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Academic Journal

A novel dual probe-based method for mutation detection using isothermal amplification.

  • Authors : Nandu N; Revvity, Inc., Waltham, MA, United States of America.; Miller M

Subjects: Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/genetics ; Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/drug effects ; Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/isolation & purification LAMP assay

  • Source: PloS one [PLoS One] 2024 Oct 22; Vol. 19 (10), pp. e0309541. Date of Electronic Publication: 2024 Oct 22 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

CRISPR/Cas9 gene editing in induced pluripotent stem cells to investigate the feline hypertrophic cardiomyopathy causing MYBPC3/R820W mutation.

  • Authors : Dutton LC; Department of Clinical Science and Services, Royal Veterinary College, Hatfield, London, United Kingdom.; Dudhia J

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/genetics ; Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/Cardiomyopathy, Hypertrophic*/pathology

  • Source: PloS one [PLoS One] 2024 Oct 10; Vol. 19 (10), pp. e0311761. Date of Electronic Publication: 2024 Oct 10 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Repeated rebiopsy for detection of EGFR T790M mutation in patients with advanced-stage lung adenocarcinoma: Associated factors and treatment outcomes of Osimertinib.

  • Authors : Kim T; Department of Medicine, Division of Pulmonary and Critical Care Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.; Department of Medicine, Kosin University Gospel Hospital, Kosin University College of Medicine, Busan, Republic of Korea.

Subjects: Acrylamides*/Acrylamides*/Acrylamides*/therapeutic use ; ErbB Receptors*/ErbB Receptors*/ErbB Receptors*/genetics ; Aniline Compounds*/Aniline Compounds*/Aniline Compounds*/therapeutic use

  • Source: PloS one [PLoS One] 2024 Sep 19; Vol. 19 (9), pp. e0310079. Date of Electronic Publication: 2024 Sep 19 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

A familial Alzheimer's disease associated mutation in presenilin-1 mediates amyloid-beta independent cell specific neurodegeneration.

  • Authors : Parvand M; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, British Columbia, Canada.; Liang JJH

Subjects: Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/genetics ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/metabolism ; Alzheimer Disease*/Alzheimer Disease*/Alzheimer Disease*/pathology

  • Source: PloS one [PLoS One] 2024 Sep 06; Vol. 19 (9), pp. e0289435. Date of Electronic Publication: 2024 Sep 06 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Identification of breast cancer-associated PIK3CA H1047R mutation in blood circulation using an asymmetric PCR assay.

  • Authors : Thao DT; Center for Genetic Consultation and Cancer Screening, 108 Military Center Hospital, Hai Ba Trung, Hanoi, Vietnam.; University of Science and Technology of Hanoi, Cau Giay, Hanoi, Vietnam.

Subjects: Class I Phosphatidylinositol 3-Kinases*/Class I Phosphatidylinositol 3-Kinases*/Class I Phosphatidylinositol 3-Kinases*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/blood

  • Source: PloS one [PLoS One] 2024 Aug 28; Vol. 19 (8), pp. e0309209. Date of Electronic Publication: 2024 Aug 28 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

The pattern of rpoB gene mutation of Mycobacterium tuberculosis and predictors of rifampicin resistance detected by GeneXpert MTB/RIF assay in Tanzania.

  • Authors : Torokaa PR; Muhimbili University of Health and Allied Sciences, School of Public Health and Social Sciences, Dar es Salaam, Tanzania.; Tanzania Field Epidemiology and Laboratory Training Program, Dar es Salaam, Tanzania.

Subjects: Rifampin*/Rifampin*/Rifampin*/pharmacology ; Rifampin*/Rifampin*/Rifampin*/therapeutic use ; Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/Mycobacterium tuberculosis*/genetics

  • Source: PloS one [PLoS One] 2024 Aug 26; Vol. 19 (8), pp. e0296563. Date of Electronic Publication: 2024 Aug 26 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.

  • Authors : Hong JS; Emory University School of Medicine, Atlanta, Georgia, United States of America.; Tindall JM

Subjects: Cystic Fibrosis Transmembrane Conductance Regulator*/Cystic Fibrosis Transmembrane Conductance Regulator*/Cystic Fibrosis Transmembrane Conductance Regulator*/genetics ; Polymorphism, Single Nucleotide* ; Mutation*

  • Source: PloS one [PLoS One] 2024 Jul 18; Vol. 19 (7), pp. e0305832. Date of Electronic Publication: 2024 Jul 18 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

Mapping mutational fitness effects across the coxsackievirus B3 proteome reveals distinct profiles of mutation tolerability.

Subjects: Enterovirus B, Human*/Enterovirus B, Human*/Enterovirus B, Human*/genetics ; Proteome*/Proteome*/Proteome*/metabolism ; Mutation*

  • Source: PLoS biology [PLoS Biol] 2024 Jul 16; Vol. 22 (7), pp. e3002709. Date of Electronic Publication: 2024 Jul 16 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101183755 Publication Model: eCollection

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Academic Journal

Improving the performance of mutation-based evolving artificial neural networks with self-adaptive mutations.

  • Authors : Hiraga M; Faculty of Mechanical Engineering, Kyoto Institute of Technology, Kyoto, Japan.; Komura M

Subjects: Neural Networks, Computer* ; Mutation* ; Algorithms*

  • Source: PloS one [PLoS One] 2024 Jul 15; Vol. 19 (7), pp. e0307084. Date of Electronic Publication: 2024 Jul 15 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection

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Academic Journal

A single gene mutation underpins metabolic adaptation and acquisition of filamentous competence in the emerging fungal pathogen Candida auris.

  • Authors : Deng Y; State Key Laboratory of Genetic Engineering, School of Life Sciences, Department of Infectious Diseases, Huashan Hospital, Fudan University, Shanghai, China.; Department of Dermatology, Shanghai Key Laboratory of Molecular Medical Mycology, Second Affiliated Hospital of Naval Medical University, Shanghai, China.

Subjects: Candidiasis*/Candidiasis*/Candidiasis*/microbiology ; Mutation* ; Fungal Proteins*/Fungal Proteins*/Fungal Proteins*/genetics

  • Source: PLoS pathogens [PLoS Pathog] 2024 Jul 08; Vol. 20 (7), pp. e1012362. Date of Electronic Publication: 2024 Jul 08 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection

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