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Tytuł:
Analysis of Hereditary FXII Deficiency Caused by Three Mutations Including a Novel Mutation
Autorzy:
Ye L; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Liu M; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Yang L; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Wang M; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
Xie Y; The First Affiliated Hospital of Wenzhou Medical University, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, Department of Clinical Laboratory, Wenzhou, China
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Źródło:
Turkish journal of haematology : official journal of Turkish Society of Haematology [Turk J Haematol] 2024 Mar 01; Vol. 41 (1), pp. 66-68. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Factor XII*/genetics
Humans ; Mutation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice.
Autorzy:
Sasani TA; Department of Human Genetics, University of Utah, Salt Lake City, United States.
Quinlan AR; Department of Human Genetics, University of Utah, Salt Lake City, United States.; Department of Biomedical Informatics, University of Utah, Salt Lake City, United States.
Harris K; Department of Genome Sciences, University of Washington, Seattle, United States.; Herbold Computational Biology Program, Fred Hutch Cancer Center, Seattle, United States.
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Źródło:
ELife [Elife] 2024 Feb 21; Vol. 12. Date of Electronic Publication: 2024 Feb 21.
Typ publikacji:
Journal Article
MeSH Terms:
Germ-Line Mutation*
Epistasis, Genetic*
Humans ; Animals ; Mice ; Alleles ; Mutation ; Chromosome Mapping ; Mammals
Czasopismo naukowe
Szczegóły
Tytuł:
Mutation and evolution: Conceptual possibilities.
Autorzy:
Livnat A; Department of Evolutionary and Environmental Biology, University of Haifa, Haifa, Israel.; Institute of Evolution, University of Haifa, Haifa, Israel.
Love AC; Department of Philosophy and Minnesota Center for Philosophy of Science, University of Minnesota (Twin Cities), Minneapolis, Minnesota, USA.
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Źródło:
BioEssays : news and reviews in molecular, cellular and developmental biology [Bioessays] 2024 Feb; Vol. 46 (2), pp. e2300025.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation Rate*
Research Design*
Mutation
Czasopismo naukowe
Szczegóły
Tytuł:
Effects of parental age and polymer composition on short tandem repeat de novo mutation rates.
Autorzy:
Goldberg ME; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Departments of Human Genetics and Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA.
Noyes MD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Quinlan AR; Departments of Human Genetics and Biomedical Informatics, University of Utah, Salt Lake City, UT 84112, USA.
Harris K; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Computational Biology Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
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Źródło:
Genetics [Genetics] 2024 Apr 03; Vol. 226 (4).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation Rate*
Microsatellite Repeats*
Humans ; Female ; Child ; Mutation ; Parents ; Meiosis ; Nucleotides
Czasopismo naukowe
Szczegóły
Tytuł:
Novel missense mutation c.797T>C (p.Met266Thr) gives rise to the rare B(A) phenotype in a Chinese family.
Autorzy:
Shao LN; Dalian Blood Center, Dalian, Liaoning, China.
Yang YC; Dalian Blood Center, Dalian, Liaoning, China.
Xia YX; Dalian Blood Center, Dalian, Liaoning, China.
Li CX; Dalian Blood Center, Dalian, Liaoning, China.
Zhou SH; Dalian Blood Center, Dalian, Liaoning, China.
Liang XH; Dalian Blood Center, Dalian, Liaoning, China.
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Źródło:
Vox sanguinis [Vox Sang] 2024 Apr; Vol. 119 (4), pp. 383-387. Date of Electronic Publication: 2024 Jan 21.
Typ publikacji:
Journal Article
MeSH Terms:
Mutation, Missense*
Glycosyltransferases*/chemistry
Glycosyltransferases*/genetics
Humans ; Phenotype ; Mutation ; Alleles ; China ; ABO Blood-Group System/genetics ; Genotype
Czasopismo naukowe
Szczegóły
Tytuł:
Rapid screening of point mutations by mismatch amplification mutation assay PCR.
Autorzy:
Zhang F; The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, People's Republic of China.
Liu ZY; The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, People's Republic of China.
Liu S; The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, People's Republic of China.
Zhang WG; The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, People's Republic of China. .
Wang BB; The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, People's Republic of China.
Li CL; The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, People's Republic of China.
Xu JZ; The Key Laboratory of Industrial Biotechnology, Ministry of Education, School of Biotechnology, Jiangnan University, 1800 Lihu Road, Wuxi, 214122, People's Republic of China.
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Źródło:
Applied microbiology and biotechnology [Appl Microbiol Biotechnol] 2024 Feb 02; Vol. 108 (1), pp. 190. Date of Electronic Publication: 2024 Feb 02.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Corynebacterium glutamicum*/genetics
Mutation ; Base Sequence ; Polymerase Chain Reaction/methods
Czasopismo naukowe
Szczegóły
Tytuł:
Germline Mutations and Ancestry in Prostate Cancer.
Autorzy:
Bataba E; Walter Reed National Military Medical Center, Bethesda, MD, 20889, USA.
Babcock K; Walter Reed National Military Medical Center, Bethesda, MD, 20889, USA.
Isensee KA; School of Medicine, Uniformed Services University of the Health Sciences, Bethesda, MD, 20814, USA.
Eldhose B; Center for Prostate Disease Research, Murtha Cancer Center Research Program, Department of Surgery at the Uniformed Services University of the Health Sciences, 6720A Rockledge Drive Suite 300, Bethesda, MD, 20817, USA.; Henry Jackson Foundation for the Advancement of Military Medicine Inc., Bethesda, MD, 20817, USA.
Kohaar I; Center for Prostate Disease Research, Murtha Cancer Center Research Program, Department of Surgery at the Uniformed Services University of the Health Sciences, 6720A Rockledge Drive Suite 300, Bethesda, MD, 20817, USA.; Henry Jackson Foundation for the Advancement of Military Medicine Inc., Bethesda, MD, 20817, USA.; Cancer Biomarkers Research Group, Division of Cancer Prevention, National Cancer Institute, National Institutes of Health, Rockville, MD, 20850, USA.
Chesnut GT; Walter Reed National Military Medical Center, Bethesda, MD, 20889, USA.; Center for Prostate Disease Research, Murtha Cancer Center Research Program, Department of Surgery at the Uniformed Services University of the Health Sciences, 6720A Rockledge Drive Suite 300, Bethesda, MD, 20817, USA.
Dobi A; Center for Prostate Disease Research, Murtha Cancer Center Research Program, Department of Surgery at the Uniformed Services University of the Health Sciences, 6720A Rockledge Drive Suite 300, Bethesda, MD, 20817, USA. .; Henry Jackson Foundation for the Advancement of Military Medicine Inc., Bethesda, MD, 20817, USA. .
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Źródło:
Current oncology reports [Curr Oncol Rep] 2024 Feb; Vol. 26 (2), pp. 175-180. Date of Electronic Publication: 2024 Jan 24.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Germ-Line Mutation*
Prostatic Neoplasms*/genetics
Prostatic Neoplasms*/pathology
Male ; Humans ; Mutation ; Genetic Testing ; Genetic Predisposition to Disease
Czasopismo naukowe
Szczegóły
Tytuł:
Not exclusively the activity, but the sweet spot: a dehydrogenase point mutation synergistically boosts activity, substrate tolerance, thermal stability and yield.
Autorzy:
Cen YK; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
Zhang L; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
Jiang Y; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
Meng XF; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
Li Y; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
Xiang C; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
Xue YP; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
Zheng YG; Key Laboratory of Bioorganic Synthesis of Zhejiang Province, College of Biotechnology and Bioengineering, Zhejiang University of Technology, Hangzhou 310014, China. .; Engineering Research Center of Bioconversion and Biopurification of Ministry of Education, Zhejiang University of Technology, Hangzhou 310014, China.; National and Local Joint Engineering Research Center for Biomanufacturing of Chiral Chemicals, Zhejiang University of Technology, Hangzhou 310014, P. R. China.
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Źródło:
Organic & biomolecular chemistry [Org Biomol Chem] 2024 Apr 17; Vol. 22 (15), pp. 3009-3018. Date of Electronic Publication: 2024 Apr 17.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Hydroxysteroid Dehydrogenases*/genetics
Hydroxysteroid Dehydrogenases*/metabolism
Mutation ; Catalysis ; Kinetics
Czasopismo naukowe
Szczegóły
Tytuł:
Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform.
Autorzy:
Mackeh R; Research Branch, Sidra Medicine, Doha, Qatar.
El Bsat Y; Research Branch, Sidra Medicine, Doha, Qatar.
Elmi A; Research Branch, Sidra Medicine, Doha, Qatar.
Bibawi H; Division of Hematopathology, Sidra Medicine, Doha, Qatar.
Karim MY; Division of Hematopathology, Sidra Medicine, Doha, Qatar.; College of Medicine, Qatar University, Doha, Qatar.
Hassan A; Pediatric Allergy and Immunology Department, Sidra Medicine, Ar-Rayyan, Qatar.
Lo B; Research Branch, Sidra Medicine, Doha, Qatar. .; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. .
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Źródło:
Journal of clinical immunology [J Clin Immunol] 2024 Apr 08; Vol. 44 (4), pp. 96. Date of Electronic Publication: 2024 Apr 08.
Typ publikacji:
Journal Article
MeSH Terms:
Silent Mutation*
Interleukin-7 Receptor alpha Subunit*/genetics
Humans ; Mutation/genetics ; Exons ; Enzyme-Linked Immunosorbent Assay ; Flow Cytometry
Czasopismo naukowe
Szczegóły
Tytuł:
Multi-strategy orthogonal enhancement and analysis of aldo-keto reductase thermal stability.
Autorzy:
Zhang L; College of Chemical Engineering, Huaqiao University, Xiamen 361021, Fujian Province, PR China.
Zhou R; Shanghai Marine Diesel Engine Research Institute, Shanghai 201108, PR China.
Liu D; College of Chemical Engineering, Huaqiao University, Xiamen 361021, Fujian Province, PR China.
Zhu M; College of Chemical Engineering, Huaqiao University, Xiamen 361021, Fujian Province, PR China.
Zhang G; College of Chemical Engineering, Huaqiao University, Xiamen 361021, Fujian Province, PR China.
Zhang L; State Key Laboratory of Microbial Technology, Shandong University, No. 72 Binhai Road, Qingdao 266237, PR China.
Zhou SF; College of Chemical Engineering, Huaqiao University, Xiamen 361021, Fujian Province, PR China. Electronic address: .
Jiang W; College of Chemical Engineering, Huaqiao University, Xiamen 361021, Fujian Province, PR China. Electronic address: .
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Źródło:
International journal of biological macromolecules [Int J Biol Macromol] 2024 Apr; Vol. 264 (Pt 2), pp. 130691. Date of Electronic Publication: 2024 Mar 06.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Aldo-Keto Reductases/genetics ; Temperature ; Protein Stability ; Mutation ; Enzyme Stability
Czasopismo naukowe
Szczegóły
Tytuł:
Generation of CRISPR/Cas9 edited human induced pluripotent stem cell line carrying the heterozygous p.H695VfsX5 frameshift mutation in the exon 10 of the PKP2 gene.
Autorzy:
Pierre B; Sorbonne Université, INSERM, UMRS 1166, Paris, France.
Laëtitia DB; Sorbonne Université, INSERM, UMRS 1166, Paris, France; APHP, Pitié-Salpêtrière University Hospital, Paris, France.
Camille B; Sorbonne Université, INSERM, UMRS 1166, Paris, France.
Claire P; Sorbonne Université, INSERM, UMRS 1166, Paris, France.
Elise B; Sorbonne Université, INSERM, UMRS 1166, Paris, France.
Estelle G; Sorbonne Université, INSERM, UMRS 1166, Paris, France; APHP, Pitié-Salpêtrière University Hospital, Paris, France.
Vincent F; Sorbonne Université, INSERM, UMRS 1166, Paris, France; ICAN Biocell iPS core - Institute for Cardiometabolism and Nutrition, Paris, France.
Eric V; Sorbonne Université, INSERM, UMRS 1166, Paris, France; APHP, Pitié-Salpêtrière University Hospital, Paris, France; ICAN Biocell iPS core - Institute for Cardiometabolism and Nutrition, Paris, France. Electronic address: .
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Źródło:
Stem cell research [Stem Cell Res] 2024 Apr; Vol. 76, pp. 103341. Date of Electronic Publication: 2024 Feb 13.
Typ publikacji:
Journal Article
MeSH Terms:
Frameshift Mutation*
Induced Pluripotent Stem Cells*/metabolism
Humans ; CRISPR-Cas Systems/genetics ; Mutation ; Exons/genetics ; Plakophilins/genetics ; Plakophilins/metabolism
Czasopismo naukowe
Szczegóły
Tytuł:
Singlet oxygen-based photoelectrochemical detection of single-point mutations in the KRAS oncogene.
Autorzy:
Daems E; A-Sense Lab, Department of Bioscience Engineering, University of Antwerp, Antwerp, 2020, Belgium; NANOlab Center of Excellence, University of Antwerp, Antwerp, 2020, Belgium.
Bassini S; A-Sense Lab, Department of Bioscience Engineering, University of Antwerp, Antwerp, 2020, Belgium; NANOlab Center of Excellence, University of Antwerp, Antwerp, 2020, Belgium.
Mariën L; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, 2650, Belgium; Center for Oncological Research, Integrated Personalized & Precision Oncology Network (IPPON), University of Antwerp, Wilrijk, 2610, Belgium.
Op de Beeck H; A-Sense Lab, Department of Bioscience Engineering, University of Antwerp, Antwerp, 2020, Belgium; NANOlab Center of Excellence, University of Antwerp, Antwerp, 2020, Belgium.
Stratulat A; A-Sense Lab, Department of Bioscience Engineering, University of Antwerp, Antwerp, 2020, Belgium; NANOlab Center of Excellence, University of Antwerp, Antwerp, 2020, Belgium.
Zwaenepoel K; Center for Oncological Research, Integrated Personalized & Precision Oncology Network (IPPON), University of Antwerp, Wilrijk, 2610, Belgium; Department of Pathology, Antwerp University Hospital, Edegem, 2650, Belgium.
Vandamme T; Center for Oncological Research, Integrated Personalized & Precision Oncology Network (IPPON), University of Antwerp, Wilrijk, 2610, Belgium; Department of Oncology and Multidisciplinary Oncological Center Antwerp (MOCA), Antwerp University Hospital, Edegem, 2650, Belgium.
Op de Beeck K; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, 2650, Belgium; Center for Oncological Research, Integrated Personalized & Precision Oncology Network (IPPON), University of Antwerp, Wilrijk, 2610, Belgium.
Koljenović S; Center for Oncological Research, Integrated Personalized & Precision Oncology Network (IPPON), University of Antwerp, Wilrijk, 2610, Belgium; Department of Pathology, Antwerp University Hospital, Edegem, 2650, Belgium.
Peeters M; Center for Oncological Research, Integrated Personalized & Precision Oncology Network (IPPON), University of Antwerp, Wilrijk, 2610, Belgium; Department of Oncology and Multidisciplinary Oncological Center Antwerp (MOCA), Antwerp University Hospital, Edegem, 2650, Belgium.
Van Camp G; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Edegem, 2650, Belgium; Center for Oncological Research, Integrated Personalized & Precision Oncology Network (IPPON), University of Antwerp, Wilrijk, 2610, Belgium.
De Wael K; A-Sense Lab, Department of Bioscience Engineering, University of Antwerp, Antwerp, 2020, Belgium; NANOlab Center of Excellence, University of Antwerp, Antwerp, 2020, Belgium. Electronic address: .
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Źródło:
Biosensors & bioelectronics [Biosens Bioelectron] 2024 Apr 01; Vol. 249, pp. 115957. Date of Electronic Publication: 2023 Dec 23.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Biosensing Techniques*
Humans ; Proto-Oncogene Proteins p21(ras)/genetics ; Singlet Oxygen ; ras Proteins/genetics ; DNA Mutational Analysis/methods ; Mutation ; Oncogenes
Czasopismo naukowe
Szczegóły
Tytuł:
Recapitulating primary immunodeficiencies with expanded potential stem cells: Proof of concept with STAT1 gain of function.
Autorzy:
Liu X; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China.
Chan VSF; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China.
Smith KGC; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Department of Medicine, University of Cambridge School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.
Ming C; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; School of Biomedical Sciences, University of Hong Kong, Hong Kong SAR, China.
Or CS; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China.
Tsui FTW; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China.
Gao B; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; School of Biomedical Sciences, Chinese University of Hong Kong, Hong Kong SAR, China.
Cook MC; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Department of Medicine, University of Cambridge School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom.
Liu P; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; School of Biomedical Sciences, University of Hong Kong, Hong Kong SAR, China.
Lau CS; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China.
Li PH; Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China. Electronic address: .
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Źródło:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Apr; Vol. 153 (4), pp. 1125-1139. Date of Electronic Publication: 2023 Dec 09.
Typ publikacji:
Journal Article
MeSH Terms:
Gain of Function Mutation*
Humans ; Mutation ; Phosphorylation ; STAT1 Transcription Factor
Czasopismo naukowe
Szczegóły
Tytuł:
The switch states of the GDP-bound HRAS affected by point mutations: a study from Gaussian accelerated molecular dynamics simulations and free energy landscapes.
Autorzy:
Bao H; School of Pharmacy, Shandong University of Traditional Chinese Medicine, Jinan, China.
Wang W; School of Science, Shandong Jiaotong University, Jinan, China.
Sun H; School of Science, Shandong Jiaotong University, Jinan, China.
Chen J; School of Science, Shandong Jiaotong University, Jinan, China.
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Źródło:
Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2024 Apr; Vol. 42 (7), pp. 3363-3381. Date of Electronic Publication: 2023 May 22.
Typ publikacji:
Journal Article
MeSH Terms:
Molecular Dynamics Simulation*
Point Mutation*
Entropy ; Mutation
Czasopismo naukowe
Szczegóły
Tytuł:
High-throughput prediction of protein conformational distributions with subsampled AlphaFold2.
Autorzy:
Monteiro da Silva G; Brown University Department of Molecular and Cell Biology and Biochemistry, Providence, RI, USA.
Cui JY; Brown University Department of Molecular and Cell Biology and Biochemistry, Providence, RI, USA.
Dalgarno DC; Dalgarno Scientific LLC, Brookline, MA, USA.
Lisi GP; Brown University Department of Molecular and Cell Biology and Biochemistry, Providence, RI, USA.; Brown University Department of Chemistry, Providence, RI, USA.
Rubenstein BM; Brown University Department of Molecular and Cell Biology and Biochemistry, Providence, RI, USA. brenda_.; Brown University Department of Chemistry, Providence, RI, USA. brenda_.
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Źródło:
Nature communications [Nat Commun] 2024 Mar 27; Vol. 15 (1), pp. 2464. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Protein Conformation ; Mutation ; Sequence Alignment
Czasopismo naukowe
Szczegóły
Tytuł:
An in-silico analysis of OGT gene association with diabetes mellitus.
Autorzy:
Ayodele AO; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.
Udosen B; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda.
Oluwagbemi OO; Department of Computer Science and Information Technology, Faculty of Natural and Applied Sciences, Sol Plaatje University, 8301, Kimberley, South Africa.; Department of Mathematical Sciences, Stellenbosch University, 7602, Stellenbosch, South Africa.
Oladipo EK; Laboratory of Molecular Biology, Immunology and Bioinformatics, Department of Microbiology, Adeleke University, 232104, Ede, Nigeria.; Genomics Unit, Helix Biogen Institute, 210214, Ogbomoso, Nigeria.
Omotuyi I; Institute for Drug Research and Development, S.E. Bogoro Center, Afe Babalola University, Ado Ekiti, Nigeria.; Molecular Biology and Molecular Simulation Center (Mols&Sims), Ado Ekiti, Nigeria.
Isewon I; Computer and Information Sciences Department, Covenant University, Ota, Ogun State, Nigeria.
Nash O; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria.
Soremekun O; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda.; MRC/UVRI and London School of Hygiene and Tropical Medicine London (LSHTM) Uganda Research Unit, Entebbe, Uganda.
Fatumo S; H3Africa Bioinformatics Network (H3ABioNet) Node, Centre for Genomics Research and Innovation, NABDA/FMST, Abuja, Nigeria. .; The African Computational Genomics (TACG) Research Group, MRC/UVRI, and LSHTM, Entebbe, Uganda. .; MRC/UVRI and London School of Hygiene and Tropical Medicine London (LSHTM) Uganda Research Unit, Entebbe, Uganda. .
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Źródło:
BMC research notes [BMC Res Notes] 2024 Mar 27; Vol. 17 (1), pp. 89. Date of Electronic Publication: 2024 Mar 27.
Typ publikacji:
Journal Article
MeSH Terms:
Point Mutation*
Diabetes Mellitus*/genetics
Humans ; Molecular Docking Simulation ; Ligands ; Mutation ; Protein Processing, Post-Translational
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Evolutionary graph theory beyond pairwise interactions: Higher-order network motifs shape times to fixation in structured populations.
Autorzy:
Kuo YP; Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.; Joint Carnegie Mellon University-University of Pittsburgh Ph.D. Program in Computational Biology, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.
Carja O; Computational Biology Department, School of Computer Science, Carnegie Mellon University, Pittsburgh, Pennsylvania, United States of America.
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Źródło:
PLoS computational biology [PLoS Comput Biol] 2024 Mar 15; Vol. 20 (3), pp. e1011905. Date of Electronic Publication: 2024 Mar 15 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Biological Evolution*
Mutation Rate*
Mutation ; Algorithms ; Mathematics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unravelling the link between SARS-CoV-2 mutation frequencies, patient comorbidities, and structural dynamics.
Autorzy:
Azzeri A; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Mohamed NA; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Wan Rosli SH; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Abdul Samat MN; Department of Medical Microbiology and Immunology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur, Malaysia.
Rashid ZZ; Department of Medical Microbiology and Immunology, Faculty of Medicine, Universiti Kebangsaan Malaysia, Cheras, Kuala Lumpur, Malaysia.
Mohamad Jamali MA; Faculty of Science and Technology, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
Md Zoqratt MZH; Fast Genomics Solutions, Subang Jaya, Selangor Darul Ehsan, Malaysia.; School of Science, Monash University Malaysia, Bandar Sunway, Selangor, Malaysia.
Mohammad Nasir MA; Fast Genomics Solutions, Subang Jaya, Selangor Darul Ehsan, Malaysia.; School of Science, Monash University Malaysia, Bandar Sunway, Selangor, Malaysia.
Ranjit Singh HK; Fast Genomics Solutions, Subang Jaya, Selangor Darul Ehsan, Malaysia.; School of Science, Monash University Malaysia, Bandar Sunway, Selangor, Malaysia.
Azmi L; Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Nilai, Negeri Sembilan, Malaysia.
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Źródło:
PloS one [PLoS One] 2024 Mar 14; Vol. 19 (3), pp. e0291892. Date of Electronic Publication: 2024 Mar 14 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Mutation Rate*
COVID-19*/epidemiology
COVID-19*/genetics
Humans ; SARS-CoV-2/genetics ; Mutation ; Amino Acid Substitution ; Molecular Dynamics Simulation
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Relationships between the mutations of the goat GATA binding protein 4 gene and growth traits.
Autorzy:
Li X; College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Wang Z; College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Wang Q; College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Akhmet N; College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Zhu H; Life Science Research Center, Shaanxi Provincial Engineering and Technology Research Center of Cashmere Goats, Yulin University, Yulin 719000, China.
Guo Z; Bijie Institute of Animal Husbandry and Veterinary Science, Guizhou Province,Bijie 551700, China.
Pan C; College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China.
Lan X; College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China. Electronic address: .
Zhang S; College of Animal Science and Technology, Northwest A&F University, Yangling 712100, China; College of Animal Science and Technology, Anhui Agricultural University, Hefei, Anhui 230036, China. Electronic address: .
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Źródło:
Gene [Gene] 2024 Mar 10; Vol. 898, pp. 148095. Date of Electronic Publication: 2023 Dec 19.
Typ publikacji:
Journal Article
MeSH Terms:
Goats*/genetics
INDEL Mutation*
Animals ; Genotype ; Mutation ; Phenotype
Czasopismo naukowe
Szczegóły
Tytuł:
Evolving copy number gains promote tumor expansion and bolster mutational diversification.
Autorzy:
Wang Z; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA.; School of Data Science, The Chinese University of Hong Kong (CUHK-Shenzhen), Shenzhen, China.
Xia Y; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA.
Mills L; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Nikolakopoulos AN; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA.
Maeser N; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA.
Dehm SM; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA.; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA.; Department of Urology, University of Minnesota, Minneapolis, MN, USA.
Sheltzer JM; School of Medicine, Yale University, New Haven, CT, USA.
Sun R; Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, USA. .; Masonic Cancer Center, University of Minnesota, Minneapolis, MN, USA. .
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Źródło:
Nature communications [Nat Commun] 2024 Mar 06; Vol. 15 (1), pp. 2025. Date of Electronic Publication: 2024 Mar 06.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Copy Number Variations*/genetics
Point Mutation*
Humans ; Mutation ; Cognition ; Exercise
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 1275631

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