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  1. Article ; Online: Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.

    Rodríguez Doyágüez, Pablo / Furlano, Mónica / Ars Criach, Elisabet / Arce, Yolanda / Guirado, Lluís / Torra Balcells, Roser

    Nefrologia

    2024  Volume 43 Suppl 2, Page(s) 91–95

    Abstract: Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a ... ...

    Abstract Fabry disease or also called Anderson-Fabry disease (FD) is a rare disease caused by pathogenic variants in the GLA gene, located on the X chromosome. This gene is involved in the metabolism of glycosphingolipids and its pathogenic variants cause a deficit or absence of α-galactosidase A causing the deposition of globotriaosylceramide throughout the body. Females have a variable phenotypic expression and a better prognosis than males. This is due to the X chromosome inactivation phenomenon. We present a clinical case of Fabry disease in a female with predominantly renal involvement and demonstrate how the X chromosome inactivation phenomenon is tissue dependent, showing preferential inactivation of the mutated allele at the renal level.
    MeSH term(s) Male ; Female ; Humans ; Fabry Disease/genetics ; Fabry Disease/pathology ; X Chromosome Inactivation ; alpha-Galactosidase/genetics ; alpha-Galactosidase/metabolism ; Kidney/pathology ; Phenotype
    Chemical Substances alpha-Galactosidase (EC 3.2.1.22)
    Language English
    Publishing date 2024-01-25
    Publishing country Spain
    Document type Case Reports
    ZDB-ID 2837917-2
    ISSN 2013-2514 ; 2013-2514
    ISSN (online) 2013-2514
    ISSN 2013-2514
    DOI 10.1016/j.nefroe.2024.01.018
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Molecular diagnosis of autosomal dominant polycystic kidney disease.

    Torra Balcells, R / Ars Criach, E

    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia

    2011  Volume 31, Issue 1, Page(s) 35–43

    Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder. Its estimated prevalence is 1 per 800 individuals. ADPKD patients constitute 8% of the population on dialysis or kidney transplantation. The disease can be ... ...

    Abstract Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder. Its estimated prevalence is 1 per 800 individuals. ADPKD patients constitute 8% of the population on dialysis or kidney transplantation. The disease can be diagnosed using radiological or genetic procedures. Direct genetic diagnosis of the disease can now be performed in Spain; however, it is not an easy or cheap test. This is why every case should be considered individually to determine whether genetic testing is appropriate, and to determine which genetic test is most adequate. Genetic testing in ADPKD is of special interest for living donors and neonatal and sporadic cases. Genetic testing offers the chance of performing prenatal or pre-implantation testing of embryos in families with severe cases of the disease. Also, this will enable the disease to be treated, when specific treatment becomes available, in cases that would not be candidates for treatment without genetic confirmation.
    MeSH term(s) Age of Onset ; DNA Mutational Analysis ; Databases, Genetic ; Diagnostic Imaging/economics ; Genetic Counseling ; Genetic Linkage ; Humans ; Molecular Diagnostic Techniques/economics ; Mosaicism ; Mutation ; Polycystic Kidney, Autosomal Dominant/diagnosis ; Polycystic Kidney, Autosomal Dominant/economics ; Polycystic Kidney, Autosomal Dominant/epidemiology ; Polycystic Kidney, Autosomal Dominant/genetics ; Preimplantation Diagnosis/economics ; Preimplantation Diagnosis/methods ; Prenatal Diagnosis/economics ; Prenatal Diagnosis/methods ; RNA, Messenger/genetics ; Spain ; TRPP Cation Channels/genetics
    Chemical Substances RNA, Messenger ; TRPP Cation Channels ; polycystic kidney disease 1 protein ; polycystic kidney disease 2 protein
    Language English
    Publishing date 2011
    Publishing country Spain
    Document type Journal Article ; Review
    ZDB-ID 632512-9
    ISSN 1989-2284 ; 0211-6995
    ISSN (online) 1989-2284
    ISSN 0211-6995
    DOI 10.3265/Nefrologia.pre2010.Nov.10727
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 2773: Show issues Location:
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    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 56: Show issues

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  3. Article ; Online: A review on autosomal dominant tubulointerstitial kidney disease.

    Ayasreh Fierro, Nadia / Miquel Rodríguez, Rosa / Matamala Gastón, Ana / Ars Criach, Elisabet / Torra Balcells, Roser

    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia

    2017  Volume 37, Issue 3, Page(s) 235–243

    Abstract: In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed ... ...

    Title translation Revisión de la nefropatía tubulointersticial autosómica dominante.
    Abstract In recent years there has been a reclassification of hereditary tubulointerstitial renal diseases. The old concepts of nephronoptisis or medullary cystic disease have been reordered based on the discovery of new genes. The 2015 KDIGO guidelines proposed a unification of terminology, diagnostic criteria and monitoring. So far 4genes causing autosomal dominant tubulointerstitial kidney disease have been described: MUC1, UMOD, HNF1B and REN. Although the mutation in each of them causes distinctive features in how they present, all have in common the progressive tubulointerstitial damage and renal fibrosis. In this article, we present a review of the guidelines and the literature, and some practical recommendations for dealing with this disease.
    Language Spanish
    Publishing date 2017-05
    Publishing country Spain
    Document type Journal Article
    ZDB-ID 632512-9
    ISSN 1989-2284 ; 0211-6995
    ISSN (online) 1989-2284
    ISSN 0211-6995
    DOI 10.1016/j.nefro.2016.10.024
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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  4. Article ; Online: Familial chronic interstitial nephropathy with hyperuricaemia caused by the UMOD gene.

    Ayasreh-Fierro, Nadia / Ars-Criach, Elisabet / Lopes-Martín, Vanesa / Arce-Terroba, Yolanda / Ruiz-del Prado, Patricia / Ballarín-Castán, José / Torra-Balcells, Roser

    Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia

    2013  Volume 33, Issue 4, Page(s) 587–592

    MeSH term(s) Humans ; Hyperuricemia/etiology ; Hyperuricemia/genetics ; Male ; Nephritis, Interstitial/complications ; Nephritis, Interstitial/genetics ; Pedigree ; Uromodulin/genetics ; Young Adult
    Chemical Substances UMOD protein, human ; Uromodulin
    Language Spanish
    Publishing date 2013
    Publishing country Spain
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 632512-9
    ISSN 1989-2284 ; 0211-6995
    ISSN (online) 1989-2284
    ISSN 0211-6995
    DOI 10.3265/Nefrologia.pre2013.Apr.11960
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.B 2773: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 56: Show issues

    Order via subito

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