Temat: "Exons" - OpacWWW - Prolib Integro

Skocz do pozycji: 1 1.

Tytuł :: Capmatinib for patients with non-small cell lung cancer with MET exon 14 skipping mutations: A review of preclinical and clinical studies.
Autorzy :: Wu YL; Guangdong Provincial Key Laboratory of Translational Medicine in Lung Cancer, Guangdong Lung Cancer Institute, Guangdong Provincial People's Hospital and Guangdong Academy of Medical Sciences, 106 Zhongshan Er Rd, Guangzhou 510080, Guangdong, People's Republic of China. Electronic address: .
Smit EF; Department of Thoracic Oncology, Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Plesmanlaan 121, 1066 CX Amsterdam, Netherlands.
Bauer TM; Sarah Cannon Research Institute / Tennessee Oncology, PLLC., 250 25th Avenue, Nashville, TN 37203, USA.; Pokaż więcej
Źródło :: Cancer treatment reviews [Cancer Treat Rev] 2021 Apr; Vol. 95, pp. 102173. Date of Electronic Publication: 2021 Mar 01.
Typ publikacji :: Journal Article; Review
MeSH Terms :: Exons*
Mutation*
Carcinoma, Non-Small-Cell Lung/*drug therapy
Imidazoles/*therapeutic use
Protein Kinase Inhibitors/*therapeutic use
Proto-Oncogene Proteins c-met/*antagonists & inhibitors
Proto-Oncogene Proteins c-met/*genetics
Triazines/*therapeutic use
Animals ; Carcinoma, Non-Small-Cell Lung/genetics ; Carcinoma, Non-Small-Cell Lung/pathology ; Clinical Trials as Topic ; Drug Evaluation, Preclinical ; Humans ; Lung Neoplasms/drug therapy ; Lung Neoplasms/genetics ; Lung Neoplasms/pathology
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: Intron exon boundary junctions in human genome have in-built unique structural and energetic signals.
Autorzy :: Mishra A; Supercomputing Facility for Bioinformatics & Computational Biology, Indian Institute of Technology Delhi, India.; Kusuma School of Biological Sciences, Indian Institute of Technology, Delhi, India.
Siwach P; Supercomputing Facility for Bioinformatics & Computational Biology, Indian Institute of Technology Delhi, India.; Department of Biotechnology, Chaudhary Devi Lal University, Sirsa, Haryana, India.
Misra P; Supercomputing Facility for Bioinformatics & Computational Biology, Indian Institute of Technology Delhi, India.
Dhiman S; Supercomputing Facility for Bioinformatics & Computational Biology, Indian Institute of Technology Delhi, India.
Pandey AK; Kusuma School of Biological Sciences, Indian Institute of Technology, Delhi, India.
Srivastava P; Supercomputing Facility for Bioinformatics & Computational Biology, Indian Institute of Technology Delhi, India.
Jayaram B; Supercomputing Facility for Bioinformatics & Computational Biology, Indian Institute of Technology Delhi, India.; Kusuma School of Biological Sciences, Indian Institute of Technology, Delhi, India.; Department of Chemistry, Indian Institute of Technology, Delhi, India.; Pokaż więcej
Źródło :: Nucleic acids research [Nucleic Acids Res] 2021 Mar 18; Vol. 49 (5), pp. 2674-2683.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Exons*
Genome, Human*
Introns*
Genes, Essential ; Genomics ; Humans ; RNA Splice Sites
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: psiCLIP reveals dynamic RNA binding by DEAH-box helicases before and after exon ligation.
Autorzy :: Strittmatter LM; MRC Laboratory of Molecular Biology, Cambridge, UK.
Capitanchik C; The Francis Crick Institute, London, UK.
Newman AJ; MRC Laboratory of Molecular Biology, Cambridge, UK.
Hallegger M; The Francis Crick Institute, London, UK.; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
Norman CM; MRC Laboratory of Molecular Biology, Cambridge, UK.
Fica SM; MRC Laboratory of Molecular Biology, Cambridge, UK.
Oubridge C; MRC Laboratory of Molecular Biology, Cambridge, UK.
Luscombe NM; The Francis Crick Institute, London, UK.; UCL Genetics Institute, Department of Genetics, Environment and Evolution, University College London, London, UK.; Okinawa Institute of Science & Technology Graduate University, Okinawa, Japan.
Ule J; The Francis Crick Institute, London, UK. .; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK. .
Nagai K; MRC Laboratory of Molecular Biology, Cambridge, UK.; Pokaż więcej
Źródło :: Nature communications [Nat Commun] 2021 Mar 05; Vol. 12 (1), pp. 1488. Date of Electronic Publication: 2021 Mar 05.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Exons*
RNA Splicing*
RNA Helicases/*chemistry
RNA Helicases/*metabolism
RNA Precursors/*metabolism
Saccharomyces cerevisiae Proteins/*metabolism
Spliceosomes/*metabolism
Adenosine Triphosphatases/chemistry ; Adenosine Triphosphatases/genetics ; Adenosine Triphosphatases/metabolism ; Autoantigens/chemistry ; Autoantigens/metabolism ; Cryoelectron Microscopy ; DEAD-box RNA Helicases/chemistry ; DEAD-box RNA Helicases/metabolism ; Models, Molecular ; RNA Precursors/chemistry ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; RNA, Fungal/metabolism ; Recombinant Proteins ; Ribonucleoprotein, U5 Small Nuclear/chemistry ; Ribonucleoprotein, U5 Small Nuclear/genetics ; Ribonucleoprotein, U5 Small Nuclear/metabolism ; Ribonucleoproteins, Small Nuclear/chemistry ; Ribonucleoproteins, Small Nuclear/metabolism ; Saccharomyces cerevisiae Proteins/chemistry ; Saccharomyces cerevisiae Proteins/genetics ; Spliceosomes/chemistry
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: Long-term follow-up of JAK2 exon 12 polycythemia vera: a French Intergroup of Myeloproliferative Neoplasms (FIM) study.
Autorzy :: Tondeur S; CHU Grenoble, Laboratoire de Génétique des hémopathies, Institut de Biologie et Pathologie, Grenoble, France.; CNRS UMR 5309, INSERM, U1209, Université Grenoble Alpes, Institute for Advanced Bioscience, Grenoble, France.
Paul F; CHU Montpellier, Service d'Hématologie clinique, Montpellier, France.
Riou J; Université d'Angers, INSERM 1066 MINT, Angers, France.
Mansier O; CHU de Bordeaux, Laboratoire d'Hématologie et Université de Bordeaux, Inserm U1034, Bordeaux, France.
Ranta D; CHU Nancy, Hématologie clinique, Nancy, France.
Le Clech L; CH Quimper, Hématologie Clinique, Quimper, France.
Lippert E; CHRU Brest, Laboratoire d'Hématologie, Brest, France.; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France.; Université Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Tavitian S; CHU Toulouse, Service d'Hématologie, Toulouse Oncopole, Toulouse, France.
Chaoui D; CH Argenteuil, Service d'Hématologie, Argenteuil, France.
Mercier M; CH Vannes, Hématologie clinique, Vannes, France.
De Renzis B; CHU Clermont-Ferrand, Hématologie clinique, Clermont-Ferrand, France.
Cottin L; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France.; CHU Angers, Laboratoire d'hématologie, Angers, France.; Université d'Angers, UFR Santé, Angers, France.; Université d'Angers, Inserm, CRCINA, F-49000, Angers, France.
Cassinat B; APHP, Hôpital Saint Louis, Laboratoire de Biologie Cellulaire, Paris, France.
Chrétien JM; CHU Angers, DRCI Cellule de Gestion des Données et Evaluation, Angers, France.
Ianotto JC; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France.; CHRU Brest, Service d'hématologie clinique, Brest, France.
Allangba O; CH Saint-Brieuc, Hématologie Clinique, Brest, France.
Marzac C; Gustave Roussy, Département de Biologie et Pathologie médicales, Brest, France.
Voillat L; Centre Hospitalier William Morey, Chalon-sur-Saône, France.
Boyer F; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France.; CHU Angers, Service des maladies du sang, Angers, France.
Orvain C; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France.; CHU Angers, Service des maladies du sang, Angers, France.
Hunault-Berger M; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France.; Université d'Angers, UFR Santé, Angers, France.; Université d'Angers, Inserm, CRCINA, F-49000, Angers, France.; CHU Angers, Service des maladies du sang, Angers, France.
Girodon F; CHU Dijon, Service d'Hématologie Biologique, Dijon, France.
Kiladjian JJ; APHP, Hôpital Saint Louis, INSERM UMRS 1131, Institut Universitaire d'Hématologie, Paris, France.
Ugo V; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France.; CHU Angers, Laboratoire d'hématologie, Angers, France.; Université d'Angers, UFR Santé, Angers, France.; Université d'Angers, Inserm, CRCINA, F-49000, Angers, France.
Luque Paz D; Fédération Hospitalo-Universitaire 'Grand Ouest Against Leukemia' (FHU GOAL), Brest, France. .; CHU Angers, Laboratoire d'hématologie, Angers, France. .; Université d'Angers, UFR Santé, Angers, France. .; Université d'Angers, Inserm, CRCINA, F-49000, Angers, France. .; Pokaż więcej
Źródło :: Leukemia [Leukemia] 2021 Mar; Vol. 35 (3), pp. 871-875. Date of Electronic Publication: 2020 Jul 21.
Typ publikacji :: Letter; Research Support, Non-U.S. Gov't
MeSH Terms :: Exons*
Mutation*
Biomarkers, Tumor/*genetics
Janus Kinase 2/*genetics
Myeloproliferative Disorders/*pathology
Polycythemia Vera/*pathology
Adult ; Aged ; Cohort Studies ; Female ; Follow-Up Studies ; France ; Humans ; Male ; Middle Aged ; Myeloproliferative Disorders/genetics ; Polycythemia Vera/genetics ; Prognosis ; Survival Rate
: Raport

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: DIGGER: exploring the functional role of alternative splicing in protein interactions.
Autorzy :: Louadi Z; Chair of Experimental Bioinformatics, TUM School of Life Sciences Weihenstephan, Technical University of Munich, 85354 Freising, Germany.
Yuan K; Chair of Experimental Bioinformatics, TUM School of Life Sciences Weihenstephan, Technical University of Munich, 85354 Freising, Germany.
Gress A; Helmholtz Institute for Pharmaceutical Research Saarland (HIPS), Helmholtz Centre for Infection Research (HZI), 66123 Saarbrücken, Germany.
Tsoy O; Chair of Experimental Bioinformatics, TUM School of Life Sciences Weihenstephan, Technical University of Munich, 85354 Freising, Germany.
Kalinina OV; Helmholtz Institute for Pharmaceutical Research Saarland (HIPS), Helmholtz Centre for Infection Research (HZI), 66123 Saarbrücken, Germany.; Faculty of Medicine, Saarland University, 66421 Homburg, Germany.
Baumbach J; Chair of Experimental Bioinformatics, TUM School of Life Sciences Weihenstephan, Technical University of Munich, 85354 Freising, Germany.; Department of Mathematics and Computer Science, University of Southern Denmark, 5230 Odense M, Denmark.
Kacprowski T; Chair of Experimental Bioinformatics, TUM School of Life Sciences Weihenstephan, Technical University of Munich, 85354 Freising, Germany.
List M; Chair of Experimental Bioinformatics, TUM School of Life Sciences Weihenstephan, Technical University of Munich, 85354 Freising, Germany.; Pokaż więcej
Źródło :: Nucleic acids research [Nucleic Acids Res] 2021 Jan 08; Vol. 49 (D1), pp. D309-D318.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Alternative Splicing*
Databases, Protein*
Exons*
Protein Interaction Mapping/*methods
Proteome/*chemistry
RNA, Messenger/*genetics
Binding Sites ; Computational Biology/methods ; Humans ; Internet ; Models, Molecular ; Protein Binding ; Protein Biosynthesis ; Protein Conformation, alpha-Helical ; Protein Conformation, beta-Strand ; Protein Interaction Domains and Motifs ; Protein Isoforms ; Proteome/genetics ; Proteome/metabolism ; RNA, Messenger/metabolism ; Software ; Thermodynamics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: Distant coupling between RNA editing and alternative splicing of the osmosensitive cation channel Tmem63b.
Autorzy :: Wu D; Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School, Nanjing University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China.
Zang YY; Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School, Nanjing University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China.
Shi YY; Department of Orthopaedics, Luhe People's Hospital Affiliated to Yangzhou University, Nanjing, China.
Ye C; Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School, Nanjing University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China.
Cai WM; Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School, Nanjing University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China.
Tang XH; Department of Anesthesiology and Perioperative Medicine, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; School of Medicine, Southeast University, Nanjing, China.
Zhao L; Translational Science and Clinical Biomarker, BeiGene (Shanghai) Co., Ltd., Shanghai, China.
Liu Y; Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, Institute for Advanced Studies, Wuhan University, Wuhan, China.
Gan Z; Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School, Nanjing University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China.
Chen GQ; Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School, Nanjing University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China; Institute for Brain Sciences, Nanjing University, Nanjing, China.
Xu Y; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China; Institute for Brain Sciences, Nanjing University, Nanjing, China.
Yang JJ; Department of Anesthesiology and Perioperative Medicine, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China. Electronic address: .
Shi YS; Ministry of Education Key Laboratory of Model Animal for Disease Study, Model Animal Research Center, Medical School, Nanjing University, Nanjing, China; State Key Laboratory of Pharmaceutical Biotechnology, Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing University, Nanjing, China; Institute for Brain Sciences, Nanjing University, Nanjing, China; Chemistry and Biomedicine Innovation Center, Nanjing University, Nanjing, China. Electronic address: .; Pokaż więcej
Źródło :: The Journal of biological chemistry [J Biol Chem] 2020 Dec 25; Vol. 295 (52), pp. 18199-18212. Date of Electronic Publication: 2020 Oct 25.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Alternative Splicing*
Exons*
RNA Editing*
Adenosine Deaminase/*physiology
Brain/*metabolism
Calcium Channels/*genetics
RNA Precursors/*genetics
RNA-Binding Proteins/*physiology
Animals ; Calcium Channels/metabolism ; Female ; HEK293 Cells ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Knockout
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 7 7.

Tytuł :: A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population.
Autorzy :: Seo JY; Current address: Department of Core Technology, R&D Center, LG Household & Healthcare (LG H&H), Seoul, 07795, South Korea.; Department of Life Science, Sogang University, Seoul, 04107, Republic of Korea.
Shin JG; Current address: Department of Core Technology, R&D Center, LG Household & Healthcare (LG H&H), Seoul, 07795, South Korea.; Research Institute for Basic Science, Sogang University, Seoul, 04107, Republic of Korea.
Youn BJ; Department of Life Science, Sogang University, Seoul, 04107, Republic of Korea.
Namgoong S; Department of Life Science, Sogang University, Seoul, 04107, Republic of Korea.; Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, 04107, Republic of Korea.
Cheong HS; Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, 04107, Republic of Korea.
Kim LH; Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, 04107, Republic of Korea.
Kim JO; Research Institute for Basic Science, Sogang University, Seoul, 04107, Republic of Korea.
Shin HD; Department of Life Science, Sogang University, Seoul, 04107, Republic of Korea. .; Research Institute for Basic Science, Sogang University, Seoul, 04107, Republic of Korea. .; Department of Genetic Epidemiology, SNP Genetics Inc., Seoul, 04107, Republic of Korea. .
Kim YJ; Department of Internal Medicine and Liver Research Institute, Seoul National University, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. .; Pokaż więcej
Źródło :: BMC medical genetics [BMC Med Genet] 2020 Dec 17; Vol. 21 (1), pp. 241. Date of Electronic Publication: 2020 Dec 17.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Exons*
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Complement Factor B/*genetics
Hepatitis B, Chronic/*genetics
Adult ; Case-Control Studies ; Complement Factor B/deficiency ; Complement Factor B/immunology ; Gene Expression ; Hepatitis B, Chronic/diagnosis ; Hepatitis B, Chronic/immunology ; Hepatitis B, Chronic/pathology ; Humans ; Linkage Disequilibrium ; Male ; Middle Aged ; Odds Ratio ; Republic of Korea ; Risk
: Czasopismo naukowe

Szczegóły Pełny tekst

Skocz do pozycji: 8 8.

Tytuł :: Design and application of circular RNAs with protein-sponge function.
Autorzy :: Schreiner S; Institute of Biochemistry, Justus Liebig University of Giessen, 35392 Giessen, Germany.
Didio A; Institute of Biochemistry, Justus Liebig University of Giessen, 35392 Giessen, Germany.
Hung LH; Institute of Biochemistry, Justus Liebig University of Giessen, 35392 Giessen, Germany.
Bindereif A; Institute of Biochemistry, Justus Liebig University of Giessen, 35392 Giessen, Germany.; Pokaż więcej
Źródło :: Nucleic acids research [Nucleic Acids Res] 2020 Dec 02; Vol. 48 (21), pp. 12326-12335.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Alternative Splicing*
Exons*
Genetic Engineering/*methods
Heterogeneous-Nuclear Ribonucleoprotein L/*genetics
RNA Precursors/*genetics
RNA, Circular/*genetics
Base Pairing ; Gene Silencing ; HEK293 Cells ; HeLa Cells ; Heterogeneous-Nuclear Ribonucleoprotein L/antagonists & inhibitors ; Heterogeneous-Nuclear Ribonucleoprotein L/metabolism ; Humans ; Immunoprecipitation/methods ; Introns ; Nucleic Acid Conformation ; Nucleotide Motifs ; Plasmids/chemistry ; Plasmids/metabolism ; Protein Binding ; RNA Precursors/metabolism ; RNA, Catalytic/genetics ; RNA, Catalytic/metabolism ; RNA, Circular/biosynthesis ; RNA, Circular/chemistry
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 9 9.

Tytuł :: Pitfalls in CALR exon 9 mutation detection: A single-center experience in 571 positive patients.
Autorzy :: Verger E; Laboratoire de Biologie Cellulaire, AP-HP, Hopital Saint-Louis, Paris, France.; Université de Paris, U1131 INSERM, IRSL, Paris, France.
Maslah N; Laboratoire de Biologie Cellulaire, AP-HP, Hopital Saint-Louis, Paris, France.; Université de Paris, U1131 INSERM, IRSL, Paris, France.
Schlageter MH; Laboratoire de Biologie Cellulaire, AP-HP, Hopital Saint-Louis, Paris, France.; Université de Paris, U1131 INSERM, IRSL, Paris, France.
Chomienne C; Laboratoire de Biologie Cellulaire, AP-HP, Hopital Saint-Louis, Paris, France.; Université de Paris, U1131 INSERM, IRSL, Paris, France.
Kiladjian JJ; Université de Paris, U1131 INSERM, IRSL, Paris, France.; Laboratoire d'Excellence GR-Ex, Paris, France.; Centre d'Investigations Cliniques, Hopital Saint-Louis, Paris, France.
Giraudier S; Laboratoire de Biologie Cellulaire, AP-HP, Hopital Saint-Louis, Paris, France.; Université de Paris, U1131 INSERM, IRSL, Paris, France.; Laboratoire d'Excellence GR-Ex, Paris, France.
Cassinat B; Laboratoire de Biologie Cellulaire, AP-HP, Hopital Saint-Louis, Paris, France.; Université de Paris, U1131 INSERM, IRSL, Paris, France.; Laboratoire d'Excellence GR-Ex, Paris, France.; Pokaż więcej
Źródło :: International journal of laboratory hematology [Int J Lab Hematol] 2020 Dec; Vol. 42 (6), pp. 827-832. Date of Electronic Publication: 2020 Jul 02.
Typ publikacji :: Journal Article; Observational Study
MeSH Terms :: Exons*
Mutation*
Calreticulin/*genetics
Hematologic Neoplasms/*genetics
Myeloproliferative Disorders/*genetics
Neoplasm Proteins/*genetics
DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Polymerase Chain Reaction
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 10 10.

Tytuł :: Compound heterozygous protein C variants undetectable by common laboratory testing causing purpura fulminans after the neonatal period.
Autorzy :: MacQuarrie KL; Division of Hematology, Oncology, and Stem Cell Transplantation, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois.
Williams O; Division of Hematology, Oncology, and Stem Cell Transplantation, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois.
Friedman KD; Blood Research Institute, Versiti Blood Center of Wisconsin, Milwaukee, Wisconsin.; Division of Hematology and Oncology, Department of Internal Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin.
Bercovitz RS; Division of Hematology, Oncology, and Stem Cell Transplantation, Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois.; Pokaż więcej
Źródło :: American journal of hematology [Am J Hematol] 2020 Dec; Vol. 95 (12), pp. 1616-1621. Date of Electronic Publication: 2020 Sep 24.
Typ publikacji :: Journal Article
MeSH Terms :: Base Sequence*
Exons*
Protein C*/genetics
Protein C*/metabolism
Purpura Fulminans*/blood
Purpura Fulminans*/genetics
Purpura Fulminans*/pathology
Purpura Fulminans*/therapy
Sequence Deletion*
Amino Acid Substitution ; Blood Coagulation Tests ; Child, Preschool ; Female ; Humans ; Infant, Newborn
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 11 11.

Tytuł :: A Novel Mutation Outside of the EGFr Encoding Exons of NOTCH3 Gene in a Chinese with CADASIL.
Autorzy :: Wang W; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Ren Z; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Shi Y; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Zhang J; Department of Neurology, People's Hospital of Zhengzhou University, Zhengzhou, Henan, China. Electronic address: .; Pokaż więcej
Źródło :: Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2020 Dec; Vol. 29 (12), pp. 105410. Date of Electronic Publication: 2020 Oct 30.
Typ publikacji :: Case Reports
MeSH Terms :: Exons*
Mutation, Missense*
CADASIL/*genetics
Receptor, Notch3/*genetics
Adult ; CADASIL/diagnosis ; Genetic Predisposition to Disease ; Heredity ; Heterozygote ; Humans ; Male ; Pedigree ; Phenotype ; Protein Domains ; Receptor, Notch3/chemistry
: Raport

Szczegóły

Skocz do pozycji: 12 12.

Tytuł :: Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of the CD44 Gene.
Autorzy :: Fukushima S; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.; Research Center for Locomotion Biology, Kobe Gakuin University, Kobe 651-2180, Japan.
Farea M; Research Center for Locomotion Biology, Kobe Gakuin University, Kobe 651-2180, Japan.
Maeta K; Research Center for Locomotion Biology, Kobe Gakuin University, Kobe 651-2180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan.
Rani AQM; Research Center for Locomotion Biology, Kobe Gakuin University, Kobe 651-2180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan.
Fujioka K; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Nishio H; Research Center for Locomotion Biology, Kobe Gakuin University, Kobe 651-2180, Japan.; Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan.
Matsuo M; Research Center for Locomotion Biology, Kobe Gakuin University, Kobe 651-2180, Japan.; KNC Department of Nucleic Acid Drug Discovery, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan.; Pokaż więcej
Źródło :: International journal of molecular sciences [Int J Mol Sci] 2020 Nov 30; Vol. 21 (23). Date of Electronic Publication: 2020 Nov 30.
Typ publikacji :: Journal Article
MeSH Terms :: Alternative Splicing*
Exons*
Genes, Reporter*
Hyaluronan Receptors/*genetics
Oligonucleotides, Antisense/*genetics
Gene Order ; Genetic Vectors/genetics ; High-Throughput Screening Assays ; Humans ; Recombinant Fusion Proteins/genetics
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 13 13.

Tytuł :: Poison Exon Splicing Regulates a Coordinated Network of SR Protein Expression during Differentiation and Tumorigenesis.
Autorzy :: Leclair NK; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA; Graduate Program in Genetics and Development, UConn Health, Farmington, CT, USA.
Brugiolo M; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Urbanski L; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA; Graduate Program in Genetics and Development, UConn Health, Farmington, CT, USA.
Lawson SC; Graduate Program in Genetics and Development, UConn Health, Farmington, CT, USA; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA.
Thakar K; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Yurieva M; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
George J; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA; Institute for Systems Genomics, UConn Health, Farmington, CT, USA.
Hinson JT; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA.
Cheng A; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA; Institute for Systems Genomics, UConn Health, Farmington, CT, USA.
Graveley BR; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA; Institute for Systems Genomics, UConn Health, Farmington, CT, USA.
Anczuków O; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA; Department of Genetics and Genome Sciences, UConn Health, Farmington, CT, USA; Institute for Systems Genomics, UConn Health, Farmington, CT, USA. Electronic address: .; Pokaż więcej
Źródło :: Molecular cell [Mol Cell] 2020 Nov 19; Vol. 80 (4), pp. 648-665.e9. Date of Electronic Publication: 2020 Nov 10.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :: Cell Differentiation*
Exons*
RNA Splicing*
Breast Neoplasms/*pathology
Myelodysplastic Syndromes/*pathology
Nerve Tissue Proteins/*metabolism
Serine-Arginine Splicing Factors/*metabolism
Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Female ; Humans ; Myelodysplastic Syndromes/genetics ; Myelodysplastic Syndromes/metabolism ; Nerve Tissue Proteins/genetics ; Protein Isoforms ; Serine-Arginine Splicing Factors/genetics ; Tumor Cells, Cultured
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 14 14.

Tytuł :: Revised Exon Structure of l-DOPA Decarboxylase ( DDC ) Reveals Novel Splice Variants Associated with Colorectal Cancer Progression.
Autorzy :: Artemaki PI; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.
Papatsirou M; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.
Boti MA; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.
Adamopoulos PG; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.
Christodoulou S; Fourth Surgery Department, National and Kapodistrian University of Athens, University General Hospital 'Attikon', 12462 Athens, Greece.
Vassilacopoulou D; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.
Scorilas A; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.
Kontos CK; Department of Biochemistry and Molecular Biology, Faculty of Biology, National and Kapodistrian University of Athens, 15701 Athens, Greece.; Pokaż więcej
Źródło :: International journal of molecular sciences [Int J Mol Sci] 2020 Nov 13; Vol. 21 (22). Date of Electronic Publication: 2020 Nov 13.
Typ publikacji :: Journal Article
MeSH Terms :: Alternative Splicing*
Aromatic-L-Amino-Acid Decarboxylases*/biosynthesis
Aromatic-L-Amino-Acid Decarboxylases*/genetics
Colorectal Neoplasms*/enzymology
Colorectal Neoplasms*/genetics
Exons*
Gene Expression Regulation, Enzymologic*
Gene Expression Regulation, Neoplastic*
Neoplasm Proteins*/biosynthesis
Neoplasm Proteins*/genetics
Cell Line, Tumor ; Disease Progression ; HEK293 Cells ; Humans ; Isoenzymes/biosynthesis ; Isoenzymes/genetics ; Transcription, Genetic
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 15 15.

Tytuł :: [Exon and Intron Variability in Salmonidae Growth Hormone Genes].
Autorzy :: Kamenskaya DN; Zhirmunsky National Scientific Center of Marine Biology, Far Eastern Branch, Russian Academy of Sciences, Vladivostok, 690041 Russia.; .
Pankova MV; Far Eastern Federal University, School of Natural Sciences, Vladivostok, 690012 Russia.
Brykov VA; Zhirmunsky National Scientific Center of Marine Biology, Far Eastern Branch, Russian Academy of Sciences, Vladivostok, 690041 Russia.; Far Eastern Federal University, School of Natural Sciences, Vladivostok, 690012 Russia.; Pokaż więcej
Źródło :: Molekuliarnaia biologiia [Mol Biol (Mosk)] 2020 Nov-Dec; Vol. 54 (6), pp. 975-979.
Typ publikacji :: Journal Article
MeSH Terms :: Exons*
Gene Duplication*
Introns*
Salmonidae*/genetics
Growth Hormone/*genetics
Animals ; Fish Proteins/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 16 16.

Tytuł :: EGFR exon 20 insertions in advanced non-small cell lung cancer: A new history begins.
Autorzy :: Remon J; Department of Medical Oncology, Centro Integral Oncológico Clara Campal (HM-CIOCC), Hospital HM Delfos, HM Hospitales, Barcelona, Spain. Electronic address: .
Hendriks LEL; Department of Respiratory Medicine, Maastricht University Medical Centre, GROW School for Oncology and Developmental Biology, Maastricht, the Netherlands.
Cardona AF; Clinical and Translational Oncology Group, Clínica del Country, Bogotá, Colombia; Foundation for Clinical and Applied Cancer Research - FICMAC, Bogotá, Colombia; Clinical Research and Biology Systems Department, Universidad el Bosque, Bogotá, Colombia.
Besse B; Gustave Roussy, Department of Cancer Medicine, Villejuif, France; Université Paris-Saclay, Orsay, France.; Pokaż więcej
Źródło :: Cancer treatment reviews [Cancer Treat Rev] 2020 Nov; Vol. 90, pp. 102105. Date of Electronic Publication: 2020 Sep 14.
Typ publikacji :: Journal Article; Review
MeSH Terms :: Exons*
Carcinoma, Non-Small-Cell Lung/*drug therapy
Carcinoma, Non-Small-Cell Lung/*genetics
ErbB Receptors/*genetics
Lung Neoplasms/*drug therapy
Lung Neoplasms/*genetics
Animals ; Antineoplastic Agents/pharmacology ; Antineoplastic Agents/therapeutic use ; Carcinoma, Non-Small-Cell Lung/enzymology ; Clinical Trials, Phase I as Topic ; Clinical Trials, Phase II as Topic ; ErbB Receptors/antagonists & inhibitors ; Genes, erbB-1 ; Humans ; Lung Neoplasms/enzymology ; Protein Kinase Inhibitors/pharmacology ; Protein Kinase Inhibitors/therapeutic use ; Randomized Controlled Trials as Topic
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 17 17.

Tytuł :: Mutations primarily alter the inclusion of alternatively spliced exons.
Autorzy :: Baeza-Centurion P; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Miñana B; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Valcárcel J; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.
Lehner B; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Pokaż więcej
Źródło :: ELife [Elife] 2020 Oct 28; Vol. 9. Date of Electronic Publication: 2020 Oct 28.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :: Alternative Splicing*
Exons*
Mutation*
Disease/*genetics
Alleles ; Humans ; Introns ; RNA, Messenger/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 18 18.

Tytuł :: CELF2 regulates the species-specific alternative splicing of TREM2.
Autorzy :: Yanaizu M; Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, 2-522-1, Noshio, Kiyose-shi, Tokyo, 204-8588, Japan.
Washizu C; Laboratory for Structural Neuropathology, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama, 351-0043, Japan.
Nukina N; Laboratory for Structural Neuropathology, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama, 351-0043, Japan.; Laboratory of Structural Neuropathology, Doshisha University Graduate School of Brain Science, Kyoto, 610-0394, Japan.
Satoh JI; Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, 2-522-1, Noshio, Kiyose-shi, Tokyo, 204-8588, Japan.
Kino Y; Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University, 2-522-1, Noshio, Kiyose-shi, Tokyo, 204-8588, Japan. .; Laboratory for Structural Neuropathology, RIKEN Brain Science Institute, 2-1 Hirosawa, Wako-shi, Saitama, 351-0043, Japan. .; Pokaż więcej
Źródło :: Scientific reports [Sci Rep] 2020 Oct 22; Vol. 10 (1), pp. 17995. Date of Electronic Publication: 2020 Oct 22.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Alternative Splicing*
Exons*
Gene Expression Regulation*
CELF Proteins/*metabolism
Membrane Glycoproteins/*genetics
Nerve Tissue Proteins/*metabolism
Receptors, Immunologic/*genetics
Animals ; CELF Proteins/genetics ; HEK293 Cells ; Humans ; Membrane Glycoproteins/metabolism ; Mice ; Nerve Tissue Proteins/genetics ; Receptors, Immunologic/metabolism ; Species Specificity
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 19 19.

Tytuł :: First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene.
Autorzy :: Miro J; LGMR, Univ Montpellier, 34093 Montpellier, France.
Bougé AL; LGMR, Univ Montpellier, 34093 Montpellier, France.
Murauer E; LGMR, Univ Montpellier, 34093 Montpellier, France.
Beyne E; LGMR, Univ Montpellier, 34093 Montpellier, France.
Da Cunha D; LGMR, Univ Montpellier, 34093 Montpellier, France.
Claustres M; LGMR, Univ Montpellier, 34093 Montpellier, France.
Koenig M; LGMR, Univ Montpellier, 34093 Montpellier, France.; CHU of Montpellier, 34090 Montpellier, France.
Tuffery-Giraud S; LGMR, Univ Montpellier, 34093 Montpellier, France.; Pokaż więcej
Źródło :: International journal of molecular sciences [Int J Mol Sci] 2020 Oct 21; Vol. 21 (20). Date of Electronic Publication: 2020 Oct 21.
Typ publikacji :: Journal Article
MeSH Terms :: Exons*
Dystrophin/*genetics
RNA Recognition Motif Proteins/*genetics
Adult ; Alternative Splicing ; Cell Line ; Gene Expression Regulation ; Humans ; Introns ; Myoblasts, Skeletal/physiology ; RNA Interference
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 20 20.

Tytuł :: The mouse Sry locus harbors a cryptic exon that is essential for male sex determination.
Autorzy :: Miyawaki S; Laboratory of Epigenome Dynamics, Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamadaoka, Suita, Osaka, 565-0871, Japan.; Division of Epigenome Dynamics, Institute of Advanced Medical Sciences, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima, 770-8503, Japan.
Kuroki S; Laboratory of Epigenome Dynamics, Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamadaoka, Suita, Osaka, 565-0871, Japan.; Division of Epigenome Dynamics, Institute of Advanced Medical Sciences, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima, 770-8503, Japan.
Maeda R; Laboratory of Epigenome Dynamics, Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamadaoka, Suita, Osaka, 565-0871, Japan.; Division of Epigenome Dynamics, Institute of Advanced Medical Sciences, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima, 770-8503, Japan.
Okashita N; Laboratory of Epigenome Dynamics, Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamadaoka, Suita, Osaka, 565-0871, Japan.; Division of Epigenome Dynamics, Institute of Advanced Medical Sciences, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima, 770-8503, Japan.
Koopman P; Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia.
Tachibana M; Laboratory of Epigenome Dynamics, Graduate School of Frontier Biosciences, Osaka University, 1-3 Yamadaoka, Suita, Osaka, 565-0871, Japan. .; Division of Epigenome Dynamics, Institute of Advanced Medical Sciences, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima, 770-8503, Japan.; Pokaż więcej
Źródło :: Science (New York, N.Y.) [Science] 2020 Oct 02; Vol. 370 (6512), pp. 121-124.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Exons*
Genes, Essential*
Sex Determination Processes*
Sex-Determining Region Y Protein/*genetics
Animals ; CRISPR-Cas Systems ; Gene Editing ; Genetic Loci ; Male ; Mice ; Mice, Transgenic ; RNA, Untranslated/genetics ; Sequence Deletion ; Transcription, Genetic
: Czasopismo naukowe

Szczegóły Pełny tekst

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