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Wyszukujesz frazę ""Sequence Deletion"" wg kryterium: Temat


Tytuł :
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer.
Autorzy :
Jermusyk A; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Zhong J; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Connelly KE; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Gordon N; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Perera S; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, NIH, Frederick, MD 21702, USA.
Abdolalizadeh E; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Zhang T; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
O'Brien A; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Hoskins JW; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Collins I; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Eiser D; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Yuan C; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Risch HA; Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT 06520, USA.
Jacobs EJ; Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA 30303, USA.
Li D; Department of Gastrointestinal Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Du M; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY 10017, USA.
Stolzenberg-Solomon RZ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Klein AP; Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD 21231, USA; Department of Pathology, Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.
Smith JP; Department of Medicine, Georgetown University, Washington, DC 20057, USA.
Wolpin BM; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Chanock SJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Shi J; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Petersen GM; Department of Quantitative Health Sciences, College of Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Westlake CJ; Laboratory of Cell and Developmental Signaling, Center for Cancer Research, National Cancer Institute, NIH, Frederick, MD 21702, USA.
Amundadottir LT; Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address: .
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Corporate Authors :
PanScan Consortium
PanC4 Consortium
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1852-1865. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms :
Polymorphism, Single Nucleotide*
Quantitative Trait Loci*
Sequence Deletion*
Chymotrypsin/*genetics
Pancreatic Neoplasms/*pathology
Case-Control Studies ; Chymotrypsin/antagonists & inhibitors ; Chymotrypsin/metabolism ; Genome-Wide Association Study ; Genotype ; Humans ; Pancreatic Neoplasms/etiology ; Pancreatic Neoplasms/metabolism
Czasopismo naukowe
Tytuł :
Multiple Occurrences of a 168-Nucleotide Deletion in SARS-CoV-2 ORF8, Unnoticed by Standard Amplicon Sequencing and Variant Calling Pipelines.
Autorzy :
Brandt D; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.
Simunovic M; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.
Busche T; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.
Haak M; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.
Belmann P; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.; Faculty of Technology, Bielefeld University, 33615 Bielefeld, Germany.
Jünemann S; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.; Faculty of Technology, Bielefeld University, 33615 Bielefeld, Germany.
Schulz T; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.; Faculty of Technology, Bielefeld University, 33615 Bielefeld, Germany.
Klages LJ; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.
Vinke S; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.
Beckstette M; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.; Faculty of Technology, Bielefeld University, 33615 Bielefeld, Germany.
Pohl E; Department of Biosciences, Durham University, Durham DH1 3LE, UK.
Scherer C; Evangelisches Klinikum Bethel, Institut für Laboratoriumsmedizin, Mikrobiologie und Hygiene, 33617 Bielefeld, Germany.; Universitätsklinikum OWL der Universität Bielefeld, 33615 Bielefeld, Germany.
Sczyrba A; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.; Faculty of Technology, Bielefeld University, 33615 Bielefeld, Germany.
Kalinowski J; Center for Biotechnology (CeBiTec), Bielefeld University, 33615 Bielefeld, Germany.
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Źródło :
Viruses [Viruses] 2021 Sep 18; Vol. 13 (9). Date of Electronic Publication: 2021 Sep 18.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Viral*
Sequence Deletion*
COVID-19/*virology
SARS-CoV-2/*genetics
Genetic Variation ; Humans ; Nanopore Sequencing ; Open Reading Frames ; Sequence Analysis, RNA ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
The Significance of the DUF283 Domain for the Activity of Human Ribonuclease Dicer.
Autorzy :
Szczepanska A; Department of Ribonucleoprotein Biochemistry, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznan, Poland.
Wojnicka M; Department of Ribonucleoprotein Biochemistry, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznan, Poland.
Kurzynska-Kokorniak A; Department of Ribonucleoprotein Biochemistry, Institute of Bioorganic Chemistry Polish Academy of Sciences, 61-704 Poznan, Poland.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 13; Vol. 22 (16). Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Journal Article
MeSH Terms :
Sequence Deletion*
DEAD-box RNA Helicases/*chemistry
DEAD-box RNA Helicases/*metabolism
RNA/*metabolism
Ribonuclease III/*chemistry
Ribonuclease III/*metabolism
Base Pairing ; DEAD-box RNA Helicases/genetics ; HEK293 Cells ; Humans ; Models, Molecular ; Nucleic Acid Conformation ; Protein Conformation ; Protein Domains ; RNA/chemistry ; Ribonuclease III/genetics
Czasopismo naukowe
Tytuł :
CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells.
Autorzy :
Boutin J; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; University Hospital Bordeaux, Biochemistry Laboratory, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Rosier J; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Cappellen D; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.; University Hospital Bordeaux, Tumor Biology and Tumor Bank Laboratory, Bordeaux, France.
Prat F; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Toutain J; Bordeaux University, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Pennamen P; Bordeaux University, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Bouron J; Bordeaux University, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Rooryck C; Bordeaux University, Bordeaux, France.; Bordeaux University, MRGM INSERM U1211, CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Merlio JP; Bordeaux University, Bordeaux, France.; University Hospital Bordeaux, Tumor Biology and Tumor Bank Laboratory, Bordeaux, France.; INSERM U1053, Bordeaux Research in Translational Oncology, Bordeaux, France.
Lamrissi-Garcia I; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Cullot G; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Amintas S; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.; University Hospital Bordeaux, Tumor Biology and Tumor Bank Laboratory, Bordeaux, France.
Guyonnet-Duperat V; INSERM US 005-CNRS UMS 342-TBM-Core, Bordeaux University, Bordeaux, France.
Ged C; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; University Hospital Bordeaux, Biochemistry Laboratory, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Blouin JM; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; University Hospital Bordeaux, Biochemistry Laboratory, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Richard E; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; University Hospital Bordeaux, Biochemistry Laboratory, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Dabernat S; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; University Hospital Bordeaux, Biochemistry Laboratory, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
Moreau-Gaudry F; Bordeaux University, Bordeaux, France. .; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France. .; University Hospital Bordeaux, Biochemistry Laboratory, Bordeaux, France. .; Laboratory of Excellence, Gr-Ex, Bordeaux, France. .; INSERM US 005-CNRS UMS 342-TBM-Core, Bordeaux University, Bordeaux, France. .
Bedel A; Bordeaux University, Bordeaux, France.; INSERM U1035, Biotherapy of Genetic Diseases, Inflammatory disorders and Cancers, Bordeaux, France.; University Hospital Bordeaux, Biochemistry Laboratory, Bordeaux, France.; Laboratory of Excellence, Gr-Ex, Bordeaux, France.
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Źródło :
Nature communications [Nat Commun] 2021 Aug 13; Vol. 12 (1), pp. 4922. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
CRISPR-Cas Systems*
Sequence Deletion*
Gene Editing/*methods
Globins/*genetics
Hematopoietic Stem Cells/*metabolism
Loss of Heterozygosity/*genetics
Cells, Cultured ; Chromosome Deletion ; Chromosomes, Human, Pair 11/genetics ; DNA Methylation ; Gene Expression ; HEK293 Cells ; Hematopoietic Stem Cells/cytology ; Humans ; Insulin-Like Growth Factor II/genetics ; Polymorphism, Single Nucleotide ; RNA, Long Noncoding/genetics
Czasopismo naukowe
Tytuł :
A novel deletion of the major regulatory element flanking the α-globin gene cluster as a cause of α -thalassemia.
Autorzy :
Jiang F; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.
Xu LL; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.
Tang XW; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.
Li DZ; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, China.
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Źródło :
International journal of laboratory hematology [Int J Lab Hematol] 2021 Aug; Vol. 43 (4), pp. O190-O192. Date of Electronic Publication: 2021 Mar 09.
Typ publikacji :
Letter
MeSH Terms :
Genetic Predisposition to Disease*
Multigene Family*
Regulatory Sequences, Nucleic Acid*
Sequence Deletion*
alpha-Globins/*genetics
alpha-Thalassemia/*genetics
Genetic Association Studies ; Humans ; alpha-Thalassemia/diagnosis
Opinia redakcyjna
Tytuł :
Characterization and identification of Prachinburi β -thalassemia: A novel-60 kb deletion in beta globin gene related to high levels of Hb F in heterozygous state.
Autorzy :
Jomoui W; Department of Pathology, Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok, Thailand.
Tepakhan W; Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand.
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Źródło :
International journal of laboratory hematology [Int J Lab Hematol] 2021 Aug; Vol. 43 (4), pp. O200-O203. Date of Electronic Publication: 2021 Mar 18.
Typ publikacji :
Letter
MeSH Terms :
Heterozygote*
Sequence Deletion*
Fetal Hemoglobin/*genetics
beta-Globins/*genetics
beta-Thalassemia/*diagnosis
beta-Thalassemia/*genetics
Hemoglobins, Abnormal/genetics ; Humans
Opinia redakcyjna
Tytuł :
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Autorzy :
Wendt C; Department of Clinical Science and Education, Karolinska Institutet, Södersjukhuset, Stockholm, Sweden. .
Muranen TA; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Mielikäinen L; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Thutkawkorapin J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden.
Blomqvist C; Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Jiao X; Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden.
Ehrencrona H; Department of Clinical Genetics and Pathology, Office for Medical Services, Region Skåne, Lund, Sweden.
Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden.
Arver B; Department of Oncology-Pathology, Karolinska Institutet, Solna, Stockholm, Sweden.
Melin B; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.
Kuchinskaya E; Department of Clinical Genetics, Department of Clinical Experimental Medicine, Linköping University, Linköping, Sweden.
Stenmark Askmalm M; Department of Clinical Genetics, Department of Clinical Experimental Medicine, Linköping University, Linköping, Sweden.
Paulsson-Karlsson Y; Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Einbeigi Z; Department of Oncology, Sahlgrenska University Hospital, 41345, Göteborg, Sweden.
von Wachenfeldt Väppling A; Department of Clinical Science and Education, Karolinska Institutet, Södersjukhuset, Stockholm, Sweden.
Kalso E; Department of Anaesthesiology, Intensive Care, and Pain Medicine, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Tasmuth T; Department of Anaesthesiology, Intensive Care, and Pain Medicine, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Kallioniemi A; TAYS Cancer Centre and Faculty of Medicine and Health Technology, Tampere University; Fimlab Laboratories, Tampere University Hospital, Tampere, Finland.
Aittomäki K; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Borg Å; Department of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Medicon Village, Lund, Sweden.
Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden.
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Źródło :
Scientific reports [Sci Rep] 2021 Jul 20; Vol. 11 (1), pp. 14763. Date of Electronic Publication: 2021 Jul 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Sequence Deletion*
Breast Neoplasms/*genetics
Checkpoint Kinase 2/*genetics
Whole Exome Sequencing/*methods
Case-Control Studies ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; Multifactorial Inheritance
SCR Disease Name :
Breast Cancer, Familial
Czasopismo naukowe
Tytuł :
Structure-selective differentiation of deletion mutations in circulating tumor DNA using dual probe-based isothermal amplification.
Autorzy :
Wang Y; Institute of Materials Research and Engineering, A*STAR (Agency for Science, Technology and Research), 2 Fusionopolis Way. Innovis, #8-03, 138634, Singapore. .
Kong SL; Genome Institute of Singapore (GIS), Agency for Science, Technology and Research (A*STAR), 60 Biopolis Street, #02-01, Genome, 138672, Singapore. .
Su X; Institute of Materials Research and Engineering, A*STAR (Agency for Science, Technology and Research), 2 Fusionopolis Way. Innovis, #8-03, 138634, Singapore. and Department of Chemistry, National University of Singapore, Block S8, Level 3, 3 Science Drive 3, 117543, Singapore.
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Źródło :
Chemical communications (Cambridge, England) [Chem Commun (Camb)] 2021 Jul 08; Vol. 57 (55), pp. 6796-6799.
Typ publikacji :
Journal Article
MeSH Terms :
Sequence Deletion*
Circulating Tumor DNA/*genetics
Nucleic Acid Amplification Techniques/*methods
Humans ; Limit of Detection ; Point-of-Care Testing
Czasopismo naukowe
Tytuł :
miRNA-132/212 Gene-Deletion Aggravates the Effect of Oxygen-Glucose Deprivation on Synaptic Functions in the Female Mouse Hippocampus.
Autorzy :
Bormann D; Center for Physiology and Pharmacology, Department of Neurophysiology and Neuropharmacology, Medical University of Vienna, Schwarzspanierstraße 17, 1090 Vienna, Austria.; Laboratory for Cardiac and Thoracic Diagnosis, Department of Surgery, Regeneration and Applied Immunology, Medical University of Vienna, Research Laboratories Vienna General Hospital, Waehringer Guertel 18-20, 1090 Vienna, Austria.; Division of Thoracic Surgery, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria.
Stojanovic T; Center for Physiology and Pharmacology, Department of Neurophysiology and Neuropharmacology, Medical University of Vienna, Schwarzspanierstraße 17, 1090 Vienna, Austria.
Cicvaric A; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, New York, NY 10461, USA.
Schuld GJ; Center for Physiology and Pharmacology, Department of Neurophysiology and Neuropharmacology, Medical University of Vienna, Schwarzspanierstraße 17, 1090 Vienna, Austria.
Cabatic M; Center for Physiology and Pharmacology, Department of Neurophysiology and Neuropharmacology, Medical University of Vienna, Schwarzspanierstraße 17, 1090 Vienna, Austria.
Ankersmit HJ; Laboratory for Cardiac and Thoracic Diagnosis, Department of Surgery, Regeneration and Applied Immunology, Medical University of Vienna, Research Laboratories Vienna General Hospital, Waehringer Guertel 18-20, 1090 Vienna, Austria.; Division of Thoracic Surgery, Medical University of Vienna, Waehringer Guertel 18-20, 1090 Vienna, Austria.; Aposcience AG, Dresdner Straße 87/A 21, 1200 Vienna, Austria.
Monje FJ; Center for Physiology and Pharmacology, Department of Neurophysiology and Neuropharmacology, Medical University of Vienna, Schwarzspanierstraße 17, 1090 Vienna, Austria.
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Źródło :
Cells [Cells] 2021 Jul 06; Vol. 10 (7). Date of Electronic Publication: 2021 Jul 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Base Sequence*
Sequence Deletion*
Brain Ischemia/*genetics
Dentate Gyrus/*metabolism
MicroRNAs/*genetics
Acetylcholine/metabolism ; Acetylcholinesterase/genetics ; Acetylcholinesterase/metabolism ; Animals ; Brain Ischemia/metabolism ; Brain Ischemia/pathology ; Cholinergic Neurons/drug effects ; Cholinergic Neurons/metabolism ; Cholinergic Neurons/pathology ; Dentate Gyrus/pathology ; Excitatory Postsynaptic Potentials/physiology ; Female ; GPI-Linked Proteins/genetics ; GPI-Linked Proteins/metabolism ; Gene Expression Regulation ; Glucose/deficiency ; Glucose/pharmacology ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; MicroRNAs/metabolism ; Microtomy ; Oxygen/pharmacology ; Patch-Clamp Techniques ; Receptor, Muscarinic M1/genetics ; Receptor, Muscarinic M1/metabolism ; Synaptic Transmission ; Tissue Culture Techniques
Czasopismo naukowe
Tytuł :
RHCE*01 48G>C, 366del allele with silenced RHCE*ce expression.
Autorzy :
Barrault A; Etablissement Français du Sang (EFS) Ile de France, Créteil, France.; Université Paris Est Creteil, INSERM U955, Transfusion et maladies du globule rouge, IMRB, Créteil, France.; Laboratoire d'Excellence GR-Ex, Paris, France.
Floch A; Etablissement Français du Sang (EFS) Ile de France, Créteil, France.; Université Paris Est Creteil, INSERM U955, Transfusion et maladies du globule rouge, IMRB, Créteil, France.; Laboratoire d'Excellence GR-Ex, Paris, France.
Devaux L; Etablissement Français du Sang (EFS) Ile de France, Créteil, France.
Gaillard K; Etablissement Français du Sang (EFS) Ile de France, Créteil, France.
Muralitharan V; Etablissement Français du Sang (EFS) Ile de France, Créteil, France.
Pirenne F; Etablissement Français du Sang (EFS) Ile de France, Créteil, France.; Université Paris Est Creteil, INSERM U955, Transfusion et maladies du globule rouge, IMRB, Créteil, France.; Laboratoire d'Excellence GR-Ex, Paris, France.
Tournamille C; Etablissement Français du Sang (EFS) Ile de France, Créteil, France.; Université Paris Est Creteil, INSERM U955, Transfusion et maladies du globule rouge, IMRB, Créteil, France.; Laboratoire d'Excellence GR-Ex, Paris, France.
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Źródło :
Transfusion [Transfusion] 2021 Jul; Vol. 61 (7), pp. E53-E54. Date of Electronic Publication: 2021 May 27.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Codon, Nonsense*
Frameshift Mutation*
Point Mutation*
Sequence Deletion*
Rh-Hr Blood-Group System/*genetics
Adult ; Alleles ; Base Sequence ; Blood Grouping and Crossmatching ; Exons/genetics ; Female ; Gene Silencing ; Hemagglutination Tests ; Humans ; Pregnancy ; Real-Time Polymerase Chain Reaction ; Rh-Hr Blood-Group System/biosynthesis
Czasopismo naukowe
Tytuł :
Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.
Autorzy :
Caporali S; Department of Industrial Engineering, University of Rome Tor Vergata, 00133 Rome, Italy.
Didona B; Fondazione Luigi Maria Monti, IDI-IRCCS, 00167 Rome, Italy.
Paradisi M; Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.
Mauriello A; Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.
Campione E; Department of Systems Medicine, University of Tor Vergata, 00133 Rome, Italy.
Falconi M; Department of Biology, University of Rome Tor Vergata, Via della Ricerca Scientifica, 00133 Rome, Italy.
Iacovelli F; Department of Biology, University of Rome Tor Vergata, Via della Ricerca Scientifica, 00133 Rome, Italy.
Minieri M; Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.
Pieri M; Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.
Bernardini S; Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.
Terrinoni A; Department of Experimental Medicine, University of Tor Vergata, 00133 Rome, Italy.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jun 27; Vol. 22 (13). Date of Electronic Publication: 2021 Jun 27.
Typ publikacji :
Journal Article
MeSH Terms :
Protein Interaction Domains and Motifs*
Sequence Deletion*
Keratin-1/*chemistry
Keratin-1/*genetics
Keratin-10/*chemistry
Nevus/*etiology
Skin Neoplasms/*etiology
Amino Acid Sequence ; Base Sequence ; Biopsy ; DNA Mutational Analysis ; Fluorescent Antibody Technique ; Humans ; Immunohistochemistry ; Keratin-1/metabolism ; Keratin-10/metabolism ; Models, Molecular ; Nevus/metabolism ; Nevus/pathology ; Protein Conformation ; Protein Multimerization ; Skin Neoplasms/metabolism ; Skin Neoplasms/pathology ; Structure-Activity Relationship
Czasopismo naukowe
Tytuł :
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
Autorzy :
Pollack S; Pediatric Nephrology Institute, Ruth Children's Hospital, Haifa, Israel.; Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Eisenstein I; Pediatric Nephrology Institute, Ruth Children's Hospital, Haifa, Israel.
Mory A; Genetic Institute, Haifa, Israel.
Paperna T; Genetic Institute, Haifa, Israel.
Ofir A; Genetic Institute, Haifa, Israel.
Baris-Feldman H; Genetic Institute, Haifa, Israel.
Weiss K; Genetic Institute, Haifa, Israel.
Veszeli N; Research Laboratory, Department of Internal Medicine and Haematology, and MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
Csuka D; Research Laboratory, Department of Internal Medicine and Haematology, and MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
Shemer R; Laboratory of Molecular Medicine, Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
Glaser F; Bioinformatics Knowledge Unit, The Lorry I. Lokey Interdisciplinary Center for Life Sciences and Engineering, Technion-Israel Institute of Technology, Haifa, Israel.
Prohászka Z; Research Laboratory, Department of Internal Medicine and Haematology, and MTA-SE Research Group of Immunology and Hematology, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.
Magen D; Pediatric Nephrology Institute, Ruth Children's Hospital, Haifa, Israel.; Laboratory of Molecular Medicine, Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.
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Źródło :
Frontiers in immunology [Front Immunol] 2021 Jun 24; Vol. 12, pp. 608604. Date of Electronic Publication: 2021 Jun 24 (Print Publication: 2021).
Typ publikacji :
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms :
Sequence Deletion*
Atypical Hemolytic Uremic Syndrome/*diagnosis
Atypical Hemolytic Uremic Syndrome/*genetics
Base Sequence/*genetics
Complement C3/*genetics
Atypical Hemolytic Uremic Syndrome/congenital ; Atypical Hemolytic Uremic Syndrome/etiology ; Child, Preschool ; Complement Activation ; Complement Membrane Attack Complex ; Genes, Recessive ; Homozygote ; Humans ; Male ; Whole Exome Sequencing
Raport
Tytuł :
SMARCB1 deletion in atypical teratoid rhabdoid tumors results in human endogenous retrovirus K (HML-2) expression.
Autorzy :
Doucet-O'Hare TT; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
DiSanza BL; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
DeMarino C; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Atkinson AL; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Rosenblum JS; Neuro-Oncology Branch, National Cancer Institute (NCI), Bethesda, USA.
Henderson LJ; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Johnson KR; Bioinformatics Section, National Institute of Neurological Disorders and Stroke, Bethesda, USA.
Kowalak J; Clinical Proteomics Unit, National Cancer Institute (NCI), Bethesda, USA.
Garcia-Montojo M; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Allen SJ; Department of Pathology, St. Jude's Children's Research Hospital, Memphis, USA.
Orr BA; Department of Pathology, St. Jude's Children's Research Hospital, Memphis, USA.
Santi M; Department of Pathology, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.
Wang T; Neural Differentiation Unit, Translational Neuroscience Center, NINDS, Bethesda, NIHMD, USA.
Fathi S; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Lee MH; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Sampson K; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Li W; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA.
Zhuang Z; Neuro-Oncology Branch, National Cancer Institute (NCI), Bethesda, USA.
Nath A; Section of Infection of the Nervous System, Disorders and Stroke (NINDS), National Institute of Neurological, National Institutes of Health (NIH), Bldg 10; Room 7C-103; 10 Center Drive, Bethesda, MD, 20892, USA. .
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Źródło :
Scientific reports [Sci Rep] 2021 Jun 18; Vol. 11 (1), pp. 12893. Date of Electronic Publication: 2021 Jun 18.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural
MeSH Terms :
Sequence Deletion*
Cell Transformation, Neoplastic/*genetics
Endogenous Retroviruses/*genetics
Rhabdoid Tumor/*etiology
Rhabdoid Tumor/*pathology
SMARCB1 Protein/*deficiency
Virus Activation/*genetics
Biomarkers, Tumor ; Cell Line, Tumor ; Cell Proliferation ; Cell-Derived Microparticles/metabolism ; Disease Susceptibility ; GTP Phosphohydrolases/metabolism ; Gene Expression Regulation ; Humans ; Membrane Proteins/metabolism ; Repetitive Sequences, Nucleic Acid ; Signal Transduction
Czasopismo naukowe
Tytuł :
Deletion of the clock gene Period2 (Per2) in glial cells alters mood-related behavior in mice.
Autorzy :
Martini T; Department of Biology, Faculty of Science and Medicine, University of Fribourg, 1700, Fribourg, Switzerland.
Ripperger JA; Department of Biology, Faculty of Science and Medicine, University of Fribourg, 1700, Fribourg, Switzerland.
Stalin J; Department of Oncology, Microbiology and Immunology, Faculty of Science and Medicine, University of Fribourg, 1700, Fribourg, Switzerland.
Kores A; Department of Biology, Faculty of Science and Medicine, University of Fribourg, 1700, Fribourg, Switzerland.
Stumpe M; Department of Biology, Faculty of Science and Medicine, University of Fribourg, 1700, Fribourg, Switzerland.
Albrecht U; Department of Biology, Faculty of Science and Medicine, University of Fribourg, 1700, Fribourg, Switzerland. .
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Źródło :
Scientific reports [Sci Rep] 2021 Jun 10; Vol. 11 (1), pp. 12242. Date of Electronic Publication: 2021 Jun 10.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Affect*
Behavior, Animal*
Sequence Deletion*
Neuroglia/*metabolism
Period Circadian Proteins/*genetics
Animals ; Astrocytes/metabolism ; Breeding ; Circadian Rhythm ; Dependovirus/genetics ; Gene Expression ; Genetic Association Studies ; Genetic Vectors/genetics ; Mice ; Phenotype ; Transduction, Genetic
Czasopismo naukowe
Tytuł :
A novel deletion variant in CLN3 with highly variable expressivity is responsible for juvenile neuronal ceroid lipofuscinoses.
Autorzy :
Gilani N; Department of Biology, Gaziantep University, Gaziantep, Turkey. .; Farabi Molecular Laboratory, Irbil, Iraq. .
Razmara E; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Ozaslan M; Department of Biology, Gaziantep University, Gaziantep, Turkey.
Abdulzahra IK; Kurdistan College of Medicine, Irbil, Iraq.
Arzhang S; School of Medicine, Shahrekord University of Medical Science, Shahrekord, Iran.
Tavasoli AR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran. .
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Źródło :
Acta neurologica Belgica [Acta Neurol Belg] 2021 Jun; Vol. 121 (3), pp. 737-748. Date of Electronic Publication: 2021 Mar 30.
Typ publikacji :
Journal Article
MeSH Terms :
Sequence Deletion*
Brain/*diagnostic imaging
Membrane Glycoproteins/*genetics
Molecular Chaperones/*genetics
Neuronal Ceroid-Lipofuscinoses/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Humans ; Magnetic Resonance Imaging ; Male ; Neuroimaging ; Neuronal Ceroid-Lipofuscinoses/diagnostic imaging ; Phenotype ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
A rare complex rearrangement in the β-globin gene cluster causing a novel homozygous -thalassemia.
Autorzy :
Zhang X; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Yang Y; Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Sichuan University, Chengdu, China.
Zhang H; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Du Z; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
Liu H; Department of Obstetrics and Gynecology, West China Second University Hospital of Sichuan University and Key Laboratory of Birth Defects and Related Diseases of Women and Children, Sichuan University, Ministry of Education, Chengdu, China.
Shen Y; Department of Obstetrics/Gynecology, Joint Laboratory of Reproductive Medicine (SCU-CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, China.
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Źródło :
American journal of hematology [Am J Hematol] 2021 Jun 01; Vol. 96 (6), pp. E189-E193. Date of Electronic Publication: 2021 Mar 22.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Sequence Deletion*
beta-Globins/*genetics
beta-Thalassemia/*genetics
delta-Globins/*genetics
gamma-Globins/*genetics
Adolescent ; Consanguinity ; Fetal Hemoglobin/analysis ; Homozygote ; Humans ; Male ; Multigene Family ; Pedigree ; Phenotype ; beta-Globins/deficiency ; beta-Thalassemia/blood ; delta-Globins/deficiency ; gamma-Globins/deficiency
Raport
Tytuł :
The prognostic significance of del6q23 in chronic lymphocytic leukemia.
Autorzy :
Audil HY; Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.
Hampel PJ; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Van Dyke DL; Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota.
Achenbach SJ; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Rabe KG; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Smoley SA; Division of Laboratory Genetics, Mayo Clinic, Rochester, Minnesota.
Call TG; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Ding W; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Shi M; Division of Hematopathology, Mayo Clinic, Rochester, Minnesota.
Hanson CA; Division of Hematopathology, Mayo Clinic, Rochester, Minnesota.
Wang Y; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Muchtar E; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Koehler AB; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Schwager SM; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Leis JF; Division of Hematology and Oncology, Mayo Clinic, Phoenix, Arizona.
Braggio E; Division of Hematology and Oncology, Mayo Clinic, Phoenix, Arizona.
Slager SL; Division of Hematology, Mayo Clinic, Rochester, Minnesota.; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Kay NE; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Kenderian SS; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
Parikh SA; Division of Hematology, Mayo Clinic, Rochester, Minnesota.
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Źródło :
American journal of hematology [Am J Hematol] 2021 Jun 01; Vol. 96 (6), pp. E203-E206. Date of Electronic Publication: 2021 Apr 07.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Sequence Deletion*
Chromosomes, Human, Pair 6/*genetics
Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
Adult ; Aged ; Aged, 80 and over ; Chromosomes, Human, Pair 6/ultrastructure ; Disease Progression ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Lymphocytic, Chronic, B-Cell/mortality ; Male ; Middle Aged ; Prognosis ; Time-to-Treatment ; Young Adult
Raport
Tytuł :
Transcription activation depends on the length of the RNA polymerase II C-terminal domain.
Autorzy :
Sawicka A; Department of Molecular Biology, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany.
Villamil G; Department of Molecular Biology, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany.
Lidschreiber M; Department of Molecular Biology, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany.
Darzacq X; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.; CIRM Center of Excellence, University of California, Berkeley, CA, USA.
Dugast-Darzacq C; Department of Molecular and Cell Biology, University of California, Berkeley, CA, USA.; CIRM Center of Excellence, University of California, Berkeley, CA, USA.
Schwalb B; Department of Molecular Biology, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany.
Cramer P; Department of Molecular Biology, Max Planck Institute for Biophysical Chemistry, Göttingen, Germany.
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Źródło :
The EMBO journal [EMBO J] 2021 May 03; Vol. 40 (9), pp. e107015. Date of Electronic Publication: 2021 Feb 08.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Sequence Deletion*
Transcriptional Activation*
RNA Polymerase II/*chemistry
RNA Polymerase II/*metabolism
Enhancer Elements, Genetic ; Gene Expression Profiling ; Humans ; MAP Kinase Signaling System ; Promoter Regions, Genetic ; Protein Domains ; RNA Polymerase II/genetics
Czasopismo naukowe
Tytuł :
Genetics background of β-thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization.
Autorzy :
Tepakhan W; Faculty of Medicine, Department of Pathology, Prince of Songkla University, Songkhla, Thailand.
Srewaradachpisal K; Faculty of Medicine, Department of Pathology, Prince of Songkla University, Songkhla, Thailand.
Kanjanaopas S; Faculty of Medicine, Department of Pathology, Prince of Songkla University, Songkhla, Thailand.
Jomoui W; Faculty of Medicine, Department of Pathology, Maha Chakri Sirindhorn Medical Center, Srinakharinwirot University, Nakhon Nayok, Thailand.
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Źródło :
Annals of human genetics [Ann Hum Genet] 2021 May; Vol. 85 (3-4), pp. 115-124. Date of Electronic Publication: 2021 Feb 08.
Typ publikacji :
Journal Article
MeSH Terms :
Sequence Deletion*
beta-Thalassemia/*genetics
Alleles ; Gene Frequency ; Haplotypes ; Humans ; Thailand ; beta-Globins/genetics
Czasopismo naukowe
Tytuł :
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Autorzy :
Materna-Kiryluk A; Polish Registry of Congenital Malformations, Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan 61-701, Poland.
Pollak A; Department of Medical Genetics, Warsaw Medical University, Warsaw 02-106, Poland.
Gawalski K; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.
Szczawinska-Poplonyk A; Department of Pediatric Pneumonology, Allergology and Clinical Immunology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan 60-572, Poland.
Rydzynska Z; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.
Sosnowska A; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.
Cukrowska B; Laboratory of Immunology, Department of Pathology, The Children's Memorial Health Institute, Warsaw 04-730, Poland.
Gasperowicz P; Department of Medical Genetics, Warsaw Medical University, Warsaw 02-106, Poland.
Konopka E; Laboratory of Immunology, Department of Pathology, The Children's Memorial Health Institute, Warsaw 04-730, Poland.
Pietrucha B; Department of Clinical Immunology, The Children's Memorial Health Institute, Warsaw 04-730, Poland.
Grzywa TM; Department of Immunology, Medical University of Warsaw, Warsaw 02-097, Poland.; The Doctoral School of the Medical University of Warsaw, Warsaw 02-091, Poland.
Banaszak-Ziemska M; Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan 60-572, Poland.
Niedziela M; Department of Pediatric Endocrinology and Rheumatology, Institute of Pediatrics, Poznan University of Medical Sciences, Poznan 60-572, Poland.
Skalska-Sadowska J; Department of Pediatric Oncology, Hematology and Transplantology University of Medical Sciences, Poznań 61-854, Poland.
Stawiński P; Department of Medical Genetics, Warsaw Medical University, Warsaw 02-106, Poland.
Śladowski D; Department of Transplantology and Central Tissue Bank, Centre for Biostructure, Medical University of Warsaw, Warsaw 02-004, Poland.
Nowis D; Laboratory of Experimental Medicine, Medical University of Warsaw, Warsaw 02-097, Poland.
Ploski R; Department of Medical Genetics, Warsaw Medical University, Warsaw 02-106, Poland.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2021 Apr 26; Vol. 30 (3-4), pp. 226-233.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Sequence Deletion*
Signal Transduction*
Cytokine Receptor gp130/*genetics
Hereditary Autoinflammatory Diseases/*genetics
Immunologic Deficiency Syndromes/*genetics
Child ; Cytokine Receptor gp130/metabolism ; European Continental Ancestry Group/genetics ; Hereditary Autoinflammatory Diseases/drug therapy ; Hereditary Autoinflammatory Diseases/metabolism ; Humans ; Immunologic Deficiency Syndromes/congenital ; Immunologic Deficiency Syndromes/drug therapy ; Immunologic Deficiency Syndromes/metabolism ; Male ; Nitriles/pharmacology ; Nitriles/therapeutic use ; Pedigree ; Phosphorylation ; Piperidines/pharmacology ; Piperidines/therapeutic use ; Poland ; Protein Kinase Inhibitors/pharmacology ; Protein Kinase Inhibitors/therapeutic use ; Protein Processing, Post-Translational ; Pyrazoles/pharmacology ; Pyrazoles/therapeutic use ; Pyrimidines/pharmacology ; Pyrimidines/therapeutic use ; STAT3 Transcription Factor/antagonists & inhibitors ; STAT3 Transcription Factor/metabolism ; Whole Exome Sequencing
Czasopismo naukowe

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