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Academic Journal

Ac 3 4FGlcNAz is an effective metabolic chemical reporter for O-GlcNAcylated proteins with decreased S-glyco-modification.

  • Authors : Wang J; Joint National Laboratory for Antibody Drug Engineering, The First Affiliated Hospital of Henan University, Henan University, Kaifeng 475000, China.; Cao W

Subjects: Protein Processing, Post-Translational* ; Proteins*/Proteins*/Proteins*/chemistry; Acetylglucosamine/Acetylglucosamine/Acetylglucosamine/chemistry

  • Source: Bioorganic chemistry [Bioorg Chem] 2023 Feb; Vol. 131, pp. 106139. Date of Electronic Publication: 2022 Sep 09.Publisher: Elsevier Country of Publication: United States NLM ID: 1303703 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.

  • Authors : Wong JC; Department of Pediatrics, Benioff Children's Hospital, UCSF, San Francisco, California, USA.; Helen Diller Family Comprehensive Cancer Center, UCSF, San Francisco, California, USA.

Subjects: Evolution, Molecular* ; Germ-Line Mutation* ; Hematologic Neoplasms*Chromosome 7, monosomy; Monosomy 7 of Bone Marrow

  • Source: JCI insight [JCI Insight] 2018 Jul 26; Vol. 3 (14). Date of Electronic Publication: 2018 Jul 26 (Print Publication: 2018).Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium:

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Academic Journal

Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.

  • Authors : Zhang K; aPediatric Research Institute bDepartment of Respiratory Interventional Radiology, Qilu Children's Hospital of Shandong University, Jinan, Shandong, China.; Meng C

Subjects: Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics ; Genetic Diseases, X-Linked/Genetic Diseases, X-Linked/Genetic Diseases, X-Linked/*genetics ; Muscle Hypotonia/Muscle Hypotonia/Muscle Hypotonia/*genetics Agenesis of Cerebellar Vermis; Joubert Syndrome 10

  • Source: Clinical dysmorphology [Clin Dysmorphol] 2017 Jul; Vol. 26 (3), pp. 135-141.Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Ionic interactions. Subnanoscale hydrophobic modulation of salt bridges in aqueous media.

  • Authors : Chen S; Department of Chemistry and Biotechnology, School of Engineering, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8656, Japan.; Itoh Y

Subjects: Hydrophobic and Hydrophilic Interactions*; Proteins/Proteins/Proteins/*chemistry ; Water/Water/Water/*chemistry

  • Source: Science (New York, N.Y.) [Science] 2015 May 01; Vol. 348 (6234), pp. 555-9.Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print Cited Medium:

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Academic Journal

Insulin-like growth factor pathway genetic polymorphisms, circulating IGF1 and IGFBP3, and prostate cancer survival.

Subjects: Germ-Line Mutation* ; Polymorphism, Single Nucleotide*; Insulin-Like Growth Factor Binding Protein 3/Insulin-Like Growth Factor Binding Protein 3/Insulin-Like Growth Factor Binding Protein 3/*blood

  • Source: Journal of the National Cancer Institute [J Natl Cancer Inst] 2014 Jun; Vol. 106 (6), pp. dju085.Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

C11orf95-RELA fusions drive oncogenic NF-κB signalling in ependymoma.

  • Authors : Parker M; 1] St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project, Memphis, Tennessee 38105, USA [2] Department of Computational Biology and Bioinformatics, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA [3].; Mohankumar KM

Subjects: Cell Transformation, Neoplastic*/Cell Transformation, Neoplastic*/Cell Transformation, Neoplastic*/genetics ; Signal Transduction*; Ependymoma/Ependymoma/Ependymoma/*genetics

  • Source: Nature [Nature] 2014 Feb 27; Vol. 506 (7489), pp. 451-5. Date of Electronic Publication: 2014 Feb 19.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Report

Novel mutations c.[5121_5122insAG]+[6859C>T] of the SPG11 gene associated with cerebellum hypometabolism in a Chinese case of hereditary spastic paraplegia with thin corpus callosum.

  • Authors : Ma J; Central Laboratory, Bao'an Maternal and Children Health Hospital, Shenzhen 518133, China.; Xiong L

Subjects: Mutation*; Cerebellum/Cerebellum/Cerebellum/*metabolism ; Corpus Callosum/Corpus Callosum/Corpus Callosum/*pathology Spastic paraplegia 11, autosomal recessive

  • Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2014 Feb; Vol. 20 (2), pp. 256-9. Date of Electronic Publication: 2013 Nov 14.Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Phosphatidylinositol 3,5-bisphosphate plays a role in the activation and subcellular localization of mechanistic target of rapamycin 1.

  • Authors : Bridges D; Life Sciences Institute, University of Michigan, Ann Arbor, MI 48109, USA.; Ma JT

Subjects: Lipid Metabolism*; Phosphatidylinositol 3-Kinases/Phosphatidylinositol 3-Kinases/Phosphatidylinositol 3-Kinases/*metabolism ; Phosphatidylinositol Phosphates/Phosphatidylinositol Phosphates/Phosphatidylinositol Phosphates/*metabolism

  • Source: Molecular biology of the cell [Mol Biol Cell] 2012 Aug; Vol. 23 (15), pp. 2955-62. Date of Electronic Publication: 2012 Jun 13.Publisher: American Society for Cell Biology Country of Publication: United States NLM ID: 9201390 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Grb2 regulates Stat3 activation negatively in epidermal growth factor signalling.

  • Authors : Zhang T; Institute of Molecular and Cell Biology, 30 Medical Drive, Singapore 117609, Singapore.; Ma J

Subjects: Adaptor Proteins, Signal Transducing* ; Signal Transduction*; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*antagonists & inhibitors

  • Source: The Biochemical journal [Biochem J] 2003 Dec 01; Vol. 376 (Pt 2), pp. 457-64.Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited

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