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Academic Journal

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

  • Authors : Lombardi S; Department of Life Sciences and Biotechnology, University of Ferrara, Ferrara 44121, Italy.; Leo G

Subjects: Exons* ; Mutation* ; RNA Splicing*

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1512-1525. Date of Electronic Publication: 2021 Jul 08.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Nonsense-mediated decay is highly stable across individuals and tissues.

  • Authors : Teran NA; Department of Pathology, School of Medicine, Stanford University, Stanford, CA 94305, USA; Department of Genetics, School of Medicine, Stanford University, Stanford, CA 94305, USA.

Subjects: Gene Expression Regulation* ; Genetic Variation* ; Mutation*

  • Source: American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1401-1408. Date of Electronic Publication: 2021 Jul 02.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Diverse Long RNAs Are Differentially Sorted into Extracellular Vesicles Secreted by Colorectal Cancer Cells.

  • Authors : Hinger SA; Department of Biological Sciences, Vanderbilt University Medical Center, Nashville, TN 37235, USA.; Cha DJ

Subjects: Cell Communication* ; Mutation*; Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*metabolism

  • Source: Cell reports [Cell Rep] 2018 Oct 16; Vol. 25 (3), pp. 715-725.e4.Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium:

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Academic Journal

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

  • Authors : Haack TB; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.

Subjects: Mutation* ; RNA Processing, Post-Transcriptional*; Cardiomyopathy, Hypertrophic/Cardiomyopathy, Hypertrophic/Cardiomyopathy, Hypertrophic/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2013 Aug 08; Vol. 93 (2), pp. 211-23. Date of Electronic Publication: 2013 Jul 11.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo.

  • Authors : Shirai CL; Division of Oncology, Department of Medicine, Washington University, St. Louis, MO 63110, USA.; Ley JN

Subjects: Mutation*; Hematopoiesis/Hematopoiesis/Hematopoiesis/*genetics ; Nuclear Proteins/Nuclear Proteins/Nuclear Proteins/*genetics

  • Source: Cancer cell [Cancer Cell] 2015 May 11; Vol. 27 (5), pp. 631-43.Publisher: Cell Press Country of Publication: United States NLM ID: 101130617 Publication Model: Print Cited Medium:

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Academic Journal

Charting the "Splice" Routes to MDS.

  • Authors : Obeng EA; Division of Hematology, Brigham and Women's Hospital, Boston, MA 02115, USA; Dana-Farber Cancer Institute, Boston, MA 02115, USA

Subjects: Exons* ; Mutation* ; Telomere*

  • Source: Cancer cell [Cancer Cell] 2015 May 11; Vol. 27 (5), pp. 607-9.Publisher: Cell Press Country of Publication: United States NLM ID: 101130617 Publication Model: Print Cited Medium:

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Academic Journal

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

  • Authors : Alami NH; Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.; Smith RB

Subjects: Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/Amyotrophic Lateral Sclerosis/*pathology ; Axonal Transport/Axonal Transport/Axonal Transport/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics

  • Source: Neuron [Neuron] 2014 Feb 05; Vol. 81 (3), pp. 536-543.Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium:

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Academic Journal

Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.

  • Authors : Yasuda M; Department of Human Genetics, Mount Sinai School of Medicine, 1425 Madison Avenue, New York, NY 10029, USA.; Shabbeer J

Subjects: Mutation*; Fabry Disease/Fabry Disease/Fabry Disease/*genetics ; RNA, Messenger/RNA, Messenger/RNA, Messenger/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 2003 Jul; Vol. 73 (1), pp. 162-73. Date of Electronic Publication: 2003 Jun 06.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.

  • Authors : Putnam EA; Department of Internal Medicine, University of Texas-Houston Medical School, 77030, USA.; Park ES

Subjects: Mosaicism* ; Mutation*; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 1997 Apr; Vol. 60 (4), pp. 818-27.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print

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Academic Journal

Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia.

  • Authors : Kobayashi K; Department of Biochemistry, Faculty of Medicine, Kagoshima University, Japan.; Shaheen N

Subjects: Mutation*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Argininosuccinate Synthase/Argininosuccinate Synthase/Argininosuccinate Synthase/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 1994 Dec; Vol. 55 (6), pp. 1103-12.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print

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  • 1-10 of  202 results for ""RNA, Messenger""