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Academic Journal

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

  • Authors : Stockley TL; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada. ; Mendoza-Londono R

Subjects: Alternative Splicing* ; Mutation*; Branchio-Oto-Renal Syndrome/Branchio-Oto-Renal Syndrome/Branchio-Oto-Renal Syndrome/*genetics

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2009 Mar; Vol. 149A (3), pp. 322-7.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

  • Authors : Meyers GA; Center for Medical Genetics, Johns Hopkins Hospital, Baltimore, MD 21287-3914, USA.; Day D

Subjects: Alternative Splicing* ; Mutation*; Craniofacial Dysostosis/Craniofacial Dysostosis/Craniofacial Dysostosis/*genetics

  • Source: American journal of human genetics [Am J Hum Genet] 1996 Mar; Vol. 58 (3), pp. 491-8.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print)

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Academic Journal

Reference-informed prediction of alternative splicing and splicing-altering mutations from sequences.

  • Authors : Xu C; Bioinformatics Division, BNRIST, Department of Computer Science and Technology, Tsinghua University, Beijing 100084, China.; Bao S

Subjects: Alternative Splicing* ; Mutation* ; Quantitative Trait Loci*

  • Source: Genome research [Genome Res] 2024 Aug 20; Vol. 34 (7), pp. 1052-1065. Date of Electronic Publication: 2024 Aug 20.Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium:

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Academic Journal

RBM10 C761Y mutation induced oncogenic ASPM isoforms and regulated β-catenin signaling in cholangiocarcinoma.

Subjects: *ALTERNATIVE RNA splicing; *CHOLANGIOCARCINOMA; *GENETIC mutation

  • Source: Journal of Experimental & Clinical Cancer Research (17569966). 4/4/2024, Vol. 43 Issue 1, p1-17. 17p.

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Academic Journal

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Subjects: *ALTERNATIVE RNA splicing; *SPINAL muscular atrophy; *MONONUCLEAR leukocytes

  • Source: Molecular Genetics & Genomics. Jul2022, Vol. 297 Issue 4, p1039-1048. 10p.

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Academic Journal

Elevated 4R tau contributes to endolysosomal dysfunction and neurodegeneration in VCP-related frontotemporal dementia.

Subjects: FRONTOTEMPORAL dementia; TAU proteins; ALTERNATIVE RNA splicing

  • Source: Brain: A Journal of Neurology; Mar2024, Vol. 147 Issue 3, p970-979, 10p

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Academic Journal

Two different aging paths in human blood revealed by integrated analysis of gene Expression, mutation and alternative splicing.

Subjects: *ALTERNATIVE RNA splicing; *GENE expression; *LOCUS (Genetics)

  • Source: Gene. Jun2022, Vol. 829, pN.PAG-N.PAG. 1p.

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Academic Journal

Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance.

  • Authors : Garus A; Department of Anatomy and Cell Biology, McGill University, Montreal, Quebec, H3A 0C7, Canada.; Jewish General Hospital, Lady Davis Institute, Montreal, Quebec, H3T 1E2, Canada.

Subjects: Alternative Splicing* ; Mutation* ; RNA Processing, Post-Transcriptional*

  • Source: RNA (New York, N.Y.) [RNA] 2021 Dec; Vol. 27 (12), pp. 1441-1458. Date of Electronic Publication: 2021 Sep 23.Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9509184 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Comprehensive characterization of alternative splicing in renal cell carcinoma.

  • Authors : Zhang Y; Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, China.; Wu X

Subjects: Alternative Splicing* ; Mutation*; Biomarkers, Tumor/Biomarkers, Tumor/Biomarkers, Tumor/*genetics

  • Source: Briefings in bioinformatics [Brief Bioinform] 2021 Sep 02; Vol. 22 (5).Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

SF3B1 as therapeutic target in FLT3/ITD positive acute myeloid leukemia.

  • Authors : van der Werf I; Dept. of Hematology, Amsterdam University Medical Center, VU University Medical Center, Cancer Center Amsterdam, Amsterdam, The Netherlands. .; Wojtuszkiewicz A

Subjects: Alternative Splicing* ; Mutation* ; Tandem Repeat Sequences*

  • Source: Leukemia [Leukemia] 2021 Sep; Vol. 35 (9), pp. 2698-2702. Date of Electronic Publication: 2021 May 17.Publisher: Nature Publishing Group, Specialist Journals Country of Publication: England NLM ID: 8704895 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  807 results for ""ALTERNATIVE RNA splicing""