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  1. Article ; Online: Hepatocarcinoma and Cholestasis Associated to Germline Hemizygous Deletion of Gene HNF1B.

    de Leusse, Cécile / Maues De Paula, André / Aschero, Audrey / Parache, Chistelle / Hery, Geraldine / Cailliez, Mathilde / Missirian, Chantal / Fabre, Alexandre

    Journal of pediatric gastroenterology and nutrition

    2018  Volume 68, Issue 5, Page(s) e85

    MeSH term(s) Carcinoma, Hepatocellular/congenital ; Carcinoma, Hepatocellular/diagnosis ; Cholestasis/congenital ; Cholestasis/diagnosis ; Gene Deletion ; Germ Cells ; Hepatocyte Nuclear Factor 1-beta/genetics ; Humans ; Infant ; Infant, Newborn ; Liver Neoplasms/congenital ; Liver Neoplasms/diagnosis ; Male ; Ultrasonography, Prenatal
    Chemical Substances HNF1B protein, human ; Hepatocyte Nuclear Factor 1-beta (138674-15-4)
    Language English
    Publishing date 2018-05-01
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 603201-1
    ISSN 1536-4801 ; 0277-2116
    ISSN (online) 1536-4801
    ISSN 0277-2116
    DOI 10.1097/MPG.0000000000002015
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1728: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  2. Article ; Online: Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

    Estève, Clothilde / Roman, Céline / DeLeusse, Cécile / Baravalle, Melissa / Bertaux, Karine / Blanc, Frédéric / Bourgeois, Patrice / Bresson, Violaine / Cano, Aline / Coste, Marie-Edith / Delteil, Clémence / Lacoste, Caroline / Loosveld, Marie / De Paula, André Maues / Monnier, Anne-Sophie / Secq, Véronique / Levy, Nicolas / Badens, Catherine / Fabre, Alexandre

    European journal of medical genetics

    2021  Volume 64, Issue 10, Page(s) 104294

    Abstract: Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic disease ...

    Abstract Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic disease (failure to thrive, developmental delay, liver dysfunction, and lung cysts). Here, we report an additional subject with overlapping clinical findings, heterozygous for two novel variants in tyrosyl-tRNA synthetase 1 (NM_003680.3(YARS1):c.176T>C; p.(Ile59Thr) and NM_003680.3(YARS1):c.237C>G; p.(Tyr79*) identified by whole exome sequencing. The p.Ile59Thr variant is located in the highly conserved aminoacylation domain of the protein. Compared to subjects previously described, this patient presents a much more severe condition. Our findings support implication of two novel YARS1 variants in these disorders. Furthermore, we provide evidence for a reduced protein abundance in cells of the patient, in favor of a partial loss-of-function mechanism.
    MeSH term(s) Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Failure to Thrive/genetics ; Failure to Thrive/pathology ; Female ; Humans ; Infant ; Liver Diseases/genetics ; Liver Diseases/pathology ; Loss of Function Mutation ; Lung Diseases/genetics ; Lung Diseases/pathology ; Tyrosine-tRNA Ligase/genetics
    Chemical Substances Tyrosine-tRNA Ligase (EC 6.1.1.1)
    Language English
    Publishing date 2021-08-03
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104294
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 84/9: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

    Esteve, Clothilde / Francescatto, Ludmila / Tan, Perciliz L / Bourchany, Aurélie / De Leusse, Cécile / Marinier, Evelyne / Blanchard, Arnaud / Bourgeois, Patrice / Brochier-Armanet, Céline / Bruel, Ange-Line / Delarue, Arnauld / Duffourd, Yannis / Ecochard-Dugelay, Emmanuelle / Hery, Géraldine / Huet, Frédéric / Gauchez, Philippe / Gonzales, Emmanuel / Guettier-Bouttier, Catherine / Komuta, Mina /
    Lacoste, Caroline / Maudinas, Raphaelle / Mazodier, Karin / Rimet, Yves / Rivière, Jean-Baptiste / Roquelaure, Bertrand / Sigaudy, Sabine / Stephenne, Xavier / Thauvin-Robinet, Christel / Thevenon, Julien / Sarles, Jacques / Levy, Nicolas / Badens, Catherine / Goulet, Olivier / Hugot, Jean-Pierre / Katsanis, Nicholas / Faivre, Laurence / Fabre, Alexandre

    American journal of human genetics

    2018  Volume 102, Issue 3, Page(s) 364–374

    Abstract: Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, ...

    Abstract Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.
    MeSH term(s) Adolescent ; Animals ; Bone and Bones/pathology ; Child, Preschool ; Cholestasis/genetics ; Diarrhea/genetics ; Diarrhea/physiopathology ; Family ; Female ; Fibroblasts/pathology ; Gastrointestinal Motility ; Hearing Loss/genetics ; Humans ; Infant, Newborn ; Intracellular Signaling Peptides and Proteins/genetics ; Loss of Function Mutation/genetics ; Lymphocytes/pathology ; Male ; Pedigree ; Phenotype ; Syndrome ; Young Adult ; Zebrafish
    Chemical Substances Intracellular Signaling Peptides and Proteins ; UNC45A protein, human
    Language English
    Publishing date 2018-02-08
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.01.009
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 107: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

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