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  • 1-10 ل  68,165 نتائج ل ""GENETICS""

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Subject : mutation
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Academic Journal

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.

  • Authors : Li X; Department of Neurosurgery, The Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China. .; Guo S

Subjects: Receptors, GABA-A*/Receptors, GABA-A*/Receptors, GABA-A*/genetics ; Seizures, Febrile*/Seizures, Febrile*/Seizures, Febrile*/genetics ; Mutation*/Mutation*/Mutation*/genetics

  • Source: Journal of translational medicine [J Transl Med] 2024 Aug 14; Vol. 22 (1), pp. 767. Date of Electronic Publication: 2024 Aug 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Academic Journal

Sarcomatous transformation of IDH-mutant astrocytoma matching to methylation class oligosarcoma following embolization, a case report.

  • Authors : Landvater R; Department of Pathology, University of Michigan Medical School, 2800 Plymouth Road, Ann Arbor, MI, 48109, USA.; Tripathy A

Subjects: Astrocytoma*/Astrocytoma*/Astrocytoma*/genetics ; Astrocytoma*/Astrocytoma*/Astrocytoma*/pathology ; Astrocytoma*/Astrocytoma*/Astrocytoma*/therapy

  • Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Dec 20; Vol. 12 (1), pp. 196. Date of Electronic Publication: 2024 Dec 20.Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960

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Academic Journal

Two highly selected mutations in the tandemly duplicated CYP6P4a and CYP6P4b genes drive pyrethroid resistance in Anopheles funestus in West Africa.

  • Authors : Tatchou-Nebangwa NMT; Centre for Research in Infectious Diseases (CRID), P.O. BOX 13591, Yaounde, Cameroon. .; Department of Biochemistry and Molecular Biology, Faculty of Science, University of Buea, P.O. Box 63, Buea, Cameroon. .

Subjects: Anopheles*/Anopheles*/Anopheles*/genetics ; Anopheles*/Anopheles*/Anopheles*/drug effects ; Pyrethrins*/Pyrethrins*/Pyrethrins*/pharmacology

  • Source: BMC biology [BMC Biol] 2024 Dec 18; Vol. 22 (1), pp. 286. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101190720 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7007

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Academic Journal

Proteomic and metabolomic exploration in relapse acute myeloid leukemia bone marrow supernatant combined with genetic characteristics.

  • Authors : Ji X; Department of Laboratory Medicine, Chongqing General Hospital, Chongqing University, No.118, Xingguang Avenue, Liangjiang New Area, Chongqing, 401147, China.; Department of Laboratory Medicine, Chongqing General Hospital, No.118, Xingguang Avenue, Liangjiang New Area, Chongqing, 401147, China.

Subjects: Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/genetics ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/metabolism ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/pathology

  • Source: BMC cancer [BMC Cancer] 2024 Dec 18; Vol. 24 (1), pp. 1545. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407

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Academic Journal

Plasma mutation profile of precursor lesions and colorectal cancer using the Oncomine Colon cfDNA Assay.

  • Authors : Dos Reis MB; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil.; Dos Santos W

Subjects: Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/blood ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/diagnosis

  • Source: BMC cancer [BMC Cancer] 2024 Dec 18; Vol. 24 (1), pp. 1547. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407

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Academic Journal

Emerging mutation in SARS-CoV-2 facilitates escape from NK cell recognition and associates with enhanced viral fitness.

  • Authors : Bilev E; Center for Infectious Medicine, Department of Medicine Huddinge, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Wild N

Subjects: SARS-CoV-2*/SARS-CoV-2*/SARS-CoV-2*/immunology ; SARS-CoV-2*/SARS-CoV-2*/SARS-CoV-2*/genetics ; Killer Cells, Natural*/Killer Cells, Natural*/Killer Cells, Natural*/immunology SARS-CoV-2 variants

  • Source: PLoS pathogens [PLoS Pathog] 2024 Dec 09; Vol. 20 (12), pp. e1012755. Date of Electronic Publication: 2024 Dec 09 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Hsp90 and cochaperones have two genetically distinct roles in regulating eEF2 function.

  • Authors : Fulton MD; Department of Biological Sciences, University of Idaho, Moscow, Idaho, United States of America.; Yama DJ

Subjects: HSP90 Heat-Shock Proteins*/HSP90 Heat-Shock Proteins*/HSP90 Heat-Shock Proteins*/genetics ; HSP90 Heat-Shock Proteins*/HSP90 Heat-Shock Proteins*/HSP90 Heat-Shock Proteins*/metabolism ; Saccharomyces cerevisiae*/Saccharomyces cerevisiae*/Saccharomyces cerevisiae*/genetics

  • Source: PLoS genetics [PLoS Genet] 2024 Dec 09; Vol. 20 (12), pp. e1011508. Date of Electronic Publication: 2024 Dec 09 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Molecular Profiling of Endocrine Resistance in HR+/HER2-Metastatic Breast Cancer: Insights from Extracellular Vesicles-Derived DNA and ctDNA in Liquid Biopsies.

  • Authors : Martínez-Rodríguez A; 'Clinical and Translational Research in Oncology' Group, Molecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria Hospital Clinico San Carlos (IdISSC), 28040 Madrid, Spain.; Department of Medical Oncology, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria Hospital Clinico San Carlos (IdISSC), 28040 Madrid, Spain.

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/drug therapy ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/pathology

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 04; Vol. 25 (23). Date of Electronic Publication: 2024 Dec 04.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Revisiting mutational resistance to ampicillin and cefotaxime in Haemophilus influenzae.

  • Authors : Diricks M; Molecular and Experimental Mycobacteriology, Research Center Borstel, Borstel, Germany.; German Center for Infection Research, Partner Site Hamburg-Lübeck-Borstel-Riems, Borstel-Lübeck, Germany.

Subjects: Ampicillin*/Ampicillin*/Ampicillin*/pharmacology ; Ampicillin*/Ampicillin*/Ampicillin*/therapeutic use ; Anti-Bacterial Agents*/Anti-Bacterial Agents*/Anti-Bacterial Agents*/pharmacology

  • Source: Genome medicine [Genome Med] 2024 Dec 04; Vol. 16 (1), pp. 140. Date of Electronic Publication: 2024 Dec 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

  • Authors : Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France.

Subjects: Connectin*/Connectin*/Connectin*/genetics ; Exons*/Exons*/Exons*/genetics ; Mutation*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 03; Vol. 25 (23). Date of Electronic Publication: 2024 Dec 03.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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  • 1-10 ل  68,165 نتائج ل ""GENETICS""