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  1. Article ; Online: Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    María Cristina Estañ / Elisa Fernández-Núñez / Maha S. Zaki / María Isabel Esteban / Sandra Donkervoort / Cynthia Hawkins / José A. Caparros-Martin / Dimah Saade / Ying Hu / Véronique Bolduc / Katherine Ru-Yui Chao / Julián Nevado / Ana Lamuedra / Raquel Largo / Gabriel Herrero-Beaumont / Javier Regadera / Concepción Hernandez-Chico / Eduardo F. Tizzano / Victor Martinez-Glez /
    Jaime J. Carvajal / Ruiting Zong / David L. Nelson / Ghada A. Otaify / Samia Temtamy / Mona Aglan / Mahmoud Issa / Carsten G. Bönnemann / Pablo Lapunzina / Grace Yoon / Victor L. Ruiz-Perez

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 19

    Abstract: FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models. ...

    Abstract FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
    Keywords Science ; Q
    Language English
    Publishing date 2019-02-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy

    María Cristina Estañ / Elisa Fernández-Núñez / Maha S. Zaki / María Isabel Esteban / Sandra Donkervoort / Cynthia Hawkins / José A. Caparros-Martin / Dimah Saade / Ying Hu / Véronique Bolduc / Katherine Ru-Yui Chao / Julián Nevado / Ana Lamuedra / Raquel Largo / Gabriel Herrero-Beaumont / Javier Regadera / Concepción Hernandez-Chico / Eduardo F. Tizzano / Victor Martinez-Glez /
    Jaime J. Carvajal / Ruiting Zong / David L. Nelson / Ghada A. Otaify / Samia Temtamy / Mona Aglan / Mahmoud Issa / Carsten G. Bönnemann / Pablo Lapunzina / Grace Yoon / Victor L. Ruiz-Perez

    Nature Communications, Vol 10, Iss 1, Pp 1-

    2019  Volume 19

    Abstract: FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models. ...

    Abstract FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
    Keywords Science ; Q
    Language English
    Publishing date 2019-02-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  3. Article ; Online: Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.

    Leila Cabral de Almeida Cardoso / Lara Rodriguez-Laguna / María Del Carmen Crespo / Elena Vallespín / María Palomares-Bralo / Rubén Martin-Arenas / Inmaculada Rueda-Arenas / Paulo Antonio Silvestre de Faria / GT-CSGP Working Group / Purificación García-Miguel / Pablo Lapunzina / Fernando Regla Vargas / Hector N Seuanez / Víctor Martínez-Glez

    PLoS ONE, Vol 10, Iss 8, p e

    2015  Volume 0136812

    Abstract: Wilms tumor (WT), the most common cancer of the kidney in infants and children, has a complex etiology that is still poorly understood. Identification of genomic copy number variants (CNV) in tumor genomes provides a better understanding of cancer ... ...

    Abstract Wilms tumor (WT), the most common cancer of the kidney in infants and children, has a complex etiology that is still poorly understood. Identification of genomic copy number variants (CNV) in tumor genomes provides a better understanding of cancer development which may be useful for diagnosis and therapeutic targets. In paired blood and tumor DNA samples from 14 patients with sporadic WT, analyzed by aCGH, 22% of chromosome abnormalities were novel. All constitutional alterations identified in blood were segmental (in 28.6% of patients) and were also present in the paired tumor samples. Two segmental gains (2p21 and 20q13.3) and one loss (19q13.31) present in blood had not been previously described in WT. We also describe, for the first time, a small, constitutive partial gain of 3p22.1 comprising 2 exons of CTNNB1, a gene associated to WT. Among somatic alterations, novel structural chromosomal abnormalities were found, like gain of 19p13.3 and 20p12.3, and losses of 2p16.1-p15, 4q32.5-q35.1, 4q35.2-q28.1 and 19p13.3. Candidate genes included in these regions might be constitutively (SIX3, SALL4) or somatically (NEK1, PIAS4, BMP2) operational in the development and progression of WT. To our knowledge this is the first report of CNV in paired blood and tumor samples in sporadic WT.
    Keywords Medicine ; R ; Science ; Q
    Subject code 610
    Language English
    Publishing date 2015-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

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