Temat: "mutation" - OpacWWW

Skocz do pozycji: 1.

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; Pokaż więcej
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

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Skocz do pozycji: 2.

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. .; Pokaż więcej
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

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Skocz do pozycji: 3.

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.; Pokaż więcej
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

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Skocz do pozycji: 4.

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.; Pokaż więcej
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

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Skocz do pozycji: 5.

Tytuł:: Three-Dimensional Structural Stability and Local Electrostatic Potential at Point Mutations in Spike Protein of SARS-CoV-2 Coronavirus.
Autorzy:: Hristova SH; Department of Medical Physics and Biophysics, Medical Faculty, Medical University-Sofia, Zdrave Street 2, 1431 Sofia, Bulgaria.
Zhivkov AM; Scientific Research Center, 'St. Kliment Ohridski' Sofia University, 8 Dragan Tsankov Blvd., 1164 Sofia, Bulgaria.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 11; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:: Journal Article
MeSH Terms:: COVID-19*
Point Mutation*
Spike Glycoprotein, Coronavirus*/genetics
Spike Glycoprotein, Coronavirus*/physiology
Humans ; Amino Acids ; Angiotensin-Converting Enzyme 2 ; Mutation ; Protein Binding ; SARS-CoV-2/genetics ; Static Electricity

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Skocz do pozycji: 6.

Tytuł:: Synergy of Mutation-Induced Effects in Human Vitamin K Epoxide Reductase: Perspectives and Challenges for Allo-Network Modulator Design.
Autorzy:: Botnari M; Centre Borelli, École Normale Supérieure (ENS) Paris-Saclay, Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay, 4 Avenue des Sciences, F-91190 Gif-sur-Yvette, France.
Tchertanov L; Centre Borelli, École Normale Supérieure (ENS) Paris-Saclay, Centre National de la Recherche Scientifique (CNRS), Université Paris-Saclay, 4 Avenue des Sciences, F-91190 Gif-sur-Yvette, France.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 07; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 07.
Typ publikacji:: Journal Article
MeSH Terms:: Mutation, Missense*
Vitamin K Epoxide Reductases*/genetics
Vitamin K Epoxide Reductases*/metabolism
Humans ; Mutation ; Oxidation-Reduction ; Vitamin K/metabolism

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Skocz do pozycji: 7.

Tytuł:: Hotspot propensity across mutational processes.
Autorzy:: Arnedo-Pac C; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.
Muiños F; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain.
Gonzalez-Perez A; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain. .; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain. .
Lopez-Bigas N; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain. .; Centro de Investigación Biomédica en Red en Cáncer (CIBERONC), Instituto de Salud Carlos III, Madrid, Spain. .; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain. .; Department of Medicine and Life Sciences (MELIS), Universitat Pompeu Fabra (UPF), Barcelona, Spain. .; Pokaż więcej
Źródło:: Molecular systems biology [Mol Syst Biol] 2024 Jan; Vol. 20 (1), pp. 6-27. Date of Electronic Publication: 2023 Dec 20.
Typ publikacji:: Journal Article
MeSH Terms:: Mutation Rate*
Neoplasms*/genetics
Humans ; Mutation ; Base Sequence ; Nucleotides

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Skocz do pozycji: 8.

Tytuł:: Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Autorzy:: Su Y; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.; The First Clinical College of Wuhan University, Wuhan, China.
Zhang J; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Gao J; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Ding G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Jiang H; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.
Liu Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China.
Li Y; Xiangyang Central Hospital, Affiliated Hospital of Hubei University of Arts and Science, Xiangyang, 441021, China. .; School of Basic Medicine, Hubei University of Arts and Science, Xiangyang, 441053, China. .
Yang G; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China. .; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan, 430071, China. .; Pokaż więcej
Źródło:: BMC medical genomics [BMC Med Genomics] 2024 Jan 26; Vol. 17 (1), pp. 36. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:: Journal Article
MeSH Terms:: Frameshift Mutation*
Nystagmus, Congenital*/genetics
Humans ; Base Sequence ; Membrane Proteins/genetics ; Cytoskeletal Proteins/genetics ; Pedigree ; DNA Mutational Analysis ; Mutation

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Skocz do pozycji: 9.

Tytuł:: GTP-Bound N-Ras Conformational States and Substates Are Modulated by Membrane and Point Mutation.
Autorzy:: Farcas A; Department of Molecular and Biomolecular Physics, National Institute for Research and Development of Isotopic and Molecular Technologies, 67-103 Donat Street, 400293 Cluj-Napoca, Romania.
Janosi L; Department of Molecular and Biomolecular Physics, National Institute for Research and Development of Isotopic and Molecular Technologies, 67-103 Donat Street, 400293 Cluj-Napoca, Romania.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 24; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 24.
Typ publikacji:: Journal Article
MeSH Terms:: Guanine Nucleotide Exchange Factors*/genetics
Point Mutation*
Proto-Oncogene Proteins p21(ras)*/genetics
Proto-Oncogene Proteins p21(ras)*/physiology
Guanosine Triphosphate/metabolism ; Mutation ; ras Proteins/metabolism ; Molecular Dynamics Simulation

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Skocz do pozycji: 10.

Tytuł:: A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.
Autorzy:: Xu N; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Zheng L; Department of Nephrology, Mengchao Hepatobiliary Hospital of Fujian Medical University, Fuzhou, China.
Dai Z; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Zhu J; Department of Minimally Invasive Orthopedics, The Hunan University of Medicine General Hospital, Huaihua, China.
Xie P; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Yang S; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.
Chen F; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China. .; Pokaż więcej
Źródło:: Hereditas [Hereditas] 2024 Jan 18; Vol. 161 (1), pp. 4. Date of Electronic Publication: 2024 Jan 18.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Afibrinogenemia*
Fibrinogen*/genetics
Mutation, Missense*
Animals ; Cricetinae ; Humans ; CHO Cells ; Cricetulus ; Mutation ; Phenotype
SCR Disease Name:: Hypodysfibrinogenemia, Congenital

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