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Academic Journal

Association between tobacco substance usage and a missense mutation in the tumor suppressor gene P53 in the Saudi Arabian population.

  • Authors : Almutairi MH; Zoology Department, College of Science, King Saud University, Riyadh, Saudi Arabia.; Almutairi BO

Subjects: Heterozygote* ; Homozygote* ; Mutation, Missense*

  • Source: PloS one [PLoS One] 2021 Jan 22; Vol. 16 (1), pp. e0245133. Date of Electronic Publication: 2021 Jan 22 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

  • Authors : Fields FR; Boler-Parseghian Center for Rare and Neglected Diseases, University of Notre Dame, Notre Dame, Indiana, United States of America.; Department of Biological Sciences, University of Notre Dame, Notre Dame, Indiana, United States of America.

Subjects: Mutation, Missense/Mutation, Missense/Mutation, Missense/*genetics ; Von Hippel-Lindau Tumor Suppressor Protein/Von Hippel-Lindau Tumor Suppressor Protein/Von Hippel-Lindau Tumor Suppressor Protein/*genetics ; von Hippel-Lindau Disease/von Hippel-Lindau Disease/von Hippel-Lindau Disease/*genetics

  • Source: PloS one [PLoS One] 2020 Nov 05; Vol. 15 (11), pp. e0234100. Date of Electronic Publication: 2020 Nov 05 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

A missense mutation of ErbB2 produces a novel mouse model of stillbirth associated with a cardiac abnormality but lacking abnormalities of placental structure.

  • Authors : Shawer H; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, England, United Kingdom.; Aiyelaagbe E

Subjects: Mutation, Missense*; Heart Defects, Congenital/Heart Defects, Congenital/Heart Defects, Congenital/*genetics ; Receptor, ErbB-2/Receptor, ErbB-2/Receptor, ErbB-2/*genetics Congenital heart block

  • Source: PloS one [PLoS One] 2020 Jun 03; Vol. 15 (6), pp. e0233007. Date of Electronic Publication: 2020 Jun 03 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.

  • Authors : Chen T; Laboratory for Functional Genomics and Systems Biology, Berlin Institute for Medical System Biology, Max-Delbrück-Center for Molecular Medicine, Berlin, Germany.; Zhang B

Subjects: Alternative Splicing* ; Mutation, Missense*; Homeodomain Proteins/Homeodomain Proteins/Homeodomain Proteins/*genetics

  • Source: PLoS genetics [PLoS Genet] 2019 Oct 31; Vol. 15 (10), pp. e1008460. Date of Electronic Publication: 2019 Oct 31 (Print Publication: 2019).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection

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Academic Journal

GTExome: Modeling commonly expressed missense mutations in the human genome.

Subjects: *MISSENSE mutation; *HUMAN genome; *WEB-based user interfaces

  • Source: PLoS ONE. 5/30/2024, Vol. 19 Issue 5, p1-10. 10p.

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Academic Journal

AlphaFold2-guided engineering of split-GFP technology enables labeling of endogenous tubulins across species while preserving function.

Subjects: *CELL physiology; *MISSENSE mutation; *CAENORHABDITIS elegans

  • Source: PLoS Biology. 8/19/2024, Vol. 22 Issue 8, p1-27. 27p.

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Academic Journal

Different outcome of sarcoglycan missense mutation between human and mouse.

  • Authors : Henriques SF; INTEGRARE, Genethon, Inserm, Univ Evry, Université Paris-Saclay, Evry, France.; Patissier C

Subjects: Mutation, Missense*; Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/Muscular Dystrophies, Limb-Girdle/*genetics ; Sarcoglycans/Sarcoglycans/Sarcoglycans/*genetics

  • Source: PloS one [PLoS One] 2018 Jan 23; Vol. 13 (1), pp. e0191274. Date of Electronic Publication: 2018 Jan 23 (Print Publication: 2018).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Associations between fasting glucose rate-of-change and the missense variant, rs373863828, in an adult Samoan cohort.

Subjects: *MISSENSE mutation; *TYPE 2 diabetes; *GLUCOSE

  • Source: PLoS ONE. 6/3/2024, Vol. 19 Issue 6, p1-16. 16p.

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Academic Journal

Missense mutation at CLDN8 associated with a high plasma interferon gamma-inducible protein 10 level in methadone-maintained patients with urine test positive for morphine.

  • Authors : Liu TH; Center for Neuropsychiatric Research, National Health Research Institutes, Miaoli, Taiwan.; Chung RH

Subjects: Mutation, Missense* ; Opiate Substitution Treatment*; Chemokine CXCL10/Chemokine CXCL10/Chemokine CXCL10/*blood

  • Source: PloS one [PLoS One] 2017 Nov 16; Vol. 12 (11), pp. e0187639. Date of Electronic Publication: 2017 Nov 16 (Print Publication: 2017).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Identification of the PLA2G6 c.1579G>A Missense Mutation in Papillon Dog Neuroaxonal Dystrophy Using Whole Exome Sequencing Analysis.

  • Authors : Tsuboi M; Laboratory of Veterinary Pathology, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo, Japan.; Watanabe M

Subjects: Exome* ; Mutation, Missense*; Dog Diseases/Dog Diseases/Dog Diseases/*genetics

  • Source: PloS one [PLoS One] 2017 Jan 20; Vol. 12 (1), pp. e0169002. Date of Electronic Publication: 2017 Jan 20 (Print Publication: 2017).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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  • 1-10 of  11,611 results for ""MISSENSE mutation""