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Reduced BAP1 activity prevents ASXL1 truncation-driven myeloid malignancy in vivo.

• Authors : Guo Y; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA.; Department of Biochemistry and Molecular Biology, University of Miami Miller School of Medicine, Miami, FL, USA.

Subjects: Gene Expression Regulation, Leukemic* ; Mutation*; Leukemia, Experimental/Leukemia, Experimental/Leukemia, Experimental/*prevention & control

• Source: Leukemia [Leukemia] 2018 Aug; Vol. 32 (8), pp. 1834-1837. Date of Electronic Publication: 2018 Apr 02.Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium:

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Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancer.

• Authors : Fernandes PH; Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.; Saam J

Subjects: Mutation*; Breast Neoplasms/Breast Neoplasms/Breast Neoplasms/*genetics ; Breast Neoplasms, Male/Breast Neoplasms, Male/Breast Neoplasms, Male/*genetics

• Source: Cancer [Cancer] 2014 Apr 01; Vol. 120 (7), pp. 963-7. Date of Electronic Publication: 2014 Jan 10.Publisher: Wiley Country of Publication: United States NLM ID: 0374236 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0142

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Mutations in prickle orthologs cause seizures in flies, mice, and humans.

• Authors : Tao H; Division of Morphogenesis, National Institute for Basic Biology, 38 Nishigonaka, Myodaiji, Okazaki, Japan.; Manak JR

Subjects: Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics ; Drosophila Proteins/Drosophila Proteins/Drosophila Proteins/*genetics

• Source: American journal of human genetics [Am J Hum Genet] 2011 Feb 11; Vol. 88 (2), pp. 138-49. Date of Electronic Publication: 2011 Feb 03.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

• Authors : Bassuk AG; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.; Wallace RH

Subjects: Homozygote* ; Mutation*; Ataxia/Ataxia/Ataxia/*genetics

• Source: American journal of human genetics [Am J Hum Genet] 2008 Nov; Vol. 83 (5), pp. 572-81. Date of Electronic Publication: 2008 Oct 30.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax.

• Authors : Ren HZ; Department of Pathology, Nanjing University Medical School, Nanjing, Jiangsu, China.; Zhu CC

Subjects: Mutation*; Pneumothorax/Pneumothorax/Pneumothorax/*genetics ; Proto-Oncogene Proteins/Proto-Oncogene Proteins/Proto-Oncogene Proteins/*genetics

• Source: Clinical genetics [Clin Genet] 2008 Aug; Vol. 74 (2), pp. 178-83. Date of Electronic Publication: 2008 May 25.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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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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