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Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome.

• Authors : Roston TM; Division of Cardiology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Centre for Cardiovascular Innovation, Division of Cardiology, Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.

Subjects: Mutation*; Death, Sudden, Cardiac/Death, Sudden, Cardiac/Death, Sudden, Cardiac/*prevention & control ; Ryanodine Receptor Calcium Release Channel/Ryanodine Receptor Calcium Release Channel/Ryanodine Receptor Calcium Release Channel/*genetics Polymorphic catecholergic ventricular tachycardia

• Source: JAMA cardiology [JAMA Cardiol] 2022 Jan 01; Vol. 7 (1), pp. 84-92.Publisher: American Medical Association Country of Publication: United States NLM ID: 101676033 Publication Model: Print Cited Medium: Internet ISSN:

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Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis.

• Authors : Shauer A; Heart Institute Hadassah-Hebrew University Medical Center Jerusalem Israel.; Shor O

Subjects: Mutation*; DNA/DNA/DNA/*genetics ; Death, Sudden, Cardiac/Death, Sudden, Cardiac/Death, Sudden, Cardiac/*epidemiology Polymorphic catecholergic ventricular tachycardia

• Source: Journal of the American Heart Association [J Am Heart Assoc] 2021 Mar 16; Vol. 10 (6), pp. e017128. Date of Electronic Publication: 2021 Mar 09.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives.

• Authors : Mak CM; Department of Pathology, Princess Margaret Hospital, Kwai Chung, Hong Kong.; Mok NS

Subjects: High-Throughput Nucleotide Sequencing* ; Mutation*; Arrhythmias, Cardiac/Arrhythmias, Cardiac/Arrhythmias, Cardiac/*genetics

• Source: Hong Kong medical journal = Xianggang yi xue za zhi [Hong Kong Med J] 2019 Feb; Vol. 25 (1), pp. 21-9. Date of Electronic Publication: 2019 Jan 23.Publisher: Hong Kong Academy of Medicine Press Country of Publication: China NLM ID: 9512509 Publication Model: Print-Electronic Cited Medium: Internet

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KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

• Authors : Chen S; Center for Molecular Genetics, Department of Molecular Cardiology, Lerner Research Institute, The Cleveland Clinic Foundation, OH 44195, USA.; Zhang L

Subjects: Potassium Channels, Voltage-Gated*; Arrhythmias, Cardiac/Arrhythmias, Cardiac/Arrhythmias, Cardiac/*genetics ; Death, Sudden, Cardiac/Death, Sudden, Cardiac/Death, Sudden, Cardiac/*etiology

• Source: Clinical genetics [Clin Genet] 2003 Apr; Vol. 63 (4), pp. 273-82.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print Cited Medium: Print ISSN: 0009-9163 (Print)

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Brugada syndrome without mutation of the cardiac sodium channel gene in a Taiwanese patient.

• Authors : Chen SM; First Cardiovascular Division, Department of Internal Medicine, Chang Gung Memorial Hospital, Chang Gung University, 199 Tung-Hwa North Road, Taipei, Taiwan.; Kuo CT

Subjects: Death, Sudden, Cardiac* ; Electrocardiography* ; Mutation*

• Source: Journal of the Formosan Medical Association = Taiwan yi zhi [J Formos Med Assoc] 2000 Nov; Vol. 99 (11), pp. 860-2.Publisher: Formosan Medical Association, Elsevier Country of Publication: Singapore NLM ID: 9214933 Publication Model: Print Cited Medium: Print

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Agricola

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Identification of an HLA-A*11:01-restricted neoepitope of mutant PIK3CA and its specific T cell receptors for cancer immunotherapy targeting hotspot driver mutations.

• Authors : Shen M; Department of Breast and Thyroid Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.; Chen S

Subjects: Class I Phosphatidylinositol 3-Kinases*/Class I Phosphatidylinositol 3-Kinases*/Class I Phosphatidylinositol 3-Kinases*/genetics ; Class I Phosphatidylinositol 3-Kinases*/Class I Phosphatidylinositol 3-Kinases*/Class I Phosphatidylinositol 3-Kinases*/immunology ; Receptors, Antigen, T-Cell*/Receptors, Antigen, T-Cell*/Receptors, Antigen, T-Cell*/immunology

• Source: Cancer immunology, immunotherapy : CII [Cancer Immunol Immunother] 2024 Jun 04; Vol. 73 (8), pp. 150. Date of Electronic Publication: 2024 Jun 04.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 8605732 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0851

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Generation of a human induced pluripotent stem cell line harboring heteroplasmic m.3243A > G mutation in MT-TL1 gene.

• Authors : Song M; Department of Cardiovascular Surgery of the First Affiliated Hospital & Institute for Cardiovascular Science, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Protection, Suzhou Medical College, Soochow University, Suzhou 215000, China.; Chen S

Subjects: Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/metabolism ; Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/Induced Pluripotent Stem Cells*/cytology ; Mutation*

• Source: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103387. Date of Electronic Publication: 2024 Mar 12.Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753

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STAT5B mutations in myeloid neoplasms differ by disease subtypes but characterize a subset of chronic myeloid neoplasms with eosinophilia and/or basophilia.

• Authors : Yin CC; Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston, TX. .; Tam W

Subjects: STAT5 Transcription Factor*/STAT5 Transcription Factor*/STAT5 Transcription Factor*/genetics ; Mutation* ; Eosinophilia*/Eosinophilia*/Eosinophilia*/genetics

• Source: Haematologica [Haematologica] 2024 Jun 01; Vol. 109 (6), pp. 1825-1835. Date of Electronic Publication: 2024 Jun 01.Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Electronic Cited Medium: Internet ISSN:

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Discovery of the Clinical Candidate Sonrotoclax (BGB-11417), a Highly Potent and Selective Inhibitor for Both WT and G101V Mutant Bcl-2.

• Authors : Guo Y; Xue H; Hu N

Subjects: Proto-Oncogene Proteins c-bcl-2*/Proto-Oncogene Proteins c-bcl-2*/Proto-Oncogene Proteins c-bcl-2*/antagonists & inhibitors ; Proto-Oncogene Proteins c-bcl-2*/Proto-Oncogene Proteins c-bcl-2*/Proto-Oncogene Proteins c-bcl-2*/metabolism ; Proto-Oncogene Proteins c-bcl-2*/Proto-Oncogene Proteins c-bcl-2*/Proto-Oncogene Proteins c-bcl-2*/genetics

• Source: Journal of medicinal chemistry [J Med Chem] 2024 May 23; Vol. 67 (10), pp. 7836-7858. Date of Electronic Publication: 2024 May 02.Publisher: American Chemical Society Country of Publication: United States NLM ID: 9716531 Publication Model: Print-Electronic Cited Medium: Internet

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