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Academic Journal

[The clinicopathological features of adult thyroid tumors with DICER1 mutation].

  • Authors : Tang J; Department of Pathology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China.; Huang JJ

Subjects: Ribonuclease III*/Ribonuclease III*/Ribonuclease III*/genetics ; DEAD-box RNA Helicases*/DEAD-box RNA Helicases*/DEAD-box RNA Helicases*/genetics ; Thyroid Neoplasms*/Thyroid Neoplasms*/Thyroid Neoplasms*/genetics

  • Source: Zhonghua yi xue za zhi [Zhonghua Yi Xue Za Zhi] 2024 May 14; Vol. 104 (18), pp. 1623-1627.Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7511141 Publication Model: Print Cited Medium: Print ISSN: 0376-2491 (Print)

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Academic Journal

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.

  • Authors : Grasberger H; Department of Internal Medicine, Medical School, University of Michigan, Ann Arbor, MI, USA.; Dumitrescu AM

Subjects: MicroRNAs*/MicroRNAs*/MicroRNAs*/genetics ; Mutation* ; Microsatellite Repeats*/Microsatellite Repeats*/Microsatellite Repeats*/genetics

  • Source: Nature genetics [Nat Genet] 2024 May; Vol. 56 (5), pp. 877-888. Date of Electronic Publication: 2024 May 07.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.

  • Authors : Wang J; Department of Nephrology, Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center of Child Health, Hangzhou, China.; Yu Q

Subjects: Progeria*/Progeria*/Progeria*/genetics ; Progeria*/Progeria*/Progeria*/epidemiology ; Lamin Type A*/Lamin Type A*/Lamin Type A*/genetics

  • Source: Pediatric research [Pediatr Res] 2024 Apr; Vol. 95 (5), pp. 1356-1362. Date of Electronic Publication: 2024 Jan 08.Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

Clinicopathologic and Molecular Characterization of Xanthomatous Giant Cell Renal Cell Carcinomas: Further Support for a Close Morphologic Spectrum to Eosinophilic Solid and Cystic Renal Cell Carcinomas.

  • Authors : Xu Y; Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.; Department of Pathology, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.

Subjects: Kidney Neoplasms*/Kidney Neoplasms*/Kidney Neoplasms*/genetics ; Kidney Neoplasms*/Kidney Neoplasms*/Kidney Neoplasms*/pathology ; Kidney Neoplasms*/Kidney Neoplasms*/Kidney Neoplasms*/surgery

  • Source: The American journal of surgical pathology [Am J Surg Pathol] 2024 Jun 01; Vol. 48 (6), pp. 662-670. Date of Electronic Publication: 2024 Apr 09.Publisher: Wolters Kluwer Health, Inc Country of Publication: United States NLM ID: 7707904 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

De novo mutations disturb early brain development more frequently than common variants in schizophrenia.

  • Authors : Itai T; Center for Precision Health, School of Biomedical Informatics, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Jia P

Subjects: Schizophrenia*/Schizophrenia*/Schizophrenia*/genetics ; Schizophrenia*/Schizophrenia*/Schizophrenia*/pathology ; Schizophrenia*/Schizophrenia*/Schizophrenia*/physiopathology

  • Source: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.

  • Authors : Maharjan DT; Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, School of Biomedical Engineering, Shanghai Jiao Tong University, Shanghai 200240, China.; Song W

Subjects: Mutation* ; Protein Interaction Domains and Motifs*/Protein Interaction Domains and Motifs*/Protein Interaction Domains and Motifs*/genetics; Humans

  • Source: Biomolecules [Biomolecules] 2022 Nov 06; Vol. 12 (11). Date of Electronic Publication: 2022 Nov 06.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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Academic Journal

Diverse kinase alterations and myeloid-associated mutations in adult histiocytosis.

  • Authors : Chen J; Department of Hematology, Peking Union Medical Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.; Zhao AL

Subjects: Mutation*; Biomarkers, Tumor/Biomarkers, Tumor/Biomarkers, Tumor/*genetics ; Histiocytosis/Histiocytosis/Histiocytosis/*pathology

  • Source: Leukemia [Leukemia] 2022 Feb; Vol. 36 (2), pp. 573-576. Date of Electronic Publication: 2021 Oct 05.Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium:

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Editorial & Opinion

Increased immune escape of the new SARS-CoV-2 variant of concern Omicron.

  • Authors : Hu J; Key Laboratory of Molecular Biology for Infectious Diseases (Ministry of Education), Institute for Viral Hepatitis, Department of Infectious Diseases, the Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.; Peng P

Subjects: COVID-19/COVID-19/COVID-19/*immunology ; Immune Evasion/Immune Evasion/Immune Evasion/*immunology ; Mutation/Mutation/Mutation/*immunology SARS-CoV-2 variants

  • Source: Cellular & molecular immunology [Cell Mol Immunol] 2022 Feb; Vol. 19 (2), pp. 293-295. Date of Electronic Publication: 2022 Jan 11.Publisher: Chinese Society of Immunology;; _b Nature Pub. Group Country of Publication: China NLM ID: 101242872 Publication Model: Print-Electronic Cited

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Academic Journal

Hunting for Beneficial Mutations: Conditioning on SIFT Scores When Estimating the Distribution of Fitness Effect of New Mutations.

  • Authors : Chen J; College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China.; Bataillon T

Subjects: Genetic Fitness* ; Mutation*; Evolution, Molecular

  • Source: Genome biology and evolution [Genome Biol Evol] 2022 Jan 04; Vol. 14 (1).Publisher: Oxford University Press Country of Publication: England NLM ID: 101509707 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Slc20a1b is essential for hematopoietic stem/progenitor cell expansion in zebrafish.

  • Authors : Chen J; Department of Developmental Biology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, China.; Li G

Subjects: Mutation*; Hematopoietic Stem Cells/Hematopoietic Stem Cells/Hematopoietic Stem Cells/*physiology ; Sodium-Phosphate Cotransporter Proteins, Type III/Sodium-Phosphate Cotransporter Proteins, Type III/Sodium-Phosphate Cotransporter Proteins, Type III/*physiology

  • Source: Science China. Life sciences [Sci China Life Sci] 2021 Dec; Vol. 64 (12), pp. 2186-2201. Date of Electronic Publication: 2021 Mar 16.Publisher: Science China Press, co-published with Springer Country of Publication: China NLM ID: 101529880 Publication Model: Print-Electronic Cited Medium:

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