Autor: "Chen, R." - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory.
Autorzy:: Rosenthal SH; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Gerasimova A; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Ruiz-Vega R; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Livingston K; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Kagan RM; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA. .
Liu Y; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Anderson B; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Owen R; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Bernstein L; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Smolgovsky A; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Xu D; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Chen R; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Grupe A; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Tanpaiboon P; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA.
Lacbawan F; Quest Diagnostics, San Juan Capistrano, CA, 92675, USA. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2022 Feb 08; Vol. 12 (1), pp. 2054. Date of Electronic Publication: 2022 Feb 08.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms:: Genome, Viral*
Mutation*
Whole Genome Sequencing*
COVID-19/*genetics
SARS-CoV-2/*genetics
Humans

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Skocz do pozycji: 2.

Tytuł:: Genetic and treatment profiles of patients with concurrent Epidermal Growth Factor Receptor (EGFR) and Anaplastic Lymphoma Kinase (ALK) mutations.
Autorzy:: Yang X; Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Thoracic Medical Oncology, Peking University Cancer Hospital & Institute, No.52, Fucheng Road, Haidian district, Beijing, China.
Zhong J; Department of Medical Oncology, National Cancer Center/National Clinical Research Center for Cancer/Cancer hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Yu Z; Beijing Tsinghua Changgung Hospital, Beijing, 102218, China.
Zhuo M; Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Thoracic Medical Oncology, Peking University Cancer Hospital & Institute, No.52, Fucheng Road, Haidian district, Beijing, China.
Zhang M; GenePlus-Beijing, Beijing, 102206, China.
Chen R; GenePlus-Beijing, Beijing, 102206, China.
Xia X; GenePlus-Beijing, Beijing, 102206, China.
Zhao J; Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Thoracic Medical Oncology, Peking University Cancer Hospital & Institute, No.52, Fucheng Road, Haidian district, Beijing, China. .; Pokaż więcej
Źródło:: BMC cancer [BMC Cancer] 2021 Oct 15; Vol. 21 (1), pp. 1107. Date of Electronic Publication: 2021 Oct 15.
Typ publikacji:: Journal Article; Multicenter Study
MeSH Terms:: Genes, erbB-1*
Anaplastic Lymphoma Kinase/*genetics
Lung Neoplasms/*genetics
Mutation/*genetics
Acrylamides/therapeutic use ; Afatinib/therapeutic use ; Aged ; Aniline Compounds/therapeutic use ; Antineoplastic Agents/therapeutic use ; Confidence Intervals ; Drug Resistance, Neoplasm/genetics ; Gefitinib/therapeutic use ; High-Throughput Nucleotide Sequencing ; Humans ; Lung Neoplasms/drug therapy ; Lung Neoplasms/mortality ; Middle Aged ; Progression-Free Survival ; Protein Kinase Inhibitors/therapeutic use ; Retrospective Studies ; Survival Analysis

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Skocz do pozycji: 3.

Tytuł:: Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms.
Autorzy:: Rosenthal SH; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Gerasimova A; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Ma C; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Li HR; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Grupe A; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Chong H; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Acab A; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Smolgovsky A; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Owen R; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Elzinga C; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Chen R; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Sugganth D; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Freitas T; Department of Molecular Oncology, Med Fusion, Lewisville, TX, United States of America.
Graham J; Department of Molecular Oncology, Med Fusion, Lewisville, TX, United States of America.
Champion K; Department of Molecular Oncology, Med Fusion, Lewisville, TX, United States of America.
Bhattacharya A; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Racke F; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.
Lacbawan F; Department of Advanced Diagnostics, Quest Diagnostics, San Juan Capistrano, CA, United States of America.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2021 Apr 28; Vol. 16 (4), pp. e0243683. Date of Electronic Publication: 2021 Apr 28 (Print Publication: 2021).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms:: Hematologic Neoplasms*/genetics
Hematologic Neoplasms*/metabolism
High-Throughput Nucleotide Sequencing*
Leukemia, Myeloid, Acute*/genetics
Leukemia, Myeloid, Acute*/metabolism
Mutation*
Myelodysplastic Syndromes*/genetics
Myelodysplastic Syndromes*/metabolism
Neoplasm Proteins*/genetics
Neoplasm Proteins*/metabolism
Humans

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Skocz do pozycji: 4.

Tytuł:: Oncogenic mutations within the β3-αC loop of EGFR/ERBB2/BRAF/MAP2K1 predict response to therapies.
Autorzy:: Zhang B; Department of Thoracic Surgery, The First Affiliated Hospital of Soochow University, Suzhou, China.
Chen Y; Geneplus-Beijing, Beijing, China.; Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Dai P; Geneplus-Beijing, Beijing, China.; Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Yu H; Department of Respiratory Medicine, Wuxi People's Hospital, Wuxi, China.
Ma J; Geneplus-Beijing, Beijing, China.
Chen C; Geneplus-Beijing, Beijing, China.; Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Zhang Y; Geneplus-Beijing, Beijing, China.; Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Guan Y; Geneplus-Beijing, Beijing, China.; Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Chen R; Geneplus-Beijing, Beijing, China.
Liu T; Geneplus-Beijing, Beijing, China.; Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Wang J; Department of Computer Science and Technology, School of Electronic and Information Engineering, Xi'an Jiaotong University, Xi'an, China.
Yang L; Geneplus-Beijing, Beijing, China.
Yi X; Geneplus-Beijing, Beijing, China.
Xia X; Geneplus-Beijing, Beijing, China.
Ma H; Department of Thoracic Surgery, The First Affiliated Hospital of Soochow University, Suzhou, China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Oct; Vol. 8 (10), pp. e1395. Date of Electronic Publication: 2020 Aug 05.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Drug Resistance, Neoplasm*
Mutation*
MAP Kinase Kinase 1/*genetics
Neoplasms/*genetics
Proto-Oncogene Proteins B-raf/*genetics
Receptor, ErbB-2/*genetics
Antineoplastic Agents/therapeutic use ; Conserved Sequence ; ErbB Receptors/antagonists & inhibitors ; ErbB Receptors/chemistry ; ErbB Receptors/genetics ; Humans ; MAP Kinase Kinase 1/antagonists & inhibitors ; MAP Kinase Kinase 1/chemistry ; Neoplasms/drug therapy ; Protein Domains ; Protein Kinase Inhibitors/therapeutic use ; Proto-Oncogene Proteins B-raf/antagonists & inhibitors ; Proto-Oncogene Proteins B-raf/chemistry ; Receptor, ErbB-2/antagonists & inhibitors ; Receptor, ErbB-2/chemistry

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Skocz do pozycji: 5.

Tytuł:: Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).
Autorzy:: Liu J; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.; State Key Laboratory of Respiratory Diseases, Guangzhou, Guangdong, China.; National Clinical Research Center for Respiratory Disease, Guangzhou, Guangdong, China.
Zhao W; Guangzhou KingMed Diagnostics Group Co., Ltd, Guangzhou, Guangdong, China.; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.; KingMed College of Laboratory Medicine, Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou KingMed Translational Medicine Institute Co., Ltd, Guangzhou, Guangdong, China.
Ou X; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.; Guangzhou KingMed Translational Medicine Institute Co., Ltd, Guangzhou, Guangdong, China.
Zhao Z; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.; Guangzhou KingMed Translational Medicine Institute Co., Ltd, Guangzhou, Guangdong, China.
Hu C; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.
Sun M; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.; Guangzhou KingMed Translational Medicine Institute Co., Ltd, Guangzhou, Guangdong, China.
Liu F; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.; Guangzhou KingMed Translational Medicine Institute Co., Ltd, Guangzhou, Guangdong, China.
Deng J; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.
Gu W; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.
An J; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.
Zhang Q; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.; State Key Laboratory of Respiratory Diseases, Guangzhou, Guangdong, China.; National Clinical Research Center for Respiratory Disease, Guangzhou, Guangdong, China.
Zhang X; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.
Xie J; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.; State Key Laboratory of Respiratory Diseases, Guangzhou, Guangdong, China.; National Clinical Research Center for Respiratory Disease, Guangzhou, Guangdong, China.
Li S; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.; State Key Laboratory of Respiratory Diseases, Guangzhou, Guangdong, China.; National Clinical Research Center for Respiratory Disease, Guangzhou, Guangdong, China.
Chen R; Department of Pulmonary and Critical Care Medicine, Shenzhen People's Hospital, Shenzhen, Guangdong, China.
Yu S; Guangzhou KingMed Diagnostics Group Co., Ltd, Guangzhou, Guangdong, China.; Clinical Genome Center, KingMed Center for Clinical Laboratory Co., Ltd, Guangzhou, Guangdong, China.; KingMed College of Laboratory Medicine, Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou KingMed Translational Medicine Institute Co., Ltd, Guangzhou, Guangdong, China.; KingMed JianShi Innovation Institute (Guangzhou) Co., Ltd, Guangzhou, Guangdong, China.
Zhong N; Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China.; Guangzhou Institute for Respiratory Health, Guangzhou, Guangdong, China.; State Key Laboratory of Respiratory Diseases, Guangzhou, Guangdong, China.; National Clinical Research Center for Respiratory Disease, Guangzhou, Guangdong, China.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2019 Dec 19; Vol. 14 (12), pp. e0226400. Date of Electronic Publication: 2019 Dec 19 (Print Publication: 2019).
Typ publikacji:: Journal Article
MeSH Terms:: Mutation*
Lymphangioleiomyomatosis/*genetics
Tuberous Sclerosis Complex 1 Protein/*genetics
Tuberous Sclerosis Complex 2 Protein/*genetics
Adult ; China ; DNA Copy Number Variations ; Female ; Humans ; Lymphangioleiomyomatosis/diagnostic imaging ; Lymphangioleiomyomatosis/pathology ; Polymorphism, Single Nucleotide

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Skocz do pozycji: 6.

Tytuł:: The integration of metabolome and proteome reveals bioactive polyphenols and hispidin in ARTP mutagenized Phellinus baumii.
Autorzy:: Zhang H; Institute of Edible Fungi, Shanghai Academy of Agricultural Sciences; National Engineering Research Center of Edible Fungi, Key Laboratory of Edible Fungi Resources and Utilization (South), Ministry of Agriculture, Shanghai, 201403, China.
Chen R; Department of Pharmaceutical Botany, School of Pharmacy, Second Military Medical University, Shanghai, China.
Zhang J; Institute of Edible Fungi, Shanghai Academy of Agricultural Sciences; National Engineering Research Center of Edible Fungi, Key Laboratory of Edible Fungi Resources and Utilization (South), Ministry of Agriculture, Shanghai, 201403, China.
Bu Q; Department of Pharmaceutical Botany, School of Pharmacy, Second Military Medical University, Shanghai, China.
Wang W; Institute of Edible Fungi, Shanghai Academy of Agricultural Sciences; National Engineering Research Center of Edible Fungi, Key Laboratory of Edible Fungi Resources and Utilization (South), Ministry of Agriculture, Shanghai, 201403, China.
Liu Y; Institute of Edible Fungi, Shanghai Academy of Agricultural Sciences; National Engineering Research Center of Edible Fungi, Key Laboratory of Edible Fungi Resources and Utilization (South), Ministry of Agriculture, Shanghai, 201403, China.
Li Q; Department of Pharmacy, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.
Guo Y; Department of Pharmaceutical Botany, School of Pharmacy, Second Military Medical University, Shanghai, China.
Zhang L; Department of Pharmaceutical Botany, School of Pharmacy, Second Military Medical University, Shanghai, China. .; State Key Laboratory of Subtropical Silviculture, Zhejiang A&F University, Hangzhou, Zhejiang, 311300, China. .
Yang Y; Institute of Edible Fungi, Shanghai Academy of Agricultural Sciences; National Engineering Research Center of Edible Fungi, Key Laboratory of Edible Fungi Resources and Utilization (South), Ministry of Agriculture, Shanghai, 201403, China. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2019 Nov 07; Vol. 9 (1), pp. 16172. Date of Electronic Publication: 2019 Nov 07.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Basidiomycota*/genetics
Basidiomycota*/metabolism
Metabolome*
Mutagenesis*
Mutation*
Proteome*
Polyphenols/*metabolism
Pyrones/*metabolism

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Skocz do pozycji: 7.

Tytuł:: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits.
Autorzy:: Glicksberg BS; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, 94158, CA, USA.
Amadori L; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Akers NK; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Sukhavasi K; Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia.
Franzén O; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Novum, 14157, Huddinge, Sweden.
Li L; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Belbin GM; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Ayers KL; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA.
Shameer K; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Badgeley MA; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Johnson KW; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Readhead B; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Darrow BJ; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Kenny EE; Charles Bronfman Institute of Personalized Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Preventive Medicine, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Betsholtz C; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85, Uppsala, Sweden.
Ermel R; Department of Cardiac Surgery, Tartu University Hospital, 1a Ludwig Puusepa Street, 50406, Tartu, Estonia.
Skogsberg J; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset Huddinge, 141 86, Stockholm, Sweden.
Ruusalepp A; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Department of Immunology, Genetics and Pathology, Uppsala University, 751 85, Uppsala, Sweden.
Schadt EE; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA.
Dudley JT; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; The Institute for Next Generation Healthcare, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Department of Health Policy and Research, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Ren H; Department of Pediatrics, Herman B Wells Center for Pediatric Research, Center for Diabetes and Metabolic Diseases, Stark Neurosciences Research Institute, Indiana University, 635 Barnhill Dr., MS2049, Indianapolis, IN, 46202, USA.
Kovacic JC; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Giannarelli C; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.; Cardiovascular Research Center and Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA.
Li SD; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. .
Björkegren JLM; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. .; Department of Pathophysiology, Institute of Biomedicine and Translation Medicine, University of Tartu, Biomeedikum, Ravila 19, 50411, Tartu, Estonia. .; Clinical Gene Networks AB, Jungfrugatan 10, 114 44, Stockholm, Sweden. .; Integrated Cardio Metabolic Centre, Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset Huddinge, 141 86, Stockholm, Sweden. .
Chen R; Department of Genetics and Genomic Sciences, The Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, 10029, USA. rong.chen@mssm.edu.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. rong.chen@mssm.edu.; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2019 Jul 25; Vol. 12 (Suppl 6), pp. 108. Date of Electronic Publication: 2019 Jul 25.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Genomics*
Mutation*
Cardiovascular Diseases/*genetics
Cardiovascular Diseases/blood ; Cholesterol/blood ; Genotype ; Humans ; Triglycerides/blood

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Skocz do pozycji: 8.

Tytuł:: Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
Autorzy:: Li H; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
Jones EM; b Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.
Li H; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
Yang L; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
Sun Z; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
Yuan Z; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
Chen R; b Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.
Dong F; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.
Sui R; a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2018 Oct; Vol. 39 (5), pp. 569-576. Date of Electronic Publication: 2018 Jun 28.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Asian People/*genetics
GTP Phosphohydrolases/*genetics
Optic Atrophy, Autosomal Dominant/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Infant ; Male ; Middle Aged ; Optic Atrophy, Autosomal Dominant/pathology ; Pedigree ; Prognosis ; Young Adult

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Skocz do pozycji: 9.

Tytuł:: The full-length genomic sequence of a novel HLA-C*07 allele, HLA-C*07:63, identified in a Chinese individual.
Autorzy:: Gao SQ; Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, Guangdong, China.
Tong GD; Department of Liver Disease, Shenzhen Chinese Medicine Hospital, Shenzhen, Guangdong, China.
Chen RZ; Department of Liver Disease, Shenzhen Chinese Medicine Hospital, Shenzhen, Guangdong, China.; Pokaż więcej
Źródło:: HLA [HLA] 2018 Jun; Vol. 91 (6), pp. 539-541.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Asian People*
Genome/*genetics
HLA-C Antigens/*genetics
Mutation/*genetics
Alleles ; China ; Histocompatibility Testing ; Humans ; Polymorphism, Genetic ; Sequence Alignment ; Sequence Analysis, DNA ; World Health Organization

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Skocz do pozycji: 10.

Tytuł:: Amino-Acid Network Clique Analysis of Protein Mutation Non-Additive Effects: A Case Study of Lysozme.
Autorzy:: Ming D; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Biotech Building Room B1-404, 30 South Puzhu Road, Nanjing 211816, Jiangsu, China. .
Chen R; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Biotech Building Room B1-404, 30 South Puzhu Road, Nanjing 211816, Jiangsu, China. .
Huang H; College of Biotechnology and Pharmaceutical Engineering, Nanjing Tech University, Biotech Building Room B1-404, 30 South Puzhu Road, Nanjing 211816, Jiangsu, China. .; College of Pharmaceutical Sciences, Nanjing Tech University, 30 Puzhu South Road, Nanjing 211816, Jiangsu, China. .; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2018 May 10; Vol. 19 (5). Date of Electronic Publication: 2018 May 10.
Typ publikacji:: Journal Article
MeSH Terms:: Protein Engineering*
Amino Acids/*genetics
Muramidase/*genetics
Mutation/*genetics
Amino Acid Sequence/genetics ; Amino Acids/chemistry ; Bacteriophage T4/enzymology ; Bacteriophage T4/genetics ; Muramidase/chemistry ; Thermodynamics

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Skocz do pozycji: 11.

Tytuł:: Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.
Autorzy:: DuPont M; a College of Arts and Sciences , Dillard University , New Orleans , LA , USA.
Jones EM; b Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.; c Human Genome Sequencing Center , Baylor College of Medicine , Houston , TX , USA.
Xu M; b Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.; c Human Genome Sequencing Center , Baylor College of Medicine , Houston , TX , USA.
Chen R; b Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , TX , USA.; c Human Genome Sequencing Center , Baylor College of Medicine , Houston , TX , USA.; Pokaż więcej
Źródło:: Ophthalmic genetics [Ophthalmic Genet] 2018 Apr; Vol. 39 (2), pp. 291-292. Date of Electronic Publication: 2017 Dec 28.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Extracellular Matrix Proteins/*genetics
Genetic Variation/*genetics
Mutation/*genetics
Retinitis Pigmentosa/*genetics
Cohort Studies ; Gene Frequency ; Humans ; RNA, Messenger/genetics ; Retinitis Pigmentosa/diagnosis

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Skocz do pozycji: 12.

Tytuł:: Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.
Autorzy:: Li SD; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA.
Ma M; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA.
Li H; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA.
Waluszko A; Department of Pathology and Laboratory Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Sidorenko T; Department of Pathology and Laboratory Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Schadt EE; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA.
Zhang DY; Department of Pathology and Laboratory Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Chen R; Department of Genetics and Genomic Sciences, Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. rong.chen@mssm.edu.; Sema4, a Mount Sinai venture, Stamford, CT, 06902, USA. rong.chen@mssm.edu.
Ye F; Department of Pathology and Laboratory Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA. .; Department of Pathology, New York Medical College, Valhalla, NY, 10595, USA. .; Pokaż więcej
Źródło:: Genome medicine [Genome Med] 2017 Oct 30; Vol. 9 (1), pp. 89. Date of Electronic Publication: 2017 Oct 30.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: High-Throughput Nucleotide Sequencing*
Mutation*
Transcriptome*
Carcinoma, Non-Small-Cell Lung/*genetics
Janus Kinase 2/*genetics
Janus Kinase 3/*genetics
Lung Neoplasms/*genetics
Antineoplastic Agents/therapeutic use ; Carcinoma, Non-Small-Cell Lung/enzymology ; Carcinoma, Non-Small-Cell Lung/therapy ; Enzyme Inhibitors/therapeutic use ; Germ-Line Mutation ; Humans ; Immunotherapy ; Janus Kinase 2/antagonists & inhibitors ; Janus Kinase 3/antagonists & inhibitors ; Lung Neoplasms/enzymology ; Lung Neoplasms/therapy ; Programmed Cell Death 1 Receptor/immunology

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na półce

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Skocz do pozycji: 13.

Tytuł:: Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism.
Autorzy:: Chen R; Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN USA.; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN USA.
Davis LK; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN USA.; Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN USA.
Guter S; Department of Psychiatry, University of Illinois at Chicago, Chicago, IL USA.
Wei Q; Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN USA.; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN USA.
Jacob S; Department of Psychiatry, University of Minnesota, Minneapolis, MN USA.
Potter MH; Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN USA.; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN USA.
Cox NJ; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN USA.; Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN USA.
Cook EH; Department of Psychiatry, University of Illinois at Chicago, Chicago, IL USA.
Sutcliffe JS; Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN USA.; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN USA.
Li B; Molecular Physiology & Biophysics, Vanderbilt University, Nashville, TN USA.; Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN USA.; Pokaż więcej
Źródło:: Molecular autism [Mol Autism] 2017 Mar 21; Vol. 8, pp. 14. Date of Electronic Publication: 2017 Mar 21 (Print Publication: 2017).
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Autism Spectrum Disorder/*genetics
Forkhead Transcription Factors/*genetics
Jumonji Domain-Containing Histone Demethylases/*genetics
Nuclear Proteins/*genetics
Repressor Proteins/*genetics
Serotonin/*blood
Ubiquitin-Specific Proteases/*genetics
Autism Spectrum Disorder/metabolism ; Endophenotypes/blood ; Exome ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Sequence Analysis, DNA/methods ; Signal Transduction

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Skocz do pozycji: 14.

Tytuł:: Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients.
Autorzy:: Zhang Y; The Metabolic Diseases Biobank, Center for Translational Medicine, Shanghai Key Laboratory of Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Du X; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Geng X; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Chu C; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Lu H; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Shen Y; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Chen R; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Fang P; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Feng Y; Department of Otolaryngology Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Zhang X; Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Chen Y; Department of Ophthalmology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Zhou Y; Department of Ophthalmology, Shanghai First People's Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai 200080, China.
Wang C; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.
Jia W; Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.; Pokaż więcej
Źródło:: Journal of diabetes research [J Diabetes Res] 2017; Vol. 2017, pp. 4683857. Date of Electronic Publication: 2017 Jun 21.
Typ publikacji:: Journal Article
MeSH Terms:: Mutation*
Diabetes Mellitus, Type 2/*genetics
RNA, Transfer, Leu/*genetics
Aged ; Asian People/genetics ; China ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged

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Skocz do pozycji: 15.

Tytuł:: Characterization of Novel Hepatitis B Virus PreS/S-Gene Mutations in a Patient with Occult Hepatitis B Virus Infection.
Autorzy:: Chen J; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Liu Y; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Zhao J; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Xu Z; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Chen R; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Si L; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Lu S; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Li X; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Wang S; Department of liver disease, General Hospital of Beijing Military Region, Beijing 100700, China.
Zhang K; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Li J; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.
Han J; Department of liver disease, General Hospital of Beijing Military Region, Beijing 100700, China.
Xu D; Institute of Infectious Diseases/Research Center for Clinical and Translational Medicine, Beijing 302 Hospital, Beijing 100039, China.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2016 May 16; Vol. 11 (5), pp. e0155654. Date of Electronic Publication: 2016 May 16 (Print Publication: 2016).
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Hepatitis B/*virology
Hepatitis B Surface Antigens/*genetics
Hepatitis B virus/*genetics
Cell Line, Tumor ; DNA, Viral ; Gene Expression ; Gene Expression Regulation, Viral ; Genes, Reporter ; Hepatitis B virus/classification ; Humans ; Phylogeny ; Sequence Analysis, DNA ; Sequence Deletion ; Virus Replication/genetics

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na półce

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Skocz do pozycji: 16.

Tytuł:: Enhanced succinic acid productivity by expression of mgtCB gene in Escherichia coli mutant.
Autorzy:: Wang J; School of Chemistry and Chemical Engineering, Chongqing University, P.O. Box 94#, Shazheng Street 174, Shapingba District, Chongqing, 400044, China.
Yang L; School of Chemistry and Chemical Engineering, Chongqing University, P.O. Box 94#, Shazheng Street 174, Shapingba District, Chongqing, 400044, China.
Wang D; School of Chemistry and Chemical Engineering, Chongqing University, P.O. Box 94#, Shazheng Street 174, Shapingba District, Chongqing, 400044, China.
Dong L; School of Chemistry and Chemical Engineering, Chongqing University, P.O. Box 94#, Shazheng Street 174, Shapingba District, Chongqing, 400044, China. .
Chen R; School of Chemical and Biomolecular Engineering, Georgia Institute of Technology, Atlanta, 30332, USA. rachel.chen@chbe.gatech.edu.; Pokaż więcej
Źródło:: Journal of industrial microbiology & biotechnology [J Ind Microbiol Biotechnol] 2016 Apr; Vol. 43 (4), pp. 505-16. Date of Electronic Publication: 2015 Dec 28.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Bioreactors*
Mutation*
Bacterial Proteins/*genetics
Bacterial Proteins/*metabolism
Escherichia coli/*genetics
Succinic Acid/*metabolism
Antiporters/genetics ; Antiporters/metabolism ; Escherichia coli/metabolism ; Fermentation ; Magnesium/metabolism

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Skocz do pozycji: 17.

Tytuł:: Dual E627K and D701N mutations in the PB2 protein of A(H7N9) influenza virus increased its virulence in mammalian models.
Autorzy:: Zhu W; National Institute for Viral Disease Control and Prevention, Chinese Centre for Disease Control and Prevention, Key Laboratory for Medical Virology, National Health and Family Planning Commission, Beijing.; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Li L; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.
Yan Z; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.
Gan T; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Li L; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Chen R; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Chen R; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.
Zheng Z; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Hong W; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.
Wang J; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Smith DK; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Guan Y; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Zhu H; Joint Influenza Research Centre, Shantou University Medical College, Shantou, Guangdong.; State Key Laboratory of Emerging Infectious Diseases/Centre of Influenza Research, School of Public Health, The University of Hong Kong, Hong Kong SAR.
Shu Y; National Institute for Viral Disease Control and Prevention, Chinese Centre for Disease Control and Prevention, Key Laboratory for Medical Virology, National Health and Family Planning Commission, Beijing.; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2015 Sep 22; Vol. 5, pp. 14170. Date of Electronic Publication: 2015 Sep 22.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Codon*
Mutation*
Influenza A Virus, H7N9 Subtype/*pathogenicity
Influenza A Virus, H7N9 Subtype/*physiology
Orthomyxoviridae Infections/*virology
RNA-Dependent RNA Polymerase/*genetics
Viral Proteins/*genetics
Animals ; Disease Models, Animal ; Enzyme Activation ; Ferrets ; Humans ; Mice ; Orthomyxoviridae Infections/mortality ; Orthomyxoviridae Infections/transmission ; RNA-Dependent RNA Polymerase/metabolism ; Recombination, Genetic ; Temperature ; Viral Tropism ; Virulence/genetics ; Virus Replication ; Virus Shedding

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Skocz do pozycji: 18.

Tytuł:: Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Autorzy:: Jiang L; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Liang X; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 1 Shuai Fu Yuan, Beijing, 10073, China. .
Li Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Wang J; Department of Medical Genetics, School of Basic Medical Sciences, Capital Medical University, Beijing, China. .
Zaneveld JE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Wang H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Xu S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Wang K; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .
Wang B; Graduate School of Peking Union Medical College, Beijing, China. .; National Research Institute for Family Planning, Beijing, China. .
Chen R; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. .; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. .; Structural and Computational Biology and Molecular Biophysics Program, Baylor College of Medicine, Houston, TX, 77030, USA. .; Program in Developmental Biology, Baylor College of Medicine, Houston, TX, 77030, USA. .
Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 1 Shuai Fu Yuan, Beijing, 10073, China. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Sep 04; Vol. 10, pp. 110. Date of Electronic Publication: 2015 Sep 04.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Ethnicity/*genetics
Usher Syndromes/*diagnosis
China ; Cohort Studies ; Female ; Humans ; Male ; Molecular Diagnostic Techniques ; Pedigree ; Phenotype ; Usher Syndromes/ethnology ; Usher Syndromes/genetics

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na półce

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Skocz do pozycji: 19.

Tytuł:: The rtA181S mutation of hepatitis B virus primarily confers resistance to adefovir dipivoxil.
Autorzy:: Liu Y; Institute of Infectious Diseases/Liver Failure Medical Center, Beijing 302 Hospital of PLA, Beijing, China.
Li X
Xin S
Xu Z
Chen R
Yang J
Liu L
Wong VW
Yang D
Chan HL
Xu D; Pokaż więcej
Źródło:: Journal of viral hepatitis [J Viral Hepat] 2015 Mar; Vol. 22 (3), pp. 328-34. Date of Electronic Publication: 2014 Aug 14.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Drug Resistance, Viral*
Genes, Viral*
Mutation*
Adenine/*analogs & derivatives
Hepatitis B virus/*genetics
Hepatitis B, Chronic/*drug therapy
Hepatitis B, Chronic/*virology
Organophosphonates/*therapeutic use
Adenine/pharmacology ; Adenine/therapeutic use ; Adult ; Aged ; Antiviral Agents/pharmacology ; Antiviral Agents/therapeutic use ; DNA Mutational Analysis ; DNA, Viral ; Female ; Genotype ; Hepatitis B virus/drug effects ; Humans ; Male ; Microbial Sensitivity Tests ; Middle Aged ; Organophosphonates/pharmacology ; Reverse Transcriptase Inhibitors/pharmacology ; Reverse Transcriptase Inhibitors/therapeutic use ; Virus Replication ; Young Adult

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na półce

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Skocz do pozycji: 20.

Tytuł:: Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Autorzy:: Weedon MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Cebola I; Genomic Regulation of Pancreatic Beta-Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi I Sunyer, Spain.; CIBER de Diabetes y Enfermedades Metabólicas, 08036 Barcelona, Spain.
Patch AM; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Rodríguez-Seguí SA; Genomic Regulation of Pancreatic Beta-Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi I Sunyer, Spain.; CIBER de Diabetes y Enfermedades Metabólicas, 08036 Barcelona, Spain.; Instituto de Fisiología, Biología Molecular y Neurociencias (IFIBYNE)-Consejo Nacional de Investigaciones Científicas y Técnicas, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Buenos Aires, Argentina.
Shaw-Smith C; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Cho CH; Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Anne McLaren Laboratory for Regenerative Medicine, West Forvie Site, Robinson Way, Cambridge, UK.
Allen HL; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Houghton JA; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Roth CL; Seattle Children's Hospital Research Institute, Seattle, WA 98101, USA.
Chen R; School of Biomedical Science, Waterloo Campus, King's College London, London, UK.
Hussain K; London Centre for Paediatric Endocrinology and Metabolism, in partnership with the Great Ormond Street Hospital for Children National Health Service Trust, London, UK.; Institute of Child Health, University College London, London, UK.
Marsh P; Diabetes Research Group, Diabetes and Nutritional Sciences Division, School of Medicine, King's College London, London, UK.
Vallier L; Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Anne McLaren Laboratory for Regenerative Medicine, West Forvie Site, Robinson Way, Cambridge, UK.
Murray A; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Ferrer J; Genomic Regulation of Pancreatic Beta-Cells Laboratory, Institut d'Investigacions Biomèdiques August Pi I Sunyer, Spain.; CIBER de Diabetes y Enfermedades Metabólicas, 08036 Barcelona, Spain.; Department of Medicine, Imperial College, London, UK.
Hattersley AT; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.; Pokaż więcej
Corporate Authors:: International Pancreatic Agenesis Consortium
Źródło:: Nature genetics [Nat Genet] 2014 Jan; Vol. 46 (1), pp. 61-64. Date of Electronic Publication: 2013 Nov 10.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Enhancer Elements, Genetic/*genetics
Pancreas/*abnormalities
Pancreatic Diseases/*congenital
Transcription Factors/*genetics
Chromosomes, Human, Pair 10 ; Embryonic Stem Cells/physiology ; Epigenomics/methods ; Female ; Genes, Recessive ; Humans ; Male ; Pancreatic Diseases/genetics ; Pedigree
SCR Disease Name:: Pancreatic Agenesis, Congenital

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