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Academic Journal

Analysis of Hereditary FXII Deficiency Caused by Three Mutations Including a Novel Mutation

  • Authors : 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

Subjects: Mutation, Missense* ; Factor XII*/Factor XII*/Factor XII*/genetics; Humans

  • Source: 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 Publisher: Galenos Yayinevi Country of Publication: Turkey NLM ID: 9606065 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice.

  • Authors : Sasani TA; Department of Human Genetics, University of Utah, Salt Lake City, United States.; Quinlan AR

Subjects: Germ-Line Mutation* ; Epistasis, Genetic*; Humans

  • Source: ELife [Elife] 2024 Feb 21; Vol. 12. Date of Electronic Publication: 2024 Feb 21.Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet

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Academic Journal

Mutation and evolution: Conceptual possibilities.

  • Authors : Livnat A; Department of Evolutionary and Environmental Biology, University of Haifa, Haifa, Israel.; Institute of Evolution, University of Haifa, Haifa, Israel.

Subjects: Mutation Rate* ; Research Design*; Mutation

  • Source: BioEssays : news and reviews in molecular, cellular and developmental biology [Bioessays] 2024 Feb; Vol. 46 (2), pp. e2300025.Publisher: Wiley Country of Publication: United States NLM ID: 8510851 Publication Model: Print Cited Medium: Internet ISSN: 1521-1878

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Academic Journal

Hotspot propensity across mutational processes.

  • Authors : 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.

Subjects: Mutation Rate* ; Neoplasms*/Neoplasms*/Neoplasms*/genetics; Humans

  • Source: Molecular systems biology [Mol Syst Biol] 2024 Jan; Vol. 20 (1), pp. 6-27. Date of Electronic Publication: 2023 Dec 20.Publisher: Wiley Blackwell Country of Publication: England NLM ID: 101235389 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Assessing computational tools for predicting protein stability changes upon missense mutations using a new dataset.

  • Authors : Zheng F; MOE Key Laboratory of Geriatric Diseases and Immunology, School of Biology and Basic Medical Sciences, Suzhou Medical College of Soochow University, Suzhou, China.; Liu Y

Subjects: Mutation, Missense* ; Proteins*/Proteins*/Proteins*/genetics ; Proteins*/Proteins*/Proteins*/chemistry

  • Source: Protein science : a publication of the Protein Society [Protein Sci] 2024 Jan; Vol. 33 (1), pp. e4861.Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9211750 Publication Model: Print Cited Medium: Internet

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Academic Journal

Rapid screening of point mutations by mismatch amplification mutation assay PCR.

  • Authors : 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

Subjects: Point Mutation* ; Corynebacterium glutamicum*/Corynebacterium glutamicum*/Corynebacterium glutamicum*/genetics; Mutation

  • Source: Applied microbiology and biotechnology [Appl Microbiol Biotechnol] 2024 Feb 02; Vol. 108 (1), pp. 190. Date of Electronic Publication: 2024 Feb 02.Publisher: Springer International Country of Publication: Germany NLM ID: 8406612 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Germline Mutations and Ancestry in Prostate Cancer.

  • Authors : Bataba E; Walter Reed National Military Medical Center, Bethesda, MD, 20889, USA.; Babcock K

Subjects: Germ-Line Mutation* ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/genetics ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/pathology

  • Source: Current oncology reports [Curr Oncol Rep] 2024 Feb; Vol. 26 (2), pp. 175-180. Date of Electronic Publication: 2024 Jan 24.Publisher: Current Science Country of Publication: United States NLM ID: 100888967 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.

  • Authors : Su Y; Department of Medical Genetics, School of Basic Medical Science, Wuhan University, Wuhan, China.; The First Clinical College of Wuhan University, Wuhan, China.

Subjects: Frameshift Mutation* ; Nystagmus, Congenital*/Nystagmus, Congenital*/Nystagmus, Congenital*/genetics; Humans

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Jan 26; Vol. 17 (1), pp. 36. Date of Electronic Publication: 2024 Jan 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

GTP-Bound N-Ras Conformational States and Substates Are Modulated by Membrane and Point Mutation.

  • Authors : 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

Subjects: Guanine Nucleotide Exchange Factors*/Guanine Nucleotide Exchange Factors*/Guanine Nucleotide Exchange Factors*/genetics ; Point Mutation* ; Proto-Oncogene Proteins p21(ras)*/Proto-Oncogene Proteins p21(ras)*/Proto-Oncogene Proteins p21(ras)*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 24; Vol. 25 (3). Date of Electronic Publication: 2024 Jan 24.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.

  • Authors : Xu N; Department of Spine Surgery, the Second Xiangya Hospital, Central South University, Changsha, China.; Zheng L

Subjects: Afibrinogenemia* ; Fibrinogen*/Fibrinogen*/Fibrinogen*/genetics ; Mutation, Missense*Hypodysfibrinogenemia, Congenital

  • Source: Hereditas [Hereditas] 2024 Jan 18; Vol. 161 (1), pp. 4. Date of Electronic Publication: 2024 Jan 18.Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 0374654 Publication Model: Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  1,019,349 results for ""Mutation""