Department of Pulmonary Medicine, Amsterdam University Medical Centers, Vrije Universiteit Medical Center, and Cancer Center Amsterdam, Amsterdam, the Netherlands.
Daletzakis A; Department of Biometrics, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
van den Broek D; Department of Laboratory Medicine, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Bosch LJW; Department of Pathology, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Monkhorst K; Department of Pathology, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Smit EF; Department of Thoracic Oncology, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.; Department of Pulmonary Diseases, Leiden University Medical Center, Leiden, the Netherlands.
de Langen AJ; Department of Thoracic Oncology, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
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Źródło:
Cancer [Cancer] 2024 Mar 01; Vol. 130 (5), pp. 683-691. Date of Electronic Publication: 2023 Oct 31.
Typ publikacji:
Clinical Trial, Phase II; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Carcinoma, Non-Small-Cell Lung*/drug therapy
Carcinoma, Non-Small-Cell Lung*/genetics
Carcinoma, Non-Small-Cell Lung*/pathology
Lung Neoplasms*/drug therapy
Lung Neoplasms*/genetics
Lung Neoplasms*/pathology
Humans ; Female ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Male ; Afatinib/therapeutic use ; Cetuximab/adverse effects ; ErbB Receptors/genetics ; Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Exons ; Mutation ; Protein Kinase Inhibitors/adverse effects
Czasopismo naukowe
Tytuł:
Extreme thrombocytosis with an aggressive evolution harboring a novel variant of calreticulin (CALR) in exon 3.
Autorzy:
Bonnet S; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.
Carillo S; Département d'Hématologie biologique, Laboratoire de Cytologie Clinique et Cytogénétique, CHRU Nîmes, Nîmes, France.
Legrand B; IBMM, Univ Montpellier, CNRS, ENSCM, Montpellier, France.
Burroni B; Centre de Recherche des Cordeliers, Sorbonne Université, Inserm, UMRS 1138, Université de Paris Cité, Paris, France.; Department of Pathology Assistance Publique-Hôpitaux de Paris (APHP), Hôpital Cochin, Paris, France.
Lavabre-Bertrand T; Département d'Hématologie biologique, Laboratoire de Cytologie Clinique et Cytogénétique, CHRU Nîmes, Nîmes, France.
Requirand G; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.; Pôle de biologie, Centre Hospitalier Universitaire, Montpellier, France.
Robert N; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.; Pôle de biologie, Centre Hospitalier Universitaire, Montpellier, France.
Fornero L; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.
Al Mansoori A; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.
Moreaux J; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.; Pôle de biologie, Centre Hospitalier Universitaire, Montpellier, France.
Cartron G; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.
Gabellier L; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.; Institut de Génétique Moléculaire de Montpellier, CNRS-UMR5535, Montpellier, France.
Herbaux C; Département d'Hématologie Clinique, CHRU Montpellier, Montpellier, France.; Institut de Génétique Humaine, UMR 9002 CNRS-UM, Montpellier, France.
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Źródło:
European journal of haematology [Eur J Haematol] 2024 Mar; Vol. 112 (3), pp. 475-478. Date of Electronic Publication: 2023 Nov 02.
Typ publikacji:
Case Reports
MeSH Terms:
Thrombocytosis*/diagnosis
Primary Myelofibrosis*/genetics
Myelodysplastic-Myeloproliferative Diseases*/complications
Myeloproliferative Disorders*/genetics
Humans ; Calreticulin/genetics ; Calreticulin/metabolism ; Mutation ; Exons ; Janus Kinase 2/genetics
Raport
Tytuł:
Functional analysis of the CTNS gene exonic variants predicted to affect splicing.
Autorzy:
Li C; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Zhang R; Department of Emergency, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Pan F; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Xin Q; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Shi X; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Guo W; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Qiao D; Department of Nephrology, Dalian Medical University, Dalian, China.
Wang Z; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Zhang Y; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Liu X; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
Zhang Y; Department of Nephrology, Weifang Medical University, Weifang, China.
Shao L; Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, Qingdao, China.
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Źródło:
Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 323-328. Date of Electronic Publication: 2023 Nov 27.
Typ publikacji:
Journal Article
MeSH Terms:
Cystinosis*/genetics
Amino Acid Transport Systems, Neutral*/genetics
Humans ; RNA Splicing/genetics ; Exons/genetics ; Regulatory Sequences, Nucleic Acid ; RNA ; Alternative Splicing ; RNA Splice Sites
Czasopismo naukowe
Tytuł:
Functional and phenotypic consequences of an unusual inversion in MSH2.
Autorzy:
Pelletier D; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada.; Faculty of Medicine, Université de Montréal, Montréal, QC, Canada.
Rath A; Center for Molecular Oncology, UConn Health, Farmington, CT, USA.
Sabbaghian N; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada.; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada.
Pelmus M; Department of Pathology, Medicine, McGill University, Montreal, QC, Canada.
Hudon C; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada.; Division of Medical Genetics, Dept of Specialized Medicine, Jewish General Hospital, Montreal, QC, Canada.
Jacob K; Service de Médecine Génique, Centre Hospitalier de l'Université de Montréal, Montréal, QC, Canada.
Witowski L; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada.
Saskin A; Service de Médecine Génique, Centre Hospitalier de l'Université de Montréal, Montréal, QC, Canada.
Heinen CD; Center for Molecular Oncology, UConn Health, Farmington, CT, USA. .
Foulkes WD; Department of Human Genetics, Medicine, McGill University, Montreal, QC, Canada. .; Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada. .; Division of Medical Genetics, Dept of Specialized Medicine, Jewish General Hospital, Montreal, QC, Canada. .; Cancer Research Program, Research Institute of the McGill University Health Center, Montreal, QC, Canada. .
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Źródło:
Familial cancer [Fam Cancer] 2024 Mar; Vol. 23 (1), pp. 1-7. Date of Electronic Publication: 2023 Nov 14.
Typ publikacji:
Letter
MeSH Terms:
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Adenocarcinoma*/genetics
Humans ; Adult ; MutS Homolog 2 Protein/genetics ; MutS Homolog 2 Protein/metabolism ; Germ-Line Mutation ; Exons ; DNA Mismatch Repair/genetics ; MutL Protein Homolog 1/genetics ; Mismatch Repair Endonuclease PMS2/genetics ; Mismatch Repair Endonuclease PMS2/metabolism
Opinia redakcyjna

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