نتائج البحث

A Possible Phenotype-to-Genotype Association of Novel Single-Nucleotide Variants in the Coding Exons of the ZNF469 Gene to Arterial Aneurysmal and Dissection Diseases.

• Authors : Wolf A; Sathyamoorthy Laboratory, Department of Medicine, Burnett School of Medicine at TCU, Fort Worth, TX 76104, USA.; Moore P

Subjects: Exons*/Exons*/Exons*/genetics ; Polymorphism, Single Nucleotide* ; Aortic Dissection*/Aortic Dissection*/Aortic Dissection*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 23; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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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:

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MET Exon 14 Skipping and Novel Actionable Variants: Diagnostic and Therapeutic Implications in Latin American Non-Small-Cell Lung Cancer Patients.

• Authors : Rivas S; Centro de Genética y Genómica, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago 7550000, Chile.; Sepúlveda RV

Subjects: Proto-Oncogene Proteins c-met*/Proto-Oncogene Proteins c-met*/Proto-Oncogene Proteins c-met*/genetics ; Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/genetics ; Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/drug therapy

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 22; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 22.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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In-Frame Deletion of Dystrophin Exons 8–50 Results in DMD Phenotype.

• Authors : Egorova, Tatiana V.^1,2 (AUTHOR) ; Galkin, Ivan I.^2,3,4 (AUTHOR); Velyaev, Oleg A.¹ (AUTHOR)

Subjects: *DYSTROPHIN; *BECKER muscular dystrophy; *GENOME editing

• Source: International Journal of Molecular Sciences. Jun2023, Vol. 24 Issue 11, p9117. 19p.

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Atypical Exon 2/3 Mutants G48C, Q43K, and E37K Present Oncogenic Phenotypes Distinct from Characterized NRAS Variants.

• Authors : Fran MAG; The Graduate School, Thomas Aquinas Research Complex, University of Santo Tomas, España, Manila 1008, Philippines.; Leaño DMG

Subjects: Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/genetics ; Membrane Proteins*/Membrane Proteins*/Membrane Proteins*/metabolism ; GTP Phosphohydrolases*/GTP Phosphohydrolases*/GTP Phosphohydrolases*/genetics

• Source: Cells [Cells] 2024 Oct 12; Vol. 13 (20). Date of Electronic Publication: 2024 Oct 12.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium:

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The Importance of Suppressing Pathological Periostin Splicing Variants with Exon 17 in Both Stroma and Cancer.

• Authors : Shibata K; Department of Advanced Molecular Therapy, Graduate School of Medicine/Faculty of Medicine, Osaka University, Suita 565-0871, Japan.; Koibuchi N

Subjects: Cell Adhesion Molecules*/Cell Adhesion Molecules*/Cell Adhesion Molecules*/metabolism ; Cell Adhesion Molecules*/Cell Adhesion Molecules*/Cell Adhesion Molecules*/genetics ; Exons*/Exons*/Exons*/genetics

• Source: Cells [Cells] 2024 Aug 23; Vol. 13 (17). Date of Electronic Publication: 2024 Aug 23.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium:

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Experimental Study: The Development of a Novel Treatment for Chemotherapy-Resistant Tongue Cancer with the Inhibition of the Pathological Periostin Splicing Variant 1-2 with Exon 21.

• Authors : Ikebe S; Graduate School of Dentistry (Second Department of Oral and Maxillofacial Surgery), Osaka Dental University, Hirakata 573-1121, Japan.; Department of Advanced Molecular Therapy, Graduate School of Medicine, Faculty of Medicine, Osaka University, Suita 565-0871, Japan.

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

• Source: Cells [Cells] 2024 Aug 13; Vol. 13 (16). Date of Electronic Publication: 2024 Aug 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium:

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Is Exon Skipping a Viable Therapeutic Approach for Vascular Ehlers-Danlos Syndrome with Mutations in COL3A1 Exon 10 or 15?

• Authors : Utama S; Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.; Centre of Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia.

Subjects: Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/genetics ; Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/Ehlers-Danlos Syndrome*/therapy ; Collagen Type III*/Collagen Type III*/Collagen Type III*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 13; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Functional Characterization of Splice Variants in the Diagnosis of Albinism.

• Authors : Diallo M; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Courdier C

Subjects: Exons*/Exons*/Exons*/genetics ; Albinism*/Albinism*/Albinism*/genetics ; Albinism*/Albinism*/Albinism*/diagnosis

• Source: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 08; Vol. 25 (16). Date of Electronic Publication: 2024 Aug 08.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium:

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Interaction of the C9orf72 -Amyotrophic Lateral Sclerosis-Related Proline–Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment

• Authors : Fu, Ru-Huei^1,2,3 (AUTHOR) ; Chen, Hui-Jye¹ (AUTHOR); Hong, Syuan-Yu^1,4,5 (AUTHOR)

• Source: Cells (2073-4409). Oct2023, Vol. 12 Issue 20, p2476. 21p.

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