Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""mutation"" wg kryterium: Temat


Starter badań:

Tytuł :
Prevalence and clinical characterization of BRCA1 and BRCA2 mutations in Korean patients with epithelial ovarian cancer.
Autorzy :
Paik ES; Department of Obstetrics and Gynecology, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.
Heo EJ; Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Choi CH; Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kim JH; Department of Obstetrics and Gynecology, Gangnam Severance Hospital, Yonsei University School of Medicine, Seoul, Korea.
Kim JW; Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University School of Medicine, Seoul, Korea.
Kim YM; Department of Obstetrics and Gynecology, Asan Medical Center, Ulsan University School of Medicine, Seoul, Korea.
Park SY; Center for Uterine Cancer, Research Institute and Hospital, National Cancer Center, Goyang, Korea.
Lee JW; Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kim JW; Department of Clinical Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kim BG; Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Pokaż więcej
Źródło :
Cancer science [Cancer Sci] 2021 Dec; Vol. 112 (12), pp. 5055-5067. Date of Electronic Publication: 2021 Oct 25.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Carcinoma, Ovarian Epithelial/*therapy
Ovarian Neoplasms/*therapy
Adult ; Aged ; Carcinoma, Ovarian Epithelial/genetics ; Carcinoma, Ovarian Epithelial/pathology ; Female ; Germ-Line Mutation ; Humans ; Middle Aged ; Mutation Rate ; Neoplasm Grading ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Prevalence ; Republic of Korea/epidemiology ; Retrospective Studies ; Survival Analysis ; Treatment Outcome
Czasopismo naukowe
Tytuł :
Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants.
Autorzy :
Sevim Bayrak C; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Stein D; The Graduate School of Biomedical Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Jain A; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Chaudhary K; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Nadkarni GN; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Division of Nephrology, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Van Vleck TT; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM 1163, Paris, France; University of Paris, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM 1163, Paris, France; University of Paris, Imagine Institute, 75015 Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA.
Okada S; Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima 734-8551, Japan.
Stenson PD; Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK.
Cooper DN; Institute of Medical Genetics, Cardiff University, Cardiff CF14 4XN, UK.
Schlessinger A; Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: .
Itan Y; Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: .
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Dec 02; Vol. 108 (12), pp. 2301-2318. Date of Electronic Publication: 2021 Nov 10.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Genetic*
Gain of Function Mutation*
Loss of Function Mutation*
Proteins/*genetics
Cloud Computing ; Genetic Predisposition to Disease ; Genome, Human ; Germ-Line Mutation ; Humans ; Internet-Based Intervention ; Machine Learning
Czasopismo naukowe
Tytuł :
Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations.
Autorzy :
Hasegawa A; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Hayashi R; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Shimomura Y; Department of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
Hirashima M; Division of Pharmacology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Abe R; Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Pokaż więcej
Źródło :
The Journal of dermatology [J Dermatol] 2021 Dec; Vol. 48 (12), pp. 1926-1930. Date of Electronic Publication: 2021 Sep 17.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Keratoderma, Palmoplantar*/diagnosis
Keratoderma, Palmoplantar*/genetics
Mutation, Missense*
Adaptor Proteins, Vesicular Transport/genetics ; Humans ; Japan ; Mutation ; Pedigree
Czasopismo naukowe
Tytuł :
CRB1 -Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.
Autorzy :
Mairot K; Department of Ophthalmology, University North Hospital of Marseille, Sensgene Care Network, 13915 Marseille, France.
Smirnov V; Department of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, Sensgene Care Network, 59045 Lille, France.
Bocquet B; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34000 Montpellier, France.
Labesse G; Structural Biochemistry Centre, University of Montpellier, INSERM, CNRS, 34000 Montpellier, France.
Arndt C; Department of Ophthalmology, Reims University Hospital, 51000 Reims, France.
Defoort-Dhellemmes S; Department of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, Sensgene Care Network, 59045 Lille, France.
Zanlonghi X; Department of Ophthalmology, Rennes University Hospital, 35000 Rennes, France.
Hamroun D; Department of Research and Innovation, University of Montpellier, Montpellier University Hospital, 34000 Montpellier, France.
Denis D; Department of Ophthalmology, University North Hospital of Marseille, Sensgene Care Network, 13915 Marseille, France.
Picot MC; Clinical Investigation Center (CIC), Clinical Research and Epidemiology Unit (URCE), University of Montpellier, 34000 Montpellier, France.
David T; Department of Ophthalmology, University North Hospital of Marseille, Sensgene Care Network, 13915 Marseille, France.
Grunewald O; Inserm, Lille University Hospital, U1172-LilNCog-Lille Neuroscience and Cognition, University of Lille, 59045 Lille, France.
Pégart M; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34000 Montpellier, France.
Huguet H; Clinical Investigation Center (CIC), Clinical Research and Epidemiology Unit (URCE), University of Montpellier, 34000 Montpellier, France.
Roux AF; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34000 Montpellier, France.; Molecular Genetics Laboratory, University of Montpellier, Montpellier University Hospital, 34000 Montpellier, France.
Kalatzis V; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34000 Montpellier, France.
Dhaenens CM; Inserm, Lille University Hospital, U1172-LilNCog-Lille Neuroscience and Cognition, University of Lille, 59045 Lille, France.
Meunier I; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, 34000 Montpellier, France.; Institute for Neurosciences of Montpellier (INM), University of Montpellier, INSERM, 34000 Montpellier, France.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Nov 23; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 23.
Typ publikacji :
Journal Article; Multicenter Study; Observational Study
MeSH Terms :
Mutation*
Ependymoglial Cells/*pathology
Eye Proteins/*genetics
Eye Proteins/*metabolism
Macular Degeneration/*pathology
Membrane Proteins/*genetics
Membrane Proteins/*metabolism
Nerve Tissue Proteins/*genetics
Nerve Tissue Proteins/*metabolism
Retinal Dystrophies/*pathology
Retinitis Pigmentosa/*pathology
Adolescent ; Age of Onset ; Alternative Splicing ; Child ; Child, Preschool ; Ependymoglial Cells/metabolism ; Eye Proteins/chemistry ; Female ; Genetic Association Studies ; Humans ; Infant ; Macular Degeneration/genetics ; Macular Degeneration/metabolism ; Male ; Membrane Proteins/chemistry ; Models, Molecular ; Mutation, Missense ; Nerve Tissue Proteins/chemistry ; Point Mutation ; Retinal Dystrophies/genetics ; Retinal Dystrophies/metabolism ; Retinitis Pigmentosa/genetics ; Retinitis Pigmentosa/metabolism ; Retrospective Studies ; Sequence Deletion ; Young Adult
Czasopismo naukowe
Tytuł :
A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.
Autorzy :
Sanchez-Contreras M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Sweetwyne MT; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Kohrn BF; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Tsantilas KA; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.
Hipp MJ; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Schmidt EK; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Fredrickson J; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Whitson JA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Campbell MD; Department of Radiology, University of Washington, Seattle, WA 98195, USA.
Rabinovitch PS; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Marcinek DJ; Department of Radiology, University of Washington, Seattle, WA 98195, USA.
Kennedy SR; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Pokaż więcej
Źródło :
Nucleic acids research [Nucleic Acids Res] 2021 Nov 08; Vol. 49 (19), pp. 11103-11118.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
DNA Replication*
Genome, Mitochondrial*
Germ-Line Mutation*
Mutation Accumulation*
Aging/*genetics
DNA, Mitochondrial/*genetics
Mitochondria/*genetics
Aging/metabolism ; Animals ; Chromosome Mapping ; DNA Polymerase gamma/deficiency ; DNA Polymerase gamma/genetics ; DNA, Mitochondrial/metabolism ; Genetic Speciation ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mitochondria/metabolism ; Mutation Rate ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies.
Autorzy :
Fenix AM; Department of Laboratory Medicine and Pathology, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.; Center for Cardiovascular Biology, University of Washington, 850 Republican Street, Brotman Building, Seattle, WA, 98109, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, 850 Republican Street, Seattle, WA, 98109, USA.
Miyaoka Y; Regenerative Medicine Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, 156-8506, Japan.; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Bertero A; Department of Laboratory Medicine and Pathology, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.; Center for Cardiovascular Biology, University of Washington, 850 Republican Street, Brotman Building, Seattle, WA, 98109, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, 850 Republican Street, Seattle, WA, 98109, USA.
Blue SM; Department of Cellular and Molecular Medicine, Stem Cell Program, and Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Spindler MJ; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Tan KKB; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Perez-Bermejo JA; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Chan AH; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Mayerl SJ; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Nguyen TD; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Russell CR; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Lizarraga PP; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Truong A; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
So PL; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA.
Kulkarni A; Department of Electrical Engineering and Computer Science, University of Cincinnati, Cincinnati, OH, 45221, USA.; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Chetal K; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA.
Sathe S; Department of Cellular and Molecular Medicine, Stem Cell Program, and Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Sniadecki NJ; Department of Laboratory Medicine and Pathology, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA.; Center for Cardiovascular Biology, University of Washington, 850 Republican Street, Brotman Building, Seattle, WA, 98109, USA.; Institute for Stem Cell and Regenerative Medicine, University of Washington, 850 Republican Street, Seattle, WA, 98109, USA.; Department of Mechanical Engineering, University of Washington, 3720 15th Avenue NE, Seattle, WA, 98105, USA.; Department of Bioengineering, University of Washington, 3720 15th Avenue NE, Seattle, WA, 98105, USA.
Yeo GW; Department of Cellular and Molecular Medicine, Stem Cell Program, and Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Murry CE; Department of Laboratory Medicine and Pathology, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA. .; Center for Cardiovascular Biology, University of Washington, 850 Republican Street, Brotman Building, Seattle, WA, 98109, USA. .; Institute for Stem Cell and Regenerative Medicine, University of Washington, 850 Republican Street, Seattle, WA, 98109, USA. .; Department of Bioengineering, University of Washington, 3720 15th Avenue NE, Seattle, WA, 98105, USA. .; Department of Medicine/Cardiology, University of Washington, 1959 NE Pacific Street, Seattle, WA, 98195, USA. .; Sana Biotechnology, 188 E Blaine Street, Seattle, WA, 98102, USA. .
Conklin BR; Gladstone Institutes, 1650 Owens St, San Francisco, CA, 94158, USA. .; Department of Medicine, Cellular and Molecular Pharmacology, and Ophthalmology, University of California San Francisco, San Francisco, CA, 94158, USA. .
Salomonis N; Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 45229, USA. .; Department of Pediatrics, University of Cincinnati, Cincinnati, OH, 45229, USA. .
Pokaż więcej
Źródło :
Nature communications [Nat Commun] 2021 Nov 03; Vol. 12 (1), pp. 6324. Date of Electronic Publication: 2021 Nov 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Gain of Function Mutation*
Mutation*
RNA Splicing*
Cardiomyopathies/*genetics
Cardiomyopathies/*metabolism
RNA-Binding Proteins/*genetics
Ribonucleoproteins/*metabolism
Cardiomyopathy, Dilated/genetics ; DEAD-box RNA Helicases ; DNA Helicases ; Gene Knockdown Techniques ; Humans ; Induced Pluripotent Stem Cells/metabolism ; Male ; Mutation, Missense ; Poly-ADP-Ribose Binding Proteins/metabolism ; Proto-Oncogene Proteins ; RNA Helicases/metabolism ; RNA Recognition Motif Proteins/metabolism
Czasopismo naukowe
Tytuł :
Multivariate phase-type theory for the site frequency spectrum.
Autorzy :
Hobolth A; Department of Mathematics, Aarhus University, Ny Munkegade 118, building 1530, 8000, Aarhus C, Denmark. .
Bladt M; Department of Mathematical Sciences, University of Copenhagen, Universitetsparken 5, 2100, Copenhagen, Denmark.
Andersen LN; Department of Mathematics, Aarhus University, Ny Munkegade 118, building 1530, 8000, Aarhus C, Denmark.
Pokaż więcej
Źródło :
Journal of mathematical biology [J Math Biol] 2021 Nov 16; Vol. 83 (6-7), pp. 63. Date of Electronic Publication: 2021 Nov 16.
Typ publikacji :
Journal Article
MeSH Terms :
Models, Genetic*
Mutation Rate*
Genetics, Population ; Likelihood Functions ; Mutation
Czasopismo naukowe
Tytuł :
Clinical significance of TP53 mutations in adult T-cell leukemia/lymphoma.
Autorzy :
Sakamoto Y; Department of Pathology and Molecular Diagnostics, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Ishida T; Department of Immunology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Masaki A; Department of Pathology and Molecular Diagnostics, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Murase T; Department of Pathology and Molecular Diagnostics, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Takeshita M; Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Muto R; Department of Pathology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
Iwasaki H; Department of Hematology, National Hospital Organization Kyushu Medical Center, Fukuoka, Japan.
Ito A; Department of Hematology and Oncology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Kusumoto S; Department of Hematology and Oncology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Nakano N; Department of Hematology, Imamura General Hospital, Kagoshima, Japan.
Tokunaga M; Department of Hematology, Imamura General Hospital, Kagoshima, Japan.
Yonekura K; Department of Dermatology, Imamura General Hospital, Kagoshima, Japan.
Tashiro Y; Department of Pathology, Imamura General Hospital, Kagoshima, Japan.
Iida S; Department of Hematology and Oncology, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Utsunomiya A; Department of Hematology, Imamura General Hospital, Kagoshima, Japan.
Ueda R; Department of Immunology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Department of Tumor Immunology, School of Medicine, Aichi Medical University, Nagakute, Japan.
Inagaki H; Department of Pathology and Molecular Diagnostics, Graduate School of Medical Sciences, Nagoya City University, Nagoya, Japan.
Pokaż więcej
Źródło :
British journal of haematology [Br J Haematol] 2021 Nov; Vol. 195 (4), pp. 571-584. Date of Electronic Publication: 2021 Aug 17.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, p53*
Mutation*
Leukemia-Lymphoma, Adult T-Cell/*genetics
Adult ; Aged ; Aged, 80 and over ; Allografts ; Antibodies, Monoclonal, Humanized/therapeutic use ; Antineoplastic Combined Chemotherapy Protocols/administration & dosage ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; CD28 Antigens/genetics ; Carboplatin/administration & dosage ; Cyclophosphamide/administration & dosage ; DNA Copy Number Variations ; Doxorubicin/administration & dosage ; Etoposide/administration & dosage ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; INDEL Mutation ; Kaplan-Meier Estimate ; Lenalidomide/administration & dosage ; Leukemia-Lymphoma, Adult T-Cell/drug therapy ; Leukemia-Lymphoma, Adult T-Cell/mortality ; Leukemia-Lymphoma, Adult T-Cell/therapy ; Male ; Middle Aged ; Nitrosourea Compounds/administration & dosage ; Polymorphism, Single Nucleotide ; Prednisolone/administration & dosage ; Prednisone/administration & dosage ; Prognosis ; Receptors, CCR4/genetics ; Vincristine/administration & dosage ; Vindesine/administration & dosage
SCR Protocol :
VAP-cyclo protocol
Czasopismo naukowe
Tytuł :
Identification of a new 2-amino acid insertion in the integrase coding region of HIV-1 subtype G isolates.
Autorzy :
Pereira-Vaz J; Laboratory of Virology, Clinical Pathology Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Crespo P; Infectious Diseases Unit, Centro Hospitalar Tondela Viseu, Viseu, Portugal.
Mocho L; Infectious Diseases Unit, Centro Hospitalar Tondela Viseu, Viseu, Portugal.
Martinho P; Molecular Hematology Laboratory, Clinical Hematology Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Fidalgo T; Molecular Hematology Laboratory, Clinical Hematology Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Correia L; Laboratory of Virology, Clinical Pathology Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Rodrigues F; Clinical Pathology Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Duque V; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Infectious Diseases Unit, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Pokaż więcej
Źródło :
Journal of medical virology [J Med Virol] 2021 Nov; Vol. 93 (11), pp. 6388-6392. Date of Electronic Publication: 2021 Jul 21.
Typ publikacji :
Journal Article
MeSH Terms :
Frameshift Mutation*
Amino Acids/*genetics
HIV Integrase/*genetics
HIV-1/*genetics
Open Reading Frames/*genetics
Anti-Retroviral Agents/therapeutic use ; Drug Resistance, Viral/genetics ; Female ; Genotype ; HIV Infections/drug therapy ; HIV Infections/virology ; HIV Integrase Inhibitors/pharmacology ; HIV-1/classification ; Humans ; Male ; Mutation ; Phylogeny ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Cancer Mutational Processes Vary in Their Association with Replication Timing and Chromatin Accessibility.
Autorzy :
Yaacov A; The Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel.; The Wohl Institute for Translational Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Vardi O; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Blumenfeld B; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Greenberg A; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Massey DJ; Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York.
Koren A; Department of Molecular Biology and Genetics, Cornell University, Ithaca, New York.
Adar S; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Simon I; Department of Microbiology and Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. .
Rosenberg S; The Gaffin Center for Neuro-Oncology, Sharett Institute for Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel. .; The Wohl Institute for Translational Medicine, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Pokaż więcej
Źródło :
Cancer research [Cancer Res] 2021 Dec 15; Vol. 81 (24), pp. 6106-6116. Date of Electronic Publication: 2021 Oct 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromatin Assembly and Disassembly*
DNA Replication*
Genome, Human*
Mutation*
Biomarkers, Tumor/*genetics
Neoplasms/*genetics
Humans ; Mutation Accumulation ; Neoplasms/pathology
Czasopismo naukowe
Tytuł :
Assessment of intercontinents mutation hotspots and conserved domains within SARS-CoV-2 genome.
Autorzy :
Omotoso OE; Cancer Research and Molecular Biology Laboratories, Department of Biochemistry, University of Ibadan, Ibadan, Nigeria.
Olugbami JO; Cancer Research and Molecular Biology Laboratories, Department of Biochemistry, University of Ibadan, Ibadan, Nigeria.
Gbadegesin MA; Cancer Research and Molecular Biology Laboratories, Department of Biochemistry, University of Ibadan, Ibadan, Nigeria.. Electronic address: .
Pokaż więcej
Źródło :
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases [Infect Genet Evol] 2021 Dec; Vol. 96, pp. 105097. Date of Electronic Publication: 2021 Oct 01.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
SARS-CoV-2/*genetics
Viral Proteins/*genetics
Africa ; Americas ; Asia ; Coronavirus Nucleocapsid Proteins/genetics ; Europe ; Genome, Viral ; Humans ; Mutation Rate ; Oceania ; RNA-Dependent RNA Polymerase/genetics ; Spike Glycoprotein, Coronavirus/genetics
Czasopismo naukowe
Tytuł :
Identification and characterization of SARS-CoV-2 clusters in the EU/EEA in the first pandemic wave: additional elements to trace the route of the virus.
Autorzy :
Faggioni G; Scientific Department, Army Medical Center, Rome, Italy. Electronic address: .
Stefanelli P; Department of Infectious Diseases, Istituto Superiore di Sanità, Rome, Italy.
Giordani F; Scientific Department, Army Medical Center, Rome, Italy.
Fillo S; Scientific Department, Army Medical Center, Rome, Italy.
Anselmo A; Scientific Department, Army Medical Center, Rome, Italy.
Vera Fain V; Scientific Department, Army Medical Center, Rome, Italy.
Fortunato A; Scientific Department, Army Medical Center, Rome, Italy.
Petralito G; Scientific Department, Army Medical Center, Rome, Italy.
Molinari F; Scientific Department, Army Medical Center, Rome, Italy.
Lo Presti A; Department of Infectious Diseases, Istituto Superiore di Sanità, Rome, Italy.
Di Martino A; Department of Infectious Diseases, Istituto Superiore di Sanità, Rome, Italy.
Palomba S; General Directorate of Military Medical Services, Medical Situation Awareness Branch, Rome, Italy.
De Santis R; Scientific Department, Army Medical Center, Rome, Italy.
Rezza G; Health Prevention Directorate, Ministry of Health, Rome, Italy.
Lista F; Scientific Department, Army Medical Center, Rome, Italy.
Pokaż więcej
Źródło :
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases [Infect Genet Evol] 2021 Dec; Vol. 96, pp. 105108. Date of Electronic Publication: 2021 Oct 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Phylogeny*
COVID-19/*epidemiology
COVID-19/*virology
SARS-CoV-2/*genetics
Europe/epidemiology ; Genome, Viral ; Humans ; Italy/epidemiology ; Mutation Rate
SCR Organism :
SARS-CoV-2 variants
Czasopismo naukowe
Tytuł :
BRCA Mutations in Prostate Cancer: Assessment, Implications and Treatment Considerations.
Autorzy :
Shah S; Department of Palliative Care, Guy's and St Thomas' Hospital, Great Maze Pond, London SE1 9RT, UK.
Rachmat R; Department of Radiology, Guy's and St Thomas' Hospital, Great Maze Pond, London SE1 9RT, UK.
Enyioma S; Department of Medical Oncology, Medway NHS Foundation Trust, Windmill Road, Gillingham ME7 5NY, UK.
Ghose A; Department of Medical Oncology, Barts Cancer Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, W Smithfield, London EC1A 7BE, UK.; Faculty of Life Sciences & Medicine, King's College London, London WC2R 2LS, UK.
Revythis A; Department of Medical Oncology, Medway NHS Foundation Trust, Windmill Road, Gillingham ME7 5NY, UK.
Boussios S; Department of Medical Oncology, Medway NHS Foundation Trust, Windmill Road, Gillingham ME7 5NY, UK.; School of Cancer & Pharmaceutical Sciences, Faculty of Life Sciences & Medicine, King's College London, London SE1 9RT, UK.; AELIA Organization, 9th Km Thessaloniki-Thermi, 57001 Thessaloniki, Greece.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Nov 23; Vol. 22 (23). Date of Electronic Publication: 2021 Nov 23.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Prostatic Neoplasms/*genetics
Clinical Trials as Topic ; DNA Damage/drug effects ; DNA Repair ; Germ-Line Mutation ; Humans ; Male ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/therapeutic use ; Prostatic Neoplasms/drug therapy
Czasopismo naukowe
Tytuł :
De novo germline mutation in the dual specificity phosphatase 10 gene accelerates autoimmune diabetes.
Autorzy :
Foray AP; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Candon S; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Hildebrand S; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Marquet C; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Valette F; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Pecquet C; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Lemoine S; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Langa-Vives F; Mouse Genetics Engineering Center, Institut Pasteur, 75724 Paris, France.
Dumas M; CNRS UMR7242, Biotechnology and Cell Signaling, University of Strasbourg, 67412 Illkirch Cedex, France.
Hu P; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Santamaria P; Julia McFarlane Diabetes Research Centre, Department of Microbiology, Immunology, and Infectious Diseases, Snyder Institute for Chronic Diseases and Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary AB T2N 4N1, Canada.; Consolidated Group of the Generalitat, Institut D'Investigacions Biomèdiques August Pi i Sunyer, 08036 Barcelona, Spain.
You S; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Lyon S; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Scott L; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Bu CH; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Wang T; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.; Quantitative Biomedical Research Center, Department of Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Xu D; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Moresco EMY; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Scazzocchio C; Section of Microbiology, Department of Infectious Diseases, Imperial College London, London SW7 2AZ, United Kingdom.; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France.
Bach JF; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France; .; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Beutler B; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390; .
Chatenoud L; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France; .; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Pokaż więcej
Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Nov 23; Vol. 118 (47).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Diabetes Mellitus, Type 1/*genetics
Diabetes Mellitus, Type 1/*immunology
Dual-Specificity Phosphatases/*genetics
Genetic Predisposition to Disease/*genetics
Animals ; Autoimmune Diseases/genetics ; Female ; Genome-Wide Association Study ; Haplotypes ; Humans ; Islets of Langerhans/metabolism ; Major Histocompatibility Complex ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Inbred NOD ; Mitogen-Activated Protein Kinase Phosphatases ; Mutation
Czasopismo naukowe
Tytuł :
Recurrent mutations promote widespread structural and functional divergence of MULE-derived genes in plants.
Autorzy :
Young Chae G; Department of Environmental Horticulture, University of Seoul, Seoul 02504, Republic of Korea.
Hong WJ; Graduate School of Biotechnology and Crop Biotech Institute, Kyung Hee University, Yongin 17104, Republic of Korea.
Jeong Jang M; Department of Environmental Horticulture, University of Seoul, Seoul 02504, Republic of Korea.
Jung KH; Graduate School of Biotechnology and Crop Biotech Institute, Kyung Hee University, Yongin 17104, Republic of Korea.
Kim S; Department of Environmental Horticulture, University of Seoul, Seoul 02504, Republic of Korea.
Pokaż więcej
Źródło :
Nucleic acids research [Nucleic Acids Res] 2021 Nov 18; Vol. 49 (20), pp. 11765-11777.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Speciation*
Mutation Rate*
Plant Proteins/*genetics
DNA Transposable Elements/genetics ; Frameshift Mutation ; Gene Duplication ; Oryza/genetics ; Plant Proteins/chemistry ; Plant Proteins/metabolism ; Sequence Homology ; Transcriptome
Czasopismo naukowe
Tytuł :
PhosphoFlowSeq - A High-throughput Kinase Activity Assay for Screening Drug Resistance Mutations in EGFR.
Autorzy :
Wagner A; Department of Chemistry, Institute of Biochemistry, University of Natural Resources and Life Sciences, Vienna, Austria; Department of Biotechnology, Institute of Molecular Biotechnology, University of Natural Resources and Life Sciences, Vienna, Austria.
Teufl M; Department of Chemistry, Institute of Biochemistry, University of Natural Resources and Life Sciences, Vienna, Austria.
Gold L; Department of Chemistry, Institute of Biochemistry, University of Natural Resources and Life Sciences, Vienna, Austria.
Lehner M; St. Anna Children's Cancer Research Institute, Vienna, Austria; Department of Pediatrics, St. Anna Kinderspital, Medical University of Vienna, Vienna, Austria.
Obinger C; Department of Chemistry, Institute of Biochemistry, University of Natural Resources and Life Sciences, Vienna, Austria.
Sykacek P; Department of Biotechnology, Institute for Computational Biology, University of Natural Resources and Life Sciences, Vienna, Austria.
Traxlmayr MW; Department of Chemistry, Institute of Biochemistry, University of Natural Resources and Life Sciences, Vienna, Austria. Electronic address: .
Pokaż więcej
Źródło :
Journal of molecular biology [J Mol Biol] 2021 Nov 05; Vol. 433 (22), pp. 167210. Date of Electronic Publication: 2021 Sep 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Drug Resistance, Neoplasm/*genetics
High-Throughput Screening Assays/*methods
Drug Resistance, Neoplasm/drug effects ; ErbB Receptors/antagonists & inhibitors ; ErbB Receptors/genetics ; ErbB Receptors/metabolism ; Erlotinib Hydrochloride/pharmacology ; HEK293 Cells ; Humans ; Mutation Rate ; Phosphorylation/genetics ; Protein Kinase Inhibitors/pharmacology
Czasopismo naukowe
Tytuł :
Inhibition of histone acetyltransferase function radiosensitizes CREBBP/EP300 mutants via repression of homologous recombination, potentially targeting a gain of function.
Autorzy :
Kumar M; Department of Biochemistry, All India Institute of Medical Sciences (AIIMS), Bilaspur, Himachal Pradesh, India.
Molkentine D; Department of Radiation Oncology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA.
Molkentine J; Department of Radiation Oncology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA.
Bridges K; Department of Experimental Radiation Oncology, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Xie T; Department of Head and Neck Surgery, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Yang L; Department of Experimental Radiation Oncology, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Hefner A; Department of Radiation Oncology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA.
Gao M; Department of Head and Neck Surgery, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Bahri R; Department of Radiation Oncology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA.
Dhawan A; Department of Radiation Oncology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA.
Frederick MJ; Department of Otolaryngology-Head & Neck Surgery, Baylor College of Medicine, Houston, TX, USA.
Seth S; TRACTION Platform, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Abdelhakiem M; Department of Radiation Oncology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA.
Beadle BM; Department of Radiation Oncology, Stanford University, Stanford, CA, USA.
Johnson F; Department of Thoracic and Head and Neck Medical Oncology, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.; The University of Texas Graduate School of Biomedical Sciences, Houston, TX, USA.
Wang J; The University of Texas Graduate School of Biomedical Sciences, Houston, TX, USA.; Department of Biostatistics, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Shen L; Department of Biostatistics, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Heffernan T; TRACTION Platform, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.
Sheth A; Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
Ferris RL; Department of Otolaryngology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA.
Myers JN; Department of Head and Neck Surgery, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.; The University of Texas Graduate School of Biomedical Sciences, Houston, TX, USA.
Pickering CR; Department of Head and Neck Surgery, University of Texas, MD Anderson Cancer Center, Houston, TX, USA.; The University of Texas Graduate School of Biomedical Sciences, Houston, TX, USA.
Skinner HD; Department of Radiation Oncology, University of Pittsburgh, UPMC Hillman Cancer Center, Pittsburgh, PA, USA. .
Pokaż więcej
Źródło :
Nature communications [Nat Commun] 2021 Nov 03; Vol. 12 (1), pp. 6340. Date of Electronic Publication: 2021 Nov 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Gain of Function Mutation*
Homologous Recombination*
CREB-Binding Protein/*genetics
CREB-Binding Protein/*metabolism
E1A-Associated p300 Protein/*genetics
E1A-Associated p300 Protein/*metabolism
Histone Acetyltransferases/*metabolism
Acetylation ; Animals ; Apoptosis ; BRCA1 Protein/metabolism ; Biomarkers, Tumor ; Cell Line, Tumor ; Histone Acetyltransferases/chemistry ; Histone Acetyltransferases/genetics ; Humans ; Male ; Mice, Nude ; Mutation ; Neoplasms/genetics ; Neoplasms/therapy ; Protein Domains ; Squamous Cell Carcinoma of Head and Neck/genetics ; Squamous Cell Carcinoma of Head and Neck/metabolism ; Xenograft Model Antitumor Assays
Czasopismo naukowe
Tytuł :
Male hypogonadism caused by a homozygous missense mutation of the LHB gene.
Autorzy :
Chen J; Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
Yi WT; Laboratory Medicine, Yantai Affiliated Hospital, Binzhou Medical University, Yantai, China.
Cui YQ; Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
Wang WT; Central Laboratory, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
Wang X; Reproductive Medicine Center, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.
Pokaż więcej
Źródło :
The Korean journal of internal medicine [Korean J Intern Med] 2021 Nov; Vol. 36 (6), pp. 1527-1529. Date of Electronic Publication: 2021 Oct 12.
Typ publikacji :
Journal Article
MeSH Terms :
Hypogonadism*/diagnosis
Hypogonadism*/genetics
Mutation, Missense*
Homozygote ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
Comparison of the effects between MPL and JAK2V617F on thrombosis and peripheral blood cell counts in patients with essential thrombocythemia: a meta-analysis.
Autorzy :
Yang E; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.; Graduate School of China Academy of Chinese Medical Sciences, Beijing, 100700, China.
Wang M; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.; Graduate School of China Academy of Chinese Medical Sciences, Beijing, 100700, China.
Wang Z; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.; Xiyuan Clinical Medical College of Beijing University of Traditional Chinese Medicine, Beijing, 100029, China.
Li Y; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.; Graduate School of China Academy of Chinese Medical Sciences, Beijing, 100700, China.
Wang X; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.; Xiyuan Clinical Medical College of Beijing University of Traditional Chinese Medicine, Beijing, 100029, China.
Ming J; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.
Xiao H; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.
Quan R; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China.
Liu W; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China. .
Hu X; Department of Haematology, Xiyuan Hospital of China Academy of Chinese Medical Sciences, No.1 Xiyuan Caochang Road, Haidian District, Beijing, 100091, China. .
Pokaż więcej
Źródło :
Annals of hematology [Ann Hematol] 2021 Nov; Vol. 100 (11), pp. 2699-2706. Date of Electronic Publication: 2021 Aug 12.
Typ publikacji :
Comparative Study; Journal Article; Meta-Analysis
MeSH Terms :
Blood Cell Count*
Mutation*
Janus Kinase 2/*genetics
Receptors, Thrombopoietin/*genetics
Thrombocythemia, Essential/*genetics
Thrombosis/*etiology
Humans ; Mutation, Missense ; Prospective Studies ; Retrospective Studies ; Risk Factors ; Thrombocythemia, Essential/blood ; Thrombocythemia, Essential/complications ; Thrombosis/blood ; Thrombosis/epidemiology
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies