نتائج البحث

De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.

• Authors : Al Delbany D; Research Group Genetics, Reproduction and Development, Vrije Universiteit Brussel, Laarbeeklaan 103, 1090 Jette, Belgium.; Ghosh MS

Subjects: Chromosome Aberrations* ; Mutation*/Mutation*/Mutation*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/genetics

• Source: Cells [Cells] 2024 Aug 21; Vol. 13 (16). Date of Electronic Publication: 2024 Aug 21.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409

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A machine learning enhanced EMS mutagenesis probability map for efficient identification of causal mutations in Caenorhabditis elegans.

• Authors : Guo Z; Tsinghua-Peking Center for Life Sciences, Beijing Frontier Research Center for Biological Structure, McGovern Institute for Brain Research, State Key Laboratory of Membrane Biology, School of Life Sciences and MOE Key Laboratory for Protein Science, Tsinghua University, Beijing, China.; Wang S

Subjects: Caenorhabditis elegans*/Caenorhabditis elegans*/Caenorhabditis elegans*/genetics ; Machine Learning* ; Ethyl Methanesulfonate*

• Source: PLoS genetics [PLoS Genet] 2024 Aug 26; Vol. 20 (8), pp. e1011377. Date of Electronic Publication: 2024 Aug 26 (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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Long-Term Remission in T315I+ Relapsed Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia with Blinatumomab and Allogeneic Stem Cell Transplantation: Two Case Studies.

• Authors : Ziyang Huang¹; Yu Zhang¹; Jingjing Chen¹

• Source: American Journal of Case Reports. 8/5/2024, Vol. 25, p1-5. 5p.

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A case of Ph + acute lymphoblastic leukemia and EGFR mutant lung adenocarcinoma synchronous overlap: may one TKI drug solve two diseases?

• Authors : Zhang Q; Department of Hematology, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.; Department of Respiratory Disease, Affiliated People's Hospital of Jiangsu University, Zhenjiang, Jiangsu, People's Republic of China.

Subjects: ErbB Receptors*/ErbB Receptors*/ErbB Receptors*/genetics ; Protein Kinase Inhibitors*/Protein Kinase Inhibitors*/Protein Kinase Inhibitors*/therapeutic use ; Precursor Cell Lymphoblastic Leukemia-Lymphoma*/Precursor Cell Lymphoblastic Leukemia-Lymphoma*/Precursor Cell Lymphoblastic Leukemia-Lymphoma*/genetics

• Source: BMC medical genomics [BMC Med Genomics] 2024 Jul 08; Vol. 17 (1), pp. 182. Date of Electronic Publication: 2024 Jul 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Next-generation sequencing for BCR-ABL1 kinase domain mutations in adult patients with Philadelphia chromosome-positive acute lymphoblastic leukemia: A position paper.

• Authors : Soverini S; Institute of Hematology 'Lorenzo e Ariosto Seràgnoli', Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy.; Albano F

Subjects: Mutation* ; Philadelphia Chromosome*; Drug Resistance, Neoplasm/Drug Resistance, Neoplasm/Drug Resistance, Neoplasm/*genetics

• Source: Cancer medicine [Cancer Med] 2020 May; Vol. 9 (9), pp. 2960-2970. Date of Electronic Publication: 2020 Mar 10.Publisher: John Wiley & Sons Ltd Country of Publication: United States NLM ID: 101595310 Publication Model: Print-Electronic Cited Medium: Internet

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Molecular analysis of low-level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.

• Authors : Kawai M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.; Department of Clinical Genetics, Fujita Health University Hospital, Toyoake, Japan.

Subjects: Mosaicism* ; Mutation*; I-kappa B Kinase/I-kappa B Kinase/I-kappa B Kinase/*genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Dec; Vol. 8 (12), pp. e1531. Date of Electronic Publication: 2020 Oct 21.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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An EMS-induced mutation in a tetratricopeptide repeat-like superfamily protein gene (Ghir_A12G008870) on chromosome A12 is responsible for the li y short fiber phenotype in cotton.

• Authors : Fang DD; Cotton Fiber Bioscience Research Unit, USDA-ARS-SRRC, New Orleans, LA, 70124, USA. .; Naoumkina M

Subjects: Cotton Fiber* ; Genes, Plant* ; Tetratricopeptide Repeat*

• Source: TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2020 Jan; Vol. 133 (1), pp. 271-282. Date of Electronic Publication: 2019 Oct 17.Publisher: Springer Country of Publication: Germany NLM ID: 0145600 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2242

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Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy.

• Authors : Chaudhari, Sima¹ (AUTHOR); Acharya, Lavanya Prakash¹ (AUTHOR); Jasti, Dushyanth Babu² (AUTHOR)

• Source: International Journal of Genomics. 8/10/2024, Vol. 2024, p1-15. 15p.

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Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation.

• Authors : Kankuri-Tammilehto M; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.; Institute of Biomedicine, University of Turku, Turku, Finland.

Subjects: Mutation* ; Phenotype* ; RNA Splice Sites* Telomeric 22q13 Monosomy Syndrome

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 Dec; Vol. 9 (12), pp. e1780. Date of Electronic Publication: 2021 Aug 09.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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New Role for an Old Protein: An Educational Primer for Use with "The Identification of a Novel Mutant Allele of topoisomerase II in Caenorhabditis elegans Reveals a Unique Role in Chromosome Segregation During Spermatogenesis".

• Authors : Boateng R; Department of Biology, Howard University, Washington, DC 20059.; Allen AK

Subjects: Alleles* ; Chromosome Segregation* ; Mutation*

• Source: Genetics [Genetics] 2018 Jan; Vol. 208 (1), pp. 79-88.Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN:

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